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Sample records for autosomal-recessive pitt-hopkins-like mental

  1. CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

    DEFF Research Database (Denmark)

    Zweier, Christiane; de Jong, Eiko K; Zweier, Markus;

    2009-01-01

    , phenotypically overlapping with Pitt-Hopkins syndrome. With a frequency of at least 1% in our cohort of 179 patients, recessive defects in CNTNAP2 appear to significantly contribute to severe MR. Whereas the established synaptic role of NRXN1 suggests that synaptic defects contribute to the associated...... neuropsychiatric disorders and to severe MR as reported here, evidence for a synaptic role of the CNTNAP2-encoded protein CASPR2 has so far been lacking. Using Drosophila as a model, we now show that, as known for fly Nrx-I, the CASPR2 ortholog Nrx-IV might also localize to synapses. Overexpression of either...

  2. Autosomal recessive disorder with retardation of growth, mental deficiency, ptosis, pectus excavatum and camptodactyly

    Energy Technology Data Exchange (ETDEWEB)

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

    1988-07-01

    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.

  3. A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

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    Garshasbi, Masoud; Hadavi, Valeh; Habibi, Haleh; Kahrizi, Kimia; Kariminejad, Roxana; Behjati, Farkhondeh; Tzschach, Andreas; Najmabadi, Hossein; Ropers, Hans Hilger; Kuss, Andreas Walter

    2008-01-01

    Recent studies have shown that autosomal recessive mental retardation (ARMR) is extremely heterogeneous, and there is reason to believe that the number of underlying gene defects goes into the thousands. To date, however, only four genes have been implicated in nonsyndromic ARMR (NS-ARMR): PRSS12 (neurotrypsin), CRBN (cereblon), CC2D1A, and GRIK2. As part of an ongoing systematic study aiming to identify ARMR genes, we investigated a large consanguineous family comprising seven patients with ...

  4. 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...

  5. 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).

  6. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.

    Science.gov (United States)

    Garshasbi, Masoud; Hadavi, Valeh; Habibi, Haleh; Kahrizi, Kimia; Kariminejad, Roxana; Behjati, Farkhondeh; Tzschach, Andreas; Najmabadi, Hossein; Ropers, Hans Hilger; Kuss, Andreas Walter

    2008-05-01

    Recent studies have shown that autosomal recessive mental retardation (ARMR) is extremely heterogeneous, and there is reason to believe that the number of underlying gene defects goes into the thousands. To date, however, only four genes have been implicated in nonsyndromic ARMR (NS-ARMR): PRSS12 (neurotrypsin), CRBN (cereblon), CC2D1A, and GRIK2. As part of an ongoing systematic study aiming to identify ARMR genes, we investigated a large consanguineous family comprising seven patients with nonsyndromic ARMR in four sibships. Genome-wide SNP typing enabled us to map the relevant genetic defect to a 4.6 Mbp interval on chromosome 8. Haplotype analyses and copy-number studies led to the identification of a homozygous deletion partly removing TUSC3 (N33) in all patients. All obligate carriers of this family were heterozygous, but none of 192 unrelated healthy individuals from the same population carried this deletion. We excluded other disease-causing mutations in the coding regions of all genes within the linkage interval by sequencing; moreover, we verified the complete absence of a functional TUSC3 transcript in all patients through RT-PCR. TUSC3 is thought to encode a subunit of the endoplasmic reticulum-bound oligosaccharyltransferase complex that catalyzes a pivotal step in the protein N-glycosylation process. Our data suggest that in contrast to other genetic defects of glycosylation, inactivation of TUSC3 causes nonsyndromic MR, a conclusion that is supported by a separate report in this issue of AJHG. TUSC3 is only the fifth gene implicated in NS-ARMR and the first for which mutations have been reported in more than one family. PMID:18452889

  7. Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?

    Science.gov (United States)

    Cauwels, R G E C; De Coster, P J; Mortier, G R; Marks, L A M; Martens, L C

    2005-08-01

    The follow-up history and oral findings in two brothers from consanguineous parents suggest that the association of dentinogenesis imperfecta (DI), delayed tooth eruption, mild mental retardation, proportionate short stature, sensorineural hearing loss and dysmorphic facies may represent a new syndrome with autosomal recessive inheritance. Histological examination of the dentin matrix of a permanent molar from one of the siblings reveals morphological similarities with defective dentinogenesis as presenting in patients affected with Osteogenesis Imperfecta (OI), a condition caused by deficiency of type I collagen. A number of radiographic and histological characteristics, however, are inconsistent with classical features of DI. These findings suggest that DI may imply greater genetical heterogeneity than currently assumed.

  8. Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

    Science.gov (United States)

    Najmabadi, Hossein; Motazacker, Mohammad Mahdi; Garshasbi, Masoud; Kahrizi, Kimia; Tzschach, Andreas; Chen, Wei; Behjati, Farkhondeh; Hadavi, Valeh; Nieh, Sahar Esmaeeli; Abedini, Seyedeh Sedigheh; Vazifehmand, Reza; Firouzabadi, Saghar Ghasemi; Jamali, Payman; Falah, Masoumeh; Seifati, Seyed Morteza; Grüters, Annette; Lenzner, Steffen; Jensen, Lars R; Rüschendorf, Franz; Kuss, Andreas W; Ropers, H Hilger

    2007-03-01

    Autosomal recessive gene defects are arguably the most important, but least studied genetic causes of severe cognitive dysfunction. Homozygosity mapping in 78 consanguineous Iranian families with nonsyndromic autosomal recessive mental retardation (NS-ARMR) has enabled us to determine the chromosomal localization of at least 8 novel gene loci for this condition. Our data suggest that in the Iranian population NS-ARMR is very heterogeneous, and they argue against the existence of frequent gene defects that account for more than a few percent of the cases. PMID:17120046

  9. Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.

    Science.gov (United States)

    Kuss, Andreas Walter; Garshasbi, Masoud; Kahrizi, Kimia; Tzschach, Andreas; Behjati, Farkhondeh; Darvish, Hossein; Abbasi-Moheb, Lia; Puettmann, Lucia; Zecha, Agnes; Weissmann, Robert; Hu, Hao; Mohseni, Marzieh; Abedini, Seyedeh Sedigheh; Rajab, Anna; Hertzberg, Christoph; Wieczorek, Dagmar; Ullmann, Reinhard; Ghasemi-Firouzabadi, Saghar; Banihashemi, Susan; Arzhangi, Sanaz; Hadavi, Valeh; Bahrami-Monajemi, Gholamreza; Kasiri, Mahboubeh; Falah, Masoumeh; Nikuei, Pooneh; Dehghan, Atefeh; Sobhani, Masoumeh; Jamali, Payman; Ropers, Hans Hilger; Najmabadi, Hossein

    2011-02-01

    Mental retardation (MR) has a worldwide prevalence of around 2% and is a frequent cause of severe disability. Significant excess of MR in the progeny of consanguineous matings as well as functional considerations suggest that autosomal recessive forms of MR (ARMR) must be relatively common. To shed more light on the causes of autosomal recessive MR (ARMR), we have set out in 2003 to perform systematic clinical studies and autozygosity mapping in large consanguineous Iranian families with non-syndromic ARMR (NS-ARMR). As previously reported (Najmabadi et al. in Hum Genet 121:43-48, 2007), this led us to the identification of 12 novel ARMR loci, 8 of which had a significant LOD score (OMIM: MRT5-12). In the meantime, we and others have found causative gene defects in two of these intervals. Moreover, as reported here, tripling the size of our cohort has enabled us to identify 27 additional unrelated families with NS-ARMR and single-linkage intervals; 14 of these define novel loci for non-syndromic ARMR. Altogether, 13 out of 39 single linkage intervals observed in our cohort were found to cluster at 6 different loci on chromosomes, i.e., 1p34, 4q27, 5p15, 9q34, 11p11-q13 and 19q13, respectively. Five of these clusters consist of two significantly overlapping linkage intervals, and on chr 1p34, three single linkage intervals coincide, including the previously described MRT12 locus. The probability for this distribution to be due to chance is only 1.14 × 10(-5), as shown by Monte Carlo simulation. Thus, in contrast to our previous conclusions, these novel data indicate that common molecular causes of NS-ARMR do exist, and in the Iranian population, the most frequent ones may well account for several percent of the patients. These findings will be instrumental in the identification of the underlying genes. PMID:21063731

  10. Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1.

    Science.gov (United States)

    Dursun, Umut; Koroglu, Cigdem; Kocasoy Orhan, Elif; Ugur, Sibel Aylin; Tolun, Aslihan

    2009-10-01

    Hereditary spastic paraplegias (HSPs) are characterized by progressive spasticity in the lower limbs. They are clinically heterogeneous, and pure forms as well as complicated forms with other accompanying clinical findings are known. HSPs are also genetically heterogeneous. We performed clinical and genetic studies in a consanguineous family with five affected members. A genome scan using 405 microsatellite markers for eight members of the family identified candidate gene loci, and subsequent fine mapping in 16 members identified the gene locus responsible for the HSP. The clinical manifestations were very early onset spastic paraplegia (SPG) accompanied by mental retardation and ocular signs. The gene locus was identified as the interval 102.05-106.64 Mbp on chromosome 10. Gene MRPL43 was analyzed in the patients. No mutation but high levels of mRNA were detected. We have mapped a novel autosomal recessive complicated form of HSP (SPG45) to a 4.6-Mbp region at 10q24.3-q25.1 with multipoint logarithm of odds scores >4.5.

  11. Autosomal recessive cerebellar ataxias

    Directory of Open Access Journals (Sweden)

    Palau Francesc

    2006-11-01

    Full Text Available Abstract Autosomal recessive cerebellar ataxias (ARCA are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. This group encompasses a large number of rare diseases, the most frequent in Caucasian population being Friedreich ataxia (estimated prevalence 2–4/100,000, ataxia-telangiectasia (1–2.5/100,000 and early onset cerebellar ataxia with retained tendon reflexes (1/100,000. Other forms ARCA are much less common. Based on clinicogenetic criteria, five main types ARCA can be distinguished: congenital ataxias (developmental disorder, ataxias associated with metabolic disorders, ataxias with a DNA repair defect, degenerative ataxias, and ataxia associated with other features. These diseases are due to mutations in specific genes, some of which have been identified, such as frataxin in Friedreich ataxia, α-tocopherol transfer protein in ataxia with vitamin E deficiency (AVED, aprataxin in ataxia with oculomotor apraxia (AOA1, and senataxin in ataxia with oculomotor apraxia (AOA2. Clinical diagnosis is confirmed by ancillary tests such as neuroimaging (magnetic resonance imaging, scanning, electrophysiological examination, and mutation analysis when the causative gene is identified. Correct clinical and genetic diagnosis is important for appropriate genetic counseling and prognosis and, in some instances, pharmacological treatment. Due to autosomal recessive inheritance, previous familial history of affected individuals is unlikely. For most ARCA there is no specific drug treatment except for coenzyme Q10 deficiency and abetalipoproteinemia.

  12. A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3.

    Science.gov (United States)

    Uyguner, O; Kayserili, H; Li, Y; Karaman, B; Nürnberg, G; Hennies, Hc; Becker, C; Nürnberg, P; Başaran, S; Apak, M Y; Wollnik, B

    2007-03-01

    Autosomal recessive inheritance of non-syndromic mental retardation (ARNSMR) may account for approximately 25% of all patients with non-specific mental retardation (NSMR). Although many X-linked genes have been identified as a cause of NSMR, only three autosomal genes are known to cause ARNSMR. We present here a large consanguineous Turkish family with four mentally retarded individuals from different branches of the family. Clinical tests showed cognitive impairment but no neurological, skeletal, and biochemical involvements. Genome-wide mapping using Human Mapping 10K Array showed a single positive locus with a parametric LOD score of 4.92 in a region on chromosome 1p21.1-p13.3. Further analyses using polymorphic microsatellite markers defined a 6.6-Mb critical region containing approximately 130 known genes. This locus is the fourth one linked to ARNSMR.

  13. Autosomal recessive epidermolytic palmoplantar keratoderma.

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    Alsaleh, Q A; Teebi, A S

    1990-08-01

    Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders. Epidermolytic PPK is a well delineated autosomal dominant entity, but no recessive form is known. Here we report two sons of phenotypically normal, consanguineous, Arab parents with features suggestive of PPK. They presented with patchy eczematous skin lesions followed by PPK and raised serum levels of IgE. Skin biopsy from the keratotic lesions showed the features of epidermolytic hyperkeratosis. Autosomal recessive inheritance is suggested and the differential diagnosis is discussed.

  14. An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.

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    Kahrizi, Kimia; Najmabadi, Hossein; Kariminejad, Roxana; Jamali, Payman; Malekpour, Mahdi; Garshasbi, Masoud; Ropers, Hans Hilger; Kuss, Andreas Walter; Tzschach, Andreas

    2009-01-01

    We report on three siblings with a novel mental retardation (MR) syndrome who were born to distantly related Iranian parents. The clinical problems comprised severe MR, cataracts with onset in late adolescence, kyphosis, contractures of large joints, bulbous nose with broad nasal bridge, and thick lips. Two patients also had uni- or bilateral iris coloboma. Linkage analysis revealed a single 10.4 Mb interval of homozygosity with significant LOD score in the pericentromeric region of chromosome 4 flanked by SNPs rs728293 (4p12) and rs1105434 (4q12). This interval contains more than 40 genes, none of which has been implicated in MR so far. The identification of the causative gene defect for this syndrome will provide new insights into the development of the brain and the eye.

  15. A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.

    Science.gov (United States)

    Delague, Valérie; Bareil, Corinne; Bouvagnet, Patrice; Salem, Nabiha; Chouery, Eliane; Loiselet, Jacques; Mégarbané, André; Claustres, Mireille

    2002-03-01

    Congenital cerebellar ataxias are a heterogeneous group of non-progressive disorders characterized by hypotonia and developmental delay followed by the appearance of ataxia, and often associated with dysarthria, mental retardation, and atrophy of the cerebellum. We report the mapping of a disease gene in a large inbred Lebanese Druze family, with five cases of a new form of non-progressive autosomal recessive congenital ataxia associated with optic atrophy, severe mental retardation, and structural skin abnormalities, to a 3.6-cM interval on chromosome 15q24-15q26.

  16. Autosomal recessive hereditary auditory neuropathy

    Institute of Scientific and Technical Information of China (English)

    王秋菊; 顾瑞; 曹菊阳

    2003-01-01

    Objectives: Auditory neuropathy (AN) is a sensorineural hearing disorder characterized by absent or abnormal auditory brainstem responses (ABRs) and normal cochlear outer hair cell function as measured by otoacoustic emissions (OAEs). Many risk factors are thought to be involved in its etiology and pathophysiology. Three Chinese pedigrees with familial AN are presented herein to demonstrate involvement of genetic factors in AN etiology. Methods: Probands of the above - mentioned pedigrees, who had been diagnosed with AN, were evaluated and followed up in the Department of Otolaryngology Head and Neck Surgery, China PLA General Hospital. Their family members were studied and the pedigree diagrams were established. History of illness, physical examination,pure tone audiometry, acoustic reflex, ABRs and transient evoked and distortion- product otoacoustic emissions (TEOAEs and DPOAEs) were obtained from members of these families. DPOAE changes under the influence of contralateral sound stimuli were observed by presenting a set of continuous white noise to the non - recording ear to exam the function of auditory efferent system. Some subjects received vestibular caloric test, computed tomography (CT)scan of the temporal bone and electrocardiography (ECG) to exclude other possible neuropathy disorders. Results: In most affected subjects, hearing loss of various degrees and speech discrimination difficulties started at 10 to16 years of age. Their audiological evaluation showed absence of acoustic reflex and ABRs. As expected in AN, these subjects exhibited near normal cochlear outer hair cell function as shown in TEOAE & DPOAE recordings. Pure- tone audiometry revealed hearing loss ranging from mild to severe in these patients. Autosomal recessive inheritance patterns were observed in the three families. In Pedigree Ⅰ and Ⅱ, two affected brothers were found respectively, while in pedigree Ⅲ, 2 sisters were affected. All the patients were otherwise normal without

  17. Genetics Home Reference: autosomal recessive cerebellar ataxia type 1

    Science.gov (United States)

    ... Genetics Home Health Conditions ARCA1 autosomal recessive cerebellar ataxia type 1 Enable Javascript to view the expand/ ... Open All Close All Description Autosomal recessive cerebellar ataxia type 1 ( ARCA1 ) is a condition characterized by ...

  18. Autosomal recessive diseases among Palestinian Arabs.

    OpenAIRE

    Zlotogora, J

    1997-01-01

    As a consequence of the high consanguinity rate among the Palestinian Arabs, many recessive disorders are present with a relatively high frequency. In a survey of 2000 different Palestinian Arab families who visited our genetic clinic, in 601 an autosomal recessive disease was diagnosed or strongly suspected. The distribution of these disorders was not uniform and some disorders, such as Krabbe disease, were found at high frequency in only a small part of the population. For some other disord...

  19. THE SYNDROME OF AUTOSOMAL RECESSIVE PONTOCEREBELLAR HYPOPLASIA, MICROCEPHALY, AND EXTRAPYRAMIDAL DYSKINESIA (PONTOCEREBELLAR HYPOPLASIA TYPE-2) - COMPILED DATA FROM 10 PEDIGREES

    NARCIS (Netherlands)

    BARTH, PG; BLENNOW, G; LENARD, HG; BEGEER, JH; VANDERKLEY, JM; HANEFELD, F; PETERS, ACB; Valk, J.

    1995-01-01

    The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, severely impaired mental and motor development, and extrapyramidal dyskinesia is a distinct system degeneration, previously designated pontocerebellar hypoplasia type 2 (PCH-2). To further characterize its clinical and neu

  20. A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.

    Science.gov (United States)

    Boukhris, Amir; Feki, Imed; Elleuch, Nizar; Miladi, Mohamed Imed; Boland-Augé, Anne; Truchetto, Jérémy; Mundwiller, Emeline; Jezequel, Nadia; Zelenika, Diana; Mhiri, Chokri; Brice, Alexis; Stevanin, Giovanni

    2010-10-01

    Hereditary spastic paraplegia (HSP) with thin corpus callosum (TCC) and mental impairment is a frequent subtype of complicated HSP, often inherited as an autosomal recessive (AR) trait. It is clear from molecular genetic analyses that there are several underlying causes of this syndrome, with at least six genetic loci identified to date. However, SPG11 and SPG15 are the two major genes for this entity. To map the responsible gene in a large AR-HSP-TCC family of Tunisian origin, we investigated a consanguineous family with a diagnosis of AR-HSP-TCC excluded for linkage to the SPG7, SPG11, SPG15, SPG18, SPG21, and SPG32 loci. A genome-wide scan was undertaken using 6,090 SNP markers covering all chromosomes. The phenotypic presentation in five patients was suggestive of a complex HSP that associated an early-onset spastic paraplegia with mild handicap, mental deterioration, congenital cataract, cerebellar signs, and TCC. The genome-wide search identified a single candidate region on chromosome 9, exceeding the LOD score threshold of +3. Fine mapping using additional markers narrowed the candidate region to a 45.1-Mb interval (15.4 cM). Mutations in three candidate genes were excluded. The mapping of a novel AR-HSP-TCC locus further demonstrates the extensive genetic heterogeneity of this condition. We propose that testing for this locus should be performed, after exclusion of mutations in SPG11 and SPG15 genes, in AR-HSP-TCC families, especially when cerebellar ataxia and cataract are present.

  1. [Autosomal recessive ethnic diseases of Czech Gypsies].

    Science.gov (United States)

    Seeman, P; Sisková, D

    2006-01-01

    Roma (Gypsy ethnic) form a genetically isolated ethnical group of the identical origin with the world population of 10 to 14 millions derived from a limited number of so-called founders. Majority (about 8 millions) of Roma ethnic live in Europe, namely at Balkan and in the southwest of Europe. Roma have specific hereditary diseases, namely those caused by recessive genetic mutations. The molecular-genetic mechanism has been recently elucidated and confirmed in several diseases of the Roma population. Owing to the significant proportion of Roma in the population, patients with those diseases are possible to meet also in the Czech Republic. However, the diagnostics of those diseases is frequently difficult and they are often under diagnosed or misdiagnosed. The article gives examples of autosomal recessive diseases, which can be confirmed at the DNA level which occur in Roma population of the Czech Republic: syndrome of congenital cataract, facial dysmorphism and demyelinating neuropathy, non-syndromic prelingual deafness with GJB2 gene impairment and the congenital myastenic syndrome. PMID:16921785

  2. Autosomal recessive cerebellar ataxias : the current state of affairs

    NARCIS (Netherlands)

    Vermeer, S.; van de Warrenburg, B. P. C.; Willemsen, M. A. A. P.; Cluitmans, M.; Scheffer, H.; Kremer, B. P.; Knoers, N. V. A. M.

    2011-01-01

    Among the hereditary ataxias, autosomal recessive cerebellar ataxias (ARCAs) encompass a diverse group of rare neurodegenerative disorders in which a cerebellar syndrome is the key clinical feature. The clinical overlap between the different cerebellar ataxias, the occasional atypical phenotypes, an

  3. A new autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly: Report of a case and review of literature

    Directory of Open Access Journals (Sweden)

    Phadke Shubha

    2007-01-01

    Full Text Available Pachygyria is a disorder of neuronal migration. We report an Indian family with four siblings with developmental delay, infrequent seizures, normal head size and mild to moderate mental retardation. Two of them had bilaterally symmetrical frontotemporal pachygyria. Dysmorphism and neurological signs were absent in the affected subjects. Affected male and female siblings with normal parents suggests autosomal recessive mode of inheritance. We believe these cases represent a new autosomal recessive disorder of neuronal migration. Other similar cases of lissencephaly are reviewed.

  4. Black hair follicular dysplasia, an autosomal recessive condition in dogs.

    OpenAIRE

    Schmutz, S M; Moker, J S; Clark, E.G.; Shewfelt, R

    1998-01-01

    Using histology, a coat color abnormality and the subsequent hair loss were diagnosed as black hair follicular dysplasia. A pedigree analysis of an affected litter and literature review suggests that this is inherited as an autosomal recessive trait. The melanocyte stimulating hormone receptor gene is ruled out by using linkage analysis.

  5. Genetics Home Reference: autosomal recessive spastic ataxia of Charlevoix-Saguenay

    Science.gov (United States)

    ... Genetics Home Health Conditions ARSACS autosomal recessive spastic ataxia of Charlevoix-Saguenay Enable Javascript to view the ... Open All Close All Description Autosomal recessive spastic ataxia of Charlevoix-Saguenay , more commonly known as ARSACS , ...

  6. Caroli′s syndrome with autosomal recessive polycystic kidney disease

    OpenAIRE

    Prithi Shenoy; Syed Ahmed Zaki; Preeti Shanbag; Swapnil Bhongade

    2014-01-01

    Caroli′s syndrome (CS) is a rare congenital disorder characterized by multiple segmental cystic or saccular dilatations of the intrahepatic bile ducts and congenital hepatic fibrosis. We report a 9-year-old boy who was diagnosed with CS and autosomal recessive poly-cystic kidney disease. On screening, his 5-month-old asymptomatic sister had multiple dilated biliary radicals with multiple bilateral renal cystic lesions. Both the patient and the affected sibling have been advised regular follow...

  7. NEW BEST1 MUTATIONS IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY

    Science.gov (United States)

    FUNG, ADRIAN T.; YZER, SUZANNE; GOLDBERG, NAOMI; WANG, HAO; NISSEN, MICHAEL; GIOVANNINI, ALFONSO; MERRIAM, JOANNA E.; BUKANOVA, ELENA N.; CAI, CAROLYN; YANNUZZI, LAWRENCE A.; TSANG, STEPHEN H.; ALLIKMETS, RANDO

    2015-01-01

    Purpose To report the ocular phenotype in patients with autosomal recessive bestrophinopathy and carriers, and to describe novel BEST1 mutations. Methods Patients with clinically suspected and subsequently genetically proven autosomal recessive bestrophinopathy underwent full ophthalmic examination and investigation with fundus autofluorescence imaging, spectral domain optical coherence tomography, electroretinography, and electrooculography. Mutation analysis of the BEST1 gene was performed through direct Sanger sequencing. Results Five affected patients from four families were identified. Mean age was 16 years (range, 6–42 years). All affected patients presented with reduced visual acuity and bilateral, hyperautofluorescent subretinal yellowish deposits within the posterior pole. Spectral domain optical coherence tomography demonstrated submacular fluid and subretinal vitelliform material in all patients. A cystoid maculopathy was seen in all but one patient. In 1 patient, the location of the vitelliform material was seen to change over a follow-up period of 3 years despite relatively stable vision. Visual acuity and fundus changes were unresponsive to topical and systemic carbonic anhydrase inhibitors and systemic steroids. Carriers had normal ocular examinations including normal fundus autofluorescence. Three novel mutations were detected. Conclusion Three novel BEST1 mutations are described, suggesting that many deleterious variants in BEST1 resulting in haploinsufficiency are still unknown. Mutations causing autosomal recessive bestrophinopathy are mostly located outside of the exons that usually harbor vitelliform macular dystrophy–associated dominant mutations. PMID:25545482

  8. Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia

    DEFF Research Database (Denmark)

    Hellström Pigg, Maritta; Bygum, Anette; Gånemo, Agneta;

    2016-01-01

    Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of cornification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). A 4th subtype has also been proposed: pleomorphic...... ichthyosis (PI), characterized by marked skin changes at birth and subsequently mild symptoms. In nationwide screenings of suspected cases of ARCI in Denmark and Sweden, we identified 132 patients (age range 0.1-86 years) classified as HI (n = 7), LI (n = 70), CIE (n = 17) and PI (n = 38). At birth...

  9. Mutations of the tyrosinase gene produce autosomal recessive ocular albinism

    Energy Technology Data Exchange (ETDEWEB)

    King, R.A.; Summers, C.G.; Oetting, W.S. [Univ. of Minnesota, Minneapolis, MN (United States)] [and others

    1994-09-01

    Albinism has historically been divided into ocular (OA) and oculocutaneous (OCA) types based on the presence or absence of clinically apparent skin and hair involvement in an individual with the ocular features of albinism. The major genes for OCA include the tyrosinase gene in OCA1 and the P gene in OCA2. X-linked and autosomal recessive OA have been described and the responsible genes have not been identified. We now present six Caucasian individuals who have the phenotype of autosomal recessive OA but who have OCA1 as shown by the presence of mutations of the tyrosinase. They had white or very light hair and white skin at birth, and cutaneous pigment developed in the first decade of life. At ages ranging from 1.5-23 years, hair color was dark blond to light brown. The skin had generalized pigment and well developed tan was present on the exposed arm and face skin of four. Iris pigment was present and iris translucency varied. Molecular analysis of the tyrosinase gene, using PCR amplification and direct di-deoxy sequencing showed the following mutations: E398Z/E398Q, P406S/g346a, R402E/T373K, ?/D383N, and H211N/T373K. The homozygous individual was not from a known consanguineous mating. T373K is the most common tyrosinase gene mutation in our laboratory. Three of these mutations are associated with a total loss of tyrosinase activity (g346a splice-site, T373K, and D383N), while four are associated with residual enzyme activity (H211N, R402E, E398Q, and P406S). These studies show that mutations of the tyrosinase gene can produce the phenotype of autosomal recessive OA in an individual who has normal amounts of cutaneous pigment and the ability to tan after birth. This extends the phenotypic range of OCA1 to normal cutaneous pigment after early childhood, and suggest that mutations of the tyrosinase gene account for a significant number of individuals with autosomal recessive OA.

  10. Autosomal recessive polycystic kidney disease. A case report.

    Directory of Open Access Journals (Sweden)

    Hernando Diocaretz V

    2015-01-01

    Full Text Available INTRODUCTION: Polycystic Kidney Disease is a genetic disorder characterized by progressive cystic dilations of the renal ducts, presenting as autosomal dominant or recessive forms with an incidence of 1 in 1.000 and 1 in 20.000 births, respectively, according to international series. The autosomal recessive variety can be lethal in the neonatal period due to respiratory failure secondary to pulmonary hypoplasia and can manifest during childhood with hypertension, short stature and complications of portal hypertension. CASE REPORT: 3 years and 11 months old preschoolar with antecedent of fetal growth restriction and oligohydramnios during prenatal period, and a history of asthenia, pallor and progressive feeding difficulty with postprandial vomiting. Physical examination shows cardiac bruit, hypertension, splenomegaly, caput medusae and short stature. Laboratory tests with peripheral pancytopenia; abdominal ultrasonography showed hepatosplenomegaly, findings consistent with autosomal recessive polycystic kidney disease and periportal fibrosis; renal scintigraphy with bilateral kidney failure; a positive fecal occult blood test; an upper endoscopy that shows small esophageal varices; a hand radiography that shows bone age delayed and an echocardiography with cardiomegaly. DISCUSSION: This infrequent disease requires a high degree of suspicion by the clinician and presents with portal hypertension, with platelet count being the best predictor of severity. This condition has no cure and will progress to end-stage renal disease in any moment, so the aim is to minimize and treat renal and hepatic complications.

  11. A novel deletion mutation in ASPM gene in an Iranian family with autosomal recessive primary microcephaly

    Directory of Open Access Journals (Sweden)

    Elinaz AKBARIAZAR

    2013-06-01

    , Springell K, Corry P, Abramowicz MJ, et al. Protein-Truncating Mutations in< i> ASPM Cause Variable Reduction in Brain Size. The American Journal of Human Genetics 2003;73(5:1170-7.26. Pichon B, Vankerckhove S, Bourrouillou G, Duprez L, Abramowicz MJ. A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly. European journal of Human Genetics 2004;12(5:419-21.27. Garshasbi.M, Motazacker M, Kahrizi K, Behjati F, Abedini S, Nieh S, et al. SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum Genet 2006 Feb;118(6:708-15.28. Jackson A, McHale D, Campbell D, Jafri H, Rashid Y, Mannan J, et al. Primary autosomal recessive microcephaly (MCPH1 maps to chromosome 8p22-pter. Am J Hum Genet 1998 Aug;63(2:541-6.29. Moynihan L, Jackson A, Roberts E, Karbani G, Lewis I, Corry P, et al. A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. Am J Hum Genet 2000 Feb;66(2:724-7.30. Bond J, Roberts E, Springell K, Lizarraga S, Scott S, Higgins J, et al. A centrosomalmechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet.2005 Apr;37(4:353-5. Nat Genet 2005 Apr;37(4:353-5.31. Jamieson C, Govaerts C, Abramowicz M, J. Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. Am J Hum Genet. 1999;65:1465-9.

  12. Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly

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    Marine Barbelanne

    2014-01-01

    Full Text Available Autosomal recessive primary microcephaly (MCPH is a rare hereditary neurodevelopmental disorder characterized by a marked reduction in brain size and intellectual disability. MCPH is genetically heterogeneous and can exhibit additional clinical features that overlap with related disorders including Seckel syndrome, Meier-Gorlin syndrome, and microcephalic osteodysplastic dwarfism. In this review, we discuss the key proteins mutated in MCPH. To date, MCPH-causing mutations have been identified in twelve different genes, many of which encode proteins that are involved in cell cycle regulation or are present at the centrosome, an organelle crucial for mitotic spindle assembly and cell division. We highlight recent findings on MCPH proteins with regard to their role in cell cycle progression, centrosome function, and early brain development.

  13. Connexin 26 and autosomal recessive non-syndromic hearing loss

    Directory of Open Access Journals (Sweden)

    Mukherjee Monisha

    2003-01-01

    Full Text Available Prelingual deafness occurs with a frequency of 1 in 1000 live births and is divided into syndromic and non-syndromic forms contributing 40 and 60% respectively. Autosomal recessive non-syndromic hearing loss (ARNSHL is responsible for 80% cases of childhood deafness. Nearly all genes localized for ARNSHL cause prelingual, severe to profound, sensorineural hearing impairment. ARNSHL is genetically heterogeneous and at least 39 loci have been identified. The most significant finding to date has been the discovery of mutations in GJB2 gene at the DFNB1 locus on chromosome 13q12 as the major cause of profound prelingual deafness. This was first reported in a Tunisian family in 1994 and thereafter in many different countries. GJB2 gene encodes the gap-junction protein, connexin 26 (Cx26, mutations in which have become the first genetic marker of inherited hearing loss. Allele-specific polymerase chain reaction (AS-PCR, single stranded conformation polymorphism (SSCP and sequencing methods have been developed for the detection of mutations in Cx26 gene. In India as well, the Cx26 mutations are being screened in families with hearing impaired children using these molecular methods. Therefore, in order to create awareness among the clinicians and the affected families; we have attempted to review the Cx26 gene mutations responsible for autosomal recessive type of non-syndromic hearing loss. The efficacy and utility of Cx26 gene analysis might open the path to proper counseling of families for carrier detection and prenatal diagnosis. It may even facilitate the development of strategies in future for the treatment of this common genetic disorder.

  14. Autosomal recessive primary microcephaly (MCPH: clinical manifestations, genetic heterogeneity and mutation continuum

    Directory of Open Access Journals (Sweden)

    Hassan Muhammad J

    2011-06-01

    Full Text Available Abstract Autosomal Recessive Primary Microcephaly (MCPH is a rare disorder of neurogenic mitosis characterized by reduced head circumference at birth with variable degree of mental retardation. In MCPH patients, brain size reduced to almost one-third of its original volume due to reduced number of generated cerebral cortical neurons during embryonic neurogensis. So far, seven genetic loci (MCPH1-7 for this condition have been mapped with seven corresponding genes (MCPH1, WDR62, CDK5RAP2, CEP152, ASPM, CENPJ, and STIL identified from different world populations. Contribution of ASPM and WDR62 gene mutations in MCPH World wide is more than 50%. By and large, primary microcephaly patients are phenotypically indistinguishable, however, recent studies in patients with mutations in MCPH1, WDR62 and ASPM genes showed a broader clinical and/or cellular phenotype. It has been proposed that mutations in MCPH genes can cause the disease phenotype by disturbing: 1 orientation of mitotic spindles, 2 chromosome condensation mechanism during embryonic neurogenesis, 3 DNA damage-response signaling, 4 transcriptional regulations and microtubule dynamics, 5 certain unknown centrosomal mechanisms that control the number of neurons generated by neural precursor cells. Recent discoveries of mammalian models for MCPH have open up horizons for researchers to add more knowledge regarding the etiology and pathophysiology of MCPH. High incidence of MCPH in Pakistani population reflects the most probable involvement of consanguinity. Genetic counseling and clinical management through carrier detection/prenatal diagnosis in MCPH families can help reducing the incidence of this autosomal recessive disorder.

  15. Autosomal recessive multiple pterygium syndrome: a new variant?

    Science.gov (United States)

    Aslan, Y; Erduran, E; Kutlu, N

    2000-07-31

    Multiple pterygium syndromes include at least 15 different entities characterized by multiple pterygia or webs of the skin and multiple congenital anomalies. We describe a female infant who presented with a distinct constellation of multiple anomalies consisting of pterygia of the inguinal, intercrural and popliteal areas, flexion contractures and arthrogryposis of some joints, craniofacial anomalies including ectropion, medial canthal web, blepharophimosis, hypoplasia of nose, oral and nasopharyngeal cavities, vocal cords and tongue, micrognathia, orolabial synechiae secondary to pterygia, low set ears, alopecia, sad and expressionless face, short neck, asymmetric nipples, anal stenosis, rectal polyp, hypoplastic labia majora, complete syndactyly of all fingers and toes, pes equinovarus, bandlike web between feet, and absence of the nails and phalangeal-palmar creases. Radiological examination showed synostosis, absence or hypoplasia of metacarpal, metatarsal and phalangeal bones on feet and hands, and hypoplasia of pelvic bones and scapulae. This pattern of anomalies does not fit entirely any of the known multiple pterygium syndromes. Autosomal recessive inheritance is most likely due to the presence of three similarly affected siblings and normal parents. PMID:10925380

  16. FOXE3 plays a significant role in autosomal recessive microphthalmia.

    Science.gov (United States)

    Reis, Linda M; Tyler, Rebecca C; Schneider, Adele; Bardakjian, Tanya; Stoler, Joan M; Melancon, Serge B; Semina, Elena V

    2010-03-01

    FOXE3 forkhead transcription factor is essential to lens development in vertebrates. The eyes of Foxe3/foxe3-deficient mice and zebrafish fail to develop normally. In humans, autosomal dominant and recessive mutations in FOXE3 have been associated with variable phenotypes including anterior segment anomalies, cataract, and microphthalmia. We undertook sequencing of FOXE3 in 116 probands with a spectrum of ocular defects ranging from anterior segment dysgenesis and cataract to anophthalmia/microphthalmia. Recessive mutations in FOXE3 were found in four of 26 probands affected with bilateral microphthalmia (15% of all bilateral microphthalmia and 100% of consanguineous families with this phenotype). FOXE3-positive microphthalmia was accompanied by aphakia and/or corneal defects; no other associated systemic anomalies were observed in FOXE3-positive families. The previously reported c.720C > A (p.C240X) nonsense mutation was identified in two additional families in our sample and therefore appears to be recurrent, now reported in three independent microphthalmia families of varied ethnic backgrounds. Several missense variants were identified at varying frequencies in patient and control groups with some apparently being race-specific, which underscores the importance of utilizing race/ethnicity-matched control populations in evaluating the relevance of genetic screening results. In conclusion, FOXE3 mutations represent an important cause of nonsyndromic autosomal recessive bilateral microphthalmia.

  17. An exome sequencing strategy to diagnose lethal autosomal recessive disorders.

    Science.gov (United States)

    Ellard, Sian; Kivuva, Emma; Turnpenny, Peter; Stals, Karen; Johnson, Matthew; Xie, Weijia; Caswell, Richard; Lango Allen, Hana

    2015-03-01

    Rare disorders resulting in prenatal or neonatal death are genetically heterogeneous. For some conditions, affected fetuses can be diagnosed by ultrasound scan, but this is not usually possible until mid-gestation. There is often limited fetal DNA available for investigation. We investigated a strategy for diagnosing autosomal recessive lethal disorders in non-consanguineous pedigrees with multiple affected fetuses. Exome sequencing was performed to identify genes where each parent is heterozygous for a rare non-synonymous-coding or splicing variant. Putative pathogenic variants were tested for cosegregation in affected fetuses and unaffected siblings. In eight couples of European ancestry, we found on average 1.75 genes (range 0-4) where both parents were heterozygous for rare potentially deleterious variants. A proof-of-principle study detected heterozygous DYNC2H1 variants in a couple whose five fetuses had short-rib polydactyly. Prospective analysis of two couples with multiple pregnancy terminations for fetal akinesia syndrome was performed and a diagnosis was obtained in both the families. The first couple were each heterozygous for a previously reported GLE1 variant, p.Arg569His or p.Val617Met; both were inherited by their two affected fetuses. The second couple were each heterozygous for a novel RYR1 variant, c.14130-2A>G or p.Ser3074Phe; both were inherited by their three affected fetuses but not by their unaffected child. Biallelic GLE1 and RYR1 disease-causing variants have been described in other cases with fetal akinesia syndrome. We conclude that exome sequencing of parental samples can be an effective tool for diagnosing lethal recessive disorders in outbred couples. This permits early prenatal diagnosis in future pregnancies.

  18. The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.

    Science.gov (United States)

    Schinzel, A

    1988-05-01

    First cousins, related through their mothers, showed a pattern of craniofacial, brain, and limb anomalies consistent with the acrocallosal syndrome. Both patients had a defect of the corpus callosum, macrocephaly with a protruding forehead and occiput, hypertelorism, non-horizontal palpebral fissures, a small nose, notched ear lobes, and postaxial polydactyly of the hands. The boy, in addition, had hypospadias, cryptorchidism, inguinal hernias, duplication with syndactyly of the phalanges of the big toe, and a bipartite right clavicle. The girl had an arachnoidal cyst, a calvarian defect, and digitalisation of the thumbs. Motor and mental development was retarded in both patients. This observation provides further evidence of probable autosomal recessive inheritance of the acrocallosal syndrome and widens the spectrum of clinical findings and the variability of features in this rare malformation syndrome. PMID:3385741

  19. DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism

    NARCIS (Netherlands)

    V. Bonifati (Vincenzo); F. Squitieri (Ferdinando); E. Krieger (Elmar); N. Vanacore (Nicola); J.C. van Swieten; A. Brice; C.M. van Duijn (Cock); G. Meco (Giuseppe); P. Heutink (Peter); B.A. Oostra (Ben); P. Rizzu (Patrizia)

    2003-01-01

    textabstractFour chromosomal loci ( PARK2, PARK6, PARK7, and PARK9) associated with autosomal recessive, early onset parkinsonism are known. We mapped the PARK7 locus to chromosome 1p36 in a large family from a genetically isolated population in the Netherlands, and confirmed this linkage in an Ital

  20. Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

    NARCIS (Netherlands)

    C. Sevin; S. Ferdinandusse; H.R. Waterham; R.J. Wanders; P. Aubourg

    2011-01-01

    ABSTRACT: OBJECTIVE: To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA). Case report: Two brothers are described who developed progressive cerebellar ataxia at 3 1/2 and 18 years, respectively. After ruling out known common genetic causes of ARCA, analysis of bl

  1. Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis

    DEFF Research Database (Denmark)

    Gribouval, Olivier; Morinière, Vincent; Pawtowski, Audrey;

    2012-01-01

    Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Early death occurs in most cases from anuri...... and histological analyses and the characterization of the genetic defects allow genetic counseling and early prenatal diagnosis....

  2. Progeria (Hutchison - Gilford syndrome in siblings: In an autosomal recessive pattern of inheritance

    Directory of Open Access Journals (Sweden)

    Raghu Tanjore

    2001-09-01

    Full Text Available Progeria is an autosomal dominant, premature aging syndrome. Six and three year old female siblings had sclcrodermatous changes over the extremities, alopecia, beaked nose, prominent veins and bird-like facies. Radiological features were consistent with features of progeria. The present case highlights rarity of progeria in siblings with a possible autosomal recessive pattern.

  3. Progeria (Hutchison-Gilford syndrome) in siblings: in an autosomal recessive pattern of inheritance.

    Science.gov (United States)

    Raghu, T Y; Venkatesulu, G A; Kantharaj, G R; Suresh, T; Veeresh, V; Hanumanthappa, Y

    2001-01-01

    Progeria is an autosomal dominant, premature aging syndrome. Six and three year old female siblings had sclerodermatous changes over the extremities, alopecia, beaked nose, prominent veins and bird-like facies. Radiological features were consistent with features of progeria. The present case highlights rarity of progeria in siblings with a possible autosomal recessive pattern.

  4. A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia.

    NARCIS (Netherlands)

    Kohl, S.; Coppieters, F.; Meire, F.; Schaich, S.; Roosing, S.; Brennenstuhl, C.; Bolz, S.; Genderen, M.M. van; Riemslag, F.C.; Lukowski, R.; Hollander, A.I. den; Cremers, F.P.M.; Baere, E. de; Hoyng, C.B.; Wissinger, B.

    2012-01-01

    Achromatopsia (ACHM) is an autosomal-recessive retinal dystrophy characterized by color blindness, photophobia, nystagmus, and severely reduced visual acuity. Its prevalence has been estimated to about 1 in 30,000 individuals. Four genes, GNAT2, PDE6C, CNGA3, and CNGB3, have been implicated in ACHM,

  5. Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease

    NARCIS (Netherlands)

    A. Reuss (Annette); J.W. Wladimiroff (Juriy); P.A. Stewart (Patricia); M.F. Niermeijer (Martinus)

    1990-01-01

    markdownabstractAbstract In 15 pregnancies at risk of the autosomal recessive type of polycystic kidney disease (ARPKD), there were six recurrences (40%), five of which were diagnosed prenatally between 17 and 26 weeks (mean, 22 weeks). In the remaining affected case, normal kidney size and echoge

  6. An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).

    Science.gov (United States)

    Giannotti, A; Digilio, M C; Mingarelli, R; Dallapiccola, B

    1995-01-01

    We report a brother and sister affected by a constellation of malformations, including cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). A similar association has been reported previously by Richieri-Costa and Orquizas in a male patient born to consanguineous parents. An autosomal recessive pattern of inheritance is proposed for this syndrome. Images PMID:7897634

  7. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

    NARCIS (Netherlands)

    Kohl, S.; Varsanyi, B.; Antunes, G.A.; Baumann, B.; Hoyng, C.B.; Jagle, H.; Rosenberg, T.; Kellner, U.; Lorenz, B.; Salati, R.; Jurklies, B.; Farkas, A.; Andreasson, S.; Weleber, R.G.; Jacobson, S.G.; Rudolph, G.; Castellan, C.; Dollfus, H.; Legius, E.; Anastasi, M.; Bitoun, P.; Lev, D.; Sieving, P.A.; Munier, F.L.; Zrenner, E.; Sharpe, L.T.; Cremers, F.P.M.; Wissinger, B.

    2005-01-01

    Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum

  8. An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).

    OpenAIRE

    Giannotti, A; Digilio, M C; Mingarelli, R; Dallapiccola, B.

    1995-01-01

    We report a brother and sister affected by a constellation of malformations, including cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). A similar association has been reported previously by Richieri-Costa and Orquizas in a male patient born to consanguineous parents. An autosomal recessive pattern of inheritance is proposed for this syndrome.

  9. Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene

    NARCIS (Netherlands)

    K. Nikopoulos (Konstantinos); I. Schrauwen (Isabelle); M.E.H. Simon (Marleen); R.W.J. Collin (Rob); M.A.H. Veckeneer (Marc); K. Keymolen (Kathelijn); G. van Camp (Guy); F.P.M. Cremers (Frans); L. Ingeborgh van den Born

    2011-01-01

    textabstractPurpose. To investigate COL9A1 in two families suggestive of autosomal recessive Stickler syndrome and to delineate the associated phenotype. Methods. The probands of two consanguineous autosomal recessive Stickler families were evaluated for homozygosity using SNP microarray in one and

  10. Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene

    NARCIS (Netherlands)

    Nikopoulos, K.; Schrauwen, I.; Simon, M.; Collin, R.W.J.; Veckeneer, M.; Keymolen, K.; Camp, G. van; Cremers, F.P.M.; Born, L.I. van den

    2011-01-01

    PURPOSE: To investigate COL9A1 in two families suggestive of autosomal recessive Stickler syndrome and to delineate the associated phenotype. METHODS: The probands of two consanguineous autosomal recessive Stickler families were evaluated for homozygosity using SNP microarray in one and haplotype an

  11. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

    Science.gov (United States)

    Montecchiani, Celeste; Pedace, Lucia; Lo Giudice, Temistocle; Casella, Antonella; Mearini, Marzia; Gaudiello, Fabrizio; Pedroso, José L; Terracciano, Chiara; Caltagirone, Carlo; Massa, Roberto; St George-Hyslop, Peter H; Barsottini, Orlando G P; Kawarai, Toshitaka; Orlacchio, Antonio

    2016-01-01

    Charcot-Marie-Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes. Hundreds of causative DNA changes have been found, but much of the genetic basis of the disease is still unexplained. Mutations in the ALS5/SPG11/KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and peripheral axonal neuropathy, and account for ∼ 40% of autosomal recessive juvenile amyotrophic lateral sclerosis. The overlap of axonal Charcot-Marie-Tooth disease with both diseases, as well as the common autosomal recessive inheritance pattern of thin corpus callosum and axonal Charcot-Marie-Tooth disease in three related patients, prompted us to analyse the ALS5/SPG11/KIAA1840 gene in affected individuals with autosomal recessive axonal Charcot-Marie-Tooth disease. We investigated 28 unrelated families with autosomal recessive axonal Charcot-Marie-Tooth disease defined by clinical, electrophysiological, as well as pathological evaluation. Besides, we screened for all the known genes related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/MED25, CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum (SLC12A6). Mitochondrial disorders related to Charcot-Marie-Tooth disease type 2 were also excluded by sequencing POLG and TYMP genes. An additional locus for autosomal recessive Charcot

  12. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism

    DEFF Research Database (Denmark)

    Grønskov, Karen; Dooley, Christopher M; Østergaard, Elsebet;

    2013-01-01

    Autosomal-recessive albinism is a hypopigmentation disorder with a broad phenotypic range. A substantial fraction of individuals with albinism remain genetically unresolved, and it has been hypothesized that more genes are to be identified. By using homozygosity mapping of an inbred Faroese family......, we identified a 3.5 Mb homozygous region (10q22.2-q22.3) on chromosome 10. The region contains five protein-coding genes, and sequencing of one of these, C10orf11, revealed a nonsense mutation that segregated with the disease and showed a recessive inheritance pattern. Investigation of additional...... albinism-affected individuals from the Faroe Islands revealed that five out of eight unrelated affected persons had the nonsense mutation in C10orf11. Screening of a cohort of autosomal-recessive-albinism-affected individuals residing in Denmark showed a homozygous 1 bp duplication in C10orf11...

  13. Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.

    Science.gov (United States)

    Digilio, M C; Marino, B; Giannotti, A; Dallapiccola, B

    1997-01-01

    We report on three sibs born to healthy parents, one livebirth and two terminated pregnancies, presenting with a malformation complex characterised by conotruncal heart defect (CTHD), microphthalmia, genital anomalies, and facial dysmorphism. The recurrence of the association of CTHD, particularly truncus arteriosus, and microphthalmia in sibs has previously been reported in rare instances, but a correlation between the single descriptions has never been noted. CTHDs are included among the cardiac malformations characteristically associated with the group of syndromes caused by the microdeletion of chromosome 22q11, but no detectable hemizygosity has been found in our family. An autosomal recessive gene seems to be involved in syndromic patients with the combination of CTHD and microphthalmia. The map location of this gene is at present unknown, but autosomal recessive inheritance must be considered in genetic counselling of families with children presenting with this malformation complex. PMID:9391888

  14. Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder

    Energy Technology Data Exchange (ETDEWEB)

    Landau, D.; Shalev, H.; Carmi, Rivka; Ohaly, M. [Univ. of the Negev, Ashkelon (Israel)

    1995-12-04

    The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS. 35 refs., 2 figs., 2 tabs.

  15. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.

    OpenAIRE

    Grall, Anaïs; Guaguère, Eric; Planchais, Sandrine; Grond, Susanne; Bourrat, Emmanuelle; Hausser, Ingrid; Hitte, Christophe; Le Gallo, Matthieu; Derbois, Céline; Kim, Gwang-Jin; Lagoutte, Laëtitia; Degorce-Rubiales, Frédérique; Radner, Franz,; Thomas, Anne; Küry, Sébastien

    2012-01-01

    International audience Ichthyoses comprise a heterogeneous group of genodermatoses characterized by abnormal desquamation over the whole body, for which the genetic causes of several human forms remain unknown. We used a spontaneous dog model in the golden retriever breed, which is affected by a lamellar ichthyosis resembling human autosomal recessive congenital ichthyoses (ARCI), to carry out a genome-wide association study. We identified a homozygous insertion-deletion (indel) mutation i...

  16. TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

    OpenAIRE

    Audo, Isabelle; Kohl, Susanne; Leroy, Bart P.; Munier, Francis L.; Guillonneau, Xavier; Mohand-Saïd, Saddek; Bujakowska, Kinga; Nandrot, Emeline F.; Lorenz, Birgit; Preising, Markus; Kellner, Ulrich; Renner, Agnes B.; Bernd, Antje; Antonio, Aline; Moskova-Doumanova, Veselina

    2009-01-01

    Night vision requires signaling from rod photoreceptors to adjacent bipolar cells in the retina. Mutations in the genes NYX and GRM6, expressed in ON bipolar cells, lead to a disruption of the ON bipolar cell response. This dysfunction is present in patients with complete X-linked and autosomal-recessive congenital stationary night blindness (CSNB) and can be assessed by standard full-field electroretinography (ERG), showing severely reduced rod b-wave amplitude and slightly altered cone resp...

  17. A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

    Directory of Open Access Journals (Sweden)

    D. Vaigundan

    2014-01-01

    Full Text Available Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1 observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis. Structural consequences of this mutation are hypothesized in comparison to homologous enzyme human factor XIIIA accepted as valid in similar structural analysis and are projected as guidelines for future studies at an experimental level on TGM1 thus mutated.

  18. Macroepiphyseal dysplasia with symptomatic osteoporosis, wrinkled skin, and aged appearance: A presumed autosomal recessive condition

    Energy Technology Data Exchange (ETDEWEB)

    McAlister, W.H.; Coe, J.D.; Whyte, M.P.

    1986-01-01

    We report our detailed investigation of a 7-1/2-year-old girl with short stature, aged appearance, decreased subcutaneous fat and muscle mass, dry coarse hair, foot deformities, macroepiphyses with prominent but lax joints, and osteoporosis with recurrent fractures who is the offspring of first cousins. This constellation of abnormalities differs from previously reported cases where macroepiphyses were a prominent finding. Our patient appears, therefore, to have a new, autosomal recessively inherited, syndrome.

  19. Improved Structure and Function in Autosomal Recessive Polycystic Rat Kidneys with Renal Tubular Cell Therapy.

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    K J Kelly

    Full Text Available Autosomal recessive polycystic kidney disease is a truly catastrophic monogenetic disease, causing death and end stage renal disease in neonates and children. Using PCK female rats, an orthologous model of autosomal recessive polycystic kidney disease harboring mutant Pkhd1, we tested the hypothesis that intravenous renal cell transplantation with normal Sprague Dawley male kidney cells would improve the polycystic kidney disease phenotype. Cytotherapy with renal cells expressing wild type Pkhd1 and tubulogenic serum amyloid A1 had powerful and sustained beneficial effects on renal function and structure in the polycystic kidney disease model. Donor cell engraftment and both mutant and wild type Pkhd1 were found in treated but not control PCK kidneys 15 weeks after the final cell infusion. To examine the mechanisms of global protection with a small number of transplanted cells, we tested the hypothesis that exosomes derived from normal Sprague Dawley cells can limit the cystic phenotype of PCK recipient cells. We found that renal exosomes originating from normal Sprague Dawley cells carried and transferred wild type Pkhd1 mRNA to PCK cells in vivo and in vitro and restricted cyst formation by cultured PCK cells. The results indicate that transplantation with renal cells containing wild type Pkhd1 improves renal structure and function in autosomal recessive polycystic kidney disease and may provide an intra-renal supply of normal Pkhd1 mRNA.

  20. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.

    Science.gov (United States)

    Grønskov, Karen; Dooley, Christopher M; Østergaard, Elsebet; Kelsh, Robert N; Hansen, Lars; Levesque, Mitchell P; Vilhelmsen, Kaj; Møllgård, Kjeld; Stemple, Derek L; Rosenberg, Thomas

    2013-03-01

    Autosomal-recessive albinism is a hypopigmentation disorder with a broad phenotypic range. A substantial fraction of individuals with albinism remain genetically unresolved, and it has been hypothesized that more genes are to be identified. By using homozygosity mapping of an inbred Faroese family, we identified a 3.5 Mb homozygous region (10q22.2-q22.3) on chromosome 10. The region contains five protein-coding genes, and sequencing of one of these, C10orf11, revealed a nonsense mutation that segregated with the disease and showed a recessive inheritance pattern. Investigation of additional albinism-affected individuals from the Faroe Islands revealed that five out of eight unrelated affected persons had the nonsense mutation in C10orf11. Screening of a cohort of autosomal-recessive-albinism-affected individuals residing in Denmark showed a homozygous 1 bp duplication in C10orf11 in an individual originating from Lithuania. Immunohistochemistry showed localization of C10orf11 in melanoblasts and melanocytes in human fetal tissue, but no localization was seen in retinal pigment epithelial cells. Knockdown of the zebrafish (Danio rerio) homolog with the use of morpholinos resulted in substantially decreased pigmentation and a reduction of the apparent number of pigmented melanocytes. The morphant phenotype was rescued by wild-type C10orf11, but not by mutant C10orf11. In conclusion, we have identified a melanocyte-differentiation gene, C10orf11, which when mutated causes autosomal-recessive albinism in humans.

  1. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism

    DEFF Research Database (Denmark)

    Grønskov, Karen; Ek, Jakob; Sand, Annie;

    2009-01-01

    PURPOSE: The study was initiated to investigate the mutation spectrum of four OCA genes and to calculate the birth prevalence in patients with autosomal recessive albinism. METHODS: Mutation analysis using dHPLC or direct DNA sequencing of TYR, OCA2, TYRP1, and MATP was performed in 62 patients...... recessive ocular albinism (AROA) based on clinical findings was 55 to 45. CONCLUSIONS: TYR is the major OCA gene in Denmark, but several patients do not have mutations in the investigated genes. A relatively large fraction of patients were observed with AROA, and of those 52% had no mutations compared...

  2. Orofacial Manifestations of Autosomal Recessive Robinow's Syndrome: A Rare Case Report.

    Science.gov (United States)

    Mali, Santosh; Bansal, Neha; Dhokar, Amol; Yadav, Monica

    2016-03-01

    Robinow's syndrome is a very rare genetic disorder which bears a resemblance to a foetal face. It is characterized by short-limbed dwarfism, defects in vertebral segmentation and abnormalities in the head, face and external genitalia. It has a genetic heterogeneity with autosomal dominant and recessive forms which relates to the severity of phenotype presentation. A rare case of an autosomal recessive form of Robinow's syndrome is presented with emphasis on, characteristic craniofacial and intraoral manifestations to aid in diagnosis and dental management of this patient. PMID:27135013

  3. Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome.

    Science.gov (United States)

    Bustos, T; Simosa, V; Pinto-Cisternas, J; Abramovits, W; Jolay, L; Rodriguez, L; Fernandez, L; Ramela, M

    1991-12-15

    We describe 27 individuals of 7 families related to each other with high probability who showed manifestations of ectodermal dysplasia and other anomalies affecting females as severely as males with variable expressivity. All parents were normal. These families were detected in a relatively isolated and inbred population with very small neighbouring communities from a Caribbean Sea island, Margarita Island, in Northeastern Venezuela (Nueva Esparta State). The clinical picture common to all patients could not be classified within the heterogeneous group of known ectodermal dysplasias and the published cases do not resemble our patients. We believe that this condition constitutes a newly recognized autosomal recessive dysplasia/malformation syndrome of ectodermal dysplasia. PMID:1776626

  4. Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).

    Science.gov (United States)

    Bichet, Daniel G; Bockenhauer, Detlef

    2016-03-01

    Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). Polyuria with hyposthenuria and polydipsia are the cardinal clinical manifestations of the disease. About 90% of patients with congenital NDI are males with X-linked NDI who have mutations in the vasopressin V2 receptor (AVPR2) gene encoding the vasopressin V2 receptor. In less than 10% of the families studied, congenital NDI has an autosomal recessive or autosomal dominant mode of inheritance with mutations in the aquaporin-2 (AQP2) gene. When studied in vitro, most AVPR2 and AQP2 mutations lead to proteins trapped in the endoplasmic reticulum and are unable to reach the plasma membrane. Prior knowledge of AVPR2 or AQP2 mutations in NDI families and perinatal mutation testing is of direct clinical value and can avert the physical and mental retardation associated with repeated episodes of dehydration.

  5. A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.

    Science.gov (United States)

    Kohl, Susanne; Coppieters, Frauke; Meire, Françoise; Schaich, Simone; Roosing, Susanne; Brennenstuhl, Christina; Bolz, Sylvia; van Genderen, Maria M; Riemslag, Frans C C; Lukowski, Robert; den Hollander, Anneke I; Cremers, Frans P M; De Baere, Elfride; Hoyng, Carel B; Wissinger, Bernd

    2012-09-01

    Achromatopsia (ACHM) is an autosomal-recessive retinal dystrophy characterized by color blindness, photophobia, nystagmus, and severely reduced visual acuity. Its prevalence has been estimated to about 1 in 30,000 individuals. Four genes, GNAT2, PDE6C, CNGA3, and CNGB3, have been implicated in ACHM, and all encode functional components of the phototransduction cascade in cone photoreceptors. Applying a functional-candidate-gene approach that focused on screening additional genes involved in this process in a cohort of 611 index cases with ACHM or other cone photoreceptor disorders, we detected a homozygous single base change (c.35C>G) resulting in a nonsense mutation (p.Ser12(∗)) in PDE6H, encoding the inhibitory γ subunit of the cone photoreceptor cyclic guanosine monophosphate phosphodiesterase. The c.35C>G mutation was present in three individuals from two independent families with a clinical diagnosis of incomplete ACHM and preserved short-wavelength-sensitive cone function. Moreover, we show through immunohistochemical colocalization studies in mouse retina that Pde6h is evenly present in all retinal cone photoreceptors, a fact that had been under debate in the past. These findings add PDE6H to the set of genes involved in autosomal-recessive cone disorders and demonstrate the importance of the inhibitory γ subunit in cone phototransduction. PMID:22901948

  6. Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Yilu Wang

    Full Text Available BACKGROUND: Hypertrophic cardiomyopathy (HCM due to mutations in genes encoding sarcomere proteins is most commonly inherited as an autosomal dominant trait. Since nearly 50% of HCM cases occur in the absence of a family history, a recessive inheritance pattern may be involved. METHODS: A pedigree was identified with suspected autosomal recessive transmission of HCM. Twenty-six HCM-related genes were comprehensively screened for mutations in the proband with targeted second generation sequencing, and the identified mutation was confirmed with bi-directional Sanger sequencing in all family members and 376 healthy controls. RESULTS: A novel missense mutation (c.1469G>T, p.Gly490Val in exon 17 of MYBPC3 was identified. Two siblings with HCM were homozygous for this mutation, whereas other family members were either heterozygous or wild type. Clinical evaluation showed that both homozygotes manifested a typical HCM presentation, but none of others, including 5 adult heterozygous mutation carriers up to 71 years of age, had any clinical evidence of HCM. CONCLUSIONS: Our data identified a MYBPC3 mutation in HCM, which appeared autosomal recessively inherited in this family. The absence of a family history of clinical HCM may be due to not only a de novo mutation, but also recessive mutations that failed to produce a clinical phenotype in heterozygous family members. Therefore, consideration of recessive mutations leading to HCM is essential for risk stratification and genetic counseling.

  7. Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency.

    Science.gov (United States)

    Mauldin, E A; Wang, P; Evans, E; Cantner, C A; Ferracone, J D; Credille, K M; Casal, M L

    2015-07-01

    A minority of patients with nonsyndromic autosomal recessive congenital ichthyosis (ARCI) display mutations in NIPAL4 (ICHTHYIN). This protein plays a role in epidermal lipid metabolism, although the mechanism is unknown. The study describes a moderate form of ARCI in an extended pedigree of American Bulldogs that is linked to the gene encoding ichthyin. The gross phenotype was manifest as a disheveled pelage shortly after birth, generalized scaling, and adherent brown scale with erythema of the abdominal skin. Pedigree analysis indicated an autosomal recessive mode of inheritance. Ultrastructurally, the epidermis showed discontinuous lipid bilayers, unprocessed lipid within corneocytes, and abnormal lamellar bodies. Linkage analysis, performed by choosing simple sequence repeat markers and single-nucleotide polymorphisms near genes known to cause ACRI, revealed an association with NIPAL4. NIPAL4 was identified and sequenced using standard methods. No mutation was identified within the gene, but affected dogs had a SINE element 5' upstream of exon 1 in a highly conserved region. Of 545 DNA samples from American Bulldogs, 32 dogs (17 females, 15 males) were homozygous for the polymerase chain reaction fragment. All affected dogs were homozygous, with parents heterozygous for the insertion. Immunolabeling revealed an absence of ichthyin in the epidermis. This is the first description of ARCI associated with decreased expression of NIPAL4 in nonhuman species. PMID:25322746

  8. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.

    Science.gov (United States)

    Radner, Franz P W; Marrakchi, Slaheddine; Kirchmeier, Peter; Kim, Gwang-Jin; Ribierre, Florence; Kamoun, Bourane; Abid, Leila; Leipoldt, Michael; Turki, Hamida; Schempp, Werner; Heilig, Roland; Lathrop, Mark; Fischer, Judith

    2013-06-01

    Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene deletion syndrome on chromosome 15q26.3. Genome-wide SNP-genotyping revealed a homozygous region in all affected individuals, including the same microdeletion that partially affects two coding genes (ADAMTS17, CERS3) and abolishes a sequence for a long non-coding RNA (FLJ42289). Whereas mutations in ADAMTS17 have recently been identified in autosomal recessive Weill-Marchesani-like syndrome in humans and dogs presenting with ophthalmologic, cardiac, and skeletal abnormalities, no disease associations have been described for CERS3 (ceramide synthase 3) and FLJ42289 so far. However, analysis of additional patients with non-syndromic ARCI revealed a splice site mutation in CERS3 indicating that a defect in ceramide synthesis is causative for the present skin phenotype of our patients. Functional analysis of patient skin and in vitro differentiated keratinocytes demonstrated that mutations in CERS3 lead to a disturbed sphingolipid profile with reduced levels of epidermis-specific very long-chain ceramides that interferes with epidermal differentiation. Taken together, these data present a novel pathway involved in ARCI development and, moreover, provide the first evidence that CERS3 plays an essential role in human sphingolipid metabolism for the maintenance of epidermal lipid homeostasis. PMID:23754960

  9. A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family

    DEFF Research Database (Denmark)

    Anjum, Iram; Eiberg, Hans; Baig, Shahid Mahmood;

    2010-01-01

    with a clear aphakia phenotype. METHODS: The initial homozygosity screening of the family was extended to all the known autosomal recessive cataract loci in order to exclude the possibility of surgical cataract removal leading to aphakia. The screening was performed using polymorphic nucleotide repeat markers...... known autosomal recessive loci resulted in negative LOD (logarithm of odds) scores. The aphakia phenotype suggested a mutation in FOXE3 close to the AR-locus 1p34.3-p32.2, and sequence analyses revealed the nonsense mutation c.720C>A, changing cysteine 240 to a stop codon. Segregation in the family...

  10. Radiation hypersensitivity of LEC strain rats controlled by a single autosomal recessive gene.

    Science.gov (United States)

    Hayashi, M; Okui, T; Endoh, D; Sato, F; Kasai, N; Namioka, S

    1994-03-01

    LEC strain rats (LEC rats), which are known to develop hereditarily spontaneous fulminant hepatitis 4-5 months after birth, were highly sensitive to whole-body X-irradiation when compared to WKAH strain rats. The radiosensitivity of F1 hybrids of LEC and WKAH rats was similar to that of WKAH rats and significantly lower than that of LEC rats. Segregation data of backcross hybrids (F1 x LEC and LEC x F1) suggested that the hypersensitivity of LEC rats to whole-body irradiation is controlled by a single autosomal recessive gene. The radiosensitivity of fibroblasts from LEC rats was higher than that of fibroblasts from WKAH rats. The repair process of DNA double-strand breaks in LEC cells was slower than that in WKAH cells. LEC rats could provide a useful animal model to assist in understanding the mechanism of radiation-induced DNA damage and repair.

  11. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.

    Science.gov (United States)

    Grall, Anaïs; Guaguère, Eric; Planchais, Sandrine; Grond, Susanne; Bourrat, Emmanuelle; Hausser, Ingrid; Hitte, Christophe; Le Gallo, Matthieu; Derbois, Céline; Kim, Gwang-Jin; Lagoutte, Laëtitia; Degorce-Rubiales, Frédérique; Radner, Franz P W; Thomas, Anne; Küry, Sébastien; Bensignor, Emmanuel; Fontaine, Jacques; Pin, Didier; Zimmermann, Robert; Zechner, Rudolf; Lathrop, Mark; Galibert, Francis; André, Catherine; Fischer, Judith

    2012-02-01

    Ichthyoses comprise a heterogeneous group of genodermatoses characterized by abnormal desquamation over the whole body, for which the genetic causes of several human forms remain unknown. We used a spontaneous dog model in the golden retriever breed, which is affected by a lamellar ichthyosis resembling human autosomal recessive congenital ichthyoses (ARCI), to carry out a genome-wide association study. We identified a homozygous insertion-deletion (indel) mutation in PNPLA1 that leads to a premature stop codon in all affected golden retriever dogs. We subsequently found one missense and one nonsense mutation in the catalytic domain of human PNPLA1 in six individuals with ARCI from two families. Further experiments highlighted the importance of PNPLA1 in the formation of the epidermal lipid barrier. This study identifies a new gene involved in human ichthyoses and provides insights into the localization and function of this yet uncharacterized member of the PNPLA protein family. PMID:22246504

  12. A Linkage Study in 8 Pakistani Families Segregating as Autosomal Recessive Primary Microcephaly

    Directory of Open Access Journals (Sweden)

    M. Hassanullah

    2011-07-01

    Full Text Available The current study was designed to find the most frequent MCPH phenotype in inbred Pakistani families. Primary microcephaly is marked by small brain size and is usually inherited as recessive trait. In the present study, we performed linkage analysis on 8 Pakistani families with autosomal recessive primary microcephaly (MCPH and linked 6 of them to known MCPH genes/loci like MCPH1 (Microcephalin, MCPH3 (CDK5RAP2 and MCPH5 (ASPM. Majority of the families showed linkage with MCPH5, the most common MCPH locus in Pakistan. The linked families were then subjected to mutational analysis, revealing a previously known G to A transition at nucleotide position 3978 in exon 17 of ASPM gene in three of the families. To decrease its incidence, it is indispensible to train the people of the possible devastating outcome of cousin marriages and to find the carriers through carrier screening programs.

  13. Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

    Science.gov (United States)

    Jaureguiberry, Graciana; De la Dure-Molla, Muriel; Parry, David; Quentric, Mickael; Himmerkus, Nina; Koike, Toshiyasu; Poulter, James; Klootwijk, Enriko; Robinette, Steven L.; Howie, Alexander J.; Patel, Vaksha; Figueres, Marie-Lucile; Stanescu, Horia C.; Issler, Naomi; Nicholson, Jeremy K.; Bockenhauer, Detlef; Laing, Christopher; Walsh, Stephen B.; McCredie, David A.; Povey, Sue; Asselin, Audrey; Picard, Arnaud; Coulomb, Aurore; Medlar, Alan J.; Bailleul-Forestier, Isabelle; Verloes, Alain; Le Caignec, Cedric; Roussey, Gwenaelle; Guiol, Julien; Isidor, Bertrand; Logan, Clare; Shore, Roger; Johnson, Colin; Inglehearn, Christopher; Al-Bahlani, Suhaila; Schmittbuhl, Matthieu; Clauss, François; Huckert, Mathilde; Laugel, Virginie; Ginglinger, Emmanuelle; Pajarola, Sandra; Spartà, Giuseppina; Bartholdi, Deborah; Rauch, Anita; Addor, Marie-Claude; Yamaguti, Paulo M.; Safatle, Heloisa P.; Acevedo, Ana Carolina; Martelli-Júnior, Hercílio; dos Santos Netos, Pedro E.; Coletta, Ricardo D.; Gruessel, Sandra; Sandmann, Carolin; Ruehmann, Denise; Langman, Craig B.; Scheinman, Steven J.; Ozdemir-Ozenen, Didem; Hart, Thomas C.; Hart, P. Suzanne; Neugebauer, Ute; Schlatter, Eberhard; Houillier, Pascal; Gahl, William A.; Vikkula, Miikka; Bloch-Zupan, Agnès; Bleich, Markus; Kitagawa, Hiroshi; Unwin, Robert J.; Mighell, Alan; Berdal, Ariane; Kleta, Robert

    2013-01-01

    Background/Aims Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood. Methods We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing. Results All patients had bi-allelic FAM20A mutations segregating with the disease; 20 different mutations were identified. Conclusions This au-tosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis. PMID:23434854

  14. Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC)

    Science.gov (United States)

    Vieira, Alexandre R.; Lee, Moses; Vairo, Filippo; Leite, Julio Cesar Loguercio; Munerato, Maria Cristina; Visioli, Fernanda; D’Ávila, Stéphanie Rodrigues; Wang, Shih-Kai; Choi, Murim; Simmer, James P.; Hu, Jan C-C.

    2015-01-01

    Hyperphosphatemic familial tumoral calcinosis (HFTC, OMIM #211900) is an autosomal recessive metabolic disorder characterized by hyperphosphatemia, tooth root defects, and the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone.1 In this HFTC case report, we document the dental phenotype associated with a homozygous missense mutation (g.29077 C>T; c.484 C>T; p.Arg162*) in GALNT3 (OMIM 6017563), a gene encoding UDP-GalNAc transferase 3 that catalyzes the first step of O-linked oligosaccharide biosynthesis in the Golgi. The medical and dental pathology is believed to be caused primarily by high serum phosphate levels (hyperphosphatemia), which, in turn, is caused by failure of GALNT3 to glycosylate the phosphate regulator protein FGF23, impairing its ability inhibit reabsorption of filtered phosphate in the kidneys. PMID:26337219

  15. Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.

    Science.gov (United States)

    Keupp, Katharina; Li, Yun; Vargel, Ibrahim; Hoischen, Alexander; Richardson, Rebecca; Neveling, Kornelia; Alanay, Yasemin; Uz, Elif; Elcioğlu, Nursel; Rachwalski, Martin; Kamaci, Soner; Tunçbilek, Gökhan; Akin, Burcu; Grötzinger, Joachim; Konas, Ersoy; Mavili, Emin; Müller-Newen, Gerhard; Collmann, Hartmut; Roscioli, Tony; Buckley, Michael F; Yigit, Gökhan; Gilissen, Christian; Kress, Wolfram; Veltman, Joris; Hammerschmidt, Matthias; Akarsu, Nurten A; Wollnik, Bernd

    2013-11-01

    We have characterized a novel autosomal recessive Crouzon-like craniosynostosis syndrome in a 12-affected member family from Antakya, Turkey, the presenting features of which include: multiple suture synostosis, midface hypoplasia, variable degree of exophthalmos, relative prognathism, a beaked nose, and conductive hearing loss. Homozygosity mapping followed by targeted next-generation sequencing identified a c.479+6T>G mutation in the interleukin 11 receptor alpha gene (IL11RA) on chromosome 9p21. This donor splice-site mutation leads to a high percentage of aberrant IL11RA mRNA transcripts in an affected individual and altered mRNA splicing determined by in vitro exon trapping. An extended IL11RA mutation screen was performed in a cohort of 79 patients with an initial clinical diagnosis of Crouzon syndrome, pansynostosis, or unclassified syndromic craniosynostosis. We identified mutations segregating with the disease in five families: a German patient of Turkish origin and a Turkish family with three affected sibs all of whom were homozygous for the previously identified IL11RA c.479+6T>G mutation; a family with pansynostosis with compound heterozygous missense mutations, p.Pro200Thr and p.Arg237Pro; and two further Turkish families with Crouzon-like syndrome carrying the homozygous nonsense mutations p.Tyr232* and p.Arg292*. Using transient coexpression in HEK293T and COS7 cells, we demonstrated dramatically reduced IL11-mediated STAT3 phosphorylation for all mutations. Immunofluorescence analysis of mouse Il11ra demonstrated specific protein expression in cranial mesenchyme which was localized around the coronal suture tips and in the lambdoidal suture. In situ hybridization analysis of adult zebrafish also detected zfil11ra expression in the coronal suture between the overlapping frontal and parietal plates. This study demonstrates that mutations in the IL11RA gene cause an autosomal recessive Crouzon-like craniosynostosis. PMID:24498618

  16. Autosomal recessive PGM3 mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

    Science.gov (United States)

    Zhang, Yu; Yu, Xiaomin; Ichikawa, Mie; Lyons, Jonathan J.; Datta, Shrimati; Lamborn, Ian T.; Jing, Huie; Kim, Emily S.; Biancalana, Matthew; Wolfe, Lynne A.; DiMaggio, Thomas; Matthews, Helen F.; Kranick, Sarah M.; Stone, Kelly D.; Holland, Steven M.; Reich, Daniel S.; Hughes, Jason D.; Mehmet, Huseyin; McElwee, Joshua; Freeman, Alexandra F.; Freeze, Hudson H.; Su, Helen C.; Milner, Joshua D.

    2014-01-01

    Background Identifying genetic syndromes that lead to significant atopic disease can open new pathways for investigation and intervention in allergy. Objective To define a genetic syndrome of severe atopy, elevated serum IgE, immune deficiency, autoimmunity, and motor and neurocognitive impairment. Methods Eight patients from two families who had similar syndromic features were studied. Thorough clinical evaluations, including brain MRI and sensory evoked potentials, were performed. Peripheral lymphocyte flow cytometry, antibody responses, and T cell cytokine production were measured. Whole exome sequencing was performed to identify disease-causing mutations. Immunoblotting, qRT-PCR, enzymatic assays, nucleotide sugar and sugar phosphate analyses along with MALDI-TOF mass spectrometry of glycans were used to determine the molecular consequences of the mutations. Results Marked atopy and autoimmunity were associated with increased TH2 and TH17 cytokine production by CD4+ T cells. Bacterial and viral infection susceptibility were noted along with T cell lymphopenia, particularly of CD8+ T cells, and reduced memory B cells. Apparent brain hypomyelination resulted in markedly delayed evoked potentials and likely contributed to neurological abnormalities. Disease segregated with novel autosomal recessive mutations in a single gene, phosphoglucomutase 3 (PGM3). Although PGM3 protein expression was variably diminished, impaired function was demonstrated by decreased enzyme activity and reduced UDP-GlcNAc, along with decreased O- and N-linked protein glycosylation in patients’ cells. These results define a new Congenital Disorder of Glycosylation. Conclusions Autosomal recessive, hypomorphic PGM3 mutations underlie a disorder of severe atopy, immune deficiency, autoimmunity, intellectual disability and hypomyelination. PMID:24589341

  17. Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36

    NARCIS (Netherlands)

    C.M. van Duijn (Cock); G.J. Breedveld (Guido); M. Horstink (Marten); L.A. Sandkuijl (Lodewijk); B.A. Oostra (Ben); J.C. van Swieten; V. Bonifati (Vincenzo); R-J.H. Galjaard (Robert-Jan); J.J. Houwing-Duistermaat (Jeanine); L. Testers; M.C.J. Dekker (Marieke); P.J.L.M. Snijders (Pieter); P. Heutink (Peter)

    2001-01-01

    textabstractAlthough the role of genetic factors in the origin of Parkinson disease has long been disputed, several genes involved in autosomal dominant and recessive forms of the disease have been localized. Mutations associated with early-onset autosomal recessive parkinsonism have been identified

  18. Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.

    NARCIS (Netherlands)

    Duijn, C.M. van; Dekker, M.C.J.; Bonifati, V.; Galjaard, R.J.; Houwing-Duistermaat, J.J.; Snijders, P.J.L.M.; Testers, L.; Breedveld, G.J.; Horstink, M.W.I.M.; Sandkuijl, L.A.; Swieten, J. van; Oostra, B.A.; Heutink, P.

    2001-01-01

    Although the role of genetic factors in the origin of Parkinson disease has long been disputed, several genes involved in autosomal dominant and recessive forms of the disease have been localized. Mutations associated with early-onset autosomal recessive parkinsonism have been identified in the Park

  19. Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy

    NARCIS (Netherlands)

    Roosing, S.; Born, L.I. van den; Sangermano, R.; Banfi, S.; Koenekoop, R.K.; Zonneveld-Vrieling, M.N.; Klaver, C.C.; Lith-Verhoeven, J.J. van; Cremers, F.P.M.; Hollander, A.I. den; Hoyng, C.B.

    2015-01-01

    PURPOSE: This study aimed to identify the genetic defects in 2 families with autosomal recessive macular dystrophy with central cone involvement. DESIGN: Case series. PARTICIPANTS: Two families and a cohort of 244 individuals with various inherited maculopathies and cone disorders. METHODS: Genome-w

  20. Cerebellar Cognitive Affective Syndrome and Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay : A Report of Two Male Sibs

    NARCIS (Netherlands)

    Verhoeven, Willem M. A.; Egger, Jos I. M.; Ahmed, Amir I. M.; Kremer, Berry P. H.; Vermeer, Sascha; van de Warrenburg, Bart P. C.

    2012-01-01

    Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare neurodegenerative disorder caused by mutations in the SACS gene (13q12) encoding the protein sacsin. It is characterized by early-onset cerebellar ataxia, lower limb spasticity, sensorimotor axonal polyneuropath

  1. Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene.

    NARCIS (Netherlands)

    Heuvel, L.P.W.J. van den; Koul, K. Op de; Knots, E.; Knoers, N.V.A.M.; Monnens, L.A.H.

    2001-01-01

    BACKGROUND: At present the genetic defect for autosomal recessive and autosomal dominant hypophosphataemic rickets with hypercalciuria (HHRH) is unknown. Type II sodium/phosphate cotransporter (NPT2) gene is a serious candidate for being the causative gene in either or both autosomal recessive and a

  2. An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy

    Science.gov (United States)

    Eidinger, Osnat; Leibu, Rina; Newman, Hadas; Rizel, Leah; Perlman, Ido

    2015-01-01

    Purpose To investigate the genetic basis for autosomal recessive cone-rod dystrophy (CRD) in a consanguineous Israeli Jewish family. Methods Patients underwent a detailed ophthalmic evaluation, including eye examination, visual field testing, optical coherence tomography (OCT), and electrophysiological tests, electroretinography (ERG) and visual evoked potential (VEP). Genome-wide homozygosity mapping using a single nucleotide polymorphism (SNP) array was performed to identify homozygous regions shared among two of the affected individuals. Mutation screening of the underlying gene was performed with direct sequencing. In silico and in vitro analyses were used to predict the effect of the identified mutation on splicing. Results The affected family members are three siblings who have various degrees of progressive visual deterioration, glare, color vision abnormalities, and night vision difficulties. Visual field tests revealed central scotomas of different extension. Cone and rod ERG responses were reduced, with cones more severely affected. Homozygosity mapping revealed several homozygous intervals shared among two of the affected individuals. One included the PROM1 gene. Sequence analysis of the 26 coding exons of PROM1 in one affected individual revealed no mutations in the coding sequence or in intronic splice sites. However, in intron 21, proximate to the intron–exon junction, we observed a homozygous 10 bp deletion between positions −26 and −17 (c.2281–26_-17del). The deletion was linked to a known SNP, c.2281–6C>G. The deletion cosegregated with the disease in the family, and was not detected in public databases or in 101 ethnically-matched control individuals. In silico analysis predicted that this deletion would lead to altered intron 21 splicing. Bioinformatic analysis predicted that a recognition site for the SRSF2 splicing factor is located within the deleted sequence. The in vitro splicing assay demonstrated that c.2281–26_-17del leads to

  3. Naturally- and experimentally-designed restorations of the Parkin gene deficit in autosomal recessive juvenile parkinsonism

    Energy Technology Data Exchange (ETDEWEB)

    Asai, Hirohide; Hirano, Makito; Kiriyama, Takao; Ikeda, Masanori [Department of Neurology, Faculty of Medicine, Nara Medical University School of Medicine (Japan); Ueno, Satoshi, E-mail: sueno@naramed-u.ac.jp [Department of Neurology, Faculty of Medicine, Nara Medical University School of Medicine (Japan)

    2010-01-01

    Intranuclear events due to mutations in the Parkin gene remain elusive in autosomal recessive juvenile parkinsonism (ARJP). We identified a mutant PARKIN protein in fibroblast cultures from a pair of siblings with ARJP who were homozygous for the exon 4-deleted Parkin gene. Disease was mild in one patient and debilitating in the other. The detected mutant, encoded by a transcript lacking exon 3 as well as exon 4, is an in-frame deletion that removes 121 aa, resulting in a 344-aa protein (PaDel3,4). Cell culture and transfection studies revealed negative correlations between expression levels of PaDel3,4 and those of cell cycle proteins, including cyclin E, CDK2, ppRb, and E2F-1, and demonstrated that GFP-PaDel3,4 entered nucleus and ubiquitinated cyclin E as a part of SCF{sup hSel-10} ligase complex in the patient cells. In addition, nuclear localization signal-tagged PaDel3,4 expressed in the transfected patient cells most effectively ubiquitinated cyclin E and reduced DNA damage, protecting cells from oxidative stress. Antisense-oligonucleotide treatment promoted skipping of exon 3 and thus generated PaDel3,4, increasing cell survival. Collectively, we propose that naturally- and experimentally-induced exon skipping at least partly restores the mutant Parkin gene deficit, providing a molecular basis for the development of therapeutic exon skipping.

  4. A newly recognized autosomal recessive syndrome affecting neurologic function and vision.

    Science.gov (United States)

    Salih, Mustafa A; Tzschach, Andreas; Oystreck, Darren T; Hassan, Hamdy H; AlDrees, Abdulmajeed; Elmalik, Salah A; El Khashab, Heba Y; Wienker, Thomas F; Abu-Amero, Khaled K; Bosley, Thomas M

    2013-06-01

    Genetic factors represent an important etiologic group in the causation of intellectual disability. We describe a Saudi Arabian family with closley related parents in which four of six children were affected by a congenital cognitive disturbance. The four individuals (aged 18, 16, 13, and 2 years when last examined) had motor and cognitive delay with seizures in early childhood, and three of the four (sparing only the youngest child) had progressive, severe cognitive decline with spasticity. Two affected children had ocular malformations, and the three older children had progressive visual loss. The youngest had normal globes with good functional vision when last examined but exhibited the oculodigital sign, which may signify a subclinical visual deficit. A potentially deleterious nucleotide change (c.1A>G; p.Met1Val) in the C12orf57 gene was homozygous in all affected individuals, heterozygous in the parents, and absent in an unaffected sibling and >350 normal individuals. This gene has no known function. This family manifests a autosomal recessive syndrome with some phenotypic variability that includes abnormal development of brain and eyes, delayed cognitive and motor milestones, seizures, and a severe cognitive and visual decline that is associated with a homozygous variant in a newly identified gene. PMID:23633300

  5. A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

    Science.gov (United States)

    Hu, Ying; Chen, I-Ping; de Almeida, Salome; Tiziani, Valdenize; Do Amaral, Cassio M. Raposo; Gowrishankar, Kalpana; Passos-Bueno, Maria Rita; Reichenberger, Ernst J.

    2013-01-01

    Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH. Although the autosomal recessive (AR) form of CMD had been mapped to 6q21-22 the mutation has been elusive. In this study, we performed whole-exome sequencing for one subject with AR CMD and identified a novel missense mutation (c.716G>A, p.Arg239Gln) in the C-terminus of the gap junction protein alpha-1 (GJA1) coding for connexin 43 (Cx43). We confirmed this mutation in 6 individuals from 3 additional families. The homozygous mutation cosegregated only with affected family members. Connexin 43 is a major component of gap junctions in osteoblasts, osteocytes, osteoclasts and chondrocytes. Gap junctions are responsible for the diffusion of low molecular weight molecules between cells. Mutations in Cx43 cause several dominant and recessive disorders involving developmental abnormalities of bone such as dominant and recessive oculodentodigital dysplasia (ODDD; MIM #164200, 257850) and isolated syndactyly type III (MIM #186100), the characteristic digital anomaly in ODDD. However, characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with the recessive Arg239Gln Cx43 mutation. Bone remodeling mechanisms disrupted by this novel Cx43 mutation remain to be elucidated. PMID:23951358

  6. Distribution of skeletal muscle involvement in autosomal recessive distal muscular dystrophy

    International Nuclear Information System (INIS)

    Distribution of skeletal muscle involvement in 5 cases with autosomal recessive distal muscular dystrophy was studied clinically and by computed tomography (CT). Manual muscle test showed muscle involvement with a predilection for flexors in the lower leg and adductors in the thigh. Flexion and extension of the thigh and the lower leg was impaired to similar degree. In progressed cases, neck flexors and trunk muscles were also affected mildly. CT disclosed more clearly the preferential involvement of flexors in the lower leg, and involvement of both hamstrings · adductors group and extensors group of the thigh to similar degree. However, m. popliteus was curiously well preserved. In addition, there was a stage showing high density and hypertrophy of m. sartorius, m. gracilis, m. adductor, m. biceps femoris, m. semimenbranosus, m. semitendinosus or m. rectus femoris, which in thought to be compensatory hypertrophy. M. gluteus minimus in the pelvic girdle and m. dorsi proprii in the trunk were also liable to be affected. The CT findings are regarded as characteristic features noted clearly before muscle weakness and atrophy become apparent clinically. CT is very useful for distinguishing distal muscular dystrophy from rimmed vacuolar distal myopathy in which m. quadriceps femoris and flexors of the lower leg are usually well preserved without compensatory hypertrophy on CT. (author)

  7. Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene

    Directory of Open Access Journals (Sweden)

    Kwanghyuk Lee

    2011-01-01

    Full Text Available The RDX gene anchors cytoskeletal actin of stereocilia to hair cell transmembrane and is responsible for autosomal recessive nonsyndromic hearing impairment (ARNSHI due to DFNB24. A genome scan was performed using DNA samples from a consanguineous Pakistani family with ARNSHI. A significant maximum two-point LOD score of 4.5 (θ=0 and multipoint LOD score of 5.8 were achieved at marker D11S1998 (chr11 : 117.20 Mb. The region of homozygosity is bounded by markers D11S2000 (105.06 Mb and D11S4464 (123.13 Mb and contains the NSHI genes TECTA and RDX. Although no potentially causal variants were identified in the TECTA gene, within the RDX gene a novel deletion c.1076_1079delTTAA (p.Ile359Lysfs*6 was identified. The RDX deletion segregates with ARNSHI within the family and was not observed in 500 control chromosomes. It is predicted to cause premature truncation of radixin at the α-helical domain and to result in nonfunctional transcripts within the cochlea. RDX isoforms which encode the coiled-coil region of the α-helical domain are deemed necessary for proper function of hair cell stereocilia.

  8. Pathways of apoptosis in human autosomal recessive and autosomal dominant polycystic kidney diseases.

    Science.gov (United States)

    Goilav, Beatrice; Satlin, Lisa M; Wilson, Patricia D

    2008-09-01

    Autosomal dominant polycystic kidney disease (ADPKD) is a major cause of end-stage renal disease in adults. Autosomal recessive (AR) PKD affects approximately 1:20,000 live-born children with high perinatal mortality. Both diseases have abnormalities in epithelial proliferation, secretion, and cell-matrix interactions, leading to progressive cystic expansion and associated interstitial fibrosis. Cell number in a kidney reflects the balance between proliferation and apoptosis. Apoptosis results from extrinsic (ligand-induced, expression of caspase-8) and intrinsic (mitochondrial damage, expression of caspase-9) triggers. Previous studies have suggested a role for apoptosis in PKD cyst formation and parenchymal destruction. Mechanisms underlying apoptosis in human ADPKD and ARPKD were examined by quantitative immunohistochemistry and Western immunoblot analyses of age-matched normal and PKD tissues. Caspase-8 expression was significantly greater in small cysts and normal-appearing tubules than in larger cysts in ADPKD kidneys. Caspase-8 also appeared early in the disease process of ADPKD. In ARPKD, expression of caspase-8 was most pronounced in later stages of the disease and was not confined to a specific cyst size. In conclusion, apoptosis in human ADPKD is an early event, occurring predominantly in normal-appearing tubules and small cysts, and is triggered by an extrinsic factor, but it occurs later in ARPKD. PMID:18516626

  9. Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.

    Science.gov (United States)

    Perez-Carro, Raquel; Corton, Marta; Sánchez-Navarro, Iker; Zurita, Olga; Sanchez-Bolivar, Noelia; Sánchez-Alcudia, Rocío; Lelieveld, Stefan H; Aller, Elena; Lopez-Martinez, Miguel Angel; López-Molina, Ma Isabel; Fernandez-San Jose, Patricia; Blanco-Kelly, Fiona; Riveiro-Alvarez, Rosa; Gilissen, Christian; Millan, Jose M; Avila-Fernandez, Almudena; Ayuso, Carmen

    2016-01-25

    Retinitis pigmentosa (RP) is a group of inherited progressive retinal dystrophies (RD) characterized by photoreceptor degeneration. RP is highly heterogeneous both clinically and genetically, which complicates the identification of causative genes and mutations. Targeted next-generation sequencing (NGS) has been demonstrated to be an effective strategy for the detection of mutations in RP. In our study, an in-house gene panel comprising 75 known RP genes was used to analyze a cohort of 47 unrelated Spanish families pre-classified as autosomal recessive or isolated RP. Disease-causing mutations were found in 27 out of 47 cases achieving a mutation detection rate of 57.4%. In total, 33 pathogenic mutations were identified, 20 of which were novel mutations (60.6%). Furthermore, not only single nucleotide variations but also copy-number variations, including three large deletions in the USH2A and EYS genes, were identified. Finally seven out of 27 families, displaying mutations in the ABCA4, RP1, RP2 and USH2A genes, could be genetically or clinically reclassified. These results demonstrate the potential of our panel-based NGS strategy in RP diagnosis.

  10. The renin-angiotensin system and hypertension in autosomal recessive polycystic kidney disease.

    Science.gov (United States)

    Goto, Miwa; Hoxha, Nita; Osman, Rania; Dell, Katherine Macrae

    2010-12-01

    Hypertension is a well-recognized complication of autosomal recessive polycystic kidney disease (ARPKD). The renin-angiotensin system (RAS) is a key regulator of blood pressure; however, data on the RAS in ARPKD are limited and conflicting, showing both up- and down-regulation. In the current study, we characterized intrarenal and systemic RAS activation in relationship to hypertension and progressive cystic kidney disease in the ARPKD orthologous polycystic kidney (PCK) rat. Clinical and histological measures of kidney disease, kidney RAS gene expression by quantitative real-time PCR, angiotensin II (Ang II) immunohistochemistry, and systemic Ang I and II levels were assessed in 2-, 4-, and 6-month-old cystic PCK and age-matched normal rats. PCK rats developed hypertension and progressive cystic kidney disease without significant worsening of renal function or relative kidney size. Intrarenal renin, ACE and Ang II expression was increased significantly in cystic kidneys; angiotensinogen and Ang II Type I receptor were unchanged. Systemic Ang I and II levels did not differ. This study demonstrates that intrarenal, but not systemic, RAS activation is a prominent feature of ARPKD. These findings help reconcile previous conflicting reports and suggest that intrarenal renin and ACE gene upregulation may represent a novel mechanism for hypertension development or exacerbation in ARPKD.

  11. The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.

    Science.gov (United States)

    Zlotogora, Joël

    2010-11-01

    The Israeli population mainly includes Jews, Muslim and Christian Arabs, and Druze In the last decade, data on genetic diseases present in the population have been systematically collected and are available online in the Israeli national genetic database ( http://www.goldenhelix.org/server/israeli ). In the non-Jewish population, up to 1 July 2010, the database included molecular data on six diseases relatively frequent in the whole population: thalassemia, familial Mediterranean fever (FMF), cystic fibrosis, deafness, phenylketonuria and congenital adrenal hyperplasia, as well as data on 195 autosomal recessive diseases among Muslim Israeli Arabs, 11 among the Christian Arabs and 31 among Druze. A single mutation was characterized in 149 out of the 238 rare disorders for which the molecular basis was known. In many diseases, mutation had never been observed in any other population and was present in one family only suggesting that it occurred as a de novo event. In other diseases, the mutation was present in more than one community or even in other populations such as Bedouins from the Arab peninsula or Christians from Lebanon. In the 89 other disorders, more than one mutation was characterized either in the same gene or in more than one gene. While it is probable that most of these cases represent random events in some cases such as Bardet Biedl among the Bedouins, the reason may be a selective advantage to the heterozygotes.

  12. Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.

    Directory of Open Access Journals (Sweden)

    Satoshi Katagiri

    Full Text Available OBJECTIVE: The purpose of this study was to investigate frequent disease-causing gene mutations in autosomal recessive retinitis pigmentosa (arRP in the Japanese population. METHODS: In total, 99 Japanese patients with non-syndromic and unrelated arRP or sporadic RP (spRP were recruited in this study and ophthalmic examinations were conducted for the diagnosis of RP. Among these patients, whole exome sequencing analysis of 30 RP patients and direct sequencing screening of all CNGA1 exons of the other 69 RP patients were performed. RESULTS: Whole exome sequencing of 30 arRP/spRP patients identified disease-causing gene mutations of CNGA1 (four patients, EYS (three patients and SAG (one patient in eight patients and potential disease-causing gene variants of USH2A (two patients, EYS (one patient, TULP1 (one patient and C2orf71 (one patient in five patients. Screening of an additional 69 arRP/spRP patients for the CNGA1 gene mutation revealed one patient with a homozygous mutation. CONCLUSIONS: This is the first identification of CNGA1 mutations in arRP Japanese patients. The frequency of CNGA1 gene mutation was 5.1% (5/99 patients. CNGA1 mutations are one of the most frequent arRP-causing mutations in Japanese patients.

  13. Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36

    OpenAIRE

    Duijn, Cock; Breedveld, Guido; Horstink, Marten; Sandkuijl, Lodewijk; Oostra, Ben; Swieten, J. C.; Bonifati, Vincenzo; Galjaard, Robert-Jan; Houwing-Duistermaat, Jeanine; Testers, L.; Dekker, Marieke; Snijders, Pieter; Heutink, Peter

    2001-01-01

    textabstractAlthough the role of genetic factors in the origin of Parkinson disease has long been disputed, several genes involved in autosomal dominant and recessive forms of the disease have been localized. Mutations associated with early-onset autosomal recessive parkinsonism have been identified in the Parkin gene, and recently a second gene, PARK6, involved in early-onset recessive parkinsonism was localized on chromosome 1p35-36. We identified a family segregating early-onset parkinsoni...

  14. Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

    OpenAIRE

    Khan, Tahir Naeem; Klar, Joakim; Tariq, Muhammad; Anjum Baig, Shehla; Malik, Naveed Altaf; Yousaf, Raja; Baig, Shahid Mahmood; Dahl, Niklas

    2014-01-01

    Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of disorders characterized by progressive spasticity and weakness of the lower limbs. Autosomal dominant and ‘pure' forms of HSP account for ∼80% of cases in Western societies of whom 10% carry atlastin-1 (ATL1) gene mutations. We report on a large consanguineous family segregating six members with early onset HSP. The pedigree was compatible with both autosomal dominant and autosomal recessive inheritance. Whole-exome seque...

  15. Founder mutations in the lipase H (LIPH) gene in families with autosomal recessive woolly hair/hypotrichosis

    OpenAIRE

    Shimomura, Yutaka; Wajid, Muhammad; Zlotogorski, Abraham; Lee, Young Jin; Rice, Robert H.; Christiano, Angela M.

    2009-01-01

    Autosomal recessive woolly hair (ARWH)/hypotrichosis is a hereditary hair disorder which is characterized by tightly curled hair, and is occasionally associated with sparse hair. ARWH can be caused by mutations in the P2RY5 or lipase H (LIPH) gene. Disruption of both genes results in phenotypes with features of both WH and hypotrichosis. In this study, we identified two Guyanese families with ARWH. Both families are of recent Indian descent. Mutation analysis resulted in the identification of...

  16. Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene

    OpenAIRE

    Shimomura, Yutaka; Garzon, Maria C.; Christiano, Angela M.

    2008-01-01

    During the last decade, several causative genes for hereditary hair diseases have been identified, which have disclosed the molecular mechanisms involved in hair follicle morphogenesis and cycling. We and others recently reported that mutations in the P2RY5 gene, encoding an orphan G protein-coupled receptor, underlie autosomal recessive woolly hair and/or hypotrichosis. Although these findings clearly reveal the involvement of P2RY5 mutations in hereditary hair diseases, the clinical manifes...

  17. Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

    Science.gov (United States)

    Santos-Cortez, Regie Lyn P.; Faridi, Rabia; Rehman, Atteeq U.; Lee, Kwanghyuk; Ansar, Muhammad; Wang, Xin; Morell, Robert J.; Isaacson, Rivka; Belyantseva, Inna A.; Dai, Hang; Acharya, Anushree; Qaiser, Tanveer A.; Muhammad, Dost; Ali, Rana Amjad; Shams, Sulaiman; Hassan, Muhammad Jawad; Shahzad, Shaheen; Raza, Syed Irfan; Bashir, Zil-e-Huma; Smith, Joshua D.; Nickerson, Deborah A.; Bamshad, Michael J.; Riazuddin, Sheikh; Ahmad, Wasim; Friedman, Thomas B.; Leal, Suzanne M.

    2016-01-01

    The sphingosine-1-phosphate receptors (S1PRs) are a well-studied class of transmembrane G protein-coupled sphingolipid receptors that mediate multiple cellular processes. However, S1PRs have not been previously reported to be involved in the genetic etiology of human traits. S1PR2 lies within the autosomal-recessive nonsyndromic hearing impairment (ARNSHI) locus DFNB68 on 19p13.2. From exome sequence data we identified two pathogenic S1PR2 variants, c.323G>C (p.Arg108Pro) and c.419A>G (p.Tyr140Cys). Each of these variants co-segregates with congenital profound hearing impairment in consanguineous Pakistani families with maximum LOD scores of 6.4 for family DEM4154 and 3.3 for family PKDF1400. Neither S1PR2 missense variant was reported among ∼120,000 chromosomes in the Exome Aggregation Consortium database, in 76 unrelated Pakistani exomes, or in 720 Pakistani control chromosomes. Both DNA variants affect highly conserved residues of S1PR2 and are predicted to be damaging by multiple bioinformatics tools. Molecular modeling predicts that these variants affect binding of sphingosine-1-phosphate (p.Arg108Pro) and G protein docking (p.Tyr140Cys). In the previously reported S1pr2−/− mice, stria vascularis abnormalities, organ of Corti degeneration, and profound hearing loss were observed. Additionally, hair cell defects were seen in both knockout mice and morphant zebrafish. Family PKDF1400 presents with ARNSHI, which is consistent with the lack of gross malformations in S1pr2−/− mice, whereas family DEM4154 has lower limb malformations in addition to hearing loss. Our findings suggest the possibility of developing therapies against hair cell damage (e.g., from ototoxic drugs) through targeted stimulation of S1PR2. PMID:26805784

  18. Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations

    Science.gov (United States)

    Zeevi, David A.; Altarescu, Gheona; Weinberg-Shukron, Ariella; Zahdeh, Fouad; Dinur, Tama; Chicco, Gaya; Herskovitz, Yair; Renbaum, Paul; Elstein, Deborah; Levy-Lahad, Ephrat; Rolfs, Arndt; Zimran, Ari

    2015-01-01

    BACKGROUND. Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of monogenic disease. Family-specific haplotype assembly is essential for accurate diagnosis of minuscule amounts of circulating cell-free fetal DNA; however, current haplotyping techniques are too time-consuming and laborious to be carried out within the limited time constraints of prenatal testing, hampering practical application of NIPD in the clinic. Here, we have addressed this pitfall and devised a universal strategy for rapid NIPD of a prevalent mutation in the Ashkenazi Jewish (AJ) population. METHODS. Pregnant AJ couples, carrying mutation(s) in GBA, which encodes acid β-glucosidase, were recruited at the SZMC Gaucher Clinic. Targeted next-generation sequencing of GBA-flanking SNPs was performed on peripheral blood samples from each couple, relevant mutation carrier family members, and unrelated individuals who are homozygotes for an AJ founder mutation. Allele-specific haplotypes were constructed based on linkage, and a consensus Gaucher disease–associated founder mutation–flanking haplotype was fine mapped. Together, these haplotypes were used for NIPD. All test results were validated by conventional prenatal or postnatal diagnostic methods. RESULTS. Ten parental alleles in eight unrelated fetuses were diagnosed successfully based on the noninvasive method developed in this study. The consensus mutation–flanking haplotype aided diagnosis for 6 of 9 founder mutation alleles. CONCLUSIONS. The founder NIPD method developed and described here is rapid, economical, and readily adaptable for prenatal testing of prevalent autosomal recessive disease-causing mutations in an assortment of worldwide populations. FUNDING. SZMC, Protalix Biotherapeutics Inc., and Centogene AG. PMID:26426075

  19. Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form

    Science.gov (United States)

    Makovac, Elena; Cercignani, Mara; Serra, Laura; Torso, Mario; Spanò, Barbara; Petrucci, Simona; Ricciardi, Lucia; Ginevrino, Monia; Caltagirone, Carlo; Bentivoglio, Anna Rita; Valente, Enza Maria; Bozzali, Marco

    2016-01-01

    Biallelic genetic mutations in the Park2 and PINK1 genes are frequent causes of autosomal recessive PD. Carriers of single heterozygous mutations may manifest subtle signs of disease, thus providing a unique model of preclinical PD. One emerging hypothesis suggests that non-motor symptom of PD, such as cognitive impairment may be due to a distributed functional disruption of various neuronal circuits. Using resting-state functional MRI (RS-fMRI), we tested the hypothesis that abnormal connectivity within and between brain networks may account for the patients’ cognitive status. Eight homozygous and 12 heterozygous carriers of either PINK1 or Park2 mutation and 22 healthy controls underwent RS-fMRI and cognitive assessment. RS-fMRI data underwent independent component analysis to identify five networks of interest: default-mode network, salience network, executive network, right and left fronto-parietal networks. Functional connectivity within and between each network was assessed and compared between groups. All mutation carriers were cognitively impaired, with the homozygous group reporting a more prominent impairment in visuo-spatial working memory. Changes in functional connectivity were evident within all networks between homozygous carriers and controls. Also heterozygotes reported areas of reduced connectivity when compared to controls within two networks. Additionally, increased inter-network connectivity was observed in both groups of mutation carriers, which correlated with their spatial working memory performance, and could thus be interpreted as compensatory. We conclude that both homozygous and heterozygous carriers exhibit pathophysiological changes unveiled by RS-fMRI, which can account for the presence/severity of cognitive symptoms. PMID:27788143

  20. A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.

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    Jinglan Zhang

    2016-04-01

    Full Text Available Genetic leukoencephalopathies (gLEs are a group of heterogeneous disorders with white matter abnormalities affecting the central nervous system (CNS. The causative mutation in ~50% of gLEs is unknown. Using whole exome sequencing (WES, we identified homozygosity for a missense variant, VPS11: c.2536T>G (p.C846G, as the genetic cause of a leukoencephalopathy syndrome in five individuals from three unrelated Ashkenazi Jewish (AJ families. All five patients exhibited highly concordant disease progression characterized by infantile onset leukoencephalopathy with brain white matter abnormalities, severe motor impairment, cortical blindness, intellectual disability, and seizures. The carrier frequency of the VPS11: c.2536T>G variant is 1:250 in the AJ population (n = 2,026. VPS11 protein is a core component of HOPS (homotypic fusion and protein sorting and CORVET (class C core vacuole/endosome tethering protein complexes involved in membrane trafficking and fusion of the lysosomes and endosomes. The cysteine 846 resides in an evolutionarily conserved cysteine-rich RING-H2 domain in carboxyl terminal regions of VPS11 proteins. Our data shows that the C846G mutation causes aberrant ubiquitination and accelerated turnover of VPS11 protein as well as compromised VPS11-VPS18 complex assembly, suggesting a loss of function in the mutant protein. Reduced VPS11 expression leads to an impaired autophagic activity in human cells. Importantly, zebrafish harboring a vps11 mutation with truncated RING-H2 domain demonstrated a significant reduction in CNS myelination following extensive neuronal death in the hindbrain and midbrain. Thus, our study reveals a defect in VPS11 as the underlying etiology for an autosomal recessive leukoencephalopathy disorder associated with a dysfunctional autophagy-lysosome trafficking pathway.

  1. A large animal model for CNGB1 autosomal recessive retinitis pigmentosa.

    Directory of Open Access Journals (Sweden)

    Paige A Winkler

    Full Text Available Retinal dystrophies in dogs are invaluable models of human disease. Progressive retinal atrophy (PRA is the canine equivalent of retinitis pigmentosa (RP. Similar to RP, PRA is a genetically heterogenous condition. We investigated PRA in the Papillon breed of dog using homozygosity mapping and haplotype construction of single nucleotide polymorphisms within a small family group to identify potential positional candidate genes. Based on the phenotypic similarities between the PRA-affected Papillons, mouse models and human patients, CNGB1 was selected as the most promising positional candidate gene. CNGB1 was sequenced and a complex mutation consisting of the combination of a one basepair deletion and a 6 basepair insertion was identified in exon 26 (c.2387delA;2389_2390insAGCTAC leading to a frameshift and premature stop codon. Immunohistochemistry (IHC of pre-degenerate retinal sections from a young affected dog showed absence of labeling using a C-terminal CNGB1 antibody. Whereas an antibody directed against the N-terminus of the protein, which also recognizes the glutamic acid rich proteins arising from alternative splicing of the CNGB1 transcript (upstream of the premature stop codon, labeled rod outer segments. CNGB1 combines with CNGA1 to form the rod cyclic nucleotide gated channel and previous studies have shown the requirement of CNGB1 for normal targeting of CNGA1 to the rod outer segment. In keeping with these previous observations, IHC showed a lack of detectable CNGA1 protein in the rod outer segments of the affected dog. A population study did not identify the CNGB1 mutation in PRA-affected dogs in other breeds and documented that the CNGB1 mutation accounts for ~70% of cases of Papillon PRA in our PRA-affected canine DNA bank. CNGB1 mutations are one cause of autosomal recessive RP making the CNGB1 mutant dog a valuable large animal model of the condition.

  2. CHARACTERIZING THE SPECTRUM OF AUTOSOMAL RECESSIVE HEREDITARY HEARING LOSS IN IRAN

    Science.gov (United States)

    Sloan-Heggen, Christina M; Babanejad, Mojgan; Beheshtian, Maryam; Simpson, Allen C; Booth, Kevin T; Ardalani, Fariba; Frees, Kathy L; Mohseni, Marzieh; Mozafari, Reza; Mehrjoo, Zohreh; Jamali, Leila; Vaziri, Saeideh; Akhtarkhavari, Tara; Bazazzadegan, Niloofar; Nikzat, Nooshin; Arzhangi, Sanaz; Sabbagh, Farahnaz; Otukesh, Hasan; Seifati, Seyed Morteza; Khodaei, Hossein; Taghdiri, Maryam; Meyer, Nicole C; Daneshi, Ahmad; Farhadi, Mohammad; Kahrizi, Kimia; Smith, Richard JH; Azaiez, Hela; Najmabadi, Hossein

    2016-01-01

    Background Countries with culturally accepted consanguinity provide a unique resource for the study of rare recessively inherited genetic diseases. Although hereditary hearing loss (HHL) is not uncommon, it is genetically heterogeneous, with over 85 genes causally implicated in non-syndromic hearing loss (NSHL). This heterogeneity makes many gene-specific types of NSHL exceedingly rare. We sought to define the spectrum of autosomal recessive HHL in Iran by investigating both common and rarely diagnosed deafness-causing genes. Design Using a custom targeted genomic enrichment (TGE) panel we simultaneously interrogating all known genetic causes of NSHL in a cohort of 302 GJB2-negative Iranian families. Results We established a genetic diagnosis for 67% of probands and their families, with over half of all diagnoses attributable to variants in five genes: SLC26A4, MYO15A, MYO7A, CDH23, and PCDH15. As a reflection of the power of consanguinity mapping, 26 genes were identified as causative for NSHL in the Iranian population for the first time. In total, 179 deafness-causing variants were identified in 40 genes in 201 probands, including 110 novel single nucleotide or small insertion-deletion variants and 3 novel copy number variations. Several variants represent founder mutations. Conclusion This study attests to the power of TGE and massively parallel sequencing (TGE+MPS) as a diagnostic tool for the evaluation of hearing loss in Iran, and expands on our understanding of the genetics of HHL in this country. Families negative for variants in the genes represented on this panel represent an excellent cohort for novel gene discovery. PMID:26445815

  3. Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease.

    Science.gov (United States)

    Edrees, Burhan M; Athar, Mohammad; Al-Allaf, Faisal A; Taher, Mohiuddin M; Khan, Wajahatullah; Bouazzaoui, Abdellatif; Al-Harbi, Naffaa; Safar, Ramzia; Al-Edressi, Howaida; Alansary, Khawala; Anazi, Abulkareem; Altayeb, Naji; Ahmed, Muawia A; Abduljaleel, Zainularifeen

    2016-10-10

    Autosomal recessive polycystic kidney disease (ARPKD) a rare genetic disorder, described by formation of cysts in the kidney. A targeted customized sequencing of genes implicated in ARPKD phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing. The results identified likely pathogenic disease causing variants during the validation process. Four potential pathogenic variants [c.4870C>T, p.(Arg1624Trp)], [c.5725C>T, p.(Arg1909Trp)], c.1736C>T, p.(Thr579Met)] and [(c.10628T>G), p.(Leu3543Trp)] were observed in PKHD1 gene among 12 out of 18 samples. The rest of the patient samples also showed few variants in ADPKD (Autosomal Dominant Polycystic Kidney Disease) disease causing genes PKD1 and PKD2 i.e. [c.12433G>A, p.(Val4145Ile)] and [c.1445T>G, p.(Phe482Cys)], respectively. All causative variants were validated by capillary sequencing, confirming the presence of a novel homozygous variants [c.10628T>G, p.(Leu3543Trp)] found in exon 61 of a male proband. All potentially deleterious variants identified in PKHD1, PKD1, and PKD2 gene, also exhibited pathologically or clinically significance based on the computational predictions involved in predicting the impact of non-synonymous SNPs (nsSNPs) on protein function such as Sorting Intolerant From Tolerant (SIFT) and Polymorphism Phenotyping (PolyPhen2). SIFT classified 50% of our nsSNPs as "deleterious", while PolyPhen2 identified 45% of our nsSNPs as "Probably damaged" and the results from both programs were largely complementary. Taken together, these results suggest that the NGS strategies provide a fast, accurate and cost-effective molecular diagnostic tool for identifying mutations in targeted genes sequence analysis. PMID:27401137

  4. Elevated c-myc protooncogene expression in autosomal recessive polycystic kidney disease

    International Nuclear Information System (INIS)

    The polycystic kidney diseases (PKDs) are a group of disorders characterized by the growth of epithelial cysts from the nephrons and collecting ducts of kidney tubules. The diseases can be inherited or can be provoked by environmental factors. To investigate the molecular basis of the abnormal cell growth associated with PKD, c-myc protooncogene expression was studied in a mouse model for autosomal recessive PKD. Homozygous recessive C57BL/6J (cpk/cpk) mice develop massively enlarged cystic kidneys and die from renal failure shortly after 3 weeks of age. Quantitative dot blot and RNA blot hybridization experiments in which whole kidney poly(A)+ RNA was hybridized with a c-myc RNA probe showed a 2- to 6-fold increase in c-myc mRNA at 2 weeks, and a 25- to 30-fold increase in c-myc mRNA at 3 weeks of age in polycystic mice, as compared to normal littermates. c-myc expression was also examined under two conditions in which kidney cell growth was experimentally induced in normal adult mice: compensatory renal hypertrophy and tubule regeneration following folic acid-induced renal cell injury. While compensatory hypertrophy resulted in only a small increase in c-myc, folic acid treatment gave rise after 24 hr to a 12-fold increase in c-myc RNA. The induction of c-myc by folic acid is consistent with increased cellular proliferation regenerating tubules. In contrast, polycystic kidneys show only a minimal increase in cellular proliferation over that seen in normal kidneys, while c-myc levels were found to be markedly elevated. Thus, the level of c-myc expression in cystic kidneys appears to be out of proportion to the rate of cell division, suggesting that elevated and potentially abnormal c-myc expression may be involved in the pathogenesis of PKD

  5. Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

    Science.gov (United States)

    El-Sayed, Walid; Parry, David A.; Shore, Roger C.; Ahmed, Mushtaq; Jafri, Hussain; Rashid, Yasmin; Al-Bahlani, Suhaila; Al Harasi, Sharifa; Kirkham, Jennifer; Inglehearn, Chris F.; Mighell, Alan J.

    2009-01-01

    Healthy dental enamel is the hardest and most highly mineralized human tissue. Though acellular, nonvital, and without capacity for turnover or repair, it can nevertheless last a lifetime. Amelogenesis imperfecta (AI) is a collective term for failure of normal enamel development, covering diverse clinical phenotypes that typically show Mendelian inheritance patterns. One subset, known as hypomaturation AI, is characterised by near-normal volumes of organic enamel matrix but with weak, creamy-brown opaque enamel that fails prematurely after tooth eruption. Mutations in genes critical to enamel matrix formation have been documented, but current understanding of other key events in enamel biomineralization is limited. We investigated autosomal-recessive hypomaturation AI in a consanguineous Pakistani family. A whole-genome SNP autozygosity screen identified a locus on chromosome 15q21.3. Sequencing candidate genes revealed a point mutation in the poorly characterized WDR72 gene. Screening of WDR72 in a panel of nine additional hypomaturation AI families revealed the same mutation in a second, apparently unrelated, Pakistani family and two further nonsense mutations in Omani families. Immunohistochemistry confirmed intracellular localization in maturation-stage ameloblasts. WDR72 function is unknown, but as a putative β propeller is expected to be a scaffold for protein-protein interactions. The nearest homolog, WDR7, is involved in vesicle mobilization and Ca2+-dependent exocytosis at synapses. Vesicle trafficking is important in maturation-stage ameloblasts with respect to secretion into immature enamel and removal of cleaved enamel matrix proteins via endocytosis. This raises the intriguing possibility that WDR72 is critical to ameloblast vesicle turnover during enamel maturation. PMID:19853237

  6. Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.

    Science.gov (United States)

    Ouadani, Hanen; Ben-Mustapha, Imen; Ben-ali, Meriem; Ben-khemis, Leila; Larguèche, Beya; Boussoffara, Raoudha; Maalej, Sonia; Fetni, Ilhem; Hassayoun, Saida; Mahfoudh, Abdelmajid; Mellouli, Fethi; Yalaoui, Sadok; Masmoudi, Hatem; Bejaoui, Mohamed; Barbouche, Mohamed-Ridha

    2016-01-01

    Immunoglobulin class switch recombination deficiencies (Ig-CSR-D) are characterized by normal or elevated serum IgM level and absence of IgG, IgA, and IgE. Most reported cases are due to X-linked CD40L deficiency. Activation-induced cytidine deaminase deficiency is the most frequent autosomal recessive form, whereas CD40 deficiency is more rare. Herein, we present the first North African study on hyper IgM (HIGM) syndrome including 16 Tunisian patients. Phenotypic and genetic studies allowed us to determine their molecular basis. Three CD40LG mutations have been identified including two novels (c.348_351dup and c.782_*2del) and one already reported mutation (g.6182G>A). No mutation has been found in another patient despite the lack of CD40L expression. Interestingly, three AICDA mutations have been identified in 11 patients. Two mutations were novel (c.91T>C and c.389A>C found in one and five patients respectively), and one previously reported splicing mutation (c.156+1T>G) was found in five patients. Only one CD40-deficient patient, bearing a novel mutation (c.109T>G), has been identified. Thus, unlike previous reports, AID deficiency is the most frequent underlying molecular basis (68%) of Ig-CSR-D in Tunisian patients. This finding and the presence of specific recurrent mutations are probably due to the critical role played by inbreeding in North African populations. PMID:26545377

  7. COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).

    Science.gov (United States)

    Harel, Tamar; Rabinowitz, Ronen; Hendler, Netta; Galil, Aharon; Flusser, Hagit; Chemke, Juan; Gradstein, Libe; Lifshitz, Tova; Ofir, Rivka; Elbedour, Khalil; Birk, Ohad S

    2005-01-01

    Autosomal recessive Weissenbacher-Zweymuller syndrome (WZS) is a skeletal dysplasia characterized by rhizomelic dwarfism and severe hearing loss. Mutations in the COL11A2 gene have been implicated in causing the autosomal dominant form of this syndrome as well as non-ocular Stickler syndrome and the autosomal recessive syndrome otospondylomegaepiphyseal dysplasia (OSMED). In a consanguineous Bedouin tribe living in Southern Israel, five individuals affected by autosomal recessive WZS were available for genetic analysis. Homozygosity of a mutation in the COL11A2 gene was found in all affected individuals. This finding lends molecular support to the clinical notion that autosomal recessive WZS and OSMED are a single entity. PMID:15558753

  8. Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

    Directory of Open Access Journals (Sweden)

    Sobia Shafique

    Full Text Available The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations in GJB2 while mutations in MYO15A account for about 5% of recessive deafness. In the present study a cohort of 30 ARNSHL families was initially screened for mutations in GJB2 and MYO15A. Homozygosity mapping was performed by employing whole genome single nucleotide polymorphism (SNP genotyping in the families that did not carry mutations in GJB2 or MYO15A. Mutation analysis was performed for the known ARNSHL genes present in the homozygous regions to determine the causative mutations. This allowed the identification of a causative mutation in all the 30 families including 9 novel mutations, which were identified in 9 different families (GJB2 (c.598G>A, p.Gly200Arg; MYO15A (c.9948G>A, p.Gln3316Gln; c.3866+1G>A; c.8767C>T, p.Arg2923* and c.8222T>C, p.Phe2741Ser, TMC1 (c.362+18A>G, BSND (c.97G>C, p.Val33Leu, TMPRSS3 (c.726C>G, p.Cys242Trp and MSRB3 (c.20T>G, p.Leu7Arg. Furthermore, 12 recurrent mutations were detected in 21 other families. The 21 identified mutations included 10 (48% missense changes, 4 (19% nonsense mutations, 3 (14% intronic mutations, 2 (9% splice site mutations and 2 (9% frameshift mutations. GJB2 accounted for 53% of the families, while mutations in MYO15A were the second most frequent (13% cause of ARNSHL in these 30 families. The identification of novel as well as recurrent mutations in the present study increases the spectrum of mutations in known deafness genes which could lead to the identification of novel founder mutations and population specific mutated deafness genes causative of ARNSHL. These results provide detailed genetic information that has potential diagnostic implication in the establishment of cost-efficient allele-specific analysis of frequently occurring variants in combination with other reported mutations in Pakistani populations.

  9. A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.

    Science.gov (United States)

    Wasano, Koichiro; Mutai, Hideki; Obuchi, Chie; Masuda, Sawako; Matsunaga, Tatsuo

    2015-08-01

    Mutation of KCNQ4 has been reported to cause autosomal dominant non-syndromic hearing loss (DFNA2A) that usually presents as progressive hearing loss starting from mild to moderate hearing loss during childhood. Here, we identified a novel KCNQ4 mutation, c.1044_1051del8, in a family with autosomal recessive non-syndromic hearing loss. The proband was homozygous for the mutation and was born to consanguineous parents; she showed severe hearing loss that was either congenital or of early childhood onset. The proband had a sister who was heterozygous for the mutation but showed normal hearing. The mutation caused a frameshift that eliminated most of the cytoplasmic C-terminus, including the A-domain, which has an important role for protein tetramerization, and the B-segment, which is a binding site for calmodulin (CaM) that regulates channel function via Ca ions. The fact that the heterozygote had normal hearing indicates that sufficient tetramerization and CaM binding sites were present to preserve a normal phenotype even when only half the proteins contained an A-domain and B-segment. On the other hand, the severe hearing loss in the homozygote suggests that complete loss of the A-domain and B-segment in the protein caused loss of function due to the failure of tetramer formation and CaM binding. This family suggests that some KCNQ4 mutations can cause autosomal recessive hearing loss with more severe phenotype in addition to autosomal dominant hearing loss with milder phenotype. This genotype-phenotype correlation is analogous to that in KCNQ1 which causes autosomal dominant hereditary long QT syndrome 1 with milder phenotype and the autosomal recessive Jervell and Lange-Nielsen syndrome 1 with more severe phenotype due to deletion of the cytoplasmic C-terminus of the potassium channel.

  10. Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia

    DEFF Research Database (Denmark)

    Grau, Tanja; Artemyev, Nikolai O; Rosenberg, Thomas;

    2011-01-01

    Mutations in the gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase (PDE6C) have been recently reported in patients with autosomal recessive inherited achromatopsia (ACHM) and early-onset cone photoreceptor dysfunction. Here we present the results of a comprehensive...... characterization of six missense mutations applying the baculovirus system to express recombinant mutant and wildtype chimeric PDE6C/PDE5 proteins in Sf9 insect cells. Purified proteins were analyzed using Western blotting, phosphodiesterase (PDE) activity measurements as well as inhibition assays by zaprinast...

  11. Arthrogryposis multiplex with deafness, inguinal hernias, and early death: a family report of a probably autosomal recessive trait.

    Science.gov (United States)

    Tiemann, Christian; Bührer, Christoph; Burwinkel, Barbara; Wirtenberger, Michael; Hoehn, Thomas; Hübner, Christoph; van Landeghem, Frank K H; Stoltenburg, Gisela; Obladen, Michael

    2005-08-30

    We report on three male newborn infants of a highly inbred Lebanese family presenting with a characteristic phenotype: arthrogryposis multiplex, deafness, large inguinal hernia, hiccup-like diaphragmatic contractions, and inability to suck, requiring nasogastric gavage feeding. All three boys died from respiratory failure during the first 3 months of life. Intra vitam or post mortem examinations revealed myopathic changes and elevated glycogen content of muscle tissue. This new syndrome is probably transmitted in an autosomal recessive mode, although X-linked inheritance cannot be excluded.

  12. A Case of Autosomal Recessive Woolly Hair/Hypotrichosis with Alternation in Severity: Deterioration and Improvement with Age

    OpenAIRE

    Matsuno, Naoko; Kunisada, Makoto; Kanki, Haruhisa; Simomura, Yutaka; Nishigori, Chikako

    2013-01-01

    Autosomal recessive woolly hair/hypotrichosis (ARWH/H) is a nonsyndromic hair abnormality characterized by sparse, short and curly hair (WH/H). We report the case of a 3-year-old female, with no consanguineous ancestry, who exhibited WH/H. Normal hair was observed at birth, but severe hair loss had developed within the first 6 months; however, her hair density had improved somewhat by age 3. Light microscopy showed hair shaft invaginations, and polarized light microscopy suggested complete me...

  13. Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: A newly described autosomal recessive disorder

    Energy Technology Data Exchange (ETDEWEB)

    Chudley, A.E.; McCullough, C.; McCullough, D.W. [Univ. of Manitoba, Winnipeg (Canada)

    1997-01-31

    We identified a Canadian-Mennonite family in which a brother and sister have hydrocephalus due to obstruction at the foramen of Monro and profound bilateral sensorineural deafness. This appears to be a unique combination of anomalies and, to our knowledge, has not been reported previously. Both parents and a brother are phenotypically normal. The parents are second cousins. Thus, on the basis of consanguinity, affected sibs of both sexes, and in the absence of evidence for intrauterine infections or other adverse perinatal events, this syndrome is likely inherited in an autosomal recessive fashion. 37 refs., 5 figs.

  14. Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.

    Science.gov (United States)

    Tan, Christopher A; Rabideau, Marina; Blevins, Amy; Westbrook, Marjorie Jody; Ekstein, Tali; Nykamp, Keith; Deucher, Anne; Harper, Amy; Demmer, Laurie

    2016-06-01

    Pathogenic variants in the mitofusin 2 gene (MFN2) are the most common cause of autosomal dominant Charcot-Marie-Tooth (CMT2) disease, which is typically characterized by axonal sensorimotor neuropathy. We report on a 7-month-old white female with hypotonia, motor delay, distal weakness, and motor/sensory axonal neuropathy in which next-generation sequencing analysis identified compound heterozygous pathogenic variants (c.2054_2069_1170del and c.392A>G) in MFN2. A review of the literature reveals that sporadic and familial cases of compound heterozygous or homozygous pathogenic MFN2 variants have been infrequently described, which indicates that MFN2 can also be inherited in a recessive manner. This case highlights several clinical findings not typically associated with MFN2 pathogenic variants, including young age of onset and rapidly progressing diaphragmatic paresis that necessitated tracheostomy and mechanical ventilation, and adds to the growing list of features identified in autosomal recessive MFN2-related CMT2. Our patient with MFN2-related CMT2 expands the clinical and mutational spectrum of individuals with autosomal recessive CMT2 and identifies a new clinical feature that warrants further observation. © 2016 Wiley Periodicals, Inc.

  15. R-loops in proliferating cells but not in the brain: implications for AOA2 and other autosomal recessive ataxias.

    Directory of Open Access Journals (Sweden)

    Abrey J Yeo

    Full Text Available Disruption of the Setx gene, defective in ataxia oculomotor apraxia type 2 (AOA2 leads to the accumulation of DNA/RNA hybrids (R-loops, failure of meiotic recombination and infertility in mice. We report here the presence of R-loops in the testes from other autosomal recessive ataxia mouse models, which correlate with fertility in these disorders. R-loops were coincident in cells showing high basal levels of DNA double strand breaks and in those cells undergoing apoptosis. Depletion of Setx led to high basal levels of R-loops and these were enhanced further by DNA damage both in vitro and in vivo in tissues with proliferating cells. There was no evidence for accumulation of R-loops in the brains of mice where Setx, Atm, Tdp1 or Aptx genes were disrupted. These data provide further evidence for genome destabilization as a consequence of disrupted transcription in the presence of DNA double strand breaks arising during DNA replication or recombination. They also suggest that R-loop accumulation does not contribute to the neurodegenerative phenotype in these autosomal recessive ataxias.

  16. Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability

    DEFF Research Database (Denmark)

    Hansen, Lars; Tawamie, Hasan; Murakami, Yoshiko;

    2013-01-01

    PGAP2 encodes a protein involved in remodeling the glycosylphosphatidylinositol (GPI) anchor in the Golgi apparatus. After synthesis in the endoplasmic reticulum (ER), GPI anchors are transferred to the proteins and are remodeled while transported through the Golgi to the cell membrane. Germline...... mutations in six genes (PIGA, PIGL, PIGM, PIGV, PIGN, and PIGO) in the ER-located part of the GPI-anchor-biosynthesis pathway have been reported, and all are associated with phenotypes extending from malformation and lethality to severe intellectual disability, epilepsy, minor dysmorphisms, and elevated...... alkaline phosphatase (ALP). We performed autozygosity mapping and ultra-deep sequencing followed by stringent filtering and identified two homozygous PGAP2 alterations, p.Tyr99Cys and p.Arg177Pro, in seven offspring with nonspecific autosomal-recessive intellectual disability from two consanguineous...

  17. Familial Clustering of Unexplained Transient Respiratory Distress in 12 Newborns from Three Unrelated Families Suggests an Autosomal-Recessive Inheritance

    Directory of Open Access Journals (Sweden)

    Andrea Guala

    2007-01-01

    Full Text Available We report on 12 near-term babies from three families in which an unexplained transient respiratory distress was observed. No known risk factor was present in any family and no sequelae were recorded at follow-up. The most common causes of respiratory distress at birth are Neonatal Respiratory Distress Syndrome (NRD and Transient Tachypnea of the Newborn (TTN, and their cumulative incidence is estimated to be about 2%. Genetic factors have been identified in NRD (surfactant genes or suggested for TTN (genes affecting lung liquid clearance. Survivors from NRD may develop clinically relevant sequelae, while TTN does not cause any problem later in life. Our cases do not immediately fit NRD or TTN, while familial recurrence suggests the existence of a previously unreported subgroup on patients with respiratory distress for which autosomal-recessive inheritance is likely.

  18. Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

    Science.gov (United States)

    Chakchouk, Imen; Grati, M'hamed; Bademci, Guney; Bensaid, Mariem; Ma, Qi; Chakroun, Amine; Foster, Joseph; Yan, Denise; Duman, Duygu; Diaz-Horta, Oscar; Ghorbel, Abdelmonem; Mittal, Rahul; Farooq, Amjad; Tekin, Mustafa; Masmoudi, Saber; Liu, Xue Zhong

    2015-08-01

    Hearing loss (HL) is a major public health issue. It is clinically and genetically heterogeneous.The identification of the causal mutation is important for early diagnosis, clinical follow-up, and genetic counseling. HL due to mutations in COL11A2, encoding collagen type XI alpha-2, can be non-syndromic autosomal-dominant or autosomal-recessive, and also syndromic as in Otospondylomegaepiphyseal Dysplasia, Stickler syndrome type III, and Weissenbacher-Zweymuller syndrome. However, thus far only one mutation co-segregating with autosomal recessive non-syndromic hearing loss (ARNSHL) in a single family has been reported. In this study, whole exome sequencing of two consanguineous families with ARNSHL from Tunisia and Turkey revealed two novel causative COL11A2 mutations, c.109G > T (p.Ala37Ser) and c.2662C > A (p.Pro888Thr). The variants identified co-segregated with deafness in both families. All homozygous individuals in those families had early onset profound hearing loss across all frequencies without syndromic findings. The variants are predicted to be damaging the protein function. The p.Pro888Thr mutation affects a -Gly-X-Y- triplet repeat motif. The novel p.Ala37Ser is the first missense mutation located in the NC4 domain of the COL11A2 protein. Structural model suggests that this mutation will likely obliterate, or at least partially compromise, the ability of NC4 domain to interact with its cognate ligands. In conclusion, we confirm that COL11A2 mutations cause ARNSHL and broaden the mutation spectrum that may shed new light on genotype-phenotype correlation for the associated phenotypes and clinical follow-up. PMID:25633957

  19. Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.

    Science.gov (United States)

    Magen, Daniella; Georgopoulos, Costa; Bross, Peter; Ang, Debbie; Segev, Yardena; Goldsher, Dorit; Nemirovski, Alexandra; Shahar, Eli; Ravid, Sarit; Luder, Anthony; Heno, Bayan; Gershoni-Baruch, Ruth; Skorecki, Karl; Mandel, Hanna

    2008-07-01

    Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation. The prototype of primary HMLs is the X-linked Pelizaeus-Merzbacher disease (PMD) caused by mutations in PLP1. Recently, homozygous mutations in GJA12 encoding connexin 47 were found in patients with autosomal-recessive Pelizaeus-Merzbacher-like disease (PMLD). However, many patients of both genders with PMLD carry neither PLP1 nor GJA12 mutations. We report a consanguineous Israeli Bedouin kindred with clinical and radiological findings compatible with PMLD, in which linkage to PLP1 and GJA12 was excluded. Using homozygosity mapping and mutation analysis, we have identified a homozygous missense mutation (D29G) not previously described in HSPD1, encoding the mitochondrial heat-shock protein 60 (Hsp60) in all affected individuals. The D29G mutation completely segregates with the disease-associated phenotype. The pathogenic effect of D29G on Hsp60-chaperonin activity was verified by an in vivo E. coli complementation assay, which demonstrated compromised ability of the D29G-Hsp60 mutant protein to support E. coli survival, especially at high temperatures. The disorder, which we have termed MitCHAP-60 disease, can be distinguished from spastic paraplegia 13 (SPG13), another Hsp60-associated autosomal-dominant neurodegenerative disorder, by its autosomal-recessive inheritance pattern, as well as by its early-onset, profound cerebral involvement and lethality. Our findings suggest that Hsp60 defects can cause neurodegenerative pathologies of varying severity, not previously suspected on the basis of the SPG13 phenotype. These findings should help to clarify the important role of Hsp60 in myelinogenesis and neurodegeneration.

  20. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease

    DEFF Research Database (Denmark)

    Gal, Andreas; Rau, Isabella; El Matri, Leila;

    2011-01-01

    Posterior microphthalmos (MCOP) is a rare isolated developmental anomaly of the eye characterized by extreme hyperopia due to short axial length. The population of the Faroe Islands shows a high prevalence of an autosomal-recessive form (arMCOP) of the disease. Based on published linkage data, we...

  1. Microcefalia primária autossômica recessiva em três famílias pernambucanas: aspectos clínicos e moleculares Autosomal recessive primary microcephaly in three families from Pernambuco: clinical and molecular aspects

    Directory of Open Access Journals (Sweden)

    Gabriela F. Leal

    2005-06-01

    Full Text Available OBJETIVOS: descrever os aspectos clínicos de três famílias pernambucanas com microcefalia primária autossômica recessiva e as análises de ligação em uma delas (família 2. MÉTODOS: três famílias consangüíneas pernambucanas, não relacionadas biologicamente, com microcefalia primária, foram estudadas. Os heredogramas e a história clínica dos afetados foram construídos com base em informações obtidas de seus pais e outros parentes. O exame físico foi realizado em todos os afetados, seus genitores e na quase totalidade dos irmãos normais dos afetados. O DNA genômico dos afetados da família 2 e de seus pais foi usado em reações de PCR (polimerase chain reaction com primers elaborados para amplificar marcadores microssatélites ligados aos locos já conhecidos de microcefalia primária autossômica recessiva. Os marcadores amplificados foram submetidos a eletroforese e seus alelos analisados. RESULTADOS: nas três famílias, os afetados apresentavam perímetro cefálico muito reduzido acompanhado de retardo mental e apenas uma paciente (da família 3 manifestava outras alterações neurológicas, mas sem dismorfias associadas. Estudos moleculares demonstraram que a microcefalia, na família 2, não apresentava ligação com nenhum dos locos associados à microcefalia primária autossômica recessiva já conhecidos. CONCLUSÕES: pelo menos mais um gene associado à microcefalia primária autossômica recessiva existe e aguarda identificação.OBJECTIVES: to describe the clinical findings in three families from Pernambuco with autosomal recessive primary microcephaly, and the linkage analysis in one of them (family 2. METHODS: three consanguineous families from Pernambuco, not related one to another and with primary microcephaly, were studied. The genealogical data and the clinical history of the affected individuals were obtained from their parents and other family members. All the affected subjects, almost all their normal

  2. Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

    Science.gov (United States)

    Heidari, Abolfazl; Tongsook, Chanakan; Najafipour, Reza; Musante, Luciana; Vasli, Nasim; Garshasbi, Masoud; Hu, Hao; Mittal, Kirti; McNaughton, Amy J M; Sritharan, Kumudesh; Hudson, Melissa; Stehr, Henning; Talebi, Saeid; Moradi, Mohammad; Darvish, Hossein; Arshad Rafiq, Muhammad; Mozhdehipanah, Hossein; Rashidinejad, Ali; Samiei, Shahram; Ghadami, Mohsen; Windpassinger, Christian; Gillessen-Kaesbach, Gabriele; Tzschach, Andreas; Ahmed, Iltaf; Mikhailov, Anna; Stavropoulos, D James; Carter, Melissa T; Keshavarz, Soraya; Ayub, Muhammad; Najmabadi, Hossein; Liu, Xudong; Ropers, Hans Hilger; Macheroux, Peter; Vincent, John B

    2015-10-15

    Histamine (HA) acts as a neurotransmitter in the brain, which participates in the regulation of many biological processes including inflammation, gastric acid secretion and neuromodulation. The enzyme histamine N-methyltransferase (HNMT) inactivates HA by transferring a methyl group from S-adenosyl-l-methionine to HA, and is the only well-known pathway for termination of neurotransmission actions of HA in mammalian central nervous system. We performed autozygosity mapping followed by targeted exome sequencing and identified two homozygous HNMT alterations, p.Gly60Asp and p.Leu208Pro, in patients affected with nonsyndromic autosomal recessive intellectual disability from two unrelated consanguineous families of Turkish and Kurdish ancestry, respectively. We verified the complete absence of a functional HNMT in patients using in vitro toxicology assay. Using mutant and wild-type DNA constructs as well as in silico protein modeling, we confirmed that p.Gly60Asp disrupts the enzymatic activity of the protein, and that p.Leu208Pro results in reduced protein stability, resulting in decreased HA inactivation. Our results highlight the importance of inclusion of HNMT for genetic testing of individuals presenting with intellectual disability. PMID:26206890

  3. Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3.

    Directory of Open Access Journals (Sweden)

    Yanping Lu

    Full Text Available Meckel-Gruber syndrome type 3 is an autosomal recessive genetic defect caused by mutations in TMEM67 gene. In our previous study, we have identified a homozygous TMEM67 mutation in a Chinese family exhibiting clinical characteristics of MKS3, which provided a ground for further PGD procedure. Here we report the development and the first clinical application of the PGD for this MKS3 family. Molecular analysis protocol for clinical PGD procedure was established using 50 single cells in pre-clinical set-up. After whole genomic amplification by multiple displacement amplification with the DNA from single cells, three techniques were applied simultaneously to increase the accuracy and reliability of genetic diagnosis in single blastomere, including real-time PCR with Taq Man-MGB probe, haplotype analysis with polymorphic STR markers and Sanger sequencing. In the clinical PGD cycle, nine embryos at cleavage-stage were biopsied and subjected to genetic diagnosis. Two embryos diagnosed as free of TMEM67 mutation were transferred and one achieving normal pregnancy. Non-invasive prenatal assessment of trisomy 13, 18 and 21 by multiplex DNA sequencing at 18 weeks' gestation excluded the aneuploidy of the analyzed chromosomes. A healthy boy was delivered by cesarean section at 39 weeks' gestation. DNA sequencing from his cord blood confirmed the result of genetic analysis in the PGD cycle. The protocol developed in this study was proved to be rapid and safe for the detection of monogenic mutations in clinical PGD cycle.

  4. Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27

    Energy Technology Data Exchange (ETDEWEB)

    Matsumine, Hiroto; Shimoda-Matsubayashi, Satoe; Nakagawa-Hattori, Yuko [Tokyo Metropolitan Ebara Hospital (Japan)] [and others

    1997-03-01

    An autosomal recessive form of juvenile Parkinsonism (AR-JP) (MIM 600116) is a levodopa-responsive Parkinsonism whose pathological finding is a highly selective degeneration of dopaminergic neurons in the zona compacta of the substantia nigra. By linkage analysis of diallelic polymorphism of the Mn-superoxide dismutase gene (SOD2), we found a family with AR-JP showing perfect segregation of the disease with the SOD2 locus. By extending the linkage analysis to 13 families with AR-JP, we discovered strong evidence for the localization of the AR-JP gene at chromosome 6q25.2-27, including the SOD2 locus, with the maximal cumulative pairwise LOD scores of 7.26 and 7.71 at D6S305 ({theta} = .03) and D6S253 ({theta} = .02), respectively. Observation of obligate recombination events, as well as multipoint linkage analysis, placed the AR-JP gene in a 17-cM interval between D6S437 and D6S264. Delineation of the AR-JP gene will be an important step toward our understanding of the molecular mechanism underlying selective degeneration of the nigral neurons. 38 refs., 4 figs., 1 tab.

  5. A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.

    Science.gov (United States)

    Roos, L; Fang, M; Dali, C; Jensen, H; Christoffersen, N; Wu, B; Zhang, J; Xu, R; Harris, P; Xu, X; Grønskov, K; Tümer, Z

    2014-09-01

    Anomalies of eye development can lead to the rare eye malformations microphthalmia and anophthalmia (small or absent ocular globes), which are genetically very heterogeneous. Several genes have been associated with microphthalmia and anophthalmia, and exome sequencing has contributed to the identification of new genes. Very recently, homozygous variations within ALDH1A3 have been associated with autosomal recessive microphthalmia with or without cysts or coloboma, and with variable subphenotypes of developmental delay/autism spectrum disorder in eight families. In a consanguineous family where three of the five siblings were affected with microphthalmia/coloboma, we identified a novel homozygous missense mutation in ALDH1A3 using exome sequencing. Of the three affected siblings, one had intellectual disability and one had intellectual disability and autism, while the last one presented with normal development. This study contributes further to the description of the clinical spectrum associated with ALDH1A3 mutations, and illustrates the interfamilial clinical variation observed in individuals with ALDH1A3 mutations.

  6. GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness

    OpenAIRE

    Peachey, Neal S.; Ray, Thomas A.; Florijn, Ralph; Rowe, Lucy B.; Sjoerdsma, Trijntje; Contreras-Alcantara, Susana; Baba, Kenkichi; Tosini, Gianluca; Pozdeyev, Nikita; Iuvone, P. Michael; Bojang, Pasano; Pearring, Jillian N.; Simonsz, Huibert Jan; van Genderen, Maria; Birch, David G.

    2012-01-01

    textabstractComplete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impairment of night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual functions. We report here that mutations in GPR179, encoding an orphan G protein receptor, underlie a form of autosomal-recessive cCSNB. The Gpr179nob5/nob5mouse model was initially discovered by th...

  7. Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.

    OpenAIRE

    Beggs, A H; Neumann, P E; Arahata, K; Arikawa, E; Nonaka, I; Anderson, M S; Kunkel, L. M.

    1992-01-01

    Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy. However, several patients have recently been identified with dystrophin deficiency who, before dystrophin testing, were considered to have Fukuyama congenital muscular dystrophy (FCMD) on the basis of clinical findings. Epidemiologic data suggest that only 1/3500 males with autosomal recessive FCMD should have abnormal dystrophin. To explain th...

  8. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

    Science.gov (United States)

    Lesage, Suzanne; Drouet, Valérie; Majounie, Elisa; Deramecourt, Vincent; Jacoupy, Maxime; Nicolas, Aude; Cormier-Dequaire, Florence; Hassoun, Sidi Mohamed; Pujol, Claire; Ciura, Sorana; Erpapazoglou, Zoi; Usenko, Tatiana; Maurage, Claude-Alain; Sahbatou, Mourad; Liebau, Stefan; Ding, Jinhui; Bilgic, Basar; Emre, Murat; Erginel-Unaltuna, Nihan; Guven, Gamze; Tison, François; Tranchant, Christine; Vidailhet, Marie; Corvol, Jean-Christophe; Krack, Paul; Leutenegger, Anne-Louise; Nalls, Michael A; Hernandez, Dena G; Heutink, Peter; Gibbs, J Raphael; Hardy, John; Wood, Nicholas W; Gasser, Thomas; Durr, Alexandra; Deleuze, Jean-François; Tazir, Meriem; Destée, Alain; Lohmann, Ebba; Kabashi, Edor; Singleton, Andrew; Corti, Olga; Brice, Alexis

    2016-03-01

    Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease (PD) remain to be elucidated. Homozygozity mapping and exome sequencing in 62 isolated individuals with early-onset parkinsonism and confirmed consanguinity followed by data mining in the exomes of 1,348 PD-affected individuals identified, in three isolated subjects, homozygous or compound heterozygous truncating mutations in vacuolar protein sorting 13C (VPS13C). VPS13C mutations are associated with a distinct form of early-onset parkinsonism characterized by rapid and severe disease progression and early cognitive decline; the pathological features were striking and reminiscent of diffuse Lewy body disease. In cell models, VPS13C partly localized to the outer membrane of mitochondria. Silencing of VPS13C was associated with lower mitochondrial membrane potential, mitochondrial fragmentation, increased respiration rates, exacerbated PINK1/Parkin-dependent mitophagy, and transcriptional upregulation of PARK2 in response to mitochondrial damage. This work suggests that loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a distinctive phenotype of rapid and severe progression. PMID:26942284

  9. Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Beggs, A.H.; Neumann, P.E.; Anderson, M.S.; Kunkel, L.M. (Harvard Medical School, Boston, MA (United States)); Arahata, Kiichi; Arikawa, Eri; Nonaka, Ikuya (National Inst. of Neuroscience, Tokyo (Japan))

    1992-01-15

    Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy. However, several patients have recently been identified with dystrophin deficiency who, before dystrophin testing, were considered to have Fukuyama congenital muscular dystrophy (FCMD) on the basis of clinical findings. Epidemiologic data suggest that only 1/3,500 males with autosomal recessive FCMD should have abnormal dystrophin. To explain the observation of 3/23 FCMD males with abnormal dystrophin, the authors propose that dystrophin and the FCMD gene product interact and that the earlier onset and greater severity of these patients' phenotype (relative to Duchenne muscular dystrophy) are due to their being heterozygous for the FCMD mutation in addition to being hemizygous for Duchenne muscular dystrophy, a genotype that is predicted to occur in 1/175,000 Japanese males. This model may help explain the genetic basis for some of the clinical and pathological variability seen among patients with FCMD, and it has potential implications for understanding the inheritance of other autosomal recessive disorders in general. For example, sex ratios for rare autosomal recessive disorders caused by mutations in proteins that interact with X chromosome-linked gene products may display predictable deviation from 1:1.

  10. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

    Science.gov (United States)

    Lesage, Suzanne; Drouet, Valérie; Majounie, Elisa; Deramecourt, Vincent; Jacoupy, Maxime; Nicolas, Aude; Cormier-Dequaire, Florence; Hassoun, Sidi Mohamed; Pujol, Claire; Ciura, Sorana; Erpapazoglou, Zoi; Usenko, Tatiana; Maurage, Claude-Alain; Sahbatou, Mourad; Liebau, Stefan; Ding, Jinhui; Bilgic, Basar; Emre, Murat; Erginel-Unaltuna, Nihan; Guven, Gamze; Tison, François; Tranchant, Christine; Vidailhet, Marie; Corvol, Jean-Christophe; Krack, Paul; Leutenegger, Anne-Louise; Nalls, Michael A.; Hernandez, Dena G.; Heutink, Peter; Gibbs, J. Raphael; Hardy, John; Wood, Nicholas W.; Gasser, Thomas; Durr, Alexandra; Deleuze, Jean-François; Tazir, Meriem; Destée, Alain; Lohmann, Ebba; Kabashi, Edor; Singleton, Andrew; Corti, Olga; Brice, Alexis; Lesage, Suzanne; Tison, François; Vidailhet, Marie; Corvol, Jean-Christophe; Agid, Yves; Anheim, Mathieu; Bonnet, Anne-Marie; Borg, Michel; Broussolle, Emmanuel; Damier, Philippe; Destée, Alain; Dürr, Alexandra; Durif, Franck; Krack, Paul; Klebe, Stephan; Lohmann, Ebba; Martinez, Maria; Pollak, Pierre; Rascol, Olivier; Tranchant, Christine; Vérin, Marc; Viallet, François; Brice, Alexis; Lesage, Suzanne; Majounie, Elisa; Tison, François; Vidailhet, Marie; Corvol, Jean Christophe; Nalls, Michael A.; Hernandez, Dena G.; Gibbs, J. Raphael; Dürr, Alexandra; Arepalli, Sampath; Barker, Roger A.; Ben-Shlomo, Yoav; Berg, Daniela; Bettella, Francesco; Bhatia, Kailash; de Bie, Rob M.A.; Biffi, Alessandro; Bloem, Bastiaan R.; Bochdanovits, Zoltan; Bonin, Michael; Lesage, Suzanne; Tison, François; Vidailhet, Marie; Corvol, Jean-Christophe; Agid, Yves; Anheim, Mathieu; Bonnet, Anne-Marie; Borg, Michel; Broussolle, Emmanuel; Damier, Philippe; Destée, Alain; Dürr, Alexandra; Durif, Franck; Krack, Paul; Klebe, Stephan; Lohmann, Ebba; Martinez, Maria; Pollak, Pierre; Rascol, Olivier; Tranchant, Christine; Vérin, Marc; Bras, Jose M.; Brockmann, Kathrin; Brooks, Janet; Burn, David J.; Charlesworth, Gavin; Chen, Honglei; Chinnery, Patrick F.; Chong, Sean; Clarke, Carl E.; Cookson, Mark R.; Counsell, Carl; Damier, Philippe; Dartigues, Jean-François; Deloukas, Panos; Deuschl, Günther; Dexter, David T.; van Dijk, Karin D.; Dillman, Allissa; Dong, Jing; Durif, Frank; Edkins, Sarah; Escott-Price, Valentina; Evans, Jonathan R.; Foltynie, Thomas; Gao, Jianjun; Gardner, Michelle; Goate, Alison; Gray, Emma; Guerreiro, Rita; Harris, Clare; van Hilten, Jacobus J.; Hofman, Albert; Hollenbeck, Albert; Holmans, Peter; Holton, Janice; Hu, Michèle; Huang, Xuemei; Huber, Heiko; Hudson, Gavin; Hunt, Sarah E.; Huttenlocher, Johanna; Illig, Thomas; Jónsson, Pálmi V.; Kilarski, Laura L.; Jansen, Iris E.; Lambert, Jean-Charles; Langford, Cordelia; Lees, Andrew; Lichtner, Peter; Limousin, Patricia; Lopez, Grisel; Lorenz, Delia; Lubbe, Steven; Lungu, Codrin; Martinez, María; Mätzler, Walter; McNeill, Alisdair; Moorby, Catriona; Moore, Matthew; Morrison, Karen E.; Mudanohwo, Ese; O’Sullivan, Sean S.; Owen, Michael J.; Pearson, Justin; Perlmutter, Joel S.; Pétursson, Hjörvar; Plagnol, Vincent; Pollak, Pierre; Post, Bart; Potter, Simon; Ravina, Bernard; Revesz, Tamas; Riess, Olaf; Rivadeneira, Fernando; Rizzu, Patrizia; Ryten, Mina; Saad, Mohamad; Simón-Sánchez, Javier; Sawcer, Stephen; Schapira, Anthony; Scheffer, Hans; Schulte, Claudia; Sharma, Manu; Shaw, Karen; Sheerin, Una-Marie; Shoulson, Ira; Shulman, Joshua; Sidransky, Ellen; Spencer, Chris C.A.; Stefánsson, Hreinn; Stefánsson, Kári; Stockton, Joanna D.; Strange, Amy; Talbot, Kevin; Tanner, Carlie M.; Tashakkori-Ghanbaria, Avazeh; Trabzuni, Daniah; Traynor, Bryan J.; Uitterlinden, André G.; Velseboer, Daan; Walker, Robert; van de Warrenburg, Bart; Wickremaratchi, Mirdhu; Williams-Gray, Caroline H.; Winder-Rhodes, Sophie; Wurster, Isabel; Williams, Nigel; Morris, Huw R.; Heutink, Peter; Hardy, John; Wood, Nicholas W.; Gasser, Thomas; Singleton, Andrew B.; Brice, Alexis

    2016-01-01

    Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease (PD) remain to be elucidated. Homozygozity mapping and exome sequencing in 62 isolated individuals with early-onset parkinsonism and confirmed consanguinity followed by data mining in the exomes of 1,348 PD-affected individuals identified, in three isolated subjects, homozygous or compound heterozygous truncating mutations in vacuolar protein sorting 13C (VPS13C). VPS13C mutations are associated with a distinct form of early-onset parkinsonism characterized by rapid and severe disease progression and early cognitive decline; the pathological features were striking and reminiscent of diffuse Lewy body disease. In cell models, VPS13C partly localized to the outer membrane of mitochondria. Silencing of VPS13C was associated with lower mitochondrial membrane potential, mitochondrial fragmentation, increased respiration rates, exacerbated PINK1/Parkin-dependent mitophagy, and transcriptional upregulation of PARK2 in response to mitochondrial damage. This work suggests that loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a distinctive phenotype of rapid and severe progression. PMID:26942284

  11. Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.

    Directory of Open Access Journals (Sweden)

    Cali E Willet

    Full Text Available Spondylocostal dysostosis is a congenital disorder of the axial skeleton documented in human families from diverse racial backgrounds. The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number. Mutations in the Notch signalling pathway genes DLL3, MESP2, LFNG, HES7 and TBX6 have been associated with this defect. In this study, spondylocostal dysostosis in an outbred family of miniature schnauzer dogs is described. Computed tomography demonstrated that the condition mirrors the skeletal defects observed in human cases, but unlike most human cases, the affected dogs were stillborn or died shortly after birth. Through gene mapping and whole genome sequencing, we identified a single-base deletion in the coding region of HES7. The frameshift mutation causes loss of functional domains essential for the oscillatory transcriptional autorepression of HES7 during somitogenesis. A restriction fragment length polymorphism test was applied within the immediate family and supported a highly penetrant autosomal recessive mode of inheritance. The mutation was not observed in wider testing of 117 randomly sampled adult miniature schnauzer and six adult standard schnauzer dogs; providing a significance of association of Praw = 4.759e-36 (genome-wide significant. Despite this apparently low frequency in the Australian population, the allele may be globally distributed based on its presence in two unrelated sires from geographically distant locations. While isolated hemivertebrae have been observed in a small number of other dog breeds, this is the first clinical and genetic diagnosis of spontaneously occurring spondylocostal dysostosis in a non-human mammal and offers an excellent model in which to study this devastating human disorder. The genetic test can be utilized by dog breeders to select away from the disease and avoid unnecessary neonatal losses.

  12. Exome sequencing identifies compound heterozygous PKHD1mutations as a cause of autosomal recessive polycystic kidney disease

    Institute of Scientific and Technical Information of China (English)

    ZHANG Da; LU Lin; YANG Hong-bo; LI Mei; SUN Hao; ZENG Zheng-pei; LI Xin-ping; XIA Wei-bo; XING Xiao-ping

    2012-01-01

    Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disease,which is a disorder with multiple organ involvement,mainly the kidney and liver.It is caused by mutations in the PKHD1 gene.Here,we reported the clinical characteristics of a case with ARPKD and analyze the genetic features of this patient as well as of his father using targeted exome sequencing and Sanger sequencing.Methods Genomic DNA was extracted from peripheral blood leukocytes obtained from a patient with ARPKD.The mutations were identified using exome sequencing and confirmed by Sanger sequencing.Results The patient was diagnosed as ARPKD based on ultrasonography and abdominal computed tomography which showed polycystic changes,multiple calcinosis of both kidneys,and multiple dilated bile ducts of the liver.Compound heterozygous PKHD1 gene mutations A979G and G5935A,which lead to substitution of an asparagine for an aspartate at amino acid 327 (N327D) and a glycine for an arginine at amino acid 1979 (G1979R) respectively,were identified using targeted exome sequencing and confirmed by Sanger sequencing for the patient.In addition,the father of the patient was identified to be a carrier of heterozygous A979G mutation of this gene.Conclusions We identified that the compound heterozygous PKHD1 gene mutations are the molecular basis of the patient with ARPKD.Targeted exome sequencing is suitable for genetic diagnosis of single-gene inherited diseases like ARPKD in which the pathogenic gene is a large.

  13. Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes.

    Science.gov (United States)

    Büscher, Rainer; Büscher, Anja K; Weber, Stefanie; Mohr, Julia; Hegen, Bianca; Vester, Udo; Hoyer, Peter F

    2014-10-01

    Autosomal recessive polycystic kidney disease (ARPKD), although less frequent than the dominant form, is a common, inherited ciliopathy of childhood that is caused by mutations in the PKHD1-gene on chromosome 6. The characteristic dilatation of the renal collecting ducts starts in utero and can present at any stage from infancy to adulthood. Renal insufficiency may already begin in utero and may lead to early abortion or oligohydramnios and lung hypoplasia in the newborn. However, there are also affected children who have no evidence of renal dysfunction in utero and who are born with normal renal function. Up to 30 % of patients die in the perinatal period, and those surviving the neonatal period reach end stage renal disease (ESRD) in infancy, early childhood or adolescence. In contrast, some affected patients have been diagnosed as adults with renal function ranging from normal to moderate renal insufficiency to ESRD. The clinical spectrum of ARPKD is broader than previously recognized. While bilateral renal enlargement with microcystic dilatation is the predominant clinical feature, arterial hypertension, intrahepatic biliary dysgenesis remain important manifestations that affect approximately 45 % of infants. All patients with ARPKD develop clinical findings of congenital hepatic fibrosis (CHF); however, non-obstructive dilation of the intrahepatic bile ducts in the liver (Caroli's disease) is seen at the histological level in only a subset of patients. Cholangitis and variceal bleeding, sequelae of portal hypertension, are life-threatening complications that may occur more often in advanced cases of liver disease. In this review we focus on common and uncommon kidney-related and non-kidney-related phenotypes. Clinical management of ARPKD patients should include consideration of potential problems related to these manifestations.

  14. Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family

    NARCIS (Netherlands)

    Morava, E.; Kuhnisch, J.; Drijvers, J.M.; Robben, J.H.; Cremers, C.W.R.J.; Setten, P. van; Branten, A.J.W.; Stumpp, S.; Jong, A. de; Voesenek, K.E.J.; Vermeer, S.; Heister, A.; Claahsen-van der Grinten, H.L.; O'Neill, C.W.; Willemsen, M.H.; Lefeber, D.J.; Deen, P.M.T.; Kornak, U.; Kremer, J.M.J.; Wevers, R.A.

    2011-01-01

    CONTEXT: Mutations in ANKH cause the highly divergent conditions familial chondrocalcinosis and craniometaphyseal dysplasia. The gene product ANK is supposed to regulate tissue mineralization by transporting pyrophosphate to the extracellular space. OBJECTIVE: We evaluated several family members of

  15. Skeletal muscle, but not cardiovascular function, is altered in a mouse model of autosomal recessive hypophosphatemic rickets

    Directory of Open Access Journals (Sweden)

    Michael J. Wacker

    2016-05-01

    Full Text Available Autosomal recessive hypophosphatemic rickets (ARHR is a heritable disorder characterized by hypophosphatemia, osteomalacia, and poor bone development. ARHR results from inactivating mutations in the DMP1 gene with the human phenotype being recapitulated in the Dmp1 null mouse model which displays elevated plasma fibroblast growth factor 23. While the bone phenotype has been well characterized, it is not known what effects ARHR may also have on skeletal, cardiac, or vascular smooth muscle function, which is critical to understand to treat patients suffering from this condition. In this study, the extensor digitorum longus (EDL- fast-twitch muscle, soleus (SOL- slow-twitch muscle, heart, and aorta were removed from Dmp1 null mice and ex-vivo functional tests were simultaneously performed in collaboration by three different laboratories. Dmp1 null EDL and SOL muscles produced less force than wildtype muscles after normalization for physiological cross sectional area of the muscles. Both EDL and SOL muscles from Dmp1 null mice also produced less force after the addition of caffeine (which releases calcium from the sarcoplasmic reticulum which may indicate problems in excitation contraction coupling in these mice. While the body weights of the Dmp1 null were smaller than wildtype, the heart weight to body weight ratio was higher. However, there were no differences in pathological hypertrophic gene expression compared to wildtype and maximal force of contraction was not different indicating that there may not be cardiac pathology under the tested conditions. We did observe a decrease in the rate of force development generated by cardiac muscle in the Dmp1 null which may be related to some of the deficits observed in skeletal muscle. There were no differences observed in aortic contractions induced by PGF2a or 5-HT or in endothelium-mediated acetylcholine-induced relaxations or endothelium-independent sodium nitroprusside-induced relaxations. In

  16. Skeletal Muscle, but not Cardiovascular Function, Is Altered in a Mouse Model of Autosomal Recessive Hypophosphatemic Rickets.

    Science.gov (United States)

    Wacker, Michael J; Touchberry, Chad D; Silswal, Neerupma; Brotto, Leticia; Elmore, Chris J; Bonewald, Lynda F; Andresen, Jon; Brotto, Marco

    2016-01-01

    Autosomal recessive hypophosphatemic rickets (ARHR) is a heritable disorder characterized by hypophosphatemia, osteomalacia, and poor bone development. ARHR results from inactivating mutations in the DMP1 gene with the human phenotype being recapitulated in the Dmp1 null mouse model which displays elevated plasma fibroblast growth factor 23. While the bone phenotype has been well-characterized, it is not known what effects ARHR may also have on skeletal, cardiac, or vascular smooth muscle function, which is critical to understand in order to treat patients suffering from this condition. In this study, the extensor digitorum longus (EDL-fast-twitch muscle), soleus (SOL-slow-twitch muscle), heart, and aorta were removed from Dmp1 null mice and ex-vivo functional tests were simultaneously performed in collaboration by three different laboratories. Dmp1 null EDL and SOL muscles produced less force than wildtype muscles after normalization for physiological cross sectional area of the muscles. Both EDL and SOL muscles from Dmp1 null mice also produced less force after the addition of caffeine (which releases calcium from the sarcoplasmic reticulum) which may indicate problems in excitation contraction coupling in these mice. While the body weights of the Dmp1 null were smaller than wildtype, the heart weight to body weight ratio was higher. However, there were no differences in pathological hypertrophic gene expression compared to wildtype and maximal force of contraction was not different indicating that there may not be cardiac pathology under the tested conditions. We did observe a decrease in the rate of force development generated by cardiac muscle in the Dmp1 null which may be related to some of the deficits observed in skeletal muscle. There were no differences observed in aortic contractions induced by PGF2α or 5-HT or in endothelium-mediated acetylcholine-induced relaxations or endothelium-independent sodium nitroprusside-induced relaxations. In summary, these

  17. Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.

    Directory of Open Access Journals (Sweden)

    Kana Tanahashi

    Full Text Available Mutations in LIPH cause of autosomal recessive woolly hair/hypotrichosis (ARWH, and the 2 missense mutations c.736T>A (p.Cys246Ser and c.742C>A (p.His248Asn are considered prevalent founder mutations for ARWH in the Japanese population. To reveal genotype/phenotype correlations in ARWH cases in Japan and the haplotypes in 14 Japanese patients from 14 unrelated Japanese families. 13 patients had woolly hair, and 1 patient had complete baldness since birth. An LIPH mutation search revealed homozygous c.736T>A mutations in 10 of the patients. Compound heterozygous c.736T>A and c.742C>A mutations were found in 3 of the patients, and homozygous c.742C>A mutation in 1 patient. The phenotype of mild hypotrichosis with woolly hair was restricted to the patients with the homozygous c.736T>A mutation. The severe phenotype of complete baldness was seen in only 1 patient with homozygous c.742C>A. Haplotype analysis revealed that the alleles containing the LIPH c.736T>A mutation had a haplotype identical to that reported previously, although 4 alleles out of 5 chromosomes containing the LIPH c.742C>A mutation had a different haplotype from the previously reported founder allele. These alleles with c.742C>A are thought to be the third founder LIPH mutation causing ARWH. To accurately determine the prevalence of the founder mutations, we investigated allele frequencies of those mutations in 819 Japanese controls. Heterozygous c.736T>A mutations were found in 13 controls (allele frequency: 0.0079; carrier rate: 0.016, and heterozygous c.742C>A mutations were found in 2 controls (allele frequency: 0.0012; carrier rate: 0.0024. In conclusion, this study confirms the more accurate allele frequencies of the pathogenic founder mutations of LIPH and shows that there is a third founder mutation in Japan. In addition, the present findings suggest that the mutation patterns of LIPH might be associated with hypotrichosis severity in ARWH.

  18. Congenital sensorineural deafness in Australian stumpy-tail cattle dogs is an autosomal recessive trait that maps to CFA10.

    Directory of Open Access Journals (Sweden)

    Susan Sommerlad

    -value = 3.64, as was both coat colour and speckling. Fine mapping was then performed on 45 of these 50 dogs and a further 48 dogs (n = 93. Sequencing candidate gene Sox10 in 6 hearing ASCD, 2 unilaterally deaf ASCD and 2 bilaterally deaf ASCD did not reveal any disease-associated mutations. CONCLUSIONS: Deafness in ASCD is an incompletely penetrant autosomal recessive inherited disease that maps to CFA10.

  19. Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis.

    Science.gov (United States)

    Kastl, I; Anton-Lamprecht, I; Gamborg Nielsen, P

    1990-01-01

    A new kind of diffuse palmoplantar keratoderma with autosomal recessive inheritance and without associated symptoms was described in Norrbotten, Sweden by Gamborg Nielsen in 1985. Clinically, it ranges between the less severe dominant Unna-Thost type and the more severe recessive Meleda type, as it is milder than the latter. Skin biopsies of five patients from three different families with this new palmoplantar keratoderma, as well as five obligatory heterozygotes from one family, were investigated ultrastructurally in order to characterize this new entity and to differentiate it from the Meleda type. Several features are common to both autosomal recessive palmoplantar keratoses. They show a broadened granular layer, a transit region consisting of cells with a marginal envelope, and considerable hyperkeratosis. Morphologically, this transformation delay is less pronounced in the Gamborg Nielsen type than in the classical Meleda type. As is typical for ridged skin, both types of palmoplantar keratoses possess composite keratohyaline granules. In contrast to the normal appearance of keratohyaline granules in the Meleda type, the Gamborg Nielsen type also shows qualitative deviations of keratohyaline granules with different degrees of spongiosity and electron density and sometimes with a granular border. It seems that abnormal keratohyaline proteins are synthesized that behave differently. The sudden transformation of a granular into a horny cell is physiologically regulated by different enzymes. A delay in this process may be caused by a mutation that reduces or alters the enzymes concerned. We assume the palmoplantar keratoderma of the Gamborg Nielsen type to be a variant of the heterogeneous group of the Meleda type of palmoplantar keratoderma with autosomal recessive inheritance.

  20. The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa

    DEFF Research Database (Denmark)

    Riess, O; Noerremoelle, A; Weber, B;

    1992-01-01

    including 196 bp of the 5' region of the PDEB gene have been assessed for mutations by using single-strand conformational polymorphism analysis in 14 patients from 13 unrelated families with autosomal recessive retinitis pigmentosa (ARRP). No disease-causing mutations were found in this group of affected...... individuals of seven different ancestries. However, a frequent intronic and two exonic polymorphisms (Leu489----Gln and Gly842----Gly) were identified. Segregation analysis using these polymorphic sites excludes linkage of ARRP to the PDEB gene in a family with two affected children....

  1. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease

    DEFF Research Database (Denmark)

    Gal, Andreas; Rau, Isabella; El Matri, Leila;

    2011-01-01

    Posterior microphthalmos (MCOP) is a rare isolated developmental anomaly of the eye characterized by extreme hyperopia due to short axial length. The population of the Faroe Islands shows a high prevalence of an autosomal-recessive form (arMCOP) of the disease. Based on published linkage data, we...... heterogeneity of the trait. Using RT-PCR, PRSS56 transcripts were detected in samples derived from the human adult retina, cornea, sclera, and optic nerve. The expression of the mouse ortholog could be first detected in the eye at E17 and was maintained into adulthood. The predicted PRSS56 protein is a 603...

  2. In vitro and in vivo characterization of histone deacetylase inhibitors as potential therapeutics for autosomal recessive proximal spinal muscular atrophy (SMA)

    OpenAIRE

    Rießland, Markus

    2009-01-01

    Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder and the leading hereditary cause of death in early childhood. No cure is available. The disease determining gene for SMA is the survival motor neuron gene 1. SMN1 produces full length transcripts only, whereas the majority of transcripts derived from the copy gene SMN2 lack exon 7 due to alternative splicing. Although the amount of fully-functional SMN2-derived FL-SMN protein is not sufficient to overcome the absen...

  3. Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.

    Science.gov (United States)

    Zhou, Yu; Saikia, Bibhuti B; Jiang, Zhilin; Zhu, Xiong; Liu, Yuqing; Huang, Lulin; Kim, Ramasamy; Yang, Yin; Qu, Chao; Hao, Fang; Gong, Bo; Tai, Zhengfu; Niu, Lihong; Yang, Zhenglin; Sundaresan, Periasamy; Zhu, Xianjun

    2015-10-01

    Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal degenerations caused by mutations in at least 50 genes. To identify genetic mutations underlying autosomal recessive RP (arRP), we performed whole-exome sequencing study on two consanguineous marriage Indian families (RP-252 and RP-182) and 100 sporadic RP patients. Here we reported novel mutation in FAM161A in RP-252 and RP-182 with two patients affected with RP in each family. The FAM161A gene was identified as the causative gene for RP28, an autosomal recessive form of RP. By whole-exome sequencing we identified several homozygous genomic regions, one of which included the recently identified FAM161A gene mutated in RP28-linked arRP. Sequencing analysis revealed the presence of a novel homozygous frameshift mutation p.R592FsX2 in both patients of family RP-252 and family RP-182. In 100 sporadic Indian RP patients, this novel homozygous frameshift mutation p.R592FsX2 was identified in one sporadic patient ARRP-S-I-46 by whole-exome sequencing and validated by Sanger sequencing. Meanwhile, this homozygous frameshift mutation was absent in 1000 ethnicity-matched control samples screened by direct Sanger sequencing. In conclusion, we identified a novel homozygous frameshift mutations of RP28-linked RP gene FAM161A in Indian population.

  4. A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

    Directory of Open Access Journals (Sweden)

    Zamba-Papanicolaou Eleni

    2008-04-01

    Full Text Available Abstract Background Senataxin (chromosome 9q34 was recently identified as the causative gene for an autosomal recessive form of Ataxia (ARCA, termed as Ataxia with Oculomotor Apraxia, type 2 (AOA2 and characterized by generalized incoordination, cerebellar atrophy, peripheral neuropathy, "oculomotor apraxia" and increased alpha-fetoprotein (AFP. Here, we report a novel Senataxin mutation in a Cypriot ARCA family. Methods We studied several Cypriot autosomal recessive cerebellar ataxia (ARCA families for linkage to known ARCA gene loci. We linked one family (909 to the SETX locus on chromosome 9q34 and screened the proband for mutations by direct sequencing. Results Sequence analysis revealed a novel c.5308_5311delGAGA mutation in exon 11 of the SETX gene. The mutation has not been detected in 204 control chromosomes from the Cypriot population, the remaining Cypriot ARCA families and 37 Cypriot sporadic cerebellar ataxia patients. Conclusion We identified a novel SETX homozygous c.5308_5311delGAGA mutation that co-segregates with ARCA with cerebellar atrophy and raised AFP.

  5. Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.

    Science.gov (United States)

    Aziz, Abdul; Raza, Syed I; Ali, Salman; Ahmad, Wasim

    2016-01-01

    Ellis-van Creveld syndrome (EVC) is a rare developmental disorder characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, teeth, oral and cardiac abnormalities. It is caused by biallelic mutations in the EVC or EVC2 gene, separated by 2.6 kb of genomic sequence on chromosome 4p16. In the present study, we have investigated two consanguineous families of Pakistani origin, segregating EVC in autosomal recessive manner. Linkage in the families was established to chromosome 4p16. Subsequently, sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 gene and 15 bp duplication in exon 14 of the EVC gene in the two families. This further expands the mutations in the EVC or EVC2 genes resulting in the EVC syndrome.

  6. Botulinum toxin treatment of pes cavovarus in a child suffering from autosomal recessive axonal Charcot-Marie-Tooth neuropathy (AR-CMT2).

    Science.gov (United States)

    Tiffreau, V; Allart, E; Dangleterre, C; Boutry, N; Petit, F; Cuisset, J M; Thevenon, A

    2015-06-01

    In a 12-year old girl suffering from autosomal recessive axonal Charcot-Marie-Tooth (CMT) neuropathy, pes cavovarus was treated with botulinum toxin injection in the tibialis posterior. The patient underwent a clinical evaluation, video analysis of spatiotemporal gait parameters and dynamic foot plantar pressure assessment before treatment and then two weeks, three months and six months thereafter. The video gait analysis revealed a decrease in varus during the swing phase of gait. The dynamic foot plantar pressure decreased by 50% in the excessive pressure at the side of the foot six months after the injection (maximal pressure=42.6N/cm2 before treatment and 18.9 N/cm2 after 6 month). Botulinum toxin injection appears to be an efficacious means of correcting pes cavovarus in CMT disease. A larger-scale clinical trial is now required to evaluate the putative longer-term preventive effect of this treatment on the pes cavus deformity. PMID:24980632

  7. Autosomal Recessive Chronic Granulomatous Disease, IgA Deficiency and Refractory Autoimmune Thrombocytopenia Responding to Anti-CD20 Monoclonal Antibody

    Directory of Open Access Journals (Sweden)

    Shahin Shamsian Bibi

    2008-09-01

    Full Text Available Immunodeficiency and autoimmune disease may occur concomitantly in the same individual. Some of the immunodeficiency syndromes, especially humoral defects are associated with autoimmune disorders. Hematological manifestations such as thrombocytopenia and hemolytic anemia are the most common presentations. Persistent antigen stimulation due to an inherent defect in the ability of the immune system to eradicate pathogens is the primary cause leading to autoimmunity in patients with primary immunodeficiency states.We describe a 10 year old Iranian girl with chronic granulomatous disease -the autosomal recessive type with mutation of NCF1 gene P47- associated with selective IgA deficiency, refractory immune thrombocytopenia that showed an excellent response to Rituximab (Anti-CD20 monoclonal antibody.Patients with primary immunodeficiencies may have variable autoimmune manifestations. So for early detection and appropriate treatment, autoimmune diseases should always be suspected in such patients.

  8. A Missense Mutation in the LIM2 Gene Is Associated with Autosomal Recessive Presenile Cataract in an Inbred Iraqi Jewish Family

    Science.gov (United States)

    Pras, Eran; Levy-Nissenbaum, Etgar; Bakhan, Tangiz; Lahat, Hadas; Assia, Ehud; Geffen-Carmi, Noa; Frydman, Moshe; Goldman, Boleslaw; Pras, Elon

    2002-01-01

    In an inbred Iraqi Jewish family, we have studied three siblings with presenile cataract first noticed between the ages of 20 and 51 years and segregating in an autosomal recessive mode. Using microsatellite repeat markers in close proximity to 25 genes and loci previously associated with congenital cataracts in humans and mice, we identified five markers on chromosome 19q that cosegregated with the disease. Sequencing of LIM2, one of two candidate genes in this region, revealed a homozygous T→G change resulting in a phenylalanine-to-valine substitution at position 105 of the protein. To our knowledge, this constitutes the first report, in humans, of cataract formation associated with a mutation in LIM2. Studies of late-onset single-gene cataracts may provide insight into the pathogenesis of the more common age-related cataracts. PMID:11917274

  9. Clinical Application of Screening for GJB2 Mutations before Cochlear Implantation in a Heterogeneous Population with High Rate of Autosomal Recessive Nonsyndromic Hearing Loss

    Directory of Open Access Journals (Sweden)

    Masoud Motasaddi Zarandy

    2011-01-01

    Full Text Available Clinical application of mutation screening and its effect on the outcome of cochlear implantation is widely debated. We investigated the effect of mutations in GJB2 gene on the outcome of cochlear implantation in a population with a high rate of consanguineous marriage and autosomal recessive nonsyndromic hearing loss. Two hundred and one children with profound prelingual sensorineural hearing loss were included. Forty-six patients had 35delG in GJB2. Speech awareness thresholds (SATs and speech recognition thresholds (SRTs improved following implantation, but there was no difference in performance between patients with GJB2-related deafness versus control (all >0.10. Both groups had produced their first comprehensible words within the same period of time following implantation (2.27 months in GJB2-related deaf versus 2.62 months in controls, =0.22. Although our findings demonstrate the need to uncover unidentified genetic causes of hereditary deafness, they do not support the current policy for genetic screening before cochlear implantation, nor prove a prognostic value.

  10. Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.

    Science.gov (United States)

    Delmaghani, Sedigheh; Aghaie, Asadollah; Bouyacoub, Yosra; El Hachmi, Hala; Bonnet, Crystel; Riahi, Zied; Chardenoux, Sebastien; Perfettini, Isabelle; Hardelin, Jean-Pierre; Houmeida, Ahmed; Herbomel, Philippe; Petit, Christine

    2016-06-01

    By genetic linkage analysis in a large consanguineous Iranian family with eleven individuals affected by severe to profound congenital deafness, we were able to define a 2.8 Mb critical interval (at chromosome 1p21.2-1p21.1) for an autosomal-recessive nonsyndromic deafness locus (DFNB). Whole-exome sequencing allowed us to identify a CDC14A biallelic nonsense mutation, c.1126C>T (p.Arg376(∗)), which was present in the eight clinically affected individuals still alive. Subsequent screening of 115 unrelated individuals affected by severe or profound congenital deafness of unknown genetic cause led us to identify another CDC14A biallelic nonsense mutation, c.1015C>T (p.Arg339(∗)), in an individual originating from Mauritania. CDC14A encodes a protein tyrosine phosphatase. Immunofluorescence analysis of the protein distribution in the mouse inner ear showed a strong labeling of the hair cells' kinocilia. By using a morpholino strategy to knockdown cdc14a in zebrafish larvae, we found that the length of the kinocilia was reduced in inner-ear hair cells. Therefore, deafness caused by loss-of-function mutations in CDC14A probably arises from a morphogenetic defect of the auditory sensory cells' hair bundles, whose differentiation critically depends on the proper growth of their kinocilium.

  11. A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.

    Science.gov (United States)

    Hassan, Muhammad Jawad; Santos, Regie Lyn P; Rafiq, Muhammad Arshad; Chahrour, Maria H; Pham, Thanh L; Wajid, Muhammad; Hijab, Nadine; Wambangco, Michael; Lee, Kwanghyuk; Ansar, Muhammad; Yan, Kai; Ahmad, Wasim; Leal, Suzanne M

    2006-01-01

    Hereditary hearing impairment (HI) displays extensive genetic heterogeneity. Autosomal recessive (AR) forms of prelingual HI account for approximately 75% of cases with a genetic etiology. A novel AR non-syndromic HI locus (DFNB47) was mapped to chromosome 2p25.1-p24.3, in two distantly related Pakistani kindreds. Genome scan and fine mapping were carried out using microsatellite markers. Multipoint linkage analysis resulted in a maximum LOD score of 4.7 at markers D2S1400 and D2S262. The three-unit support interval was bounded by D2S330 and D2S131. The region of homozygosity was found within the three-unit support interval and flanked by markers D2S2952 and D2S131, which corresponds to 13.2 cM according to the Rutgers combined linkage-physical map. This region contains 5.3 Mb according to the sequence-based physical map. Three candidate genes, KCNF1, ID2 and ATP6V1C2 were sequenced, and were found to be negative for functional sequence variants. PMID:16261342

  12. Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.

    Science.gov (United States)

    Mallaret, Martial; Renaud, Mathilde; Redin, Claire; Drouot, Nathalie; Muller, Jean; Severac, Francois; Mandel, Jean Louis; Hamza, Wahiba; Benhassine, Traki; Ali-Pacha, Lamia; Tazir, Meriem; Durr, Alexandra; Monin, Marie-Lorraine; Mignot, Cyril; Charles, Perrine; Van Maldergem, Lionel; Chamard, Ludivine; Thauvin-Robinet, Christel; Laugel, Vincent; Burglen, Lydie; Calvas, Patrick; Fleury, Marie-Céline; Tranchant, Christine; Anheim, Mathieu; Koenig, Michel

    2016-07-01

    Establishing a molecular diagnosis of autosomal recessive cerebellar ataxias (ARCA) is challenging due to phenotype and genotype heterogeneity. We report the validation of a previously published clinical practice-based algorithm to diagnose ARCA. Two assessors performed a blind analysis to determine the most probable mutated gene based on comprehensive clinical and paraclinical data, without knowing the molecular diagnosis of 23 patients diagnosed by targeted capture of 57 ataxia genes and high-throughput sequencing coming from a 145 patients series. The correct gene was predicted in 61 and 78 % of the cases by the two assessors, respectively. There was a high inter-rater agreement [K = 0.85 (0.55-0.98) p < 0.001] confirming the algorithm's reproducibility. Phenotyping patients with proper clinical examination, imaging, biochemical investigations and nerve conduction studies remain crucial for the guidance of molecular analysis and to interpret next generation sequencing results. The proposed algorithm should be helpful for diagnosing ARCA in clinical practice. PMID:27142713

  13. A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

    Science.gov (United States)

    Bicknell, Louise S; Pitt, James; Aftimos, Salim; Ramadas, Ram; Maw, Marion A; Robertson, Stephen P

    2008-10-01

    There are several rare syndromes combining wrinkled, redundant skin and neurological abnormalities. Although phenotypic overlap between conditions has suggested that some might be allelic to one another, the aetiology for many of them remains unknown. A consanguineous New Zealand Maori family has been characterised that segregates an autosomal recessive connective tissue disorder (joint dislocations, lax skin) associated with neurological abnormalities (severe global developmental delay, choreoathetosis) without metabolic abnormalities in four affected children. A genome-screen performed under a hypothesis of homozygosity by descent for an ancestral mutation, identified a locus at 10q23 (Z = 3.63). One gene within the candidate interval, ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), was considered a plausible disease gene since a missense mutation had previously been shown to cause progressive neurodegeneration, cataracts, skin laxity, joint dislocations and metabolic derangement in a consanguineous Algerian family. A missense mutation, 2350C>T, was identified in ALDH18A1, which predicts the substitution H784Y. H784 is invariant across all phyla and lies within a previously unrecognised, conserved C-terminal motif in P5CS. In an in vivo assay of flux through this metabolic pathway using dermal fibroblasts obtained from an affected individual, proline and ornithine biosynthetic activity of P5CS was not affected by the H784Y substitution. These data suggest that P5CS may possess additional uncharacterised functions that affect connective tissue and central nervous system function.

  14. Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.

    Science.gov (United States)

    Delmaghani, Sedigheh; Aghaie, Asadollah; Bouyacoub, Yosra; El Hachmi, Hala; Bonnet, Crystel; Riahi, Zied; Chardenoux, Sebastien; Perfettini, Isabelle; Hardelin, Jean-Pierre; Houmeida, Ahmed; Herbomel, Philippe; Petit, Christine

    2016-06-01

    By genetic linkage analysis in a large consanguineous Iranian family with eleven individuals affected by severe to profound congenital deafness, we were able to define a 2.8 Mb critical interval (at chromosome 1p21.2-1p21.1) for an autosomal-recessive nonsyndromic deafness locus (DFNB). Whole-exome sequencing allowed us to identify a CDC14A biallelic nonsense mutation, c.1126C>T (p.Arg376(∗)), which was present in the eight clinically affected individuals still alive. Subsequent screening of 115 unrelated individuals affected by severe or profound congenital deafness of unknown genetic cause led us to identify another CDC14A biallelic nonsense mutation, c.1015C>T (p.Arg339(∗)), in an individual originating from Mauritania. CDC14A encodes a protein tyrosine phosphatase. Immunofluorescence analysis of the protein distribution in the mouse inner ear showed a strong labeling of the hair cells' kinocilia. By using a morpholino strategy to knockdown cdc14a in zebrafish larvae, we found that the length of the kinocilia was reduced in inner-ear hair cells. Therefore, deafness caused by loss-of-function mutations in CDC14A probably arises from a morphogenetic defect of the auditory sensory cells' hair bundles, whose differentiation critically depends on the proper growth of their kinocilium. PMID:27259055

  15. Megalocornea-mental retardation syndrome: report of a new case.

    OpenAIRE

    Barisić, I; Ligutić, I; Zergollern, L

    1996-01-01

    Megalocornea-mental retardation syndrome (MMR) is a rare autosomal recessive disorder presenting with megalocornea, mental and motor retardation, hypotonia, seizures, short stature, and characteristic dysmorphic traits (MIM 249310). We present a new case in order to delineate with more accuracy the typical phenotype.

  16. Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.

    Directory of Open Access Journals (Sweden)

    Doroteya Raykova

    Full Text Available Pure hair and nail ectodermal dysplasia (PHNED comprises a heterogeneous group of rare heritable disorders characterized by brittle hair, hypotrichosis, onychodystrophy and micronychia. Autosomal recessive (AR PHNED has previously been associated with mutations in either KRT85 or HOXC13 on chromosome 12p11.1-q14.3. We investigated a consanguineous Pakistani family with AR PHNED linked to the keratin gene cluster on 12p11.1 but without detectable mutations in KRT85 and HOXC13. Whole exome sequencing of affected individuals revealed homozygosity for a rare c.821T>C variant (p.Phe274Ser in the KRT74 gene that segregates AR PHNED in the family. The transition alters the highly conserved Phe274 residue in the coil 1B domain required for long-range dimerization of keratins, suggesting that the mutation compromises the stability of intermediate filaments. Immunohistochemical (IHC analyses confirmed a strong keratin-74 expression in the nail matrix, the nail bed and the hyponychium of mouse distal digits, as well as in normal human hair follicles. Furthermore, hair follicles and epidermis of an affected family member stained negative for Keratin-74 suggesting a loss of function mechanism mediated by the Phe274Ser substitution. Our observations show for the first time that homozygosity for a KRT74 missense variant may be associated with AR PHNED. Heterozygous KRT74 mutations have previously been associated with autosomal dominant woolly hair/hypotrichosis simplex (ADWH. Thus, our findings expand the phenotypic spectrum associated with KRT74 mutations and imply that a subtype of AR PHNED is allelic with ADWH.

  17. Initial evaluation of hepatic T1 relaxation time as an imaging marker of liver disease associated with autosomal recessive polycystic kidney disease (ARPKD).

    Science.gov (United States)

    Gao, Ying; Erokwu, Bernadette O; DeSantis, David A; Croniger, Colleen M; Schur, Rebecca M; Lu, Lan; Mariappuram, Jose; Dell, Katherine M; Flask, Chris A

    2016-01-01

    Autosomal recessive polycystic kidney disease (ARPKD) is a potentially lethal multi-organ disease affecting both the kidneys and the liver. Unfortunately, there are currently no non-invasive methods to monitor liver disease progression in ARPKD patients, limiting the study of potential therapeutic interventions. Herein, we perform an initial investigation of T1 relaxation time as a potential imaging biomarker to quantitatively assess the two primary pathologic hallmarks of ARPKD liver disease: biliary dilatation and periportal fibrosis in the PCK rat model of ARPKD. T1 relaxation time results were obtained for five PCK rats at 3 months of age using a Look-Locker acquisition on a Bruker BioSpec 7.0 T MRI scanner. Six three-month-old Sprague-Dawley (SD) rats were also scanned as controls. All animals were euthanized after the three-month scans for histological and biochemical assessments of bile duct dilatation and hepatic fibrosis for comparison. PCK rats exhibited significantly increased liver T1 values (mean ± standard deviation = 935 ± 39 ms) compared with age-matched SD control rats (847 ± 26 ms, p = 0.01). One PCK rat exhibited severe cholangitis (mean T1  = 1413 ms), which occurs periodically in ARPKD patients. The observed increase in the in vivo liver T1 relaxation time correlated significantly with three histological and biochemical indicators of biliary dilatation and fibrosis: bile duct area percent (R = 0.85, p = 0.002), periportal fibrosis area percent (R = 0.82, p = 0.004), and hydroxyproline content (R = 0.76, p = 0.01). These results suggest that hepatic T1 relaxation time may provide a sensitive and non-invasive imaging biomarker to monitor ARPKD liver disease.

  18. Al-Aqeel Sewairi Syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene

    International Nuclear Information System (INIS)

    We report a distinctive autosomal recessive multicentric osteolysis in Saudi Arabian families with distal arthropathy of the metacarpal, metatarsal and interphalangeal joints, with ultimate progression to the proximal joints with decreased range of movements and deformities with ankylosis and generalized osteopenia. In addition, they had large, painful to touch palmar and plantar pads. Hirsutism and mild dysmorphic facial features including proptosis, a narrow nasal bridge, bulbous nose and micrognathia. Using a genome-wide search for microsatellite markers from 11 members of the family from the Armed Forces Hospital and King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia, localized the disease gene to chromosome 16q12-21. Haplotype analysis with additional markers narrowed the critical region to 1.2cM and identified the matrix metalloproteinase 2 (MMP-2), (gelatinase A, collagenase type IV, EC 3.4, 24,24) gene as a disease candidate at Mount Sinai School of Medicine, New York, United States of America in April 2000. Some affected individuals were homoallelic for a nonsense mutation (TCA>TAA) in codon 244 of exon 5, predicting the replacement of a tyrosine residue by a stop codon in the first fibronectin type II domain (Y244X). Other affected members had a missense mutation in exon 2 arginine 101-histidine (R101H) leading to no MMP-2 enzyme activity in serum or fibroblast or both of affected individuals. In other affected members, a non-pathogenic homoallelic GT transversion resulted in the substitution of an aspartate with a tyrosine residue in codon 210 of exon 4 (D210Y). The MMP-2-null mouse has no developmental defects, but are small, which may reflect genetic redundancy. The discovery that deficiency of this well-characterized gelatinase/collagenase results in an inherited form of an osteolytic and arthritic disorder provides an invaluable insights for the understanding of osteolysis and arthritis and is the first genetic

  19. Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non‑syndromic hearing loss.

    Science.gov (United States)

    Jiang, Hua; Chen, Jia; Shan, Xin-Ji; Li, Ying; He, Jian-Guo; Yang, Bei-Bei

    2014-07-01

    The frequency and distribution of genetic mutations that cause deafness differ significantly according to ethnic group and region. Zhejiang is a province in the southeast of China, with an exceptional racial composition of the population caused by mass migration in ancient China. The purpose of the present study was to investigate the prevalence and spectrum of gap junction‑β2 (GJB2), solute carrier family 26 (anion exchanger) member 4 (SLC26A4) and GJB3 mutations in patients with autosomal recessive non‑syndromic hearing loss (ARNHL) in this area. A total of 176 unrelated pediatric patients with ARNHL were enrolled in the study. A genomic DNA sample was extracted from the peripheral blood. Polymerase chain reaction was employed, and the products were sequenced to screen for mutations in GJB2. In addition, a SNaPshot sequencing method was utilized to detect four hotspot mutations in SLC26A4 (IVS7‑2A>G and c.2168A>G) and GJB3 (c.538C>T and c.547G>A). All patients were subjected to a temporal bone computed tomography scan to identify enlarged vestibular aqueducts (EVA). In total, 14 different mutations, including two new mutations (p.W44L and p.D66N) of GJB2, were detected. The most common pathogenic mutation of GJB2 was c.235delC (15.1%), followed by c.176_191del16 (1.7%), c.299_300delAT (1.7%), c.508_511dup (0.85%) and c.35delG (0.28%) of the total alleles. Mutation analysis of SLC26A4 demonstrated that 13.6% (24/176) of patients carried at least one mutant allele. The patients with EVA (84.2%) had SLC26A4 mutations, and 31% had homozygous mutations. Only one patient carried a heterozygous mutation of GJB3 (c.538C>T). Compared with the other regions of China, in the present population cohort, the prevalence and spectrum of mutations in GJB2 was unique, and in patients with EVA the frequency of a homozygous mutation in SLC26A4 was significantly lower. These findings may be of benefit in genetic counseling and risk assessment for families from this area of

  20. MRI assessment of fetal autosomal recessive polycystic kidney disease%常染色体隐性遗传性多囊肾病胎儿的MRI表现

    Institute of Scientific and Technical Information of China (English)

    董素贞; 朱铭; 钟玉敏; 张弘; 潘慧红

    2014-01-01

    目的 探讨MRI对常染色体隐性遗传性多囊肾病(ARPKD)胎儿的诊断价值.方法 回顾性分析2005年7月至2013年12月间产前超声检查提示异常,然后行MR检查,并经引产后尸解或病理证实的ARPKD胎儿16例.MR扫描序列主要采用稳态自由进动(SSFP)序列、单次激发快速自旋回波(SSTSE)序列和快速加权序列T1WI.将产前MRI、超声表现与引产后尸解或病理结果进行对照分析.结果 16例ARPKD患儿均表现为双侧肾脏体积明显增大,SSTSE序列肾髓质弥漫性高信号小囊肿.11例合并羊水过少,11例合并双肺发育不良,6例合并肝纤维化.11例双肺发育不良和6例肝脏轻度纤维化超声均未提示,肾脏病变超声误诊1例,MRI诊断均正确.结论 MRI诊断胎儿ARPKD具有明显优势,不受羊水量的影响,能准确评价肾脏及肺异常.%Objective To explore the value of MRI on fetal autosomal recessive polycystic kidney disease (ARPKD).Methods Sixteen pregnant women,aged from 28 to 38 years (average 30 years) and with gestation age from 22 to 36 weeks (average 25 weeks) underwent MR scanning with a 1.5 T MR unit within 24 to 48 hours after ultrasound examinations.The imaging sequences included steady-state free-precession (SSFP) sequence,single-shot turbo spin echo (SSTSE) sequence and T1-weighted fast imaging sequence.Prenatal US and MR imaging findings were compared with autopsy or pathological results.Results A total of 16 cases of ARPKD showed bilateral markedly enlarged kidneys and diffuse high signal small cysts in renal medulla on SSTSE sequence.Among the 16 cases,11 cases were with oligohydramnios,1 1 cases were with pulmonary hypoplasia,and 6 cases were with hepatic fibrosis.Eleven cases of pulmonary hypoplasia and 6 cases of hepatic fibrosis were all missed by US.For the diagnosis of the renal anomalies,US missed one case.MRI diagnosis was correct in all these cases.Conclusions MRI shows great advantages on the diagnosis of fetal ARPKD

  1. Inhibitory action of chlorophyllin of autosome recessive lethals induced by irradiation; Accion inhibidora de la clorofilina de letales recesivos autosonicos inducidos por irradiacion

    Energy Technology Data Exchange (ETDEWEB)

    Salceda, V.M.; Pimentel, P.A.E.; Cruces, M.P. [ININ, 52045 Ocoyoacac, Estado de Mexico (Mexico)]. e-mail: vmss@nuclear.inin.mx

    2006-07-01

    chlorophyllin on the damage caused by the radiation, it was into accothe presence of lethal and semi lethals autosomal. One observes this way that even without the use of the radiation the semi lethals frequency is diminished when the chlorophyllin is applied, in this case the decrease was significant and although there was decrease in the case of the irradiated group this it was not significant; in the case of the lethal ones it happened the opposite it was not significant in radiation absence on the contrary elevate the frequency of this type of genes, however, before the radiation and with pre-treatment with chlorophyllin this it reduced the frequency of autosomal recessive lethals significantly. This is important because in the case of bound recessive lethals recessive to the sex this doesn't happen. (Author)

  2. Three sibs with phalangeal anomalies, microcephaly, severe mental retardation, and neurological abnormalities.

    OpenAIRE

    Woods, C. G.; Crouchman, M; Huson, S M

    1992-01-01

    This paper describes three children of a Pakistani first cousin marriage with a distinctive, non-progressive disorder characterised by variable phalangeal anomalies, microcephaly, pre- and postnatal growth retardation, poor vision, dystonic movements, a characteristic face, and severe mental retardation. This combination of features seems to be distinct and to represent a new autosomal recessive syndrome.

  3. Familial occurrence of a syndrome with branchial dysplasia, mental deficiency, club feet, and inguinal herniae

    OpenAIRE

    Lambert, J. C.; Ayraud, N; Martin, J.; Mariani, R.; Ferrari, M; Donzeau,M.

    1982-01-01

    A distinct probably autosomal recessive disorder was ascertained in a boy and his sister. The common features were signs of abnormal development of the first and second branchial arches, mental deficiency, club feet, and inguinal herniae. In addition the boy had hypospadias and the girl a ventricular septal defect.

  4. Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.

    Science.gov (United States)

    Dasouki, Majed; Okonkwo, Kingsley C; Ray, Abhishek; Folmsbeel, Caspian K; Gozales, Diana; Keles, Sevgi; Puck, Jennifer M; Chatila, Talal

    2011-11-01

    Loss of function of DOCK8 is the major cause of autosomal recessive hyper IgE syndrome, a primary immunodeficiency with adaptive and innate immune dysfunction. Patients affected with ARHIES have atopic dermatitis and recurrent, potentially life-threatening viral and bacterial infections. Three consanguineous Pakistani siblings presented with severe atopic dermatitis and superinfection. Direct sequencing of DOCK8 in all three affected siblings demonstrated homozygosity for a deleterious, novel exon 14 frame shift mutation. Current newborn screening for severe combined immunodeficiency syndrome (SCID) and related T cell disorders relies on the quantitation of T Cell Receptor Excision Cells (TRECs) in dried blood spots (DBS). Significantly, both older affected siblings had undetectable TRECs, and TREC copy number was reduced in the youngest sibling. These findings suggest that AR-HIES may be detected by TREC newborn screening, and this diagnosis should be considered in the evaluation of newborns with abnormal TRECs who do not have typical SCID. PMID:21763205

  5. 家族性高胆固醇血症亚型--隐性遗传性高胆固醇血症研究进展%The subtype of familial hypercholesterolemia--the progression of autosomal recessive hypercholesterolemia

    Institute of Scientific and Technical Information of China (English)

    马斐斐; 王绿娅

    2006-01-01

    家族性高胆固醇血症(familial hypercholesterolemia,FH;MIM 143890)是一种常染色体显性遗传性疾病,是脂质代谢疾病中最严重的一种,导致早期发生较为严重的冠心病(coronary artery disease,CAD).FH存在一些亚型,其中常染色体隐性遗传性高胆固醇血症(autosomal recessive hypercholesterolemia,ARH;MIM 603813)纯合患者,可表现为胆固醇水平异常升高、皮肤肌腱黄色瘤和早发的冠心病,临床表现与FH极为相似.

  6. Confirmation of the 2p locus for the mild autosomal recessive lim-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region

    Energy Technology Data Exchange (ETDEWEB)

    Bashir, R.; Iughetti, P.; Strachan, T. [Univ. of Newcastle upon Tyne (United Kingdom)] [and others

    1995-05-01

    The mild autosomal recessive limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of muscle diseases. The first gene to be mapped and associated with this phenotype was a locus on 15q geographic isolate. These results have been confirmed in other populations, but it was shown that there is genetic heterogeneity for this form of LGMD. Recently, a second locus has been mapped to chromosome 2p. The confirmation of the mapping of this second locus in LGMD families from different populations is of utmost importance for the positional cloning of this gene (HGMW-approved symbol LGMD2B). In this publication, haplotypes generated from five chromosome 2 markers from all of the known large families linked to chromosome 2p are reported together with the recombinants that show the current most likely location of the LGMD 2B gene. 9 refs., 2 figs., 1 tab.

  7. Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome?

    OpenAIRE

    Zlotogora, J; Zilberman, Y.; Tenenbaum, A; Wexler, M R

    1987-01-01

    Two sibs with a syndrome including cleft lip and palate, sparse scalp hair, malformed protruding ears, and partial syndactyly of the fingers and toes are reported. The older child also has mental retardation and pili torti. This syndrome is most probably inherited as an autosomal recessive disorder.

  8. Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2 -> qter)

    NARCIS (Netherlands)

    Rump, P.; Dijkhuizen, T.; Sikkema-Raddatz, B.; Lemmink, H. H.; Vos, Y. J.; Verheij, J. B. G. M.; van Ravenswaaij, C. M. A.

    2008-01-01

    We reevaluated a unique family with two sibs who had a presumed autosomal recessively inherited syndrome characterized by mental retardation, microcephaly, short stature and absent phalanges. This family was originally described by Drayer et al. in 1977. Using modern molecular techniques, we demonst

  9. 早发型帕金森病DJ-1基因突变的分析%THE MUTATIONAL ANALYSIS OF DJ-1 GENE IN PATIENTS WITH AUTOSOMAL RECESSIVE EARLY-ONSET PARKINSON'S DISEASE

    Institute of Scientific and Technical Information of China (English)

    袁志刚; 罗曙光; 窦霄云; 华荣; 谭建强; 胡启平; 马军; 方玲; 舒伟

    2009-01-01

    目的:分析广西地区早发型帕金森病(Parkinsion's disease,PD)患者及常染色体隐性遗传早发型帕金森病(autosomal recessive early-onset Parkinsion's disease,AREP)家系患者DJ-1基因外显子的突变特点,探讨DJ-1基因外显子的突变与广西地区PD关系.方法:应用聚合酶链式反应(PCR)、单链构象多态性(SSCP)及DNA测序等技术查找DJ-1基因缺失突变及点突变.结果:45例早发型散发性PD患者和12例分别来自5个常染色体隐性遗传早发型PD家系的DJ-1基因的2~7号外显子全部被成功扩增,未见大片段缺失.产物经SSCP方法和测序检测,未见点突变与缺失突变.结论:DJ-1基因的突变不是广西地区早发型PD患者的发病的危险因素.

  10. Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

    OpenAIRE

    Hirvasniemi, A; Lang, H; Lehesjoki, A E; Leisti, J

    1994-01-01

    A new autosomal recessively inherited disease of the central nervous system involving childhood epilepsy and mental deterioration is described. Twenty three patients (11 males and 12 females) belonging to 11 families from northern Finland have been identified. A common ancestor has been found for nine families. The mean age of onset of epilepsy was 6.7 years (range 5-10 years) and the epilepsy was characterised by generalised tonic-clonic seizures increasing in frequency up to puberty. One th...

  11. Mutation analysis of genes associated with autosomal recessive in early-onset parkinsonism%常染色体隐性遗传早发性帕金森综合征致病基因的突变分析

    Institute of Scientific and Technical Information of China (English)

    严新翔; 曹立; 沈璐; 江泓; 赵国华; 唐北沙; 张玉虎; 郭纪锋; 李静; 夏昆; 蔡芳; 潘乾; 龙志高; 陈涛

    2005-01-01

    目的研究常染色体隐性遗传早发性帕金森综合征(autosomal recessive early-onset parkinsonism,AREP)parkin、PINK1及DJ-1基因的突变.方法应用聚合酶链反应、DNA直接测序和限制性核酸内切酶酶切等技术对15个AREP家系进行parkin、PINK1及DJ-1基因的突变分析.结果在3个家系中发现parkin基因3个杂合突变,分别为202-203delAG和新发现的1069-1074delGTGTCC与T1422C突变.在2个家系中发现2个新的PINK1基因突变,分别为C938T及C1474T.未见DJ-1基因突变.3个PARK2家系平均发病年龄(25.2±5.7)岁,临床上肌张力障碍、姿势不稳、腱反射活跃、症状晨轻暮重常见,对多巴制剂反应好,左旋多巴诱导的运动障碍常见;2个PARK6家系平均发病年龄(25.8±10.0)岁,临床特征与PARK2相似,但未见肌张力障碍、姿势不稳及左旋多巴诱导的运动障碍.结论 parkin、PINK1基因突变是AREP的常见病因;DJ-1在我国AREP中可能罕见;PARK2和PARK6具有相似临床表现,但均具有临床异质性.

  12. 常染色体隐性遗传多囊肾病 PKHD1基因检测%Detection of PKHD1 gene in autosomal recessive polycystic kidney disease

    Institute of Scientific and Technical Information of China (English)

    宋红霞; 孙春梅; 韩蓁; 李媛; 周熙惠

    2013-01-01

    Objective To identify and analyze mutation in polycystic kidney and hepatic disease 1 ( PKHD1 ) in one abortion fetus of autosomal recessive polycystic kidney disease ( ARPKD).Methods Genome DNA was extracted from peripheral venous blood sampled from the fetus and his parents .PCR amplification and DNA direct sequencing and other technical means were adopted to perform gene mutation analysis of PKHD1.Results The following DNA sequence variations were found , ISV7+51G>T in intron 7, c.1587T>C(p. N529N) in exon 17, c.3785C>T(p.A1262V) in exon 32, which caused amino acid substitution from Alanine to Valine .Conclusion The variation of PKHD1 sequence may be involved in the pathogenesis of ARPKD .The sequence analysis of PKHD1 gene can be used as an effective method for prenatal diagnosis .%目的对1例引产的常染色体隐性遗传性多囊肾病胎儿的多囊肾/多囊肝病变1基因( PKHD1)进行基因突变鉴定和结果分析。方法采集引产胎儿及其父母外周静脉血,分别提取基因组DNA,应用PCR扩增、DNA直接测序等技术手段对该胎儿及其父母进行PKHD1基因突变分析。结果胎儿PKHD1基因出现几种序列变异:PKHD1基因第7号内含子发生ISV7+51G>T变异;第17号外显子发生c.1587T>C(p.N529N)变异;第32号外显子发生c.3785C>T(p.A1262V)变异,导致编码PKHD1蛋白多肽链第1262号氨基酸由丙氨酸变为缬氨酸。结论 PKHD1基因序列变异可能是常染色体隐性遗传性多囊肾病的病因,PKHD1基因检测可作为产前筛查的有效诊断手段。

  13. Low doses of paraquat and polyphenols prolong life span and locomotor activity in knock-down parkin Drosophila melanogaster exposed to oxidative stress stimuli: implication in autosomal recessive juvenile parkinsonism.

    Science.gov (United States)

    Bonilla-Ramirez, Leonardo; Jimenez-Del-Rio, Marlene; Velez-Pardo, Carlos

    2013-01-10

    Previous studies have shown that polyphenols might be potent neuroprotective agents in Drosophila melanogaster wild type Canton-S acutely or chronically treated with paraquat (PQ), a selective toxin for elimination of dopaminergic (DAergic) neurons by oxidative stress (OS), as model of Parkinson's disease (PD). This study reports for the first time that knock-down (K-D) parkin Drosophila melanogaster (TH-GAL4; UAS-RNAi-parkin) chronically exposed to PQ (0.1-0.25 mM), FeSO(4) (Fe, 0.1mM), deferoxamine (DFO, 0.01 mM) alone or (0.1mM) PQ in combination with polyphenols propyl gallate (PG, 0.1mM) and epigallocathecin gallate (EGCG, 0.1, 0.5mM) showed significantly higher life span and locomotor activity than untreated K-D flies or treated with (1, 5, 20mM) PQ alone. Whilst gallic acid (GA, 0.1, 0.5mM) alone or in the presence of PQ provoked no effect on K-D flies, epicathecin (EC, 0.5mM) only showed a positive effect on prolonging K-D flies' life span. It is shown that PG (and EGCG) protected protocerebral posterolateral 1 (PPL1) DAergic neurons against PQ. Interestingly, the protective effect of low PQ concentrations, DFO and iron might be explained by a phenomenon known as "hormesis." However, pre-fed K-D flies with (0.1mM) PQ for 7 days and then exposed to (0.25 mM) for additional 8 days affect neither survival nor climbing of K-D Drosophila compared to flies treated with (0.25 mM) PQ alone. Remarkably, K-D flies treated with 0.1mM PQ (7 days) and then with (0.25 mM) PQ plus PG (8 days) behaved almost as flies treated with (0.25 mM) PQ. Taken these data suggest that antioxidant supplements that synergistically act with low pro-oxidant stimuli to prolong and increase locomotor activity become inefficient once a threshold of OS has been reached in K-D flies. Our present findings support the notion that genetically altered Drosophila melanogaster as suitable model to study genetic and environmental factors as causal and/or modulators in the development of autosomal

  14. Aspectos clínicos da doença renal policística autossômica recessiva DRPAR Clinical aspects of autosomal recessive polycystic kidney disease

    Directory of Open Access Journals (Sweden)

    Natasha Favoretto Dias

    2010-09-01

    Full Text Available INTRODUÇÃO: A Doença Renal Policística Autossômica Recessiva (DRPAR é uma causa importante de morbidade e mortalidade pediátricas, com um espectro variável de manifestações clínicas. MÉTODOS: A apresentação e evolução clínica de 25 pacientes (Pts foram analisadas através da revisão de prontuários, aplicando-se os formulários propostos por Guay-Woodford et al. As morbidades associadas à doença foram avaliadas quanto à frequência e à idade de manifestação. RESULTADOS: A idade média de diagnóstico foi de 61,45 meses (0 a 336,5 meses, com distribuição similar entre os sexos (52% dos pts do sexo feminino. Houve histórico familiar da doença em 20% dos casos (5/25, com dois casos de consanguinidade. Na análise inicial, diagnosticou-se hipertensão arterial (HAS em 56% dos Pts (14/25; doença renal crônica estágio > 2 (DRC > 2 em 24% (6/25; infecções do trato urinário (ITU em 40% (10/25 e hipertensão portal (HP em 32% dos casos (8/25. Das ultrassonografias abdominais iniciais, 80% demonstraram rins ecogênicos com cistos grosseiros e 64% detectaram fígado e vias biliares normais. Inibidores da ECA foram utilizados em 36% dos Pts, betabloqueadores em 20%, bloqueadores de canais de cálcio em 28% e diuréticos em 36% dos casos. Na análise final, após um tempo de acompanhamento médio de 152,2 meses (29,8 a 274,9 meses, HAS foi diagnosticada em 76% dos Pts, DRC > 2 em 44%, ITU em 52% e HP em 68%. CONCLUSÃO: As altas morbidade e mortalidade associadas à DRPAR justificam a construção de um banco de dados internacional, visando ao estabelecimento de um tratamento de suporte precoce.INTRODUCTION: Autosomal Recessive Polycystic Kidney Disease (ARPKD is an important pediatric cause of morbidity and mortality, with a variable clinical spectrum. METHODS: The clinical presentation and evolution of 25 patients (Pts were analyzed by clinical record review, according to the forms proposed by Guay-Woodford et al

  15. A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23

    Directory of Open Access Journals (Sweden)

    Fatih Bayrakli

    2014-01-01

    Full Text Available Background: Cerebellar hypoplasia (CH is a rare malformation caused by various etiologies, usually manifesting clinically as nonprogressive cerebellar ataxia with or without mental retardation. The molecular pathogenesis of the autosomal recessive cerebellar ataxias has a wide range of mechanisms. Differential diagnosis and categorization of the recessive cerebellar ataxias, however, need more specific, biochemical and genetic investigation. Methods: This study applied whole-genome linkage analysis to study a family with nonprogressive cerebellar ataxia and additional mental retardation, epilepsy, and facial dysmorphic features. Genotyping and linkage analysis was done using the GeneChip Mapping 250K NspI Array (Affymetrix Inc., Santa Clara, Calif., USA for genome-wide linkage analysis of the genotyping data from the affected children and their parents. Results: Allegro software version 1.2 was used for multipoint linkage analysis. We assumed an autosomal recessive inheritance pattern and assigned a penetrance of 0.999. Single-nucleotide polymorphism allele frequencies were estimated from the Affymetrix data of the Caucasian family studied. Using these parameters, a theoretical maximum logarithm of the odds score of 2.69 was identified at chromosome 20p11.21-q11.23. Conclusions: This chromosomal locus is unprecedented in autosomal recessive and nonprogressive ataxia disorder. Further investigation might reveal a new causative gene generating the CH phenotype.

  16. Evaluation of Inheritance Pattern in Mentally Retarded Children

    Directory of Open Access Journals (Sweden)

    F Behnaz

    2011-07-01

    Full Text Available Introduction: Mental retardation is one of the most important problems of general health. The purpose of this study was to evaluate inheritance pattern of mentally retarded patients in Yazd city. Methods: In a descriptive cross- sectional study, all medical records and pedigrees of 320 mentally retarded children whose parents had referred for genetic consultation to the Welfare center of Yazd city were reviewed. Results: Of the total, 62.8% of the parents had consanguineous marriage. Mean inbreeding coefficient of offsprings was 0.0713 in third degree related parents versus 0.0156 in non-related parents. Mental retardation was seen in 43.4% of first– degree relatives of children (6.6% of parents and 36.8% of siblings, respectively. Frequency of mental retardation did not differ significantly in both sexes. Pedigree showed inheritance pattern in 43.4% of patients (autosomal recessive, autosomal dominant and x-linked inheritance pattern were seen in 33.75%, 6.9% and 2.8%, respectively, while 37% of patients had no definite inheritance pattern. Abnormal karyotype were seen in 19.4% of patients, 28 of whom(8.75% of all patients had Down syndrome. The prevalence of autosomal recessive inheritance in patients with consanguineous marriages and non family marriages was 62.8 % and 10%, respectively (P=0. 002. Conclusion: Since multiple cases of mental retardation were seen in families and rate of consanguineous marriage was more in parents of mentally retarded children, genetic counseling in consanguinity marriages and families of mentally retarded children can prevent incidence of mental retardation in these families.

  17. Mutation analysis of DJ1 gene in patients with autosomal recessive early- onset Parkinsonism%常染色体隐性遗传性早发型帕金森综合征DJ1基因突变研究

    Institute of Scientific and Technical Information of China (English)

    郭纪锋; 严新翔; 曹立; 唐北沙; 张玉虎; 夏昆; 蔡芳; 潘乾; 沈璐; 江泓; 赵国华

    2005-01-01

    目的探讨常染色体隐性遗传性早发型帕金森综合征(autosomal recessive early-onset Parkinsonism,AR-EP)DJ1基因的突变特点.方法应用聚合酶链反应结合DNA直接序列分析方法,对11个常染色体隐性遗传性早发型帕金森综合征家系先证者的DJ1基因进行突变研究.结果本组AR-EP患者未发现DJ1基因的致病突变,在内含子区发现6个多态,分别为IVS1-15T→C、IVS4+30T→G、IVS4+45G→A、IVS4+46G→A、IVS5+31G→A和g.168-185del,其中3个(IVS1-15T→C、IVS4+45G→A、IVS4+46C→A)为新发现的多态.结论中国人常染色体隐性遗传性早发型帕金森综合征患者DJ1基因突变可能罕见.

  18. TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia%中国人常染色体隐性遗传性多巴反应性肌张力障碍TH基因突变分析

    Institute of Scientific and Technical Information of China (English)

    刘威; 唐北沙; 曹贵方; 陈涛; 李海燕

    2004-01-01

    目的研究中国人常染色体隐性遗传性(autosomal recessive,AR)多巴反应性肌张力障碍(dopa-responsive dystonia, DRD)患者酪氨酸羟化酶(tyrosine hydroxylase,TH)基因的突变特点.方法应用聚合酶链反应-单链构象多态性技术和DNA序列分析方法对5个AR-DRD家系的先证者和两例散发DRD患者进行TH基因突变分析. 结果 TH基因第1~2、5~11、13~14外显子的扩增产物未见异常电泳条带,DNA直接测序TH基因的第3、4、12外显子,结果未发现异常.结论 TH基因在中国人AR-DRD家系中突变率不高,提示我国AR-DRD患者具有遗传异质性,可能存在新的致病基因.

  19. 三个常染色体隐性遗传早发型帕金森病家系的PARKIN基因研究%A study on PARKIN gene in three pedigrees with autosomal recessive early-onset Parkinson's disease

    Institute of Scientific and Technical Information of China (English)

    金淼; 焦劲松; 顾卫红; 王康; 邹海强; 陈彪; 王国相

    2005-01-01

    目的探讨PARKIN基因与中国人常染色体隐性遗传早发型帕金森病(autosomal recessive early-onset Parkinson's disease, AREP)家系的关系.方法对3个AREP家系的6例患者和23位成员进行系统的临床检查并进行PARKIN基因PCR扩增,产物通过变性高压液相色谱(denaturing high-performance liquid chromatography, DHPLC)进行突变检测,阳性结果标本进行基因测序.结果所有研究对象的PARKIN基因外显子均扩增成功.DHPLC检测和基因测序发现一个家系中存在PARKIN基因杂合Gly284Arg突变,另一个家系中存在PARKIN基因Ser167Asn多态性,且患者均有环境毒物接触史.结论 PARKIN基因杂合Gly284Arg突变在环境因素的协同作用下可能导致发病.PARKIN基因Ser167Asn多态性是帕金森病的易感因素,汞中毒与其共同作用可能导致发病.

  20. Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed Espectro clínico da ataxia cerebelar de início precoce com reflexos mantidos: uma ataxia autossômica recessiva para não ser esquecida

    Directory of Open Access Journals (Sweden)

    José Luiz Pedroso

    2013-06-01

    Full Text Available Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper limb reflexes and knee jerks was described. This disorder is known as early onset cerebellar ataxia with retained tendon reflexes. In this article, we aimed to call attention for the diagnosis of early onset cerebellar ataxia with retained tendon reflexes as the second most common cause of autosomal recessive cerebellar ataxias, after Friedreich ataxia, and also to perform a clinical spectrum study of this syndrome. In this data, 12 patients from different families met all clinical features for early onset cerebellar ataxia with retained tendon reflexes. Dysarthria and cerebellar atrophy were the most common features in our sample. It is uncertain, however, whether early onset cerebellar ataxia with retained tendon reflexes is a homogeneous disease or a group of phenotypically similar syndromes represented by different genetic entities. Further molecular studies are required to provide definitive answers to the questions that remain regarding early onset cerebellar ataxia with retained tendon reflexes.As ataxias cerebelares autossômicas recessivas são um grupo heterogêneo de doenças neurológicas. Em 1981, foi descrita uma entidade neurológica incluindo ataxia cerebelar progressiva de início precoce, disartria, liberação piramidal e manutenção ou aumento dos reflexos tendíneos nos membros superiores e inferiores. Essa síndrome é conhecida como ataxia cerebelar de início precoce com reflexos mantidos. Neste artigo, o objetivo foi chamar a atenção para o diagnóstico de ataxia cerebelar de início precoce com reflexos mantidos como a segunda causa mais comum de ataxia cerebelar autossômica recessiva, após a ataxia de Friedreich, e também realizar um estudo do espectro cl

  1. DJ-1 gene rearrangement mutation in patients with autosomal recessive early-onset parkinsonism using real-time PCR%应用实时荧光定量PCR技术检测常染色体隐性遗传性早发型帕金森综合征的DJ-1基因外显子重排突变

    Institute of Scientific and Technical Information of China (English)

    张海南; 肖彬; 聂利珞; 郭纪锋; 王春喻; 王磊; 何丹; 严新翔; 唐北沙

    2010-01-01

    目的:建立应用实时荧光定量PCR技术(real-time polymerase chain reaction,real-time PCR)检测DJ-1基因外显子重排突变的技术平台,并应用该技术对常染色体隐性遗传性早发型帕金森综合征(autosomal recessive early-onset Parkinsonism, AREP)DJ-1基因进行外显子重排突变分析.方法:应用实时荧光定量PCR分析方法,对22个AREP家系先证者和30个正常对照的DJ-1基因进行外显子重排突变分析.结果:本研究中获得了扩增效率和特异性均满意的DJ-1基因各编码外显子实时荧光定量PCR反应条件及各外显子引物;本组AREP患者未发现DJ-1基因的外显子重排突变.结论:建立了应用实时荧光定量PCR技术进行DJ-1基因外显子重排突变检测的技术平台;中国人群AREP患者DJ-1基因外显子重排突变可能罕见.

  2. Autosomal recessive, early-onset Parkinson’s disease

    NARCIS (Netherlands)

    V. Bonifati (Vincenzo)

    2003-01-01

    textabstractParkinson’s disease (PD) is the second most common neurodegenerative disorder after Alzheimer’s disease, with a prevalence of 1-2% in the population aged 65 years.1 The disease is clinically defi ned by the presence of parkinsonism (the combination of akinesia, resting tremor, and muscul

  3. Autosomal recessive, early-onset Parkinson’s disease

    OpenAIRE

    Bonifati, Vincenzo

    2003-01-01

    textabstractParkinson’s disease (PD) is the second most common neurodegenerative disorder after Alzheimer’s disease, with a prevalence of 1-2% in the population aged 65 years.1 The disease is clinically defi ned by the presence of parkinsonism (the combination of akinesia, resting tremor, and muscular rigidity), and a good response to dopaminergic therapy. These features are associated at pathological level with neuronal loss and gliosis, mainly in the substantia nigra pars compacta but also ...

  4. Genetics Home Reference: autosomal recessive congenital stationary night blindness

    Science.gov (United States)

    ... Genet. 2012 Feb 10;90(2):321-30. doi: 10.1016/j.ajhg.2011.12.007. Erratum ... Hum Genet. 2009 Nov;85(5):720-9. doi: 10.1016/j.ajhg.2009.10.013. Epub ... Hum Genet. 2009 Nov;85(5):711-9. doi: 10.1016/j.ajhg.2009.10.003. Epub ...

  5. Mutation of ATF6 causes autosomal recessive achromatopsia.

    Science.gov (United States)

    Ansar, Muhammad; Santos-Cortez, Regie Lyn P; Saqib, Muhammad Arif Nadeem; Zulfiqar, Fareeha; Lee, Kwanghyuk; Ashraf, Naeem Mahmood; Ullah, Ehsan; Wang, Xin; Sajid, Sundus; Khan, Falak Sher; Amin-ud-Din, Muhammad; Smith, Joshua D; Shendure, Jay; Bamshad, Michael J; Nickerson, Deborah A; Hameed, Abdul; Riazuddin, Saima; Ahmed, Zubair M; Ahmad, Wasim; Leal, Suzanne M

    2015-09-01

    Achromatopsia (ACHM) is an early-onset retinal dystrophy characterized by photophobia, nystagmus, color blindness and severely reduced visual acuity. Currently mutations in five genes CNGA3, CNGB3, GNAT2, PDE6C and PDE6H have been implicated in ACHM. We performed homozygosity mapping and linkage analysis in a consanguineous Pakistani ACHM family and mapped the locus to a 15.12-Mb region on chromosome 1q23.1-q24.3 with a maximum LOD score of 3.6. A DNA sample from an affected family member underwent exome sequencing. Within the ATF6 gene, a single-base insertion variant c.355_356dupG (p.Glu119Glyfs*8) was identified, which completely segregates with the ACHM phenotype within the family. The frameshift variant was absent in public variant databases, in 130 exomes from unrelated Pakistani individuals, and in 235 ethnically matched controls. The variant is predicted to result in a truncated protein that lacks the DNA binding and transmembrane domains and therefore affects the function of ATF6 as a transcription factor that initiates the unfolded protein response during endoplasmic reticulum (ER) stress. Immunolabeling with anti-ATF6 antibodies showed localization throughout the mouse neuronal retina, including retinal pigment epithelium, photoreceptor cells, inner nuclear layer, inner and outer plexiform layers, with a more prominent signal in retinal ganglion cells. In contrast to cytoplasmic expression of wild-type protein, in heterologous cells ATF6 protein with the p.Glu119Glyfs*8 variant is mainly confined to the nucleus. Our results imply that response to ER stress as mediated by the ATF6 pathway is essential for color vision in humans. PMID:26063662

  6. Autosomal recessive limb girdle myasthenia in two sisters.

    Directory of Open Access Journals (Sweden)

    Shankar A

    2002-10-01

    Full Text Available Limb girdle myasthenic syndromes are rare genetic disorders described under the broad heterogeneous group known as congenital myasthenic syndromes and present with mixed features of myasthenia and myopathy. The familial limb girdle myasthenia has been described as one with selective weakness of pectoral and pelvic girdles, showing a positive response to edrophonium chloride. A report of two sisters affected by this disorder is presented.

  7. Genetics Home Reference: autosomal recessive hyper-IgE syndrome

    Science.gov (United States)

    ... with AR-HIES have neurological problems, such as paralysis that affects the face or one side of the body (hemiplegia). Blockage of blood flow in the brain or abnormal bleeding in the brain, both of ...

  8. Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia

    NARCIS (Netherlands)

    N.G. Abeling; M. Duran; H.D. Bakker; L. Stroomer; B. Thony; N. Blau; J. Booij; B.T. Poll-The

    2006-01-01

    The diagnosis of a 14-year-old girl with a new homoallelic mutation in the sepiapterin reductase (SR) gene is reported. Initially she presented at the age of 2 with hypotonia and mild cognitive developmental delay, and was diagnosed as having mild methylmalonic aciduria, which was recently identifie

  9. Autosomal recessive cerebellar ataxia with bull's-eye macular dystrophy.

    NARCIS (Netherlands)

    Cruysberg, J.R.M.; Eerola, K.U.; Vrijland, H.R.; Aandekerk, A.L.; Kremer, H.P.H.; Deutman, A.F.

    2002-01-01

    PURPOSE: In 1980, we published in the American Journal of Ophthalmology two siblings with hereditary ataxia and atrophic maculopathy. The report is cited in the literature as autosomal dominant cerebellar ataxia with retinal degeneration. The purpose of the present study is to document the progressi

  10. 应用SYBR GreenⅠ实时荧光定量聚合酶链反应检测常染色体隐性遗传早发性帕金森综合征的parkin基因外显子重排突变%Analysis of exon rearrangements in the parkin gene in patients with autosomal recessive early-onset parkinsonism using SYBR Green Ⅰ Real-time PCR

    Institute of Scientific and Technical Information of China (English)

    唐北沙; 严新翔; 聂利珞; 郭纪锋; 张海南; 张学伟; 王磊; 沈璐; 江泓; 夏昆

    2009-01-01

    目的 建立应用SYBR GreenⅠ实时荧光定量聚合酶链反应(Real-time PCR,RT-PCR)检测parkin基因外显子重排突变的技术平台,应用该技术对常染色体隐性遗传早发型帕金森综合征(autosomal recessive early-onset parkinsonism,AREP) 家系进行parkin基因外显子重排突变分析.方法 应用SYBR GreenⅠRT-PCR技术对32个中国AREP家系进行parkin基因外显子重排突变分析.结果 14个家系先证者存在parkin基因外显子重排突变,其中3个为纯合缺失突变、3个为复杂杂合缺失突变和8个杂合缺失突变,未发现外显子重复突变,突变主要累及第2~4号外显子.结论 建立了应用SYBR GreenⅠRT-PCR技术检测parkin基因外显子重排突变的基因检测平台;中国AREP 家系的parkin基因外显子重排突变频率为43.8%,与国外报道相似.%Objective To develop a method of detection exon rearrangements in the parkin gene (PARK2) using SYBR Green Ⅰ real-time PCR and to analyze PARK2 exon rearrangement mutations in families with autosomal recessive early-onset parkinsonism (AREP) using this method. Methods Exon rearrangement in PARK2 was screened by SYBR Green Ⅰ real-time PCR in 32 families with AREP. Results Exon rearrangement mutations were found in 14 families, including 3 compound heterozygous deletions;3 homozygous deletions;and 8 heterozygous deletions. No duplication mutation was found. Hotspot for exon rearrangements clustered in exons 2 through 4. Conclusions We have developed a gene test method using SYBR Green Ⅰ Real-time PCR to detect exon rearrangements in the gene PARK2. The frequency of PARK2 mutation is 43.8% in Chinese families with AREP. This frequency is similar to reported findings in other countries.

  11. 常染色体隐性遗传的类Duchenne肌营养不良临床特征及其发生比率的估计值分析%The Proportion and Clinical Feature of Duchenne Muscular Dystrophy With Autosomal Recessive Inheritance

    Institute of Scientific and Technical Information of China (English)

    麻宏伟; 武盈玉; 王阳; 高薇; 薛燕宁

    2001-01-01

    目的:探讨常染色体隐性遗传的类杜氏肌营养不良(类DMD)临床特点及其在杜氏肌营养不良症(DMD)中的比例。方法:研究8个家系中9例女性类DMD的临床表现、家族史及血清肌酸激酶水平,并估计常染色体隐性遗传的类DMD在DMD中的比例。结果:常染色体隐性遗传的类DMD患者独立行走的平均时间为(1.47±1.00)岁,症状出现的平均时间为(8.11±4.32)岁,血清肌酸激酶平均水平为(2785.10±1500.29)U/L,这种常染色体隐性遗传型类DMD占DMD的9.4%。结论:常染色体隐性遗传的类DMD与DMD在临床上无法区别,部分被认为是性连锁隐性遗传的DMD,实际上是常染色体隐性遗传的类DMD。%Objective:Our aim was to investigate the proportion of autosomal recessive (AR) inheritance among families with patients with Duchenne muscular dystrophy (DMD) and clinical feature in patients with AR form of DMD. Methods:A total of 193 families was studied, 8 of them with at least one girl with “DMD - like” phenotype and 185 with only boys with this kind of phenotype. Based on the number of families with at least one affected girl and the number of patients per sibship among these pedigrees, the proportion of families with DMD inherited as an AR trait was estimated. The clinical examination, family history and serum creatine-kinase were studied in 11 patients diagnosed as AR form of DMD. Results: The proportion of families with AR form of DMD was estimated as 9.4%. The average age of being able to walk is (1.47±1.00) year, serum creatine-kinase levels were (2785.10±1500.29) U/L. The clinical symptom occurred at the average age of (8.11±4.32) year in patients with AR form of DMD. Conclusion: The AR form of muscular dystrophy and DMD not be distingushed clinically. Some families with only affected boys diagnosed as typical DMD, in fact, have the AR form of the disease. This study is very useful for genetic consulting.

  12. Exon rearrangement analysis of parkin gene in patients with autosomal recessive early-onset parkinsonism using fluorescent semi-quantitative PCR%应用荧光半定量聚合酶链反应方法检测常染色体隐性遗传早发性帕金森综合征parkin基因外显子重排突变分析

    Institute of Scientific and Technical Information of China (English)

    郭纪锋; 蔡芳; 潘乾; 沈璐; 江泓; 唐北沙; 夏昆; 严新翔; 张玉虎; 陈涛; 李静; 张学伟; 曹立

    2006-01-01

    目的探讨常染色体隐性遗传早发性帕金森综合征(autosomal recessive early-onset parkinsonism,AREP)parkin基因外显子重排突变情况.方法应用荧光半定量聚合酶链反应(PCR)方法对18个AREP家系进行parkin基因外显子重排突变分析.结果9个AREP家系含有parkin基因外显子重排突变,其中2个家系为外显子4纯合缺失,2个家系为外显子4杂合缺失,2个家系为外显子2杂合缺失,1家系为外显子3杂合缺失,1家系为外显子1杂合缺失,此外,1家系为外显子3和外显子4的复合杂合缺失.未见parkin基因外显子重复突变.结论我国AREP患者存在parkin基因外显子重排突变;parkin基因外显子重排突变可能是我国AREP患者的主要致病因素.

  13. Homozygosity mapping and mutation analysis of a consanguineous marriage family with autosomal recessive cerebellar ataxia%近亲婚配的常染色体隐性遗传共济失调家系致病基因纯合性定位及突变分析

    Institute of Scientific and Technical Information of China (English)

    郝莹; 顾卫红; 陈园园; 张瑾

    2015-01-01

    Objective To identify the pathogenic gene for a Chinese Han consanguineous marriage family with autosomal recessive cerebellar ataxia by homozygosity mapping and mutation analysis.Methods Six members of the family were enrolled in this study,including 3 patients,the unaffected sibling and their parents of first cousin marriage.After excluding GAA repeats mutation of FXN gene,whole-genome single nucleotide polymorphism (SNP) microarray scanning and homozygosity mapping were performed to localize the candidate gene.The coding regions and intronic flanking sequences of the candidate genes were analyzed.Results Four candidate regions were identified,including 2p25.3,9q22.2-34.3,13q12.3-14.3 and 17p13.The SETX gene localizing in 9q22.2-34.3 that is responsible for ataxia with oculomotor apraxia 2 was analyzed at first.There were 4 mutations in exon 10,including three missense mutations (c.3576T > G,p.D1192E ; c.3754G > A,p.G1252R; c.4156A > G,p.I1386V) and a deletion mutation (c.5084_5087delAGTC,p.Q1695_S1696del).Three patients were homozygous of the 4 mutations,an unaffected sibling was normal,and their parents were heterozygous of 4 mutations.Conclusions The pathogenic haplotype comprising four mutations of the SETX gene was identified in the consanguinity family.c.5084_5087delAGTC (p.Q1695_S1696del) is a novel mutation.The affected individuals of this family were characterized by mild phenotype and slow progress without oculomotor apraxia,indicating the clinical variability of the disease.%目的 针对1个一级表兄妹婚配的常染色体隐性遗传共济失调汉族家系进行致病基因的定位和突变分析.方法 将该家系的6个成员作为研究对象,包括3个患病同胞、1个健康同胞以及他们的父母(表兄妹关系).排除家系患者FXN基因内含子区GAA三核苷酸纯合突变;采用全基因组单核苷酸多态性芯片扫描结合纯合性定位方法定位候选基因;在候选区域内进行

  14. FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome.

    NARCIS (Netherlands)

    Fonzo, A. Di; Dekker, M.C.J.; Montagna, P.; Baruzzi, A.; Yonova, E.H.; Correia Guedes, L.; Szczerbinska, A.; Zhao, T.; Dubbel-Hulsman, L.O.; Wouters, C.H.; Graaff, E. de; Oyen, W.J.G.; Simons, E.J.; Breedveld, G.J.; Oostra, B.A.; Horstink, M.W.I.M.; Bonifati, V.

    2009-01-01

    BACKGROUND: The combination of early-onset, progressive parkinsonism with pyramidal tract signs has been known as pallido-pyramidal or parkinsonian-pyramidal syndrome since the first description by Davison in 1954. Very recently, a locus was mapped in a single family with an overlapping phenotype, a

  15. Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient

    Science.gov (United States)

    Fernández-Jáen, Alberto; Álvarez, Sara; So, Eui Young; Ouchi, Toru; de la Peña, Mar Jiménez; Duat, Anna; Fernández-Mayoralas, Daniel Martín; Fernández-Perrone, Ana Laura; Albert, Jacobo; Calleja-Pérez, Beatriz

    2016-01-01

    We describe a 4-year-old male child born to non-consanguineous Spanish parents with progressive encephalopathy (PE), microcephaly, and hypertonia. Whole exome sequencing revealed compound heterozygous BRAT1 mutations [c.1564G > A (p.Glu522Lys) and c.638dup (p.Val214Glyfs*189)]. Homozygous and compound heterozygous BRAT1 mutations have been described in patients with lethal neonatal rigidity and multifocal seizure syndrome (MIM# 614498). The seven previously described patients suffered from uncontrolled seizures, and all of those patients died in their first months of life. BRAT1 acts as a regulator of cellular proliferation and migration and is required for mitochondrial function. The loss of these functions may explain the cerebral atrophy observed in this case of PE. This case highlights the extraordinary potential of next generation technologies for the diagnosis of rare genetic diseases, including PE. Making a prompt diagnosis of PE is important for genetic counseling and disease management. PMID:26947546

  16. Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder

    NARCIS (Netherlands)

    Kumar, R.; Corbett, M.A.; Smith, N.J.; Jolly, L.A.; Tan, C.; Keating, D.J.; Duffield, M.D.; Utsumi, T.; Moriya, K.; Smith, K.R.; Hoischen, A.; Abbott, K.; Harbord, M.G.; Compton, A.G.; Woenig, J.A.; Arts, P.; Kwint, M.; Wieskamp, N.; Gijsen, S.; Veltman, J.A.; Bahlo, M.; Gleeson, J.G.; Haan, E.; Gecz, J.

    2015-01-01

    We report siblings of consanguineous parents with an infantile-onset neurodegenerative disorder manifesting a predominant sensorimotor axonal neuropathy, optic atrophy and cognitive deficit. We used homozygosity mapping to identify an approximately 12-Mbp interval identical by descent (IBD) between

  17. Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability

    Directory of Open Access Journals (Sweden)

    R. Curtis Rogers

    2011-01-01

    Full Text Available Purpose. The objective of this study was to present and describe two additional patients diagnosed with Vici syndrome. Methods. Clinical, laboratory, and imaging findings of the two siblings are discussed in detail. The two patients' descriptions are compared with the other eleven patients reported in the literature. We also presented detailed autopsy results on the male sibling, which demonstrated cytoplasmic vacuoles of the cardiomyocytes and confirmed the clinical findings. Results. The patients reported here include the 13th and 14th patients reported with Vici syndrome. The summary of findings present in these patients includes postnatal growth retardation, developmental delay, bilateral cataracts, agenesis of the corpus callosum, cerebellar anomalies, gyral abnormalities, seizures, hypotonia, and cardiomyopathy. Conclusion. Vici syndrome should be suspected in any child with agenesis of the corpus callosum and one of the following findings: cardiomyopathy, cataracts, immune deficiency, or cutaneous hypopigmentation.

  18. A newly recognized autosomal recessive syndrome affecting neurologic function and vision

    OpenAIRE

    Salih, M.; A. Tzschach; Oystreck, D.; Hassan, H.; AlDrees, A.; Elmalik, S.; El Khashab, H.; Wienker, T; Abu-Amero, K; Bosley, T.

    2013-01-01

    Genetic factors represent an important etiologic group in the causation of intellectual disability. We describe a Saudi Arabian family with closley related parents in which four of six children were affected by a congenital cognitive disturbance. The four individuals (aged 18, 16, 13, and 2 years when last examined) had motor and cognitive delay with seizures in early childhood, and three of the four (sparing only the youngest child) had progressive, severe cognitive decline with spasticity. ...

  19. Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH

    Directory of Open Access Journals (Sweden)

    Seyyedha Abbas

    2014-07-01

    Conclusion:Both families were tested for linkage by genotyping polymorphic microsatellite markers linked to known alopecia loci. Family A excluded all known diseased regions that is suggestive of some novel chromosomal disorder. However, sequencing of P2RY5 gene in family B showed no pathogenic mutation.

  20. "Dermatoglyphic Observations in an Iranian Girl Affected with Congenital Cutis Laxa (Autosomal Recessive"

    Directory of Open Access Journals (Sweden)

    H Pour-Jafari

    2003-08-01

    Full Text Available The aim of the this work was to determine the finger patterns, Finger Ridge Count (FRC, Total Finger Ridge Count (TFRC, and Asymmetry of Finger Ridge Count (AFRC of an Iranian girl (aged 13 years affected with congenital cutis laxa (CCL.The fingerprints of the first phalanx of both hands were taken by using the standard method (stamp ink. The fingerprints were classified according to the Galton nomenclature. The patterns of palm creases were also studied. Besides, the ridges of fingerprints of all ten fingers were counted, then employing the related formulas, the FRC, TFRC and AFRC were calculated.Results showed that the finger patterns of all ten fingers were radial loop; the major creases of the palms existed but their sizes were not normal. TFRC, which is the sum of all ten FRCs, was 77 (“low”, and AFRC was 10.344, more than that of her normal sister, that was 7.280. It is concluded that in CCL, the TFRC and symmetry of the fingertips ridges count may decrease; also palm pattern may be unusual.

  1. A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment

    NARCIS (Netherlands)

    Schrauwen, I.; Helfmann, S.; Inagaki, A.; Predoehl, F.; Tabatabaiefar, M.A.; Picher, M.M.; Sommen, M.; Seco, C.Z.; Oostrik, J.; Kremer, J.M.J.; Dheedene, A.; Claes, C.; Fransen, E.; Chaleshtori, M.H.; Coucke, P.; Lee, A.; Moser, T.; Camp, G. van

    2012-01-01

    CaBPs are a family of Ca(2+)-binding proteins related to calmodulin and are localized in the brain and sensory organs, including the retina and cochlea. Although their physiological roles are not yet fully elucidated, CaBPs modulate Ca(2+) signaling through effectors such as voltage-gated Ca(v) Ca(2

  2. ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.

    Science.gov (United States)

    Wang, Shih-Kai; Choi, Murim; Richardson, Amelia S; Reid, Bryan M; Lin, Brent P; Wang, Susan J; Kim, Jung-Wook; Simmer, James P; Hu, Jan C-C

    2014-04-15

    Integrins are cell-surface adhesion receptors that bind to extracellular matrices (ECM) and mediate cell-ECM interactions. Some integrins are known to play critical roles in dental enamel formation. We recruited two Hispanic families with generalized hypoplastic amelogenesis imperfecta (AI). Analysis of whole-exome sequences identified three integrin beta 6 (ITGB6) mutations responsible for their enamel malformations. The female proband of Family 1 was a compound heterozygote with an ITGB6 transition mutation in Exon 4 (g.4545G > A c.427G > A p.Ala143Thr) and an ITGB6 transversion mutation in Exon 6 (g.27415T > A c.825T > A p.His275Gln). The male proband of Family 2 was homozygous for an ITGB6 transition mutation in Exon 11 (g.73664C > T c.1846C > T p.Arg616*) and hemizygous for a transition mutation in Exon 6 of Nance-Horan Syndrome (NHS Xp22.13; g.355444T > C c.1697T > C p.Met566Thr). These are the first disease-causing ITGB6 mutations to be reported. Immunohistochemistry of mouse mandibular incisors localized ITGB6 to the distal membrane of differentiating ameloblasts and pre-ameloblasts, and then ITGB6 appeared to be internalized by secretory stage ameloblasts. ITGB6 expression was strongest in the maturation stage and its localization was associated with ameloblast modulation. Our findings demonstrate that early and late amelogenesis depend upon cell-matrix interactions. Our approach (from knockout mouse phenotype to human disease) demonstrates the power of mouse reverse genetics in mutational analysis of human genetic disorders and attests to the need for a careful dental phenotyping in large-scale knockout mouse projects.

  3. Decreased bone density and treatment in patients with autosomal recessive cutis laxa.

    NARCIS (Netherlands)

    Noordam, C.; Funke, S.; Slobbe-Knoers, V.V.A.M.; Jira, P.E.; Wevers, R.A.; Urban, Z.; Morava, E.

    2009-01-01

    AIM: Due to the occasional association pathological fractures and osteoporosis we evaluated four patients with cutis laxa syndrome for skeletal anomalies. PATIENT/METHODS: We prospectively evaluated four patients, a male and a female child and a brother-sister sib pair, with dysmorphic features, gro

  4. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

    Energy Technology Data Exchange (ETDEWEB)

    Turkbey, Baris; Choyke, Peter L. [National Institutes of Health, Molecular Imaging Program, National Cancer Institute, Bethesda, MD (United States); Ocak, Iclal [National Institutes of Health, Molecular Imaging Program, National Cancer Institute, Bethesda, MD (United States); University of Pittsburgh Medical Center, Department of Radiology, Pittsburgh, PA (United States); Daryanani, Kailash [National Institutes of Health, Clinical Center, Department of Radiology, Bethesda, MD (United States); Font-Montgomery, Esperanza; Lukose, Linda; Bryant, Joy; Tuchman, Maya; Gahl, William A. [National Institutes of Health, National Human Genome Research Institute, Medical Genetics Branch, Bethesda, MD (United States); Mohan, Parvathi [George Washington University, Department of Pediatric Gastroenterology, Washington, DC (United States); Heller, Theo [National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD (United States); Gunay-Aygun, Meral [National Institutes of Health, National Human Genome Research Institute, Medical Genetics Branch, Bethesda, MD (United States); National Institutes of Health, Intramural Program, Office of Rare Diseases, Office of the Directors, Bethesda, MD (United States)

    2009-02-15

    ARPKD/CHF is an inherited disease characterized by non-obstructive fusiform dilatation of the renal collecting ducts leading to enlarged spongiform kidneys and ductal plate malformation of the liver resulting in congenital hepatic fibrosis. ARPKD/CHF has a broad spectrum of clinical presentations involving the kidney and liver. Imaging plays an important role in the diagnosis and follow-up of ARPKD/CHF. Combined use of conventional and high-resolution US with MR cholangiography in ARPKD/CHF patients allows detailed definition of the extent of kidney and hepatobiliary manifestations without requiring ionizing radiation and contrast agents. (orig.)

  5. CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

    DEFF Research Database (Denmark)

    Saunders, Carol; Smith, Laurie; Wibrand, Flemming;

    2015-01-01

    of type IV 3-MGA-uria characterized by cataracts, severe psychomotor regression during febrile episodes, epilepsy, neutropenia with frequent infections, and death in early childhood. Four of the individuals were of Greenlandic descent, and one was North American, of Northern European and Asian descent...

  6. [Autosomal recessive GTPCH 1 deficiency: the importance of the analysis of neurotransmitters in cerebrospinal fluid].

    Science.gov (United States)

    Moreno-Medinilla, E E; Mora-Ramirez, M D; Calvo-Medina, R; Martinez-Anton, J

    2016-06-01

    Introduccion. El deficit de la enzima trifosfato de guanosina ciclohidrolasa 1 (GTPCH 1) origina una disminucion de la sintesis de la tetrahidrobiopterina (BH4), cofactor indispensable en la sintesis de la tirosina, la dopamina y la serotonina. Es una enfermedad poco frecuente que produce un retraso o regresion psicomotora y trastornos del movimiento, y en la que el tratamiento puede mejorar o incluso corregir la clinica. Caso clinico. Niña afecta de deficit de GTPCH con herencia autosomica recesiva, diagnosticada a los 14 meses con estudio del liquido cefalorraquideo con deficit de pterinas, HVA y 5-HIAA, test de sobrecarga de fenilalanina y estudio genetico positivos. La clinica comenzo a los 5 meses con temblor cefalico y de las extremidades superiores, en reposo e intencional, intermitente, que desaparecio en un mes. El desarrollo psicomotor era normal, destacaba una hipotonia axial leve en la exploracion y las pruebas complementarias realizadas fueron normales. Posteriormente presento regresion psicomotora con perdida del sosten cefalico, disminucion de los movimientos activos, dificultad para la manipulacion bimanual, hipomimia e hipotonia global grave, lo que motivo el estudio de una encefalopatia progresiva. Tras el diagnostico de deficit de GTPCH, inicio tratamiento sustitutivo con levodopa/carbidopa, OH triptofano y BH4, con muy buena evolucion tanto motora como cognitiva. Actualmente, la paciente tiene 5 años, presenta un desarrollo psicomotor adecuado a su edad, cursa tercer curso de educacion infantil y ha alcanzado el nivel de su clase. Conclusion. Hay que destacar en este caso la mejoria tan satisfactoria, tanto motora como cognitiva, tras iniciar el tratamiento sustitutivo, ya que el nivel cognitivo suele quedar afectado en muchos casos.

  7. Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus—update and epidemiology

    OpenAIRE

    Bichet, Daniel G.; El Tarazi, Abdulah; Matar, Jessica; Lussier, Yoann; Arthus, Marie-Françoise; Lonergan, Michèle; Bockenhauer, Detlef; Bissonnette, Pierre

    2012-01-01

    It is clinically useful to distinguish between two types of hereditary nephrogenic diabetes insipidus (NDI): a ‘pure’ type characterized by loss of water only and a complex type characterized by loss of water and ions. Patients with congenital NDI bearing mutations in the vasopressin 2 receptor gene, AVPR2, or in the aquaporin-2 gene, AQP2, have a pure NDI phenotype with loss of water but normal conservation of sodium, potassium, chloride and calcium. Patients with hereditary hypokalemic salt...

  8. Screening for homozygosity by descent in families with autosomal recessive retinitis pigmentosa

    Indian Academy of Sciences (India)

    Kota Lalitha; Subhadra Jalali; Tejas Kadakia; Chitra Kannabiran

    2002-08-01

    Retinitis pigmentosa (RP) is a genetically heterogeneous disease and an important cause of blindness in the state of Andhra Pradesh in India. In an attempt to identify the disease locus in families with the recessive form of the disease, we used the approach of screening for homozygosity by descent in offspring of consanguineous and nonconsanguineous families with RP. Microsatellite markers closely flanking 21 known candidate genes for RP were genotyped in parents and affected offspring to determine whether there was homozygosity at these loci that was shared by affected individuals of a family. This screening approach may be a rapid preliminary method to test known loci for possible cosegregation with disease.

  9. Genetics Home Reference: cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

    Science.gov (United States)

    ... Miyashita A, Yokoseki A, Kawata H, Koyama A, Arima K, Takahashi T, Ikeda M, Shiota H, Tamura ... Oide T, Nakayama H, Yanagawa S, Ito N, Ikeda S, Arima K. Extensive loss of arterial medial smooth muscle ...

  10. THE DISTURBANCE OF METABOLISM OF THE AMINO ACIDS AS A CAUSATIVE FOR THE MENTAL RETARDATION-PHENYLKETONURIA

    Directory of Open Access Journals (Sweden)

    Jasmina IVANOVSKA

    2000-06-01

    Full Text Available PKU is the rare single-gene disease belonging to disturbance of metabolism of the amino acids, which in its own basics halved the mutated gene, whose leaning at the 12-chromosome charge for the synthesis of phenylalanine hydroxylase, turning on phenylalanine into tyrosine. Enzyme block usually leads to the accumulation of a toxic substrate and/or the deficient synthesis of a product needed for normal body function. In PKU there is a toxic accumulation of phenylalanine behind the deficient enzyme, phenylalanine hydrоxylase. The symptoms are: lighten hare, blue eyes, lithe pigmented skin, convulsion, mental retardation, low level of adrenalin caused for the lack of tyrosine, the urine have a specific smell of rats or gab.Inheritance of disease become in autosomal recessive way which always become possibility to stay hidden in the family and to inherit from knee to knee without manifestation of its own phenotype.The only therapy that successfully avoids the causes of this disease is phenylalanine-restricted diet. Today we have some affords for improvement of gene therapy, which can help us for determination to these disease. The success of the therapy depends from timing of the right detection also diagnostics all trough equivalent therapy which can successfully interrupt the new forms of mental retardation and other symptoms.

  11. Protein implicated in nonsyndromic mental retardation regulates protein kinase A (PKA) activity

    KAUST Repository

    Al-Tawashi, Azza

    2012-02-28

    Mutation of the coiled-coil and C2 domain-containing 1A (CC2D1A) gene, which encodes a C2 domain and DM14 domain-containing protein, has been linked to severe autosomal recessive nonsyndromic mental retardation. Using a mouse model that produces a truncated form of CC2D1A that lacks the C2 domain and three of the four DM14 domains, we show that CC2D1A is important for neuronal differentiation and brain development. CC2D1A mutant neurons are hypersensitive to stress and have a reduced capacitytoformdendritesandsynapsesinculture. Atthebiochemical level,CC2D1Atransduces signals to the cyclic adenosine 3?,5?-monophosphate (cAMP)-protein kinase A (PKA) pathway during neuronal cell differentiation. PKA activity is compromised, and the translocation of its catalytic subunit to the nucleus is also defective in CC2D1A mutant cells. Consistently, phosphorylation of the PKA target cAMP-responsive element-binding protein, at serine 133, is nearly abolished in CC2D1A mutant cells. The defects in cAMP/PKA signaling were observed in fibroblast, macrophage, and neuronal primary cells derived from the CC2D1A KO mice. CC2D1A associates with the cAMP-PKA complex following forskolin treatment and accumulates in vesicles or on the plasma membrane in wild-type cells, suggesting that CC2D1A may recruit the PKA complex to the membrane to facilitate signal transduction. Together, our data show that CC2D1A is an important regulator of the cAMP/PKA signaling pathway, which may be the underlying cause for impaired mental function in nonsyndromic mental retardation patients with CC2D1A mutation. 2012 by The American Society for Biochemistry and Molecular Biology, Inc.

  12. A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31.

    Science.gov (United States)

    Wali, A; John, P; Gul, A; Lee, K; Chishti, M S; Ali, G; Hassan, M J; Leal, S M; Ahmad, W

    2006-09-01

    Congenital alopecia may occur either alone or in association with ectodermal and other abnormalities. On the bases of such associations, several different syndromes featuring congenital alopecia can be distinguished. Alopecia with mental retardation syndrome (APMR) is a rare autosomal recessive disorder, clinically characterized by total or partial hair loss and mental retardation. In the present study, a five-generation Pakistani family with multiple affected individuals with APMR was ascertained. Patients in this family exhibited typical features of APMR syndrome. The disease locus was mapped to chromosome 3q26.2-q26.31 by carrying out a genome scan followed by fine mapping. A maximum two-point logarithm of odds (LOD) score of 2.93 at theta=0.0 was obtained at markers D3S3053 and D3S2309. Multipoint linkage analysis resulted in a maximum LOD score of 4.57 with several markers, which supports the linkage. The disease locus was flanked by markers D3S1564 and D3S2427, which corresponds to 9.6-cM region according to the Rutgers combined linkage-physical map of the human genome (build 35) and contains 5.6 Mb. The linkage interval of the APMR locus identified here does not overlap with the one described previously; therefore, this locus has been designated as APMR2.

  13. Clinical and neuroradiological study on adult cases of familial microcephaly associated with mental retardation and convulsive seizure

    International Nuclear Information System (INIS)

    Microcephaly results from various causes, some genetic and some non-genetic. Recently, we encountered two families with microcephaly, mental retardation and convulsive seizure. These conform to an autosomal recessive mode of inheritance. All adult cases were analyzed to describe the characteristic neuroradiographic findings. Although each presented a similar neurologic outlook, two cases secondarily resulting from infection or injuries to the developing brain during postnatal periods showed a specific variation. Skull X-P and CT scan of these two cases showed thickening of the carvarium, predominantly fronto-parietal lobe atrophy of the cerebrum, enlargement of the ventricle, and compensatory hypertrophy of sinuses. Magnetic resonance imaging (MRI) showed severe micropolygyria and hypogenesis of corpus callosum. Abnormalities such as skull X-P, CT scan and MRI were severer in the secondary than in the primary microcephalics. Although brain volume was reduced, the volume ratio of cortex to white watter was similar to that of normal brain. MRI on severe cases of microcephaly revealed a high signal intensity in inversion-recovery images on the brain stem where markedly atrophy was noted. In adult microcephaly, the extent of cerebral development was thought to be reflected in the corpus callosum and brain stem where neuron fibers were densely gathered. (author)

  14. A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis

    Directory of Open Access Journals (Sweden)

    Garuti Rita

    2010-10-01

    Full Text Available Article abstract Mutations of the gene encoding the mitochondrial enzyme sterol 27-hydroxylase (CYP27A1 gene cause defects in the cholesterol pathway to bile acids that lead to the storage of cholestanol and cholesterol in tendons, lenses and the central nervous system. This disorder is the cause of a clinical syndrome known as cerebrotendinous xanthomatosis (CTX. Since 1991 several mutations of the CYP27A1 gene have been reported. We diagnosed the clinical features of CTX in a caucasian woman. Serum levels of cholestanol and 7α-hydroxycholesterol were elevated and the concentration of 27-hydroxycholesterol was reduced. Bile alcohols in the urine and faeces were increased. The analysis of the CYP27A1 gene showed that the patient was a compound heterozygote carrying two mutations both located in exon 8. One mutation is a novel four nucleotide deletion (c.1330-1333delTTCC that results in a frameshift and the occurrence of a premature stop codon leading to the formation of a truncated protein of 448 amino acids. The other mutation, previously reported, is a C - > T transition (c. c.1381C > T that converts the glutamine codon at position 461 into a termination codon (p.Q461X. These truncated proteins are expected to have no biological function being devoid of the cysteine residue at position 476 of the normal enzyme that is crucial for heme binding and enzyme activity.

  15. A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25.

    OpenAIRE

    McHale, D P; Mitchell, S.; Bundey, S; Moynihan, L; Campbell, D. A.; Woods, C G; LENCH, N. J.; Mueller, R F; Markham, A F

    1999-01-01

    Cerebral palsy has an incidence of approximately 1/500 births, although this varies between different ethnic groups. Genetic forms of the disease account for approximately 1%-2% of cases in most countries but contribute a larger proportion in populations with extensive inbreeding. We have clinically characterized consanguineous families with multiple children affected by symmetrical spastic cerebral palsy, to locate recessive genes responsible for this condition. The eight families studied we...

  16. Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient

    OpenAIRE

    Olivé, Montse; Shatunov, Alexey; Gonzalez, Laura; Carmona, Olga; Moreno, Dolores; Quereda, Lidia Gonzalez; Martinez-Matos, J.A.; Goldfarb, Lev G.; Ferrer, Isidro

    2008-01-01

    A 27-year-old woman of Moldavian origin presented at the age of 15 with progressive proximal limb weakness and painful cramps in her calf muscles. Clinical examination revealed prominent muscle weakness in proximal muscles of the lower extremities and distal anterior compartment of legs, and mild weakness in shoulder girdle muscles. In addition, she had marked calf hypertrophy, muscle atrophy involving the anterior and posterior compartments of the thighs, and the distal anterior compartment ...

  17. A Novel Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohidrotic Ectodermal Dysplasia

    DEFF Research Database (Denmark)

    Henningsen, Emil; Svendsen, Mathias Tiedemann; Lildballe, D. L.;

    2014-01-01

    nasal discharge. The girl was the second born child of first-cousin immigrants from Northern Iraq. A novel homozygous mutation (c.84delC) in the EDAR gene was identified. This mutation most likely causes a frameshift in the protein product (p.S29fs*74). This results in abolition of all ectodysplasin...

  18. Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

    Science.gov (United States)

    Breuss, Martin W; Sultan, Tipu; James, Kiely N; Rosti, Rasim O; Scott, Eric; Musaev, Damir; Furia, Bansri; Reis, André; Sticht, Heinrich; Al-Owain, Mohammed; Alkuraya, Fowzan S; Reuter, Miriam S; Abou Jamra, Rami; Trotta, Christopher R; Gleeson, Joseph G

    2016-07-01

    The tRNA splicing endonuclease is a highly evolutionarily conserved protein complex, involved in the cleavage of intron-containing tRNAs. In human it consists of the catalytic subunits TSEN2 and TSEN34, as well as the non-catalytic TSEN54 and TSEN15. Recessive mutations in the corresponding genes of the first three are known to cause pontocerebellar hypoplasia (PCH) types 2A-C, 4, and 5. Here, we report three homozygous TSEN15 variants that cause a milder version of PCH2. The affected individuals showed progressive microcephaly, delayed developmental milestones, intellectual disability, and, in two out of four cases, epilepsy. None, however, displayed the central visual failure seen in PCH case subjects where other subunits of the TSEN are mutated, and only one was affected by the extensive motor defects that are typical in other forms of PCH2. The three amino acid substitutions impacted the protein level of TSEN15 and the stoichiometry of the interacting subunits in different ways, but all resulted in an almost complete loss of in vitro tRNA cleavage activity. Taken together, our results demonstrate that mutations in any known subunit of the TSEN complex can cause PCH and progressive microcephaly, emphasizing the importance of its function during brain development. PMID:27392077

  19. Molecular genetic investigations of histone deacetylase inhibitors as potential neurotherapeutics for autosomal recessive proximal spinal muscular atrophy (SMA)

    OpenAIRE

    Brichta, Lars

    2006-01-01

    Proximal spinal muscular atrophy (SMA) is a common neuromuscular disorder causing infant death in 50 percent of all patients. Homozygous absence of the survival motor neuron gene (SMN1) is the primary cause of SMA, while SMA severity is mainly determined by the number of SMN2 copies. One SMN2 copy produces only about 10 percent of full-length (FL) protein identical to SMN1, whereas the majority of SMN2 transcripts are aberrantly spliced due to a silent mutation within an exonic splicing enhan...

  20. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

    Science.gov (United States)

    Vincent, Ajoy; Audo, Isabelle; Tavares, Erika; Maynes, Jason T; Tumber, Anupreet; Wright, Thomas; Li, Shuning; Michiels, Christelle; Condroyer, Christel; MacDonald, Heather; Verdet, Robert; Sahel, José-Alain; Hamel, Christian P; Zeitz, Christina; Héon, Elise

    2016-05-01

    Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteristic electroretinogram (ERG) abnormalities. Riggs and Schubert-Bornschein are subtypes of CSNB and demonstrate distinct ERG features. Riggs CSNB demonstrates selective rod photoreceptor dysfunction and occurs due to mutations in genes encoding proteins involved in rod phototransduction cascade; night blindness is the only symptom and eye examination is otherwise normal. Schubert-Bornschein CSNB is a consequence of impaired signal transmission between the photoreceptors and bipolar cells. Schubert-Bornschein CSNB is subdivided into complete CSNB with an ON bipolar signaling defect and incomplete CSNB with both ON and OFF pathway involvement. Both subtypes are associated with variable degrees of night blindness or photophobia, reduced visual acuity, high myopia, and nystagmus. Whole-exome sequencing of a family screened negative for mutations in genes associated with CSNB identified biallelic mutations in the guanine nucleotide-binding protein subunit beta-3 gene (GNB3). Two siblings were compound heterozygous for a deletion (c.170_172delAGA [p.Lys57del]) and a nonsense mutation (c.1017G>A [p.Trp339(∗)]). The maternal aunt was homozygous for the nonsense mutation (c.1017G>A [p.Trp339(∗)]). Mutational analysis of GNB3 in a cohort of 58 subjects with CSNB identified a sporadic case individual with a homozygous GNB3 mutation (c.200C>T [p.Ser67Phe]). GNB3 encodes the β subunit of G protein heterotrimer (Gαβγ) and is known to modulate ON bipolar cell signaling and cone transducin function in mice. Affected human subjects showed an unusual CSNB phenotype with variable degrees of ON bipolar dysfunction and reduced cone sensitivity. This unique retinal disorder with dual anomaly in visual processing expands our knowledge about retinal signaling. PMID:27063057

  1. High Resolution Ultrasonography for Assessment of Renal Cysts in the PCK Rat Model of Autosomal Recessive Polycystic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Sarika Kapoor

    2016-03-01

    Full Text Available Background/Aims: The PCK rat model of polycystic kidney disease is characterized by the progressive development of renal medullary cysts. Here, we evaluated the suitability of high resolution ultrasonography (HRU to assess the kidney and cyst volume in PCK rats, testing three different ultrasound image analysis methods, and correlating them with kidneys weights and histological examinations. Methods: After inducing anesthesia, PCK rats (n=18 were subjected to HRU to visualize the kidneys, to perform numeric and volumetric measurements of the kidney and any cysts observed, and to generate 3-dimensional images of the cysts within the kidney parenchyma. Results: HRU provided superior information in comparison to microscopic analysis of stained kidney sections. HRU-based kidney volumes correlated strongly with kidney weights (R2=0.809; PConclusion: HRU represents a useful diagnostic tool for kidney and cyst volume measurements in PCK rats. Sequential HRU examinations may be useful to study the effect of drugs on cyst growth without the need to euthanize experimental animals.

  2. X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.

    Science.gov (United States)

    Savige, Judith; Storey, Helen; Il Cheong, Hae; Gyung Kang, Hee; Park, Eujin; Hilbert, Pascale; Persikov, Anton; Torres-Fernandez, Carmen; Ars, Elisabet; Torra, Roser; Hertz, Jens Michael; Thomassen, Mads; Shagam, Lev; Wang, Dongmao; Wang, Yanyan; Flinter, Frances; Nagel, Mato

    2016-01-01

    Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic laboratories worldwide, in addition to all published COL4A5, COL4A3 and COL4A4 variants in the LOVD databases. It also determined genotype-phenotype correlations for variants where clinical data were available. Individuals were referred for genetic testing where Alport syndrome was suspected clinically or on biopsy (renal failure, hearing loss, retinopathy, lamellated glomerular basement membrane), variant pathogenicity was assessed using currently-accepted criteria, and variants were examined for gene location, and age at renal failure onset. Results were compared using Fisher's exact test (DNA Stata). Altogether 754 new DNA variants were identified, an increase of 25%, predominantly in people of European background. Of the 1168 COL4A5 variants, 504 (43%) were missense mutations, 273 (23%) splicing variants, 73 (6%) nonsense mutations, 169 (14%) short deletions and 76 (7%) complex or large deletions. Only 135 of the 432 Gly residues in the collagenous sequence were substituted (31%), which means that fewer than 10% of all possible variants have been identified. Both missense and nonsense mutations in COL4A5 were not randomly distributed but more common at the 70 CpG sequences (pAla substitutions were underrepresented in all three genes (p< 0.0001) probably because of an association with a milder phenotype. The average age at end-stage renal failure was the same for all mutations in COL4A5 (24.4 ±7.8 years), COL4A3 (23.3 ± 9.3) and COL4A4 (25.4 ± 10.3) (COL4A5 and COL4A3, p = 0.45; COL4A5 and COL4A4, p = 0.55; COL4A3 and COL4A4, p = 0.41). For COL4A5, renal failure occurred sooner with non-missense than missense variants (p<0.01). For the COL4A3 and COL4A4 genes, age at renal failure occurred sooner with two non-missense variants (p = 0.08, and p = 0.01 respectively). Thus DNA variant characteristics that predict age at renal failure appeared to be the same for all three Alport genes. Founder mutations (with the pathogenic variant in at least 5 apparently- unrelated individuals) were not necessarily associated with a milder phenotype. This study illustrates the benefits when routine diagnostic laboratories share and analyse their data.

  3. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations

    NARCIS (Netherlands)

    Avila-Fernandez, A.; Perez-Carro, R.; Corton, M.; Lopez-Molina, M.I.; Campello, L.; Garanto, A.; Fernandez-Sanchez, L.; Duijkers, L.; Lopez-Martinez, M.A.; Riveiro-Alvarez, R.; Silva, L.R. Da; Sanchez-Alcudia, R.; Martin-Garrido, E.; Reyes, N.; Garcia-Garcia, F.; Dopazo, J.; Garcia-Sandoval, B.; Collin, R.W.J.; Cuenca, N.; Ayuso, C.

    2015-01-01

    Retinitis pigmentosa (RP) is a group of progressive inherited retinal dystrophies that cause visual impairment as a result of photoreceptor cell death. RP is heterogeneous, both clinically and genetically making difficult to establish precise genotype-phenotype correlations. In a Spanish family with

  4. A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia

    DEFF Research Database (Denmark)

    Roos, L; Fang, M; Dali, C;

    2013-01-01

    Anomalies of eye development can lead to the rare eye malformations microphthalmia and anophthalmia (small or absent ocular globes), which are genetically very heterogeneous. Several genes have been associated with microphthalmia and anophthalmia, and exome sequencing has contributed...

  5. Hennekam syndrome: a rare cause of primary lymphedema

    OpenAIRE

    Elmansour, Imane; Chiheb, Soumia; Benchikhi, Hakima

    2014-01-01

    Hennekam syndrome (HS) is an autosomal recessive disorder characterized by the association of lymphedema, intestinal lymphangiectasia, moderate mental retardation, and facial dysmorphism. We describe a 14-year-old girl affected with Hennekam syndrome.

  6. 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 sug

  7. The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies

    NARCIS (Netherlands)

    Gerkes, Erica H.; van der Kevie-Kersemaekers, Anne-Marie F.; Yakin, Mariam; Smeets, Dominique F. C. M.; van Ravenswaaij-Arts, Conny M. A.

    2010-01-01

    Roberts syndrome/SC phocomelia is a rare, autosomal recessive syndrome characterised by pre- and postnatal growth retardation, microcephaly, craniofacial anomalies, mental retardation, and tetraphocomelia in varying degrees of severity. The clinical diagnosis can be challenging in phenotypically mil

  8. New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

    DEFF Research Database (Denmark)

    Morris-Rosendahl, Deborah J; Segel, Reeval; Born, A Peter;

    2010-01-01

    Warburg Micro Syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. We have found...

  9. Disease: H00927 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available disease (CRD) is a rare autosomal recessive disorder characterized by malabsorption, failure to thrive (FTT), developmental difficult...ies, mental retardation, abnormal vibration sense, and hyporeflexia. CRD is caused

  10. Mental Disorders

    Science.gov (United States)

    Mental disorders include a wide range of problems, including Anxiety disorders, including panic disorder, obsessive-compulsive disorder, post- ... disorders, including schizophrenia There are many causes of mental disorders. Your genes and family history may play a ...

  11. Mental Health

    Science.gov (United States)

    Mental health includes our emotional, psychological, and social well-being. It affects how we think, feel and act as ... stress, relate to others, and make choices. Mental health is important at every stage of life, from ...

  12. Mental Byomdannelse

    DEFF Research Database (Denmark)

    Olsen, Tina Vestermann; Boye, Anne Mette; Borchmann, Inger Haarup;

    Formålet med publikationen er at præsentere metoden "Mental byomdannelse". Metoden viser, hvordan man via midlertidig brug af grunde kan undersøge et steds potentialer, tage et område i brug tidligt i en byomdannelsesproces og derved bidrage til at opbygge en ny identitet for området. Mental byom...

  13. Children's Mental Health Surveillance

    Science.gov (United States)

    Children’s Mental Health Surveillance What are childhood mental disorders? The term childhood mental disorder means all mental disorders that can be diagnosed and begin in childhood. Mental disorders among children are described ...

  14. Mental effort

    NARCIS (Netherlands)

    Kirschner, Paul A.; Kirschner, Femke

    2013-01-01

    Kirschner, P. A., & Kirschner, F. (2012). Mental effort. In N. Seel (Ed.), Encyclopedia of the sciences of learning, Volume 5 (pp. 2182-2184). New York, NY: Springer. doi:10.1007/978-1-4419-1428-6_226

  15. Disease: H00682 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00682 Woodhouse-Sakati syndrome; Hypogonadism, alopecia, diabetes mellitus, mental...ng a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyrami...pecia, hypogonadism, diabetes mellitus, mental retardation, and extrapyramidal sign... retardation, and extrapyramidal syndrome Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses alo

  16. A Register-Based Study of Diseases With an Autosomal Recessive Origin in Small Children in Denmark According to Maternal Country of Origin

    DEFF Research Database (Denmark)

    Gundlund, Anna; Hansen, Anne Vinkel; Pedersen, Grete Skøtt;

    2015-01-01

    BACKGROUND: Compared with children born of Danish mothers, the mortality of children, born and living in Denmark, is significantly increased in those with a mother from Afghanistan, Iraq, Pakistan, Somalia, and Turkey. Consanguinity has been suggested to account for part of this disparity. Since....... The risk of non-consanguinity-related diseases did not differ between the groups compared. CONCLUSIONS: The findings support the hypothesis that consanguinity accounts for some, however a minor part, of the disparity in child mortality among migrants in Denmark....

  17. GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness

    NARCIS (Netherlands)

    N.S. Peachey (Neal ); T.A. Ray (Thomas A.); R.J. Florijn (Ralph); L.B. Rowe (Lucy ); T. Sjoerdsma (Trijntje); S. Contreras-Alcantara (Susana); K. Baba (Kenkichi); G. Tosini (Gianluca); N. Pozdeyev (Nikita); P.M. Iuvone (P. Michael); P. Bojang Jr. (Pasano); J.N. Pearring (Jillian ); H.J. Simonsz (Huib); M.M. van Genderen (Maria); D.G. Birch (David ); E.I. Traboulsi (Elias); A. Dorfman (Allison); I. Lopez (Irma); H. Ren (Huanan); A.F.X. Goldberg (Andrew ); P.M. Nishina (Patsy); P. Lachapelle (Pierre); M.A. McCall (Maureen ); R.K. Koenekoop (Robert); A.A.B. Bergen (Arthur); M. Kamermans; R.G. Gregg (Ronald)

    2012-01-01

    textabstractComplete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impairment of night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual f

  18. ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA

    Directory of Open Access Journals (Sweden)

    D. Bahena-Bahena

    2014-01-01

    Full Text Available Patients with ARCL-IIA harbor mutations in ATP6V0A2 that codes for an organelle proton pump. The ARCL-IIA syndrome characteristically presents a combined glycosylation defect affecting N-linked and O-linked glycosylations, differentiating it from other cutis laxa syndromes and classifying it as a Congenital Disorder of Glycosylation (ATP6V0A2-CDG. We studied two Mexican Mestizo patients with a clinical phenotype corresponding to an ARCL-IIA syndrome. Both patients presented abnormal transferrin (N-linked glycosylation but Patient 1 had a normal ApoCIII (O-linked glycosylation profile. Mutational screening of ATP6V0A2 using cDNA and genomic DNA revealed in Patient 1 a previously reported homozygous nonsense mutation c.187C>T (p.R63X associated with a novel clinical finding of a VSD. In Patient 2 we found a homozygous c.2293C>T (p.Q765X mutation that had been previously reported but found that it also altered RNA processing generating a novel transcript not previously identified (r.2176_2293del; p.F726Sfs*10. This is the first report to describe Mestizo patients with molecular diagnosis of ARCL-IIA/ATP6V0A2-CDG and to establish that their mutations are the first to be found in patients from different regions of the world and with different genetic backgrounds.

  19. Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

    DEFF Research Database (Denmark)

    Huppke, Peter; Brendel, Cornelia; Kalscheuer, Vera;

    2012-01-01

    , hearing loss, and severe developmental delay. Cerebral MRI showed pronounced cerebellar hypoplasia and hypomyelination. Homozygosity mapping was performed and displayed a region of commonality among three families at chromosome 3q25. Deep sequencing and conventional sequencing disclosed homozygous...

  20. Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?

    Science.gov (United States)

    Fernández-Rebollo, Eduardo; Pérez de Nanclares, Guiomar; Lecumberri, Beatriz; Turan, Serap; Anda, Emma; Pérez-Nanclares, Gustavo; Feig, Denice; Nik-Zainal, Serena; Bastepe, Murat; Jüppner, Harald

    2011-08-01

    Most patients with autosomal dominant pseudohypoparathyroidism type Ib (AD-PHP-Ib) carry maternally inherited microdeletions upstream of GNAS that are associated with loss of methylation restricted to GNAS exon A/B. Only few AD-PHP-Ib patients carry microdeletions within GNAS that are associated with loss of all maternal methylation imprints. These epigenetic changes are often indistinguishable from those observed in patients affected by an apparently sporadic PHP-Ib form that has not yet been defined genetically. We have now investigated six female patients affected by PHP-Ib (four unrelated and two sisters) with complete or almost complete loss of GNAS methylation, whose healthy children (11 in total) showed no epigenetic changes at this locus. Analysis of several microsatellite markers throughout the 20q13 region made it unlikely that PHP-Ib is caused in these patients by large deletions involving GNAS or by paternal uniparental isodisomy or heterodisomy of chromosome 20 (patUPD20). Microsatellite and single-nucleotide variation (SNV) data revealed that the two affected sisters share their maternally inherited GNAS alleles with unaffected relatives that lack evidence for abnormal GNAS methylation, thus excluding linkage to this locus. Consistent with these findings, healthy children of two unrelated sporadic PHP-Ib patients had inherited different maternal GNAS alleles, also arguing against linkage to this locus. Based on our data, it appears plausible that some forms of PHP-Ib are caused by homozygous or compound heterozygous mutation(s) in an unknown gene involved in establishing or maintaining GNAS methylation.

  1. Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis.

    Science.gov (United States)

    Darr, A; Small, N; Ahmad, W I U; Atkin, K; Corry, P; Modell, B

    2016-01-01

    Currently, there is no consensus regarding services required to help families with consanguineous marriages manage their increased genetic reproductive risk. Genetic services for communities with a preference for consanguineous marriage in the UK remain patchy, often poor. Receiving two disparate explanations of the cause of recessive disorders (cousin marriage and recessive inheritance) leads to confusion among families. Further, the realisation that couples in non-consanguineous relationships have affected children leads to mistrust of professional advice. British Pakistani families at-risk for recessive disorders lack an understanding of recessive disorders and their inheritance. Such an understanding is empowering and can be shared within the extended family to enable informed choice. In a three-site qualitative study of British Pakistanis, we explored family and health professional perspectives on recessively inherited conditions. Our findings suggest, firstly, that family networks hold strong potential for cascading genetic information, making the adoption of a family-centred approach an efficient strategy for this community. However, this is dependent on provision of high-quality and timely information from health care providers. Secondly, families' experience was of ill-coordinated and time-starved services, with few having access to specialist provision from Regional Genetics Services; these perspectives were consistent with health professionals' views of services. Thirdly, we confirm previous findings that genetic information is difficult to communicate and comprehend, further complicated by the need to communicate the relationship between cousin marriage and recessive disorders. A communication tool we developed and piloted is described and offered as a useful resource for communicating complex genetic information. PMID:26363620

  2. Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.

    Science.gov (United States)

    Loucks, Catrina M; Parboosingh, Jillian S; Shaheen, Ranad; Bernier, Francois P; McLeod, D Ross; Seidahmed, Mohammed Z; Puffenberger, Erik G; Ober, Carole; Hegele, Robert A; Boycott, Kym M; Alkuraya, Fowzan S; Innes, A Micheil

    2015-10-01

    Recently, Alazami et al. (2015) identified 33 putative candidate disease genes for neurogenetic disorders. One such gene was DPH1, in which a homozygous missense mutation was associated with a 3C syndrome-like phenotype in four patients from a single extended family. Here, we report a second homozygous missense variant in DPH1, seen in four members of a founder population, and associated with a phenotype initially reminiscent of Sensenbrenner syndrome. This postpublication "match" validates DPH1 as a gene underlying syndromic intellectual disability with short stature and craniofacial and ectodermal anomalies, reminiscent of, but distinct from, 3C and Sensenbrenner syndromes. This validation took several years after the independent discoveries due to the absence of effective methods for sharing both candidate phenotype and genotype data between investigators. Sharing of data via Web-based anonymous data exchange servers will play an increasingly important role toward more efficient identification of the molecular basis for rare Mendelian disorders. PMID:26220823

  3. Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.

    Directory of Open Access Journals (Sweden)

    Dongyan Fan

    Full Text Available Different ethnic groups have distinct mutation spectrums associated with inheritable deafness. In order to identify the mutations responsible for congenital hearing loss in the Tibetan population, mutation screening for 98 deafness-related genes by microarray and massively parallel sequencing of captured target exons was conducted in one Tibetan family with familiar hearing loss. A homozygous mutation, TMPRSS3: c.535G>A, was identified in two affected brothers. Both parents are heterozygotes and an unaffected sister carries wild type alleles. The same mutation was not detected in 101 control Tibetan individuals. This missense mutation results in an amino acid change (p.Ala179Thr at a highly conserved site in the scavenger receptor cysteine rich (SRCR domain of the TMPRSS3 protein, which is essential for protein-protein interactions. Thus, this mutation likely affects the interactions of this transmembrane protein with extracellular molecules. According to our bioinformatic analyses, the TMPRSS3: c.535G>A mutation might damage protein function and lead to hearing loss. These data suggest that the homozygous mutation TMPRSS3: c.535G>A causes prelingual hearing loss in this Tibetan family. This is the first TMPRSS3 mutation found in the Chinese Tibetan population.

  4. Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis.

    Science.gov (United States)

    Darr, A; Small, N; Ahmad, W I U; Atkin, K; Corry, P; Modell, B

    2016-01-01

    Currently, there is no consensus regarding services required to help families with consanguineous marriages manage their increased genetic reproductive risk. Genetic services for communities with a preference for consanguineous marriage in the UK remain patchy, often poor. Receiving two disparate explanations of the cause of recessive disorders (cousin marriage and recessive inheritance) leads to confusion among families. Further, the realisation that couples in non-consanguineous relationships have affected children leads to mistrust of professional advice. British Pakistani families at-risk for recessive disorders lack an understanding of recessive disorders and their inheritance. Such an understanding is empowering and can be shared within the extended family to enable informed choice. In a three-site qualitative study of British Pakistanis, we explored family and health professional perspectives on recessively inherited conditions. Our findings suggest, firstly, that family networks hold strong potential for cascading genetic information, making the adoption of a family-centred approach an efficient strategy for this community. However, this is dependent on provision of high-quality and timely information from health care providers. Secondly, families' experience was of ill-coordinated and time-starved services, with few having access to specialist provision from Regional Genetics Services; these perspectives were consistent with health professionals' views of services. Thirdly, we confirm previous findings that genetic information is difficult to communicate and comprehend, further complicated by the need to communicate the relationship between cousin marriage and recessive disorders. A communication tool we developed and piloted is described and offered as a useful resource for communicating complex genetic information.

  5. Good Mental Health

    Science.gov (United States)

    ... and to address the stigma associated with mental health. It provides information on the signs and symptoms of mental illness and solutions for preventing and coping with mental illness. Insomnia Fact Sheet - This fact sheet provides information on ...

  6. Mental Methods in Mathematics.

    Science.gov (United States)

    French, Doug

    1987-01-01

    Choosing mental, written, or calculator procedures is important for children to learn. Children should be encouraged to be flexible and consider alternatives when doing mental calculation. Developing mental skills, symbols and rules, and numbers in context are each considered. (MNS)

  7. Teen Mental Health

    Science.gov (United States)

    ... worthless could be warning signs of a mental health problem. Mental health problems are real, painful, and sometimes severe. You ... things that could harm you or others Mental health problems can be treated. To find help, talk ...

  8. Mental Labels and Tattoos

    Science.gov (United States)

    Hyatt, I. Ralph

    1977-01-01

    Discusses the ease with which mental labels become imprinted in our system, six basic axioms for maintaining negative mental tattoos, and psychological processes for eliminating mental tattoos and labels. (RK)

  9. Disease: H00803 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00803 Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance... (SESAME) ; SeSAME/EAST syndrome Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance...deficit, and electrolyte imbalance. This disease links to autosomal recessive mut

  10. What Is Mental Illness: Mental Illness Facts

    Science.gov (United States)

    ... children. Mental illness usually strike individuals in the prime of their lives, often during adolescence and young ... Illness page. Get more Mental Illness: Facts and Numbers from NAMI's Fact Sheet . Back

  11. Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment.

    Science.gov (United States)

    Angelini, C; Bresolin, N; Pegolo, G; Bet, L; Rinaldo, P; Trevisan, C; Vergani, L

    1986-08-01

    The son of third cousins was normal until age 2 when he had difficulty walking. At age 8 there was limb weakness, ataxia, loss of tendon reflexes, dislalia, and he was mildly retarded. During fasting, urinary organic acid excretion was abnormally high. Cytochrome c oxidase activity in muscle was 7% of the normal mean. The enzyme in platelets was 16% of controls with a decreased cytochrome aa3 peak. These data suggest an autosomal recessive transmission of this variant of cytochrome c oxidase deficiency.

  12. e mental

    Directory of Open Access Journals (Sweden)

    Luciana Maria Viviani

    2006-01-01

    Full Text Available This article deals with the history of Educational Biology (1933-1970 taking into account the development of this discipline in the Normal Schools in São Paulo (Brazil. The investigation is based on several kinds of documents, mainly teaching plans, programs, schoolbooks and testimonies from former teachers. It considers the projects for schools renovation developed since the 1920’s, as they produced certain kind of needs for the teacher education. It examines three periods of that history: the insertion of the discipline in the curriculum, its stability and decline. The focus is on the organization of the school subjects built by the pair heritage-environment. The conclusion is that the organization of this Educational Biology was based in the idea that the educators should act in a double productive way: in one side, to direct the students for the best physical and mental efficiency; in the other, to build ideal outlines for shape the children, women and teachers’s social behavior.

  13. Positive mental health and mental illness.

    Science.gov (United States)

    Gilmour, Heather

    2014-09-01

    Based on the Mental Health Continuum Short Form administered in the 2012 Canadian Community Health Survey - Mental Health (CCHS-MH), the percentages of Canadians aged 15 or older classified as having flourishing, moderate or languishing mental health were 76.9%, 21.6% and 1.5%, respectively. Compared with estimates for other countries, a higher percentage of Canadians were flourishing. In accordance with the complete mental health model, mental health was also assessed in combination with the presence or absence of mental illness (depression; bipolar disorder; generalized anxiety disorder; alcohol, cannabis or other drug abuse or dependence). An estimated 72.5% of Canadians (19.8 million) were classified as having complete mental health; that is they were flourishing and did not meet the criteria for any of the six past 12-month mental or substance use disorders included in the CCHS-MH. Age, marital status, socio-economic status, spirituality and physical health were associated with complete mental health. Men and women were equally likely to be in complete mental health. PMID:25229895

  14. Inhibition: Mental Control Process or Mental Resource?

    Science.gov (United States)

    Im-Bolter, Nancie; Johnson, Janice; Ling, Daphne; Pascual-Leone, Juan

    2015-01-01

    The current study tested 2 models of inhibition in 45 children with language impairment and 45 children with normally developing language; children were aged 7 to 12 years. Of interest was whether a model of inhibition as a mental-control process (i.e., executive function) or as a mental resource would more accurately reflect the relations among…

  15. Women and Mental Health

    Science.gov (United States)

    ... experience symptoms of mental disorders at times of hormone change, such as perinatal depression , premenstrual dysphoric disorder, and perimenopause-related depression. When it comes to other mental disorders such as schizophrenia and bipolar disorder , research has not found differences ...

  16. Mental Health and HIV

    Science.gov (United States)

    ... Z) Hepatitis HIV Mental Health Mental Health Home Suicide Prevention Substance Abuse Military Sexual Trauma PTSD Research (MIRECC) Military Exposures Polytrauma Rehabilitation Spinal Cord Injury Telehealth Womens Health Issues Wellness Programs MyHealtheVet Nutrition Quitting Smoking ...

  17. Hepatitis C: Mental Health

    Science.gov (United States)

    ... Z) Hepatitis HIV Mental Health Mental Health Home Suicide Prevention Substance Abuse Military Sexual Trauma PTSD Research (MIRECC) Military Exposures Polytrauma Rehabilitation Spinal Cord Injury Telehealth Womens Health Issues Wellness Programs MyHealtheVet Nutrition Quitting Smoking ...

  18. Sjogren-Larsson syndrome: A rare neurocutaneous disorder

    Directory of Open Access Journals (Sweden)

    Velusamy Subramanian

    2016-01-01

    Full Text Available Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase. It presents as a triad of congenital ichthyosis, spastic diplegia, and mental retardation. The pathology behind this syndrome is the failure of degradation of fatty aldehydes. This case is presented for its rarity.

  19. Sjogren-Larsson syndrome: A rare neurocutaneous disorder.

    Science.gov (United States)

    Subramanian, Velusamy; Hariharan, Praveen; Balaji, J

    2016-01-01

    Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase. It presents as a triad of congenital ichthyosis, spastic diplegia, and mental retardation. The pathology behind this syndrome is the failure of degradation of fatty aldehydes. This case is presented for its rarity.

  20. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.

    NARCIS (Netherlands)

    G. Weeda (Geert); E. Eveno; I. Donker (Ingrid); W. Vermeulen (Wim); O. Chevalier-Lagente (Odile); A. Taieb; A. Stary; J.H.J. Hoeijmakers (Jan); M. Mezzina; A. Sarasin

    1997-01-01

    textabstractTrichothiodystrophy (TTD) is a rare, autosomal recessive disorder characterized by sulfur-deficient brittle hair and nails, mental retardation, impaired sexual development, and ichthyosis. Photosensitivity has been reported in approximately 50% of the cases, but no skin cancer is associa

  1. Disease: H00940 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available 7.8 OMIM: 216550 PMID:11477603 (description) Kivitie-Kallio S, Norio R Cohen syndrome: essential features, n...H00940 Cohen syndrome Cohen syndrome is an autosomal recessive disorder with a broa...d phenotypic spectrum. Essential symptoms include mental retardation, progressive postnatal microcephaly, ty

  2. Joubert Syndrome - A Case Report

    Directory of Open Access Journals (Sweden)

    Bandichhode S. T.

    2013-07-01

    Full Text Available Joubert syndrome is a very rare malformation.It is estimated to affect between 1 in 80,000and 1 in 100,000 newborns.Joubert syndromeis an autosomal recessive disorder marked byagenesis of cerebellar vermis, ataxia, hypoto-nia, oculomotor apraxia, neonatal breathingproblems and mental retardation.

  3. Epilepsy and Spinocerebellar Ataxia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-07-01

    Full Text Available A large consanguinous family from Saudi Arabia with 4 affected children presenting with an autosomal recessive ataxia, generalized tonic-clonic epilepsy and mental retardation is reported from the Institut de Genetique, Universite Louis Pasteur, Illkirch, France; Division of Pediatric Neurology, King Saud University, Riyadh, Saudi Arabia; and other centers.

  4. Mental toughness in soccer

    DEFF Research Database (Denmark)

    Diment, Gregory Michael

    2014-01-01

    In the past decade mental toughness has been discussed as a significant factor in performance in elite sport. Few studies have explored mental toughness from a behavioral perspective, and no comprehensive lists of mental toughness behaviors have been developed. The aim of the study was to produce...... a systematic observation checklist of mental toughness behavior in professional soccer. Consistent with existing studies, the results created a systematic observation instrument containing 15 mental toughness behaviors. Practical implications include goal-setting, game analysis and self-modeling interventions...

  5. [Mental illness and media].

    Science.gov (United States)

    Magli, Erica; Buizza, Chiara; Pioli, Rosaria

    2004-06-01

    Many knowledges on the mental disease that the community possesses are turning out of information disclosed from the media. It's common in the press to connect actions of violence and murders to the mental diseases. For this reason, the reader is induced to infer that murders and other violent actions are more frequent in people who have suffered from mentally ill, than in the general population. The mystifying impression provided by media accrues from the fact that these reports are rarely compensated from positive reports. Objective of the present study is to characterize the type of information concerning mental illness diffused from the local daily paper "Giornale di Brescia" in the year 2001. The results show that many articles connote negatively the mental disease. The journalistic sensationalism, denounced facing the speech of the prejudgment in the comparisons of the mentally ill people, seems to still remain, in the considered year of publication, one unchanging tendency. PMID:15248412

  6. Mental Roots of Terror

    OpenAIRE

    Saruhan, Müfit Selim

    2004-01-01

    In this article, I deal with mental and terror relationship. Mental roots of terror are being examined. Religion has nothing to do with terrorism. Terrorist tries to misuse religion. Mental with prejudice and lack of knowledge occupies the personality of individual and his ability to judge. Purification of mind from any external and internal prejudices is the unique solution of terrorism. Only within extensive education we can overcome terrorism. Terrorism could not apply to a religion or a n...

  7. Crime and Mental Wellbeing

    OpenAIRE

    Cornaglia, Francesca; Feldman, Naomi E.; Leigh, Andrew

    2014-01-01

    We provide empirical evidence of crime's impact on the mental wellbeing of both victims and non-victims. We differentiate between the direct impact to victims and the indirect impact to society due to the fear of crime. The results show a decrease in mental wellbeing after violent crime victimization and that the violent crime rate has a negative impact on mental wellbeing of non-victims. Property crime victimization and property crime rates show no such comparable impact. Finally, we estimat...

  8. Disaster mental health

    DEFF Research Database (Denmark)

    Henderson, Silja; Berliner, Peter; Elsass, Peter

    2015-01-01

    In this chapter we focus on disaster mental health, particularly theoretical and research-based implications for intervention. The field of disaster mental health research is vast and impossible to cover in a single chapter, but we will visit central research, concepts, and understandings within...... disaster mental health and intervention, and refer to further literature where meaningful. We conclude the chapter with recommendations for further research....

  9. GENETIC DETERMINATIONS OF MENTALITY

    OpenAIRE

    Osadcha, L. V.

    2015-01-01

    Purpose. The article is devoted to clarifying the role of physicality and psycho-physical characteristics of a person as a preconditions of the mentality forming. It is conducted a retrospective analysis of discourse on the mentality, the history of the concept, its temporal characteristics and collective conditioning. The concept of mentality has been widely studied in various fields of socio-humanities such as: history, psychology, and even marginal context of scientific discourses, includi...

  10. Mental hospitals in India.

    Science.gov (United States)

    Krishnamurthy, K; Venugopal, D; Alimchandani, A K

    2000-04-01

    This review traces the history of the mental hospital movement, initially on the world stage, and later in India, in relation to advances in psychiatric care. Mental hospitals have played a significant role in the evolution of psychiatry to its present statusThe earliest hospital in India were established during the British colonial rule. They served as a means to isolate mentally ill persons from the societal mainstream and provide treatments that were in vogue at the time. Following India's independence, there has been a trend towards establishing general hospital psychiatry units and deinstitutionalization, while at the same time improving conditions in the existing mental hospitals.Since 1947, a series of workshops of superintendents was conducted to review the prevailing situations in mental hospitals and to propose recommendations to improve the same. Implementation of the Mental Health Act, 1987, and grovernmental focus upon mental hospital reform have paved way for a more specific and futuristic role for mental hospitals in planning psychiatric services for the new millenium, especially for severe mental illnesses. PMID:21407925

  11. Flexible Mental Calculation.

    Science.gov (United States)

    Threlfall, John

    2002-01-01

    Suggests that strategy choice is a misleading characterization of efficient mental calculation and that teaching mental calculation methods as a whole is not conducive to flexibility. Proposes an alternative in which calculation is thought of as an interaction between noticing and knowledge. Presents an associated teaching approach to promote…

  12. Mental Health and Conflict

    OpenAIRE

    Baingana, Florence

    2003-01-01

    Addressing mental health is gradually being recognized as an important development issue, especially in the case of conflict-affected countries. Although mental health issues have received increased attention in post-conflict settings, there has been a tendency to implicitly assume that the impact of trauma caused by mass violence (i) may be transitory and non-disabling, and (ii) that inte...

  13. Mental scars of racism.

    Science.gov (United States)

    Leiba, Tony

    The over-representation of black and minority ethnic (BME) people in mental health services may reflect their exposure to overt and covert racism, which acts as a 'chronic stressor'. Mental health professionals can help by building positive relationships with their BME patients.

  14. Women and mental health

    OpenAIRE

    Unaiza Niaz

    2016-01-01

    Issues related to the mental health of women are a priority these days. Many international organisations working in the field of psychiatry are having sections on it now. This approach can go a long way in the improvement of the available mental health services for this population.

  15. Women and mental health

    Directory of Open Access Journals (Sweden)

    Unaiza Niaz

    2016-07-01

    Full Text Available Issues related to the mental health of women are a priority these days. Many international organisations working in the field of psychiatry are having sections on it now. This approach can go a long way in the improvement of the available mental health services for this population.

  16. Developing a Mental Timeline.

    Science.gov (United States)

    Nesbitt, Donna

    1998-01-01

    Argues that mental timelines for learning history are analogous to mental mapping for learning geography: both visually represent abstract concepts. Describes the construction of a classroom timeline and activities for fifth- and sixth-grade students that incorporate the use of timelines. Notes reasonable expectations for student progress at this…

  17. Rural Mental Health

    Science.gov (United States)

    ... disorders. What are some of the benefits of integration of mental health services into primary care in a rural community? ... benefits both the patient and the provider. The integration, or even the co-location, of mental health services with primary care services can also help ...

  18. Evidence in mental health.

    Science.gov (United States)

    Weeks, Susan Mace

    2014-12-01

    Health practitioners wishing to positively improve health outcomes for their clients have access to a unique set of collated tools to guide their practice. Systematic reviews provide guidance in the form of synthesized evidence that can form the basis of decision making as they provide care for their clients. This article describes systematic reviews as a basis for informed decision making by mental health practitioners. The process of systematic review is discussed, examples of existing systematic review topics relevant to mental health are presented, a sample systematic review is described, and gaps and emerging topics for mental health systematic reviews are addressed.

  19. Hereditary Parkinson s Disease Natural History Protocol

    Science.gov (United States)

    2016-08-31

    Parkinson Disease 6, Early-Onset; Parkinson Disease (Autosomal Recessive, Early Onset) 7, Human; Parkinson Disease Autosomal Recessive, Early Onset; Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1

  20. Mentalization and social understanding

    DEFF Research Database (Denmark)

    Køster, Allan

    2015-01-01

    Recently, mentalization theory (Fonagy, Bateman) has risen to fame as a theoretical framework emphasizing social cognition as a key issue in its approach to psychotherapy and psychopathology. In this paper, I review and criticise the social-ontological assumptions made by mentalization theory......, the works of Merleau-Ponty, as well as contemporary phenomenology and enactivism (S. Gallagher, D. Hutto etc.). Since mentalization theory was originally developed as a framework for understanding Borderline Personality Disorder, the article furthermore offers a reinterpretation of the issue of social...... cognition reported in BPD through the lens of the alternative framework. Contrary to the received view, the article suggest that issues of social cognition in BPD should perhaps not be seen as primarily a lack of, or inability to mentalize, but rather as a hyper-sensitivity to the expressive dimension...

  1. What Is Mental Health?

    Science.gov (United States)

    ... What To Look For Anxiety Disorders Behavioral Disorders Eating Disorders Mental Health and Substance Use Disorders Mood Disorders ... Experiencing severe mood swings that cause problems in relationships Having persistent thoughts and memories you can’t ...

  2. Mental Health for Men

    Science.gov (United States)

    ... abuse Anxiety disorders and PTSD Body image and eating disorders Depression Sexual health for men Urinary health for men ... abuse Anxiety disorders and PTSD Body image and eating disorders Depression Other mental health conditions include bipolar disorder , schizophrenia , ...

  3. Women's Mental Health

    Science.gov (United States)

    ... a group that has the same age, race, religion, cultural background as you, or one that speaks ... mental health problems, like depression or having a history of trauma or abuse. If you or someone ...

  4. Caring for Mental Disease

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    Government increases the funding for treating the mentally ill following cases of uncontrollable violence The Ministry of Health plans to renovate or expand 550 psychiatric hospitals and psychiatric departments

  5. Mental Illness Statistics

    Science.gov (United States)

    ... Cost Global More Prevalence Disability Suicide Cost Global Statistics Understanding the scope of mental illnesses and their ... those affected receive treatment. The information on these statistics pages includes the best statistics currently available on ...

  6. Mental Mapping: A Classroom Strategy

    Science.gov (United States)

    Solomon, Les

    1978-01-01

    Examines potential uses of mental maps in the classroom by reviewing research efforts, providing an example of the differences between mental maps of two student groups, and suggesting how to use mental maps in the geography curriculum. Mental mapping (or cognitive mapping) refers to individuals' processes of collecting, storing, and retrieving…

  7. The Stigma of Mental Illness

    Science.gov (United States)

    Overton, Stacy L.; Medina, Sondra L.

    2008-01-01

    Stigma surrounding major mental illness creates many barriers. People who experience mental illness face discrimination and prejudice when renting homes, applying for jobs, and accessing mental health services. The authors review the current literature regarding stigma and mental illness. They define stigma and review theories that explain its…

  8. Coagulation and Mental Disorders

    Directory of Open Access Journals (Sweden)

    Silvia Hoirisch-Clapauch

    2014-10-01

    Full Text Available The neurovascular unit is a key player in brain development, homeostasis, and pathology. Mental stress affects coagulation, while severe mental illnesses, such as recurrent depression and schizophrenia, are associated with an increased thrombotic risk and cardiovascular morbidity. Evidence indicates that the hemostatic system is involved to some extent in the pathogenesis, morbidity, and prognosis of a wide variety of psychiatric disorders. The current review focuses on emerging data linking coagulation and some psychiatric disorders.

  9. Coagulation and Mental Disorders

    OpenAIRE

    Silvia Hoirisch-Clapauch; Antonio Egidio Nardi; Jean-Christophe Gris; Benjamin Brenner

    2014-01-01

    The neurovascular unit is a key player in brain development, homeostasis, and pathology. Mental stress affects coagulation, while severe mental illnesses, such as recurrent depression and schizophrenia, are associated with an increased thrombotic risk and cardiovascular morbidity. Evidence indicates that the hemostatic system is involved to some extent in the pathogenesis, morbidity, and prognosis of a wide variety of psychiatric disorders. The current review focuses on emerging data linking ...

  10. Violence and Mental Illness

    OpenAIRE

    2008-01-01

    Violence attracts attention in the news media, in the entertainment business, in world politics, and in countless other settings. Violence in the context of mental illness can be especially sensationalized, which only deepens the stigma that already permeates our patients’ lives. Are violence and mental illness synonymous, connected, or just coincidental phenomena? This article reviews the literature available to address this fundamental question and to investigate other vital topics, includi...

  11. Valuing mental health staff.

    Science.gov (United States)

    2016-09-21

    Ben Thomas is the mental health, learning disabilities and dementia care professional officer at the Department of Health (DH). He has held senior clinical, academic and management posts in England and Australia, and was a director of nursing. Before working at the DH, Ben was head of mental health and learning disabilities at the National Patient Safety Agency. He is a member of the RCNi editorial board. PMID:27654559

  12. Topology and mental processes.

    Science.gov (United States)

    McLeay, H

    2000-08-01

    The study reported here considers the effect of rotation on the decision time taken to compare nonrigid objects, presented as like and unlike pairs of knots and unknots. The results for 48 subjects, 21 to 45 years old, support the notion that images which have a characteristic 'foundation part' are more easily stored and accessed in the brain. Also, there is evidence that the comparison of deformable objects is processed by mental strategies other than self-evident mental rotation.

  13. Mental sundhed i skolen

    DEFF Research Database (Denmark)

    Wistoft, Karen; Grabowski, Dan

    Denne rapport sætter fokus på børn og unges mentale sundhed. Skolen kan gøre en forskel ved at skabe rammerne for en mental sundhedsfremmende skole, der tænker sundhedsbegrebet bredt. Men skolen bør ikke stå alene med ansvaret og derfor er der behov for en samlet strategi. En mentalt sundhedsfrem...

  14. Mental states in communication

    OpenAIRE

    Tirassa, Maurizio

    1997-01-01

    Abstract. This paper is concerned with the mental processes involved in intentional communication. I describe an agent's cognitive architecture as the set of cognitive dynamics (i.e., sequences of mental states with contents) she may entertain. I then describe intentional communication as one such specific dynamics, arguing against the prevailing view that communication consists in playing a role in a socially shared script. The cognitive capabilities needed for such dynamics are midreading (...

  15. Mental health informatics

    CERN Document Server

    Song, Insu; Yellowlees, Peter; Diederich, Joachim

    2014-01-01

    This book introduces approaches that have the potential to transform the daily practice of psychiatrists and psychologists. This includes the asynchronous communication between mental health care providers and clients as well as the automation of assessment and therapy. Speech and language are particularly interesting from the viewpoint of psychological assessment. For instance, depression may change the characteristics of voice in individuals and these changes can be detected by a special form of speech analysis. Computational screening methods that utilise speech and language can detect subtle changes and alert clinicians as well as individuals and caregivers. The use of online technologies in mental health, however, poses ethical problems that will occupy concerned individuals, governments and the wider public for some time. Assuming that these ethical problems can be solved, it should be possible to diagnose and treat mental health disorders online (excluding the use of medication).

  16. Mindfulness og mental sundhed

    DEFF Research Database (Denmark)

    Wistoft, Karen

    2011-01-01

    Mindfulness is a way to practice 'healthy mindedness' – a form of self help that has been the subject for research and development of a number of new significant self-technologies, therapy and meditation treatment methods. To be mindful can help people to feel more relaxed (serenity) and fully...... alive. The article aims at describing realistic expectations to the contribution of mindfulness to health education work in the field of mental health. The article discuss ways in which mindfulnesss is connected with established health education in the mental health promotion field, and ways in which...... mindfulness breaks with established health education. Interest in utilising mindfulness and mindfulness-inspired methods in health-education intervention has increased in recent years. Mindfulness is seen here as an answer to how to achieve more accepting presence, and thereby a healthier mental life...

  17. Comparative Healthcare: Mental health.

    Directory of Open Access Journals (Sweden)

    Dr. Elizabeth Cottrell

    2009-01-01

    Full Text Available AbstractIn the fourth in this series of ‘comparative healthcare’ medical practitioners explore the approach to mentalillness in Bangladesh and the UK respectively. Differences and similarities in treatment regimens are illustratedwith reference to patients with varying degrees of mental illness. Mental illness poses the greatest challenge inhealth care as national investment in services often reflects cultural attitudes and norms. While the authorsdescribe very similar approaches to the diagnosis and management of severe psychotic illness there are strikingdifferences in the availability of support services for people with substance abuse and those with relapsingconditions. The involvement and co-operation of the family is particularly important in Bangladesh wherecomprehensive access to mental health services is very limited. Private alcohol and drug detoxification centresare available although many are expensive and such treatment may effectively be denied to all but the wealthiestpeople. In the UK all people with serious and enduring mental illness are entered onto a register and thereforeflagged for follow up at least once a year. General Practitioners, working within the nationally funded healthservice have been remunerated since 2003 for maintaining the register. In contrast in the absence of a casemanagementbased psychiatric follow-up framework in Bangladesh, a general practitioner and treatingpsychiatrist would need to formulate a management plan involving recognition of clinical warning signs by thefamily. Indeed the co-operation and support of the patient’s family is of paramount importance in maintainingoutpatient appointments when supporting people with mental health problems in Bangladesh. Finally weemphasise that the views expressed are those of the authors and do not necessarily reflect health policy orpractice in their respective countries. Nonetheless we believe they offer a valuable perspective on mental healthissues and

  18. Trastorno mental transitorio

    Directory of Open Access Journals (Sweden)

    Alvaro Burgos Mata

    2001-03-01

    Full Text Available A mannera de planteamiento teorico se nos llama a considrara el mantenimiento de la distincion existente entre anomalias psiquicas y el Trastorno Mental Transitorio, pues se considera desactualizada la existencia de enfermedades pasajeras y en cambio se insiste en el matis de permanencia que existe en las enfermedades que solo a veces tienen menifestaciones.As a theorical plan, we are called to reflect on the maintenance of the distinction made between psychic anomalies and the transitory mental disorder, because the existence of temporal diseases has been surpassed y and now it is insisted on the permanency of diseases which are occassionally manifested.

  19. Deconstructing Mental Rotation

    DEFF Research Database (Denmark)

    Larsen, Axel

    2014-01-01

    A random walk model of the classical mental rotation task is explored in two experiments. By assuming that a mental rotation is repeated until sufficient evidence for a match/mismatch is obtained, the model accounts for the approximately linearly increasing reaction times (RTs) on positive trials......, flat RTs on negative trials, false alarms and miss rates, effects of complexity, and for the number of eye movement switches between stimuli as functions of angular difference in orientation. Analysis of eye movements supports key aspects of the model and shows that initial processing time is roughly...

  20. Issues in Mental Health Counseling with Persons with Mental Retardation.

    Science.gov (United States)

    Prout, H. Thompson; Strohmer, Douglas C.

    1998-01-01

    Reviews mental-health issues concerning persons with mental retardation, particularly as these issues apply to mental-health counseling. Included in this review is a discussion of the prevalence of psychopathology, types of problems presented, issues in clinical bias, access to community services, assessment techniques, and specific…

  1. School Mental Health Resources and Adolescent Mental Health Service Use

    Science.gov (United States)

    Green, Jennifer Greif; McLaughlin, Katie A.; Alegria, Margarita; Costello, E. Jane; Gruber, Michael J.; Hoagwood, Kimberly; Leaf, Philip J.; Olin, Serene; Sampson, Nancy A.; Kessler, Ronald C.

    2013-01-01

    Objective: Although schools are identified as critical for detecting youth mental disorders, little is known about whether the number of mental health providers and types of resources that they offer influence student mental health service use. Such information could inform the development and allocation of appropriate school-based resources to…

  2. Mental Health Treatement Facilities Locator

    Data.gov (United States)

    U.S. Department of Health & Human Services — An online resource for locating mental health treatment facilities and programs supported by the Substance Abuse and Mental Health Services Administration (SAMHSA)....

  3. Mental health and healthy lifestyle

    OpenAIRE

    Busch, Markus; Hapke, Ulfert; Mensink, Gert

    2011-01-01

    This issue focuses on mental health and the connection with a healthy lifestyle. Data of the German Health Update 2009 (GEDA) show at last that a healthy lifestyle leads to less mental impairments (e.g. depression).

  4. Lifestyle and Mental Health

    Science.gov (United States)

    Walsh, Roger

    2011-01-01

    Mental health professionals have significantly underestimated the importance of lifestyle factors (a) as contributors to and treatments for multiple psychopathologies, (b) for fostering individual and social well-being, and (c) for preserving and optimizing cognitive function. Consequently, therapeutic lifestyle changes (TLCs) are underutilized…

  5. Mental sundhed i skolen

    DEFF Research Database (Denmark)

    Wistoft, Karen

    Baggrund: Skolebørns opfattelse af sundhed har i høj grad noget med deres selvbilleder, trivsel og sociale inklusion at gøre. Det viser en lang række nyere undersøgelser, der alle peger på, at det er nødvendigt at skærpe opmærksomheden på børn og unges mentale sundhed. Internationalt er der...... udviklet og afprøvet en række pædagogiske programmer, der kan bruges til at igangsætte aktiviteter, der fremmer børn og unges mentale sundhed i skolen. Især i USA, Australien og Storbritannien har der været fokus på evidensbaseret praksis og praksisbaseret evidens i denne sammenhæng. I Danmark har man ikke...... på sammen måde tilgængelig systematiseret viden herom. Sundhedsstyrelsen har gennem de senere år prioriteret indsatser og fremskrivning af evidensgrundlag til fremme af mental sundhed højt. Betydningen af børns mentale sundhed og overvejelser om, hvilken slags evidens der er behov for på dette område...

  6. Caring for Mental Disease

    Institute of Scientific and Technical Information of China (English)

    LI LI

    2010-01-01

    @@ The Ministry of Health plans to renovate or expand 550 psychiatric hospitals and psychiatric departments in comprehensive hospitals across the country within two years,said Vice Minister Yin Li.It's part of the country's latest effort to combat the growing problem of mental illness.

  7. Recovery from mental illness

    DEFF Research Database (Denmark)

    Petersen, Kirsten Schultz; Friis, Vivi Soegaard; Haxholm, Birthe Lodahl;

    2015-01-01

    Mental health services strive to implement a recovery-oriented approach to rehabilitation. Little is known about service users' perception of the recovery approach. The aim is to explore the service user's perspectives on facilitators and barriers associated with recovery. Twelve residents living...

  8. Mental status testing

    Science.gov (United States)

    ... Search Search MedlinePlus GO GO About MedlinePlus Site Map FAQs Contact Us Health Topics Drugs & Supplements Videos & Tools Español You Are Here: Home → Medical Encyclopedia → Mental status testing URL of this page: //medlineplus.gov/ ...

  9. Incompatibility and Mental Fatigue

    Science.gov (United States)

    Herzog, Thomas R.; Hayes, Lauren J.; Applin, Rebecca C.; Weatherly, Anna M.

    2011-01-01

    A straightforward prediction from attention restoration theory is that the level of incompatibility in a person's life should be positively correlated with that person's level of mental (or directed attention) fatigue. The authors tested this prediction by developing a new self-report measure of incompatibility in which they attempted to isolate…

  10. Mental health screening in jails

    OpenAIRE

    Gagnon, Nathalie C.

    2009-01-01

    More than seven million individuals were admitted to North American jails in 2007, many with a serious mental disorder. Mentally disordered inmates are at an increase risk for self-harm and suicide, victimization and institutional disruption. The large number of mentally disordered inmates and the limited resources available in correctional settings make the proper identification of mentally disordered inmates difficult but critical. Legal and professional standards require jails to screen ev...

  11. National Institute of Mental Health

    Science.gov (United States)

    ... September More Headed Back to School? Add some mental health education to your agenda. Learn about how mental conditions ... the Office for Research on Disparities and Global Mental Health, which focus on training, research, and methodology. More Men’s Health Month Did ...

  12. What Is Infant Mental Health?

    Science.gov (United States)

    Osofsky, Joy D.; Thomas, Kandace

    2012-01-01

    Unfortunately, the term "infant mental health" can be confusing for some people because it may be understood as translating into "mental illness." Others may not appreciate that babies and toddlers have the capacity to experience complex emotions. The Guest Editors of this issue of the Journal explore the meaning of infant mental health.

  13. Cannabis use and mental health

    NARCIS (Netherlands)

    van Gastel, W.A.

    2013-01-01

    Cannabis use has been implicated as a risk factor for mental health problems, (subclinical) psychotic symptoms in particular. If cannabis use was a cause of these problems, cessation would lead to improved public mental health. If cannabis use was a mere consequence of a predisposition for mental he

  14. Microcefalia primária autossômica recessiva em três famílias pernambucanas: aspectos clínicos e moleculares Autosomal recessive primary microcephaly in three families from Pernambuco: clinical and molecular aspects

    OpenAIRE

    Leal, Gabriela F.

    2005-01-01

    OBJETIVOS: descrever os aspectos clínicos de três famílias pernambucanas com microcefalia primária autossômica recessiva e as análises de ligação em uma delas (família 2). MÉTODOS: três famílias consangüíneas pernambucanas, não relacionadas biologicamente, com microcefalia primária, foram estudadas. Os heredogramas e a história clínica dos afetados foram construídos com base em informações obtidas de seus pais e outros parentes. O exame físico foi realizado em todos os afetados, seus genitore...

  15. Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa [version 2; referees: 2 approved, 1 approved with reservations

    Directory of Open Access Journals (Sweden)

    Shamsudheen Karuthedath Vellarikkal

    2016-07-01

    Full Text Available Dystrophic epidermolysis bullosa simplex (DEB is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, scarring all over the body and nail dystrophy. DEB can be inherited in a recessive or dominant form and the recessive form of DEB (RDEB is more severe. In the present study, we identify a novel p.G2254fs mutation in COL7A1 gene causing a sporadic case of RDEB by whole exome sequencing (WES. Apart from adding a novel frameshift Collagen VII mutation to the repertoire of known mutations reported in the disease, to the best of our knowledge, this is the first report of a genetically characterized case of DEB from India.

  16. Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa [version 1; referees: 2 approved, 1 approved with reservations

    Directory of Open Access Journals (Sweden)

    Shamsudheen Karuthedath Vellarikkal

    2016-05-01

    Full Text Available Dystrophic epidermolysis bullosa simplex (DEB is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, scarring all over the body and nail dystrophy. DEB can be inherited in a recessive or dominant form and the recessive form of DEB (RDEB is more severe. In the present study, we identify a novel p.G2254fs mutation in COL7A1 gene causing a sporadic case of RDEB by whole exome sequencing (WES. Apart from adding a novel frameshift Collagen VII mutation to the repertoire of known mutations reported in the disease, to the best of our knowledge, this is the first report of a genetically characterized case of DEB from India.

  17. The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region

    DEFF Research Database (Denmark)

    Kozyraki, R; Kristiansen, M; Silahtaroglu, A;

    1998-01-01

    Uptake of vitamin B12 (cyanocobalamin) is facilitated by the cobalamin-binder gastric intrinsic factor (IF), which recognizes a 460-kD receptor, cubilin, present in the epithelium of intestine and kidney. Surface plasmon resonance analysis of ligand-affinity-purified human cubilin demonstrated...... protein undergoing proteolytic processing due to cleavage at a recognition site (Arg7-Glu8-Lys9-Arg) for the trans-Golgi proteinase furin. Using fluorescence in situ hybridization, radiation hybrid mapping, and screening of YAC clones, the human cubilin gene was mapped between the markers D10S1661 and WI...

  18. A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition.

    Science.gov (United States)

    Stockklausner, Clemens; Raffel, Simon; Klermund, Julia; Bandapalli, Obul Reddy; Beier, Fabian; Brümmendorf, Tim H; Bürger, Friederike; Sauer, Sven W; Hoffmann, Georg F; Lorenz, Holger; Tagliaferri, Laura; Nowak, Daniel; Hofmann, Wolf-Karsten; Buergermeister, Rebecca; Kerber, Carolin; Rausch, Tobias; Korbel, Jan O; Luke, Brian; Trumpp, Andreas; Kulozik, Andreas E

    2015-11-01

    The TERT gene encodes for the reverse transcriptase activity of the telomerase complex and mutations in TERT can lead to dysfunctional telomerase activity resulting in diseases such as dyskeratosis congenita (DKC). Here, we describe a novel TERT mutation at position T1129P leading to DKC with progressive bone marrow (BM) failure in homozygous members of a consanguineous family. BM hematopoietic stem cells (HSCs) of an affected family member were 300-fold reduced associated with a significantly impaired colony forming capacity in vitro and impaired repopulation activity in mouse xenografts. Recent data in yeast suggested improved cellular checkpoint controls by mTOR inhibition preventing cells with short telomeres or DNA damage from dividing. To evaluate a potential therapeutic option for the patient, we treated her primary skin fibroblasts and BM HSCs with the mTOR inhibitor rapamycin. This led to prolonged survival and decreased levels of senescence in T1129P mutant fibroblasts. In contrast, the impaired HSC function could not be improved by mTOR inhibition, as colony forming capacity and multilineage engraftment potential in xenotransplanted mice remained severely impaired. Thus, rapamycin treatment did not rescue the compromised stem cell function of TERTT1129P mutant patient HSCs and outlines limitations of a potential DKC therapy based on rapamycin. PMID:26546739

  19. The genocidal mentality

    International Nuclear Information System (INIS)

    Since the dropping of the atomic bombs on Hiroshima and Nagasaki, the world has witnessed the insidious growth of a genocidal system-a constellation of men, weapons, and war-fighting plans which, if implemented, could put an end to life on this planet. In this book, the cast of mind that created and maintains this threat is examined and an alternative, more hopeful direction is suggested. This book draws on the lessons of the Holocaust- and presents a picture of the genocidal mentality. If we are to survive this genocidal mentality must give way to a species self, to a deepened awareness of belonging to a single species. This shift in mind-set would enable us to renounce nuclearism and to envision a genuine human future

  20. The genocidal mentality

    Energy Technology Data Exchange (ETDEWEB)

    Lifton, R.J.; Markusen, E.

    1990-01-01

    Since the dropping of the atomic bombs on Hiroshima and Nagasaki, the world has witnessed the insidious growth of a genocidal system-a constellation of men, weapons, and war-fighting plans which, if implemented, could put an end to life on this planet. In this book, the cast of mind that created and maintains this threat is examined and an alternative, more hopeful direction is suggested. This book draws on the lessons of the Holocaust- and presents a picture of the genocidal mentality. If we are to survive this genocidal mentality must give way to a species self, to a deepened awareness of belonging to a single species. This shift in mind-set would enable us to renounce nuclearism and to envision a genuine human future.

  1. Mindfulness og mental sundhed

    OpenAIRE

    Wistoft, Karen

    2011-01-01

    Mindfulness is a way to practice 'healthy mindedness' – a form of self help that has been the subject for research and development of a number of new significant self-technologies, therapy and meditation treatment methods. To be mindful can help people to feel more relaxed (serenity) and fully alive. The article aims at describing realistic expectations to the contribution of mindfulness to health education work in the field of mental health. The article discuss ways in which mindfulnesss is ...

  2. Postpartum Mental Syndromes

    OpenAIRE

    Seltzer, Allan

    1980-01-01

    Recent evidence suggests that parturition is a precipitating factor against a background of an inherited or acquired host constitution predisposing to emotional disorder. Postpartum mental illness is a spectrum of syndromes ranging from the fairly benign transient “blues” to more severe affective, organic or schizophreniform psychoses. Neuroendocrine factors may be the underlying etiologic agent. Treatment may involve support and reassurance, formal psychotherapy or psychotropic and somatic t...

  3. Stigmatization and mental health

    OpenAIRE

    Gulsum Ozge Doganavsargil Baysal

    2013-01-01

    Stigmatizasyon represent a chronic negative interaction with the environment that most of people with a of diagnosis mental disorders. Different types of stigma may have harmful effects. Poor psychological well being, poor quality of life and poor self esteem are related stigmatization. In this article, definition and mechanism of stigmatization, influenced factors and consequences of stigmatization are reviewed. Stigmatization is a modifiable environmental risk factor. Integrating approaches...

  4. Radiation and mental retardation

    International Nuclear Information System (INIS)

    The editorial comments on a report published by the Radiation Effects Research Foundation in Hiroshima updating information on the induction of mental changes in the light of the revised and more detailed estimate of doses of radiation during pregnancies received by those exposed at Hiroshima and Nagasaki. The estimated risks are little changed. The likelihood of a threshold for exposure during the 16th to 25th week is confirmed-at 700 mGy (with a lower 95% confidence interval of 200 mGy). For the more sensitive time between the eighth to 15th weeks a linear model with no threshold still gives a statistically adequate fit to the data. Now, however, if linear models are tested without the constraint of postulating a threshold of zero, fits are obtained indicating substantial thresholds below which mental retardation would not result. When data on all children are included the maximum likelihood threshold value averages about 250 mGy on the different criteria tested (with mean 95% confidence intervals of 0 and 550 mGy). Or if the analyses exclude five children with conditions that themselves sometimes cause mental retardation a threshold of about 400 mGy is indicated (with mean 95% confidence intervals of 150 and 600 mGy). (author)

  5. New percepts via mental imagery?

    Directory of Open Access Journals (Sweden)

    Fred Walter Mast

    2012-10-01

    Full Text Available We are able to extract detailed information from mental images that we were not explicitly aware of during encoding. For example, we can discover a new figure when we rotate a previously seen image in our mind. However, such discoveries are not really new but just new interpretations. In two recent publications, we have shown that mental imagery can lead to perceptual learning (Tartaglia et al., 2009, 2012. Observers imagined the central line of a bisection stimulus for thousands of trials. This training enabled observers to perceive bisection offsets that were invisible before training. Hence, it seems that perceptual learning via mental imagery leads to new percepts. We will argue, however, that these new percepts can occur only within known models. In this sense, perceptual learning via mental imagery exceeds new discoveries in mental images. Still, the effects of mental imagery on perceptual learning are limited. Only perception can lead to really new perceptual experience.

  6. Light Therapy in Mental Hospitals.

    Science.gov (United States)

    Cormac, H D

    1929-02-01

    The position of actinotherapy in Mental Hospitals in this country is reviewed. An investigation of the results of ultra-violet irradiation in mental disorders at Parkside Mental Hospital is described and it is shown that certain types of the psychoses appear to benefit. The physiological action of actinic rays in relation to mental disorders is discussed and their mode of action on the nervous system suggested. Reference is made to substances which sensitize the body tissues to sunlight and ultra-violet radiation. An allusion is made to glass, penetrable by a portion of the actinic rays, and its uses. The need for ultra-violet ray apparatus in every mental hospital is urged both for treatment of mental and physical conditions and for the study of its action.

  7. Physiotherapy students’ mental health assessment

    OpenAIRE

    Gesouli-Voltyraki –E.; Charisi E.; Papastergiou D.; Κostopoulou S.; Borou A.; Alverti V.; Avlakiotis K.; Spanos S.

    2012-01-01

    Introduction: Educational environment has a serious impact on students’ mental health. Few data are available on mental health of Physiotherapy students. Aim: The purpose of this study was to assess the mental heath of students in a tertiary Physiotherapy Department during the 3rd years of studies. Material and methods: 80 males and females physiotherapy students of the 5th and 6th semester of a tertiary Physiotherapy Department filled in the GHQ-28 questionnaire. Comparisons between groups w...

  8. Evolving society and mental health

    OpenAIRE

    Dipesh Bhagabati; Anil Kumar

    2016-01-01

    Numerous issues related to culture, occupation, gender, caste, and health, to name a few, have faced harshness of society from time immemorial. Reasons are debatable, ranging from somewhat understandable to completely unacceptable. There is no doubt that society is dynamic and it has changed its view on many of the issues with passing time. Mental health is one such issue which society has neglected for quite a long time. Even today, mental health and mentally ill people face stigma and discr...

  9. Nutritional therapies for mental disorders

    OpenAIRE

    Vieira Karen F; Lakhan Shaheen E

    2008-01-01

    Abstract According to the Diagnostic and Statistical Manual of Mental Disorders, 4 out of the 10 leading causes of disability in the US and other developed countries are mental disorders. Major depression, bipolar disorder, schizophrenia, and obsessive compulsive disorder (OCD) are among the most common mental disorders that currently plague numerous countries and have varying incidence rates from 26 percent in America to 4 percent in China. Though some of this difference may be attributable ...

  10. Mental wellbeing in the curriculum

    OpenAIRE

    Burgess, H; Anderson, J.; Westerby, N.

    2009-01-01

    Mental well-being is an issue for all staff and students. Further to the stress that can be triggered by any major life-transition (such as entry to Higher Education), young people in general are vulnerable to mental distress and illness (Nuffield Foundation, 2004), and mature students often have additional pressures, responsibilities and vulnerabilities. Some students will have prior experience of mental ill-health (depression or early psychosis, for example); others will experience difficul...

  11. Neto2 influences on kainate receptor pharmacology and function

    DEFF Research Database (Denmark)

    Han, Liwei; Howe, James; Pickering, Darryl S

    2016-01-01

    to confirm the roles of these domains and to identify all the domains and residues essential for KAR modulation, these results facilitate our understanding of Neto2 modulation at the structural level, which could potentially aid the development of novel therapies for the treatment of diseases...... that are associated with KARs, e.g., epilepsies, non syndromic autosomal recessive mental retardation, schizophrenia and bipolar disorder....

  12. MRI and ¹H-MRS findings of three patients with Sjögren-Larsson syndrome Síndrome de Sjögren-Larsson: achados à ressonância magnética e espectroscopia de prótons em três pacientes

    OpenAIRE

    Mauro Nakayama; Daniel G.F. Távora; Thereza C.L. Alvim; Alexandre C.B. Araújo; Rômulo L Gama

    2006-01-01

    Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. Patients present the classical triad of congenital ichthyosis, mental retardation and spastic di- or tetraplegia. Magnetic resonance imaging (MRI) of the brain usually shows hypomyelination involving the periventricular white matter. Cerebral proton MR spectroscopy (¹H-MRS) reveals a characteristic abnormal lipid peak. We report three...

  13. HOXA1 mutations are not a common cause of Möbius syndrome

    OpenAIRE

    Rankin, Jessica K.; Andrews, Caroline; Chan, Wai-man; Engle, Elizabeth C

    2010-01-01

    The HOXA1-related syndromes result from autosomal recessive truncating mutations in the homeobox transcription factor, HOXA1. Limited horizontal gaze and sensorineural deafness are the most common features; affected individuals can also have facial weakness, mental retardation, autism, motor disabilities, central hypoventilation, carotid artery and/or conotruncal heart defects. Möbius syndrome is also phenotypically heterogeneous, with minimal diagnostic criteria of nonprogressive facial weak...

  14. Cerebellar and cerebral atrophy in trichothiodystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Hye-Kyung; Sargent, Michael A.; Poskitt, Kenneth J. [British Columbia Children' s Hospital, Department of Radiology, Vancouver, BC (Canada); Prendiville, Julie S. [British Columbia Children' s Hospital, Division of Paediatric Dermatology, Department of Paediatrics, Vancouver, BC (Canada)

    2005-10-01

    Trichothiodystrophy is a rare neuroectodermal disorder of autosomal recessive inheritance that is characterized by brittle hair, nail dysplasia, ichthyosis, mental retardation, and gonadal failure. We describe a female patient whose cranial MRI revealed almost total lack of myelination in the supratentorial white matter, which is similar to the previously described cases. In addition, there was progressive cerebellar and cerebral atrophy, which has not been well documented in association with trichothiodystrophy. (orig.)

  15. Marinesco-Sjogren Syndrome With Sensori Neural Deafness And Primary Optic Atrophy

    Directory of Open Access Journals (Sweden)

    Aleem M A

    1999-01-01

    Full Text Available Marinesco-Sjogren syndrome (MSS is a rare genetically determined disorder characterised by bilateral cataract, cerebellar ataxia and mental deficiency. The pattern of inheritance is autosomal recessive but it may be variable. In MSS association of hyperlactacidaemia and hypopyruvicaemia, a defective oxidative phosphorylation in mitochondria, is supposed. We are reporting three patients of MSS along with sensorineural deafness and optic atrophy from a single Indian family.

  16. Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

    OpenAIRE

    Verkerk, Annemieke J. M. H.; Schot, Rachel; Dumee, Belinda; Schellekens, Karlijn; Swagemakers, Sigrid; Bertoli-Avella, Aida M; Lequin, Maarten H.; Dudink, Jeroen; Govaert, Paul; van Zwol, A.L.; Hirst, Jennifer; Wessels, Marja W.; Catsman-Berrevoets, Coriene; Verheijen, Frans W.; de Graaff, Esther

    2009-01-01

    Cerebral palsy due to perinatal injury to cerebral white matter is usually not caused by genetic mutations, but by ischemia and/or inflammation. Here, we describe an autosomal-recessive type of tetraplegic cerebral palsy with mental retardation, reduction of cerebral white matter, and atrophy of the cerebellum in an inbred sibship. The phenotype was recorded and evolution followed for over 20 years. Brain lesions were studied by diffusion tensor MR tractography.

  17. Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review.

    Science.gov (United States)

    al-Hemidan, A I; al-Hazzaa, S A

    1995-03-01

    Richner-Hanhart syndrome (Tyrosinemia Type II) is an autosomal recessive disorder of amino acid metabolism characterized by ocular changes, painful palmoplantar hyperkeratosis, and mental retardation. Serum tyrosine increases due to tyrosine aminotransferase deficiency resulting in the deposition of tyrosine crystals in the cornea and in corneal inflammation. Patients are often misdiagnosed as having herpes simplex keratitis. We report on a child who presented with bilateral keratitis secondary to Tyrosinemia Type II diagnosed as herpes simplex keratitis.

  18. High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

    OpenAIRE

    Renieri, Alessandra; Parri, Veronica; Katzaki, Eleni; Uliana, Vera; Scionti, Francesca; Tita, Rossella; Longo, Ilaria; Boschloo, Renske; Vijzelaar, Raymon; Selicorni, Angelo; Brancati, Francesco; Dallapiccola, Bruno; Zelante, Leopoldo; Hamel, Christian P.; Sarda, Pierre

    2010-01-01

    Abstract Cohen syndrome is a rare clinically variable autosomal recessive disorder characterized by mental retardation, postnatal microcephaly, facial dysmorphisms, ocular abnormalities, and intermittent neutropenia. Mutations in the COH1 gene have been found in patients from different ethnic origins. However, a high percentage of patients has only one or no mutated allele. In order to investigate whether COH1 copy number changes account for missed mutations, we used multiplex liga...

  19. Mental models of radiation

    International Nuclear Information System (INIS)

    Laymen and experts participated in interviews designed to reveal their 'mental models' of the processes potentially causing the miscommunications between experts and the public. We analyzed their responses in terms of an 'expert model' circumscribing scientifically relevant information. From results, there are gaps even between experts. Experts on internal exposure focused mainly on artificial radiation and high level of radiation. Experts on radiation biology focused on medical radiation, level of risk, environmental radiation, and hot springs. Experts on dosimetric performance focused on atomic power generation and needs of radiological protection. It means that even experts, they have interests only on their own specialized field. (author)

  20. Stigmatization and mental health

    Directory of Open Access Journals (Sweden)

    Gulsum Ozge Doganavsargil Baysal

    2013-04-01

    Full Text Available Stigmatizasyon represent a chronic negative interaction with the environment that most of people with a of diagnosis mental disorders. Different types of stigma may have harmful effects. Poor psychological well being, poor quality of life and poor self esteem are related stigmatization. In this article, definition and mechanism of stigmatization, influenced factors and consequences of stigmatization are reviewed. Stigmatization is a modifiable environmental risk factor. Integrating approaches against stigma in treatment may represent cost-effective way to reduce the risk of relapse and poor outcome occasioned by chronic exposure to stigma. [Archives Medical Review Journal 2013; 22(2.000: 239-251

  1. Sterilization of the Mentally Ill and the Mentally Retarded.

    Science.gov (United States)

    National Association of State Mental Health Program Directors, Washington, DC.

    Reported were the results of a survey on the sterilization of the mentally ill and the mentally retarded. Thirty-three states responded to the survey. It was found that 17 states have a sterilization statute, but the existence of the statute was explained not to mean that the procedure was used. Sixteen states responded that they did not have a…

  2. Teaching Mental Abacus Calculation to Students with Mental Retardation

    Science.gov (United States)

    Shen, Hong

    2006-01-01

    The abacus is a calculating tool that has been used in Asia for thousands of years. Mental abacus calculation is a skill in which an abacus image in the mind is used without the actual physical manipulation of the abacus. Using this method, people can perform extremely rapid and accurate mental calculations. Research indicates that abacus training…

  3. Resilience and mental health.

    Science.gov (United States)

    Davydov, Dmitry M; Stewart, Robert; Ritchie, Karen; Chaudieu, Isabelle

    2010-07-01

    The relationship between disease and good health has received relatively little attention in mental health. Resilience can be viewed as a defence mechanism, which enables people to thrive in the face of adversity and improving resilience may be an important target for treatment and prophylaxis. Though resilience is a widely-used concept, studies vary substantially in their definition, and measurement. Above all, there is no common underlying theoretical construct to this very heterogeneous research which makes the evaluation and comparison of findings extremely difficult. Furthermore, the varying multi-disciplinary approaches preclude meta-analysis, so that clarification of research in this area must proceed firstly by conceptual unification. We attempt to collate and classify the available research around a multi-level biopsychosocial model, theoretically and semiotically comparable to that used in describing the complex chain of events related to host resistance in infectious disease. Using this underlying construct we attempt to reorganize current knowledge around a unitary concept in order to clarify and indicate potential intervention points for increasing resilience and positive mental health. PMID:20395025

  4. THE STRUCTURE OF MENTAL STATE

    Directory of Open Access Journals (Sweden)

    Gulshat Tavkil’evna Shavalieva

    2016-02-01

    Full Text Available This article deals with the peculiarities of structural and functional organization of mental states of three age groups’ respondents. Depending on the degree of exposure in primary school children, adolescents, and adults similar in nature mental states, but different in their stability and structure are observed. It was found that children with different levels of mental development of a completely different operating parameters of the states – mental proces-ses, physiological reactivity, feelings and behavior. The specifics of the states and the reliefs showed different levels of mental activity of children of three age groups. The structural and functional organization of mental states to identify the different structures of blocks, their interconnectivity, and they differ in the degree of involvement of the parameters of mental states to each other. Each group revealed a different level of mental activity. The differences in the mechanisms of perception of children of three age groups depending on the level of mental development.The aim is to study the features of mental conditions of «school age» children, their structural and functional organization of the perception of the artistic image «Before the Wedding» picture of the famous Russian artist F.S. Zhuravlev’s «Before the Wedding». Identification of the mechanisms of perception of the image and the features state structures of subjects.Method and methodology of work. Research carried out on the basis of a systematic methodology and the theory of activity developed by Vygotsky, Leontiev, Luria and A. Brushlinskii subject approach, SL Rubinstein and also theoretical principles and provisions of the concept of mental conditions of the person (A.O. Prohorov and concepts of color (J.W. Go-ethe, P.V. Yanshin et al.. The material of the study served as a theoretical analysis of the general and special literature on the perception of color and artistic images

  5. Mental Models: A Robust Definition

    Science.gov (United States)

    Rook, Laura

    2013-01-01

    Purpose: The concept of a mental model has been described by theorists from diverse disciplines. The purpose of this paper is to offer a robust definition of an individual mental model for use in organisational management. Design/methodology/approach: The approach adopted involves an interdisciplinary literature review of disciplines, including…

  6. International Students and Mental Health

    Science.gov (United States)

    Forbes-Mewett, Helen; Sawyer, Anne-Maree

    2016-01-01

    Since the early 2000s, reports of increased rates of mental ill health among young people worldwide have received much attention. Several studies indicate a greater incidence of mental health problems among tertiary students, compared with the general population, and higher levels of anxiety, in particular, among international students compared…

  7. Chronic diseases and mental disorder.

    NARCIS (Netherlands)

    Verhaak, P.F.M.; Heijmans, M.J.W.M.; Peters, L.; Rijken, M.

    2005-01-01

    The aim of this study was to achieve a better understanding of the relationship between chronic medical illness and mental distress. Therefore, the association between chronic medical illness and mental distress was analysed, taking into account the modifying effects of generic disease characteristi

  8. Mental illness in inner London.

    OpenAIRE

    1984-01-01

    From the perspective of general practice, hospital data indicating that the prevalence of mental illness is much higher in inner London than elsewhere in Britain may be misleading. A study in five inner London practices found morbidity patterns for mental disorder similar to those recorded in a national survey.

  9. Teenage Pregnancy and Mental Health

    Directory of Open Access Journals (Sweden)

    Jacqueline Corcoran

    2016-07-01

    Full Text Available This article reviews the intersection between adolescent pregnancy and mental health. The research involving mental health risks for adolescent pregnancy and for parents who are teenagers are discussed. Depression and conduct disorder have emerged with the most attention. Research-based treatment of these disorders in adolescents is presented.

  10. Psychiatric-Mental Health Nursing.

    Science.gov (United States)

    Reighley, Joan

    A description is provided of a course, "Psychiatric-Mental Health Nursing," designed to teach students at Level 3 of a two-year college nursing program about the role of the nurse in a psychiatric setting and about concepts of mental health and psychiatric disorders, using both classroom and clinical instruction. The first section of the course…

  11. What Do Mental Terms Mean?

    Science.gov (United States)

    Moore, Jay

    2010-01-01

    Psychologists and philosophers have long been interested in two questions: (a) What do mental terms mean? and (b) what role do mental terms play in explanations of behavior? In the current sketch I review how mediational neobehaviorism, cognitive psychology, and the radical behaviorism of B. F. Skinner address these questions. In so doing, I seek…

  12. Nutritional Factors Affecting Mental Health

    Science.gov (United States)

    Lim, So Young; Kim, Eun Jin; Kim, Arang; Lee, Hee Jae; Choi, Hyun Jin

    2016-01-01

    Dietary intake and nutritional status of individuals are important factors affecting mental health and the development of psychiatric disorders. Majority of scientific evidence relating to mental health focuses on depression, cognitive function, and dementia, and limited evidence is available about other psychiatric disorders including schizophrenia. As life span of human being is increasing, the more the prevalence of mental disorders is, the more attention rises. Lists of suggested nutritional components that may be beneficial for mental health are omega-3 fatty acids, phospholipids, cholesterol, niacin, folate, vitamin B6, and vitamin B12. Saturated fat and simple sugar are considered detrimental to cognitive function. Evidence on the effect of cholesterol is conflicting; however, in general, blood cholesterol levels are negatively associated with the risk of depression. Collectively, the aims of this review are to introduce known nutritional factors for mental health, and to discuss recent issues of the nutritional impact on cognitive function and healthy brain aging.

  13. Mental health of deaf people.

    Science.gov (United States)

    Fellinger, Johannes; Holzinger, Daniel; Pollard, Robert

    2012-03-17

    Deafness is a heterogeneous condition with far-reaching effects on social, emotional, and cognitive development. Onset before language has been established happens in about seven per 10,000 people. Increased rates of mental health problems are reported in deaf people. Many regard themselves as members of a cultural minority who use sign language. In this Review, we describe discrepancies between a high burden of common mental health disorders and barriers to health care. About a quarter of deaf individuals have additional disabilities and a high probability of complex mental health needs. Research into factors affecting mental health of deaf children shows that early access to effective communication with family members and peers is desirable. Improved access to health and mental health care can be achieved by provision of specialist services with professionals trained to directly communicate with deaf people and with sign-language interpreters. PMID:22423884

  14. Living with Mentally Ill Parent

    Directory of Open Access Journals (Sweden)

    Kadriye Buldukoglu

    2011-12-01

    Full Text Available The present review seeks to identify and analyze qualitative studies that examined experiences of children whose parents have a mental illness. This study reported that children whose parents have a mental illness had some common experiences. These experiences may have negative effects on children’s coping skills, resilience to tough living conditions and ability to maintain their mental health. In spite of these negative conditions, some of these children have much more self-confidence, resilience and independence because of inner development and early maturation. Some effective intervention programs are needed to promote information to children and other family members about mental illness, coping behaviors. Availability of such psychiatric services and nation-wide programs with professionals to deal with these problems should be organized properly to increase quality of life of these children. Furthermore, qualitative researches that explore the experiences of children whose parents with mental illness should also be conducted in our country.

  15. [Anomie and public mental health].

    Science.gov (United States)

    Parales-Quenza, Carlos J

    2008-01-01

    This article uses the concept of anomie for understanding public mental-health issues and constructing strategies aimed at promoting health and preventing disease. Studying anomie involves many definitions and approaches; this article conceptualises anomie as dérréglement or derangement and as a total social fact as its effects and consequences are pervasive across all areas of human experience. The article suggests the pertinence of the concept to public health based on several authors' observations depicting Latin-America as being a set of anomic societies and Colombia as the extreme case. Current definitions of mental health in positive terms (not just as being the absence of mental illness) validate the need for considering anomie as an indicator of public mental health. The article proposes that if anomie expresses itself through rules as basic social structure components, then such rules should also be considered as the point of intervention in promoting mental health.

  16. Nutritional Factors Affecting Mental Health.

    Science.gov (United States)

    Lim, So Young; Kim, Eun Jin; Kim, Arang; Lee, Hee Jae; Choi, Hyun Jin; Yang, Soo Jin

    2016-07-01

    Dietary intake and nutritional status of individuals are important factors affecting mental health and the development of psychiatric disorders. Majority of scientific evidence relating to mental health focuses on depression, cognitive function, and dementia, and limited evidence is available about other psychiatric disorders including schizophrenia. As life span of human being is increasing, the more the prevalence of mental disorders is, the more attention rises. Lists of suggested nutritional components that may be beneficial for mental health are omega-3 fatty acids, phospholipids, cholesterol, niacin, folate, vitamin B6, and vitamin B12. Saturated fat and simple sugar are considered detrimental to cognitive function. Evidence on the effect of cholesterol is conflicting; however, in general, blood cholesterol levels are negatively associated with the risk of depression. Collectively, the aims of this review are to introduce known nutritional factors for mental health, and to discuss recent issues of the nutritional impact on cognitive function and healthy brain aging. PMID:27482518

  17. How to be Brilliant at Mental Arithmetic

    CERN Document Server

    Webber, Beryl

    2010-01-01

    How to be Brilliant at Mental Arithmetic addresses the twin pillars of mental arithmetic - mental recall and mental agility. Mental recall depends on familiarity with number bonds and plenty of opportunity to practise. Mental agility depends more on confidence with the number system and the four operations. Using the worksheets in this book, students will learn about: tens and units; addition, subtraction, multiplication and division; addition shortcuts; product squares; quick recall; number se

  18. Smartphone Applications for Mental Health.

    Science.gov (United States)

    Radovic, Ana; Vona, Pamela L; Santostefano, Antonella M; Ciaravino, Samantha; Miller, Elizabeth; Stein, Bradley D

    2016-07-01

    Many adolescents and adults do not seek treatment for mental health symptoms. Smartphone applications (apps) may assist individuals with mental health concerns in alleviating symptoms or increasing understanding. This study seeks to characterize apps readily available to smartphone users seeking mental health information and/or support. Ten key terms were searched in the Apple iTunes and Google Play stores: mental health, depression, anxiety, schizophrenia, bipolar, trauma, trauma in schools, post traumatic stress disorder (PTSD), child trauma, and bullying. A content analysis of the first 20 application descriptions retrieved per category was conducted. Out of 300 nonduplicate applications, 208 (70%) were relevant to search topic, mental health or stress. The most common purported purpose for the apps was symptom relief (41%; n = 85) and general mental health education (18%; n = 37). The most frequently mentioned approaches to improving mental health were those that may benefit only milder symptoms such as relaxation (21%; n = 43). Most app descriptions did not include information to substantiate stated effectiveness of the application (59%; n = 123) and had no mention of privacy or security (89%; n = 185). Due to uncertainty of the helpfulness of readily available mental health applications, clinicians working with mental health patients should inquire about and provide guidance on application use, and patients should have access to ways to assess the potential utility of these applications. Strategic policy and research developments are likely needed to equip patients with applications for mental health, which are patient centered and evidence based. PMID:27428034

  19. Multidisciplinary mental health teams.

    Science.gov (United States)

    Slade, M; Rosen, A; Shankar, R

    1995-01-01

    This study surveyed current practice amongst 91 Indian and Australian staff working within multidisciplinary mental health teams, looking at leadership skills, conflict resolution and therapeutic abilities. Length of training was associated with management skills, though these skill were more developed by psychiatric nurses and occupational therapists working in community settings. Hospital settings involved less consensual decision-making than community teams. Psychiatric nurses spent most time in clinical work, and occupational therapists were rated as less skilled in the therapeutic activities assessed than any other profession. Psychiatrists and clinical psychologists undertook most research. The activities assessed in this study could be undertaken by a team comprising psychiatrists, psychiatric nurses and social workers, with clinical psychologists employed where possible, especially for research or service evaluation. PMID:8847199

  20. Disaster medicine. Mental care

    International Nuclear Information System (INIS)

    Described are 5 essential comments of view concerning the post-disaster psychiatric care through authors' experience at the aid of the 2011 Tohoku Earthquake and Tsunami including Fukushima Daiichi Nuclear Power Plant Accident. Firstly, at the acute phase of disaster, the ensured safe place, sleep and rest are necessary as a direct aid of sufferers and their family. Insomnia is seen in many of them and can partly be a prodrome of disorders like post traumatic stress disorder (PTSD). US Psychological First Aid (PFA) is useful for a guide of the initial aid for disaster, and translated Japanese version is available free. Public anxiety as a psychological effect can be caused even out of the disaster-stricken area by such factors as on-site news reports (inducing identification), internet information, economical and social confusion, forecasted radiation hazard, etc. Cool-headed understanding is required for them and particularly for complicated radiological information. The system for psychiatric treatment is needed as exemplified by its temporary lack due to the radiation disaster near the Plant and consequent prompt dispatch of psychiatrists from Dokkyo Medical University. Survived sufferers' grief and bereavement are said to tend to last long, to be complicated and deteriorated, indicating the necessity of management of continuous mental health. Alcoholism as a result to avoid those feelings should be noted. Finally, pointed out is the mental care for supporters working for recovery from the disaster, like policeman, Self-Defense Force member, fireman, doctor, nurse, officer, volunteer and many others concerned, because PTSD prevalence is reported to amount to 12.4% of rescue and recovery workers of US World Trade Center Disaster (9.11) even 2-3 years after. (T.T.)

  1. Disaster management: Mental health perspective

    Directory of Open Access Journals (Sweden)

    Suresh Bada Math

    2015-01-01

    Full Text Available Disaster mental health is based on the principles of ′preventive medicine′ This principle has necessitated a paradigm shift from relief centered post-disaster management to a holistic, multi-dimensional integrated community approach of health promotion, disaster prevention, preparedness and mitigation. This has ignited the paradigm shift from curative to preventive aspects of disaster management. This can be understood on the basis of six ′R′s such as Readiness (Preparedness, Response (Immediate action, Relief (Sustained rescue work, Rehabilitation (Long term remedial measures using community resources, Recovery (Returning to normalcy and Resilience (Fostering. Prevalence of mental health problems in disaster affected population is found to be higher by two to three times than that of the general population. Along with the diagnosable mental disorders, affected community also harbours large number of sub-syndromal symptoms. Majority of the acute phase reactions and disorders are self-limiting, whereas long-term phase disorders require assistance from mental health professionals. Role of psychotropic medication is very limited in preventing mental health morbidity. The role of cognitive behaviour therapy (CBT in mitigating the mental health morbidity appears to be promising. Role of Psychological First Aid (PFA and debriefing is not well-established. Disaster management is a continuous and integrated cyclical process of planning, organising, coordinating and implementing measures to prevent and to manage disaster effectively. Thus, now it is time to integrate public health principles into disaster mental health.

  2. Promoting mental health and preventing mental illness in general practice

    OpenAIRE

    Thomas, S.; Jenkins, R; Burch, T.; Nasir, L.C.; Fisher, B; Giotaki, G.; Gnani, S; Hertel, L; Marks, M.; Mathers, N.; Millington-Sanders, C.; D. Morris; Ruprah-Shah, B.; Stange, K.; Thomas, P

    2016-01-01

    This paper calls for the routine integration of mental health promotion and prevention into UK General Practice in order to reduce the burden of mental and physical disorders and the ensuing pressure on General Practice. The proposals & the resulting document (https://ethicscharity. files.wordpress.com/2015/09/rcgp_keymsg_150925_v5.pdf) arise from an expert ‘Think Tank’ convened by the London Journal of Primary Care, Educational Trust for Health Improvement through Cognitive Strategies (ETHIC...

  3. Consanguinity and genetic disorders: Profile from Jordan

    International Nuclear Information System (INIS)

    With 20-30% of all marriages occurring between first cousins, increasing attention in Jordan is now given to role of consanguinity in the occurrence of genetic diseases. The objective of this study is to define the specific categories of genetic disorders associated with consanguineous marriages. Etiological categories and consanguinity rates were studied among 623 families with genetic syndromes, congenital anomalies or mental retardation, or both, seen at the National Center for Diabetes, Endocrinology and Genetics for the period August 2002 to August 2006. Comparisons were made for first cousin marriage rates in the study group and that for the general population. First cousin marriages constituted 69%, 22% and 41.7% of marriages among families with autosomal recessive conditions (group 1), dominant, X-linked and chromosomal conditions (group 2) and sporadic undiagnosed conditions (group 3) respectively. The differences in the rates of the first cousin matings were highly significant when comparing known figures in the general population with group 1 and 3, but not significant with group 2. Two messages to the public and health care personnel regarding consanguinity can be derived from this study. The first message is that among genetic disorders, only autosomal recessive disorders are strongly associated with consanguinity. The second message is that approximately 30% of sporadic undiagnosed cases of mental retardation, congenital anomalies and dimorphism may have an autosomal recessive etiology with risks of recurrence in future pregnancies. (author)

  4. Cognitive mapping in mental time travel and mental space navigation.

    Science.gov (United States)

    Gauthier, Baptiste; van Wassenhove, Virginie

    2016-09-01

    The ability to imagine ourselves in the past, in the future or in different spatial locations suggests that the brain can generate cognitive maps that are independent of the experiential self in the here and now. Using three experiments, we asked to which extent Mental Time Travel (MTT; imagining the self in time) and Mental Space Navigation (MSN; imagining the self in space) shared similar cognitive operations. For this, participants judged the ordinality of real historical events in time and in space with respect to different mental perspectives: for instance, participants mentally projected themselves in Paris in nine years, and judged whether an event occurred before or after, or, east or west, of where they mentally stood. In all three experiments, symbolic distance effects in time and space dimensions were quantified using Reaction Times (RT) and Error Rates (ER). When self-projected, participants were slower and were less accurate (absolute distance effects); participants were also faster and more accurate when the spatial and temporal distances were further away from their mental viewpoint (relative distance effects). These effects show that MTT and MSN require egocentric mapping and that self-projection requires map transformations. Additionally, participants' performance was affected when self-projection was made in one dimension but judgements in another, revealing a competition between temporal and spatial mapping (Experiment 2 & 3). Altogether, our findings suggest that MTT and MSN are separately mapped although they require comparable allo- to ego-centric map conversion.

  5. The format of children's mental images: Evidence from mental scanning.

    Science.gov (United States)

    Wimmer, Marina C; Maras, Katie L; Robinson, Elizabeth J; Thomas, Charlotte

    2016-09-01

    This study examined the development and format of children's mental images. Children (4-, 5-, 6-7-, 8-9-, and 11-year-olds) and adults (N=282) viewed a map of a fictitious island containing various landmarks and two misleading signposts, indicating that some equidistant landmarks were different distances apart. Five-year-olds already revealed the linear time-distance scanning effect, previously shown in adults (Experiments 1 and 2): They took longer to mentally scan their image of the island with longer distances between corresponding landmarks, indicating the depictive format of children's mental images. Unlike adults, their scanning times were not affected by misleading top-down distance information on the signposts until age 8 (Experiment 1) unless they were prompted to the difference from the outset (Experiment 2). Findings provide novel insights into the format of children's mental images in a mental scanning paradigm and show that children's mental images can be susceptible to top-down influences as are adults'. PMID:27239749

  6. Cognitive mapping in mental time travel and mental space navigation.

    Science.gov (United States)

    Gauthier, Baptiste; van Wassenhove, Virginie

    2016-09-01

    The ability to imagine ourselves in the past, in the future or in different spatial locations suggests that the brain can generate cognitive maps that are independent of the experiential self in the here and now. Using three experiments, we asked to which extent Mental Time Travel (MTT; imagining the self in time) and Mental Space Navigation (MSN; imagining the self in space) shared similar cognitive operations. For this, participants judged the ordinality of real historical events in time and in space with respect to different mental perspectives: for instance, participants mentally projected themselves in Paris in nine years, and judged whether an event occurred before or after, or, east or west, of where they mentally stood. In all three experiments, symbolic distance effects in time and space dimensions were quantified using Reaction Times (RT) and Error Rates (ER). When self-projected, participants were slower and were less accurate (absolute distance effects); participants were also faster and more accurate when the spatial and temporal distances were further away from their mental viewpoint (relative distance effects). These effects show that MTT and MSN require egocentric mapping and that self-projection requires map transformations. Additionally, participants' performance was affected when self-projection was made in one dimension but judgements in another, revealing a competition between temporal and spatial mapping (Experiment 2 & 3). Altogether, our findings suggest that MTT and MSN are separately mapped although they require comparable allo- to ego-centric map conversion. PMID:27239750

  7. Sufism and mental health.

    Science.gov (United States)

    Nizamie, S Haque; Katshu, Mohammad Zia Ul Haq; Uvais, N A

    2013-01-01

    Human experience in, health and disease, always has a spiritual dimension. pirituality is accepted as one of the defining determinants of health and it no more remains a sole preserve of religion and mysticism. In recent years, pirituality has been an area of research in neurosciences and both in the nderstanding of psychiatric morbidity and extending therapeutic interventions it seems to be full of promises. Sufism has been a prominent spiritual tradition in Islam deriving influences from major world religions, such as, Christianity and Hinduism and contributing substantially toward spiritual well-being of a large number of people within and outside Muslim world. Though Sufism started in early days of Islam and had many prominent Sufis, it is in the medieval period it achieved great height culminating in many Sufi orders and their major proponents. The Sufism aims communion with God through spiritual realization; soul being the agency of this communion, and propounding the God to be not only the cause of all existence but the only real existence. It may provide a vital link to understand the source of religious experience and its impact on mental health. PMID:23858257

  8. Telepsychiatry and school mental health.

    Science.gov (United States)

    Grady, Brian J; Lever, Nancy; Cunningham, Dana; Stephan, Sharon

    2011-01-01

    The provision of mental health services in schools has been one effective strategy for reaching out to a greater number of youth to identify and provide treatment for mental health issues. With the increasing challenges related to shortages in child and adolescent psychiatrists, it is critical to develop models of care that can maximize a full range of mental health services for all children and adolescents who need them. Telehealth offers an innovative distance technology strategy to effectively and efficiently provide access to psychiatric services in schools. Telepsychiatry has the potential to better link and enhance the provision of health services, and can be particularly beneficial in addressing geographic distance and/or capacity issues. This article describes the clinical, educational, and administrative uses of telemental health in the school environment with mental health professionals and staff.

  9. Rehabilitation of mentally ill women.

    Science.gov (United States)

    Chatterjee, Rajni; Hashim, Uzma

    2015-07-01

    Women, the fair sex, are principal providers of care and support to families. But, they are considered to be the weaker sex and one of the most powerless and marginalized sections of our society. The provision of Rehabilitation for mentally ill women has been, and still is, one of the major challenges for mental health systems reform in the last decades, for various reasons. The present paper discusses the global and Indian scenario of rehabilitation of mentally ill women and goes on to detail the contribution of the state and voluntary agencies in this regard. It explores the need of recovery, multilayered strategy of Rehabilitation services and the availability of present services. The stigma attached and legal defects which interfere in good quality of life for the mentally ill women are reviewed. Strategies for changes in future are recommended. PMID:26330653

  10. Evolutionary Processes and Mental Deficiency

    Science.gov (United States)

    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. Women Veterans and Mental Health

    Science.gov (United States)

    ... they: Have a past mental health problem (like depression or anxiety) Experience a very severe or life-threatening trauma Were sexually assaulted Were injured during the event Had a severe reaction at the time of ...

  12. Substance Abuse and Mental Health

    Science.gov (United States)

    ... More Drugs and Alcohol Tobacco Learn More Substance Abuse and Mental Health Drugs and Alcohol Did you ... related topics from the National Institute on Alcohol Abuse and Alcoholism (NIAAA) Free Resources for parents and ...

  13. Reducing the Stigma of Mental Illness.

    Science.gov (United States)

    Brown, Kaylene; Bradley, Loretta J.

    2002-01-01

    Each year, an estimated 50 million Americans will experience a mental disorder while only one fourth of them will seek mental health services. Contends that this disparity results from the stigma attached to mental illness. Proposes that counselors must educate the general public about the misconceptions of mental illness and advocate for parity…

  14. [Mental health services in Australia].

    Science.gov (United States)

    Kisely, Steve; Lesage, Alain

    2014-01-01

    Canada is 1.5 times the size of Australia. Australia's population of 20 million is located principally on the east coast. Like Canada, the Australia has a federal system of Government with 5 States and two territories. Each State and territory has its own legislation on mental health. The federal (Commonwealth) Government is responsible for health care planning. In addition, the federal Government subsidizes an insurance program (Medicare) that covers visits to specialists and family physicians, while provincial governments are involved in the provision of hospital care and community mental health services. The Commonwealth government also subsidises the cost of medication through the Pharmaceutical Benefits Scheme. These funds are supplemented by private health insurance. Mental health costs account for 6.5 per cent of all health care costs. Primary care treats the majority of common psychological disorders such as anxiety or depression, while specialist mental health services concentrate on those with severe mental illness. There have been 4 national mental health plans since 1992 with the long term aims of promoting mental health, increasing the quality and responsiveness of services, and creating a consistent approach to mental health service system reform among Australian states and territories. These systematic cycles of planning have first allowed a shift from psychiatric hospitals to community services, from reliance on psychiatric hospitals as pivotal to psychiatric care system. Community care budgets have increased, but overall have decreased with money not following patients; but recent deployment of federally funded through Medicare access to psychotherapy by psychologists for common mental disorders in primary care have increased overall budget. Concerns remain that shift to youth first onset psychosis clinics may come from older long-term psychotic patients, a form of discrimination whilst evidence amount of excess mortality by cardio

  15. [Mental health services in Australia].

    Science.gov (United States)

    Kisely, Steve; Lesage, Alain

    2014-01-01

    Canada is 1.5 times the size of Australia. Australia's population of 20 million is located principally on the east coast. Like Canada, the Australia has a federal system of Government with 5 States and two territories. Each State and territory has its own legislation on mental health. The federal (Commonwealth) Government is responsible for health care planning. In addition, the federal Government subsidizes an insurance program (Medicare) that covers visits to specialists and family physicians, while provincial governments are involved in the provision of hospital care and community mental health services. The Commonwealth government also subsidises the cost of medication through the Pharmaceutical Benefits Scheme. These funds are supplemented by private health insurance. Mental health costs account for 6.5 per cent of all health care costs. Primary care treats the majority of common psychological disorders such as anxiety or depression, while specialist mental health services concentrate on those with severe mental illness. There have been 4 national mental health plans since 1992 with the long term aims of promoting mental health, increasing the quality and responsiveness of services, and creating a consistent approach to mental health service system reform among Australian states and territories. These systematic cycles of planning have first allowed a shift from psychiatric hospitals to community services, from reliance on psychiatric hospitals as pivotal to psychiatric care system. Community care budgets have increased, but overall have decreased with money not following patients; but recent deployment of federally funded through Medicare access to psychotherapy by psychologists for common mental disorders in primary care have increased overall budget. Concerns remain that shift to youth first onset psychosis clinics may come from older long-term psychotic patients, a form of discrimination whilst evidence amount of excess mortality by cardio

  16. Mental Health and Education Decisions

    OpenAIRE

    Cornaglia, Francesca; Crivellaro, Elena; McNally, Sandra

    2012-01-01

    Mental health problems - and depression in particular - have been rising internationally. The link between poor mental health and poor educational outcomes is particularly interesting in the case of the UK which has a low international ranking both on measures of child wellbeing and the probability of early drop-out from the labour market and education. We study this issue using a large longitudinal study of a recent cohort of teenagers in England. We use the General Health Questionnaire to d...

  17. Disability associated with mental disorders

    OpenAIRE

    Chaudhury, Pranit K.; Deka, Kamala; Chetia, Dhrubajyoti

    2006-01-01

    Background: Disability associated with mental illness is a major contributor to the global burden of disease. The present study looks at some aspects of disability associated with 7 psychiatric disorders: schizophrenia, bipolar affective disorder, anxiety disorders, depression, obsessive–compulsive disorder, dementia, and mental and behavioural disorders due to the use of alcohol. Aims: (i) To evaluate the nature and quantity of disabilities in the study groups; (ii) to compare the degree of ...

  18. Chronic diseases and mental disorder.

    OpenAIRE

    Verhaak, P.F.M.; Heijmans, M.J.W.M.; L. Peters; Rijken, M.

    2005-01-01

    The aim of this study was to achieve a better understanding of the relationship between chronic medical illness and mental distress. Therefore, the association between chronic medical illness and mental distress was analysed, taking into account the modifying effects of generic disease characteristics (concerning course, control and possible stressful consequences), physical quality of life indicators and social and relationship problems. Panel data from the Dutch national Panel of Patients w...

  19. Refugees and mental health interventions

    OpenAIRE

    Guribye, Eugene

    2009-01-01

    This thesis focuses on refugees and mental health interventions. A literature review and 24 months of participant observation among Tamil refugee parents in Norway form the basis of the findings presented here. The first study is concerned with refugees and public mental health services in Norway. Many refugees may have difficulties trusting professional helpers within the bureaucratically organized public health care system, replacing these services with relationships to other...

  20. Nepal mental health country profile.

    Science.gov (United States)

    Regmi, S K; Pokharel, A; Ojha, S P; Pradhan, S N; Chapagain, G

    2004-01-01

    The Kingdom of Nepal is situated in the heart of Asia, between its two big neighbours China and India. Nepal is home to several ethnic groups. The majority of the 23 million population reside in the countryside. Although figures on many of the health and socio-economic indicators are non-existing, some existing ones show gradual improvement over the years. However the figures for illiteracy and infant mortality are still one of the highest in the world. As per GDP, and population living below the poverty line and per capita income, Nepal still remains one of the poorest countries in the world. Despite this, it provides shelter to thousands of Bhutanese refugees in its land. Frequent natural disasters and recent violent conflicts in Nepal have further added hardship to life. Less than 3% of the national budget is allocated to the health sector. Mental health receives insignificant attention. The Government spends about 1% of the health budget on mental health. There is no mental health act and the National Mental Health Policy formulated in 1997 is yet to be fully operational. Mental ill health is not much talked about because of the stigma attached. The roles of the legal and insurance systems are almost negligible. The financial burden rests upon the family. The traditional/religious healing methods still remain actively practiced, specifically in the field of mental health. The service, comprising little more than two-dozen psychiatrists along with a few psychiatric nurses and clinical psychologists (mainly practicing in modern health care facilities) has started showing its impact--however this is limited to specific urban areas. The majority of the modern health care facilities across the country are devoid of a mental health facility. The main contextual challenges for mental health in Nepal are the provision of adequate manpower, spreading the services across the country, increasing public awareness and formulating and implementing an adequate policy. PMID

  1. The stigma of mental illness

    Directory of Open Access Journals (Sweden)

    Kordosi A

    2015-10-01

    Full Text Available Introduction:The stigma of mental illness is not a modern phenomenon, but it can now be approached scientifically. The stigma, because of the mental illness which characterizes a person, can be explained by the natural propensity of man to deliver biased and stereotyped estimates to phenomena he cannot explain, accept or face. Methodology:This study is an attempt to describe the concept of stigma and the impact of the stigma of mental illness in the personal and social life of the individual. The search for sources of this review was made through books on the topic and articles of the last twenty years, from online internet sources (pubmed, scopus, google scholar. Literature Review:Stigma brought about by illness from mental illness, is a complex process and concept, located in social interaction and the dynamics of social relations. The social stigma borne by mental illness in general, as well as the lack of information, ignorance, stereotypes, myths and prejudices, are the main reasons that characterize, even today, depression as a taboo subject. The stigma of mental illness is indeliblyimprinted in the identity of human suffering. In any case, the impact of stigma is critical for people who are sick. The psychological stress and difficult conditions that shape their daily lives aggravate their already compromised mental health, having a significant impact on the course and outcome of the disease itself. Key strategies to address stigma are protest, education and contact. Conclusions:A significant step in combating the stigma is to raise public awareness on the issues of mental health and their inclusion in society.

  2. Mental Accounting and Consumer Choice

    OpenAIRE

    Richard Thaler

    1985-01-01

    A new model of consumer behavior is developed using a hybrid of cognitive psychology and microeconomics. The development of the model starts with the mental coding of combinations of gains and losses using the prospect theory value function. Then the evaluation of purchases is modeled using the new concept of “transaction utility.” The household budgeting process is also incorporated to complete the characterization of mental accounting. Several implications to marketing, particularly in the ...

  3. Mental Accounting and Consumer Choice

    OpenAIRE

    Richard H. Thaler

    2008-01-01

    A new model of consumer behavior is developed using a hybrid of cognitive psychology and microeconomics. The development of the model starts with the mental coding of combinations of gains and losses using the prospect theory value function. Then the evaluation of purchases is modeled using the new concept of “transaction utility.” The household budgeting process is also incorporated to complete the characterization of mental accounting. Several implications to marketing, particularly in the ...

  4. Flexible mental calculation and "Zahlenblickschulung"

    OpenAIRE

    Rechtsteiner-Merz, Charlotte; Rathgeb-Schnierer, Elisabeth

    2015-01-01

    International audience; The study focuses on the development of mental calculation of elementary students who show difficulties in learning math. In total, 20 children in 8 classes were observed during their first year at school. The math education of five classes was based on a special approach called “Zahlenblickschulung”, whereas three classes experienced more regular lessons. The collected data allowed a development of a typology of flexibility in mental calculation. Additionally, it was ...

  5. A map of mental health

    OpenAIRE

    Smithies, Rachel

    2010-01-01

    This paper provides a comprehensive picture of mental health services in England, including staffing and expenditure, and the number of people in need and the number treated. Historically, this information has been split across sub-sections of the health and social services; and the readily available information often appeared to give inconsistent answers. This paper brings together and interprets the available evidence to provide a single coherent map of mental health need and services, from...

  6. Mental health in Tamil cinema.

    Science.gov (United States)

    Mangala, R; Thara, R

    2009-06-01

    Tamil cinema is a vibrant part of the lives of many in south India. A chequered history and a phenomenal growth have made this medium highly influential not only in Tamil Nadu politics, but also in the social lives of the viewers. This paper provides an overview of the growth of Tamil cinema, and discusses in detail the way mental health has been handled by Tamil films. Cinema can be used very effectively to improve awareness about mental health issues.

  7. Dangerousness and mental health policy.

    Science.gov (United States)

    Hewitt, J L

    2008-04-01

    Mental health policy development in the UK has become increasingly dominated by the assumed need to prevent violence and alleviate public concerns about the dangers of the mentally ill living in the community. Risk management has become the expected focus of contemporary mental health services, and responsibility has increasingly been devolved to individual service professionals when systems fail to prevent violence. This paper analyses the development of mental health legislation and its impact on services users and mental health professionals at the micro level of service delivery. Historical precedence, media influence and public opinion are explored, and the reification of risk is questioned in practical and ethical terms. The government's newest proposals for compulsory treatment in the community are discussed in terms of practical efficacy and therapeutic impact. Dangerousness is far from being an objectively observable phenomenon arising from clinical pathology, but is a formulation of what is partially knowable through social analysis and unknowable by virtue of its situation in individual psychic motivation. Risk assessment can therefore never be completely accurate, and the solution of a 'better safe than sorry' approach to mental health policy is ethically and pragmatically flawed. PMID:18307647

  8. Evolving society and mental health

    Directory of Open Access Journals (Sweden)

    Dipesh Bhagabati

    2016-07-01

    Full Text Available Numerous issues related to culture, occupation, gender, caste, and health, to name a few, have faced harshness of society from time immemorial. Reasons are debatable, ranging from somewhat understandable to completely unacceptable. There is no doubt that society is dynamic and it has changed its view on many of the issues with passing time. Mental health is one such issue which society has neglected for quite a long time. Even today, mental health and mentally ill people face stigma and discrimination in their family, society, and at their workplace. People do not feel comfortable talking about mental health, even if they know that there cannot be any health without a healthy mind. But, as Albert Einstein has said “learn from yesterday, live for today, and hope for tomorrow”, everything is not lost. The mentally ill patients who were once abandoned and left on their own have now started to get humane care and attention. This article discusses this very pertinent topic of changing society and mental health.

  9. Mental Retardation. Fact Sheet = El Retraso Mental. Hojas Informativas Sobre Discapacidades.

    Science.gov (United States)

    National Information Center for Children and Youth with Disabilities, Washington, DC.

    This fact sheet on mental retardation is written in both English and Spanish. It begins with a vignette of a 15-year-old boy with mental retardation. Mental retardation is briefly explained as are some causes of mental retardation. It notes that a diagnosis of mental retardation looks at two things: first, the ability of a person's brain to learn,…

  10. Television and the promotion of mental health

    OpenAIRE

    Milošević Ljiljana

    2011-01-01

    Current media campaigns, realized within national campaigns and actions on mental health prevention and promotion, are considered in this paper, in the context of expert public relation, as well as the whole society, towards mental health. Mental health promotion is determined as a range of activities by which individuals, community and society are being enabled to take control over mental health determinants and to improve it, but also as an action for improvement of mental health posi...

  11. Mental disorders, brain disorders and values

    OpenAIRE

    Anneli eJefferson

    2014-01-01

    The debates about the normativity of mental disorders and about the distinction between somatic and mental disorders have long been closely linked. This is very obvious in Szasz, who claims that there can only be brain disorders, no mental disorders and that so-called mental disorders are really problems in living. The implication of the latter claim is that people who have mental disorders are really people whose behavior and emotions depart from societal expectations. One might therefore be...

  12. Mental illness disclosure in Chinese immigrant communities

    OpenAIRE

    Chen, Fang-Pei; Ying-Chi Lai, Grace; Yang, Lawrence

    2013-01-01

    Support from social networks is imperative to mental health recovery of persons with mental illness. However, disclosing mental illness may damage a person’s participation in networks due to mental illness stigma, especially in Chinese-immigrant communities where social networks (the guanxi network) has specific social-cultural significance. This study focused on mental illness disclosure in Chinese-immigrant communities in New York City. Fifty-three Chinese psychiatric patients were recruite...

  13. Mental Retardation and Parenting Stress

    Directory of Open Access Journals (Sweden)

    Eleni Siamaga

    2011-01-01

    Full Text Available Backround: The presence, upbringing and looking after of a mentally retarded child in the family, can become a threat to the mental health of its parents and is the main predisposing factor of stress for the parents.Aim: The purpose of this systematic review is (a to document the contemporary research bibliography related to the stress of parents with mentally retarded children, (b to aggregate the factors and secondary parameters based on the contemporary research related to the influence of the (child’s mental retardation on the parents and (c to show an intercultural aspect regarding the presence of stress to parents with mentally retarded children.Methods: Systematic review of research articles published in scientific journals included in the international academic databases HEAL-LING, SAGE, ELSEVIER, WILSON, SCIENCEDIRECT, MEDLINE, PUBMED, PsycINFO, Cochrane, EMBASE, SCIRUS and CINAHL having as search criteria and key words the terms («parental stress and mental retardation» [MeSH], «parenting stress and persons with special needs» [MeSH], «mental retardation and family problems» [MeSH], «stress and parents» [MeSH], «parenting and stress» [MeSH], «mental delay and parents» [MeSH], «developmental disabilities and family stress» [MeSH], «intellectual handicap and parenting» [MeSH], «maternal stress and child with disabilities» [MeSH].Discussion: The review has proven that all forms of mental retardation have an important -from a statistic point of viewimpacton the parents’ mental health. Anxiety, stress and depression are common symptoms mentioned by the parents.Additionally, there are individual variables such as the husband-wife relationship, the parents’ approach to their child’s disability, the parental strategies used in order to cope with the daily life of the child’s disability and the behavioural problems of their child, all of which contribute to the increase of the level of parental stress

  14. Malaysia mental health country profile.

    Science.gov (United States)

    Parameshvara Deva, M

    2004-01-01

    Malaysia is a tropical country in the heart of south east Asia with a population of 24 million people of diverse ethnic, cultural and religious backgrounds living in harmony in 330,000 km(2) of land on the Asian mainland and Borneo. Malaysia, which lies on the crossroads of trade between east and west Asia, has an ancient history as a centre of trading attracting commerce between Europe, west Asia, India and China. It has had influences from major powers that dominated the region throughout its history. Today the country, after independence in 1957, has embarked on an ambitious development project to make it a developed country by 2020. In this effort the economy has changed from one producing raw material to one manufacturing consumer goods and services and the colonial health system has been overhauled and social systems strengthened to provide better services for its people. The per capita income, which was under 1,000 US dollars at independence, has now passed 4,000 US dollars and continues to grow, with the economy largely based on strong exports that amount to over 100 billion US dollars. The mental health system that was based on institutional care in four mental hospitals at independence from British colonial rule in 1957 with no Malaysian psychiatrists is today largely based on over 30 general hospital psychiatric units spread throughout the country. With three local postgraduate training programmes in psychiatry and 12 undergraduate departments of psychiatry in the country--all started after independence--there is now a healthy development of mental health services. This is being supplemented by a newly established primary care mental health service that covers community mental health by integrating mental health into primary health care. Mental health care at the level of psychiatrists rests with about 140 psychiatrists most of whom had undertaken a four-year masters course in postgraduate psychiatry in Malaysia since 1973. However, there continues to be

  15. Malaysia mental health country profile.

    Science.gov (United States)

    Parameshvara Deva, M

    2004-01-01

    Malaysia is a tropical country in the heart of south east Asia with a population of 24 million people of diverse ethnic, cultural and religious backgrounds living in harmony in 330,000 km(2) of land on the Asian mainland and Borneo. Malaysia, which lies on the crossroads of trade between east and west Asia, has an ancient history as a centre of trading attracting commerce between Europe, west Asia, India and China. It has had influences from major powers that dominated the region throughout its history. Today the country, after independence in 1957, has embarked on an ambitious development project to make it a developed country by 2020. In this effort the economy has changed from one producing raw material to one manufacturing consumer goods and services and the colonial health system has been overhauled and social systems strengthened to provide better services for its people. The per capita income, which was under 1,000 US dollars at independence, has now passed 4,000 US dollars and continues to grow, with the economy largely based on strong exports that amount to over 100 billion US dollars. The mental health system that was based on institutional care in four mental hospitals at independence from British colonial rule in 1957 with no Malaysian psychiatrists is today largely based on over 30 general hospital psychiatric units spread throughout the country. With three local postgraduate training programmes in psychiatry and 12 undergraduate departments of psychiatry in the country--all started after independence--there is now a healthy development of mental health services. This is being supplemented by a newly established primary care mental health service that covers community mental health by integrating mental health into primary health care. Mental health care at the level of psychiatrists rests with about 140 psychiatrists most of whom had undertaken a four-year masters course in postgraduate psychiatry in Malaysia since 1973. However, there continues to be

  16. The mental patients' rights movement and mental health institutional change.

    Science.gov (United States)

    Brown, P

    1981-01-01

    The mental patients' rights movement has added to the widespread critique of institutional psychiatry and provided leadership in opposing treatment methods such as electroshock, psychosurgery, and overdrugging, which are dangerous and regressive not only to patients, but to the expanded population of non-institutionalized persons as well. The movement has had some success in court cases for democratic rights, such as the right to treatment, the right to refuse treatment, patient labor, and commitment law. At the same time patients' rights demands have been partly coopted by mental health administrators. In a number to cases, mental health officials supported patients' rights litigation because it enabled them to speed up their deinstitutionalization programs. Overall, the conjuncture of the movement with economic impetus toward deinstitutionalization has allowed mental health planners to use the patients' rights issues to justify their essentially fiscal policy. Providers and administrators have set up advocacy offices, posted patients' bills of rights, and incorporated ex-patient representatives on advisory boards. Yet mental health administrators are generally opposed to a broad application of patients' rights. PMID:7333723

  17. Mental health training program for community mental health staff in Guangzhou, China: effects on knowledge of mental illness and stigma

    OpenAIRE

    Li, Jie; Li, Juan; Huang, Yuanguang; THORNICROFT, GRAHAM

    2014-01-01

    Background In order to reduce the huge treatment gap in mental health, WHO has called for integrating mental health into primary care. The purposes of this study are to provide a training course to improve the community mental health staff’s knowledge of mental health and reduce stigma related to mental illness, as well as to evaluate the impact of this training on knowledge and stigma. Methods The training intervention was a one day course for community mental health staff in Guangzhou, Chin...

  18. Nutritional therapies for mental disorders

    Directory of Open Access Journals (Sweden)

    Vieira Karen F

    2008-01-01

    Full Text Available Abstract According to the Diagnostic and Statistical Manual of Mental Disorders, 4 out of the 10 leading causes of disability in the US and other developed countries are mental disorders. Major depression, bipolar disorder, schizophrenia, and obsessive compulsive disorder (OCD are among the most common mental disorders that currently plague numerous countries and have varying incidence rates from 26 percent in America to 4 percent in China. Though some of this difference may be attributable to the manner in which individual healthcare providers diagnose mental disorders, this noticeable distribution can be also explained by studies which show that a lack of certain dietary nutrients contribute to the development of mental disorders. Notably, essential vitamins, minerals, and omega-3 fatty acids are often deficient in the general population in America and other developed countries; and are exceptionally deficient in patients suffering from mental disorders. Studies have shown that daily supplements of vital nutrients often effectively reduce patients' symptoms. Supplements that contain amino acids also reduce symptoms, because they are converted to neurotransmitters that alleviate depression and other mental disorders. Based on emerging scientific evidence, this form of nutritional supplement treatment may be appropriate for controlling major depression, bipolar disorder, schizophrenia and anxiety disorders, eating disorders, attention deficit disorder/attention deficit hyperactivity disorder (ADD/ADHD, addiction, and autism. The aim of this manuscript is to emphasize which dietary supplements can aid the treatment of the four most common mental disorders currently affecting America and other developed countries: major depression, bipolar disorder, schizophrenia, and obsessive compulsive disorder (OCD. Most antidepressants and other prescription drugs cause severe side effects, which usually discourage patients from taking their medications. Such

  19. Physiotherapy students’ mental health assessment

    Directory of Open Access Journals (Sweden)

    Gesouli-Voltyraki –E.

    2012-04-01

    Full Text Available Introduction: Educational environment has a serious impact on students’ mental health. Few data are available on mental health of Physiotherapy students. Aim: The purpose of this study was to assess the mental heath of students in a tertiary Physiotherapy Department during the 3rd years of studies. Material and methods: 80 males and females physiotherapy students of the 5th and 6th semester of a tertiary Physiotherapy Department filled in the GHQ-28 questionnaire. Comparisons between groups were performed using the non parametric Mann-Whitney-U test at significance level of p=0.05. Results: Physiotherapy students’ mean age was 21.77±2.42 years old. The majority of the sample were women (47 participants, 58.7%. 50% of students had a total GHQ -28 score >5, indicating high levels of distress, with anxiety and insomnia being major problems. No statistically significant differences were traced between men and women, although women had a higher total score in comparison with men (median values: 5 vs 3 respectively. Conclusions: Physiotherapy students’ mental health and especially female physiotherapy students’ mental health appears substantially burdened. Anxiety and insomnia are major problem for students of Physiotherapy.

  20. Leadership and mental health nursing.

    Science.gov (United States)

    Cleary, Michelle; Horsfall, Jan; Deacon, Maureen; Jackson, Debra

    2011-01-01

    This discussion paper argues for the critical importance of successful leadership for effective mental health nursing, observing that nursing leadership has long been regarded problematically by the profession. Using empirical and theoretical evidence we debate what leadership styles and strategies are most likely to result in effective, recovery-orientated mental health nursing. Models of transformational and distributed leadership are found to be highly congruent with mental health nursing values, yet the literature suggests it is a type of leadership more often desired than experienced. We note how the scholarly literature tends to ignore the "elephant in the room" that is organizational power, and we question whether transformational leadership pursued within a specific clinical context can influence beyond those confines. Nevertheless it is within these contexts that consumers experience nursing, effective or otherwise, thus we should advocate what is known about effective leadership wherever it is required.

  1. Mental models and user training

    Directory of Open Access Journals (Sweden)

    Saša Zupanič

    1997-01-01

    Full Text Available One of the functions of the reference service is user training which means teaching users how to use the library and it's information sorces (nowadays mainly computerized systems. While the scientific understanding of teaching/learning process is shifting, changes also affect the methods of user training in libraries.Human-computer interaction (HCI is an interdisciplinary and a very active research area which studies how humans use computers - their mental and behavioral characteristics. The application of psychological theories to HCI are especially great on three areas: psychological (mental, conceptual models, individual differences, and error behavior.The mental models theory is powerful tool for understanding the ways in which users interact with an information system. Claims, based on this theory can affect the methods (conceptualization of user training and the overall design of information systems.

  2. 'Chronic' identities in mental illness.

    Science.gov (United States)

    von Peter, Sebastian

    2013-04-01

    The term 'chronicity' is still widely used in psychiatric discourse and practice. A category employed in political, administrative and therapeutic contexts, it guides practitioners' beliefs and actions. This paper attempts a review of the attitudes and procedures that result as a consequence of identifying 'chronically' disturbed identities in clinical practice. An essentially social, relational and materialist understanding of mental illness is used to highlight the kind of thinking underlying the notion of 'chronic' identities in day-to-day psychiatric routines. Problematising the notions of singularity and expressiveness, as well as mind/body- and self/other-distinctions, it claims the category itself is responsible for creating a 'chronic' kind of being. A spatial metaphor is presented in the conclusion, illustrating a mental strategy by which we can re-shape our thinking about 'chronic' identities. It attempts to describe how the shift from an epistemological to a praxeographic approach could build a more complete understanding of mental illness. PMID:23528064

  3. 21.4.Mental deficiency

    Institute of Scientific and Technical Information of China (English)

    1993-01-01

    930413 Clinlcal study of mental disorders inpost—stroke patients.WANG Huanlin (王焕林),et al.102nd Hosp,PLA Changzhou,213003.Chin J Nerv & Ment Dis 1992;18(5):281—283.The mental disorder has been studied bymeans of DSM-Ⅱ diagnostic criteria in 104hospitalized stroke patients.The results re-vealed that the prevalence of mental disorderwas 46.2% in post-stroke patients.Theprevalence of poststroke depression (PSD),de-pressive neurosis (DN),multiple infarct demen-tia (MID),and post—stroke mania (PSM) were22.1%,11.5%,8.7%,and 3(?)8% respectively.It was indicated that the lesions of frontal cortexand left basal ganglia were strongly associated

  4. Medio laboral y salud mental.

    Directory of Open Access Journals (Sweden)

    Alberto Fernández Liria

    2004-01-01

    Full Text Available Se revisan las formas predominantes de experimentar el trabajo y el medio laboral en el mundo occidental desde la revolución industrial analizando el surgimiento de diferentes funciones, como: medio de subsistencia, generador de derechos, jerarquizador en el entramado social, fuente de significado personal y entorno privilegiado de relaciones interpersonales significativas. Se discute el papel que la actividad productiva puede tener en el sistema de significados que configura a los individuos como miembros de una sociedad concreta, y, por tanto, en su salud mental. En base a ello se discute el papel del sistema de atención la salud mental en este terreno.

  5. Hebephilia is a Mental Disorder?

    Directory of Open Access Journals (Sweden)

    Richard Green

    2010-06-01

    Full Text Available The proposed inclusion of a hebephilic sexual orientation (early pubescent males and/or females in DSM-5 compromises the scientific credibility of psychiatry. Moralism about the age of an acceptable sexual partner drives this proposal. It ignores common patterns of sexual arousal, cultural variability, and historic precedents. It blurs the domains of psychiatry and law. The age of sexual consent is 14 in much of Europe. An example of the new "mentally disordered" would be a 19 year old with a consenting 14 year old. Where sexual interaction is legally accepted, but pathologized as mental disorder, psychiatry attempts to act as an agent of social control.

  6. New Percepts via Mental Imagery?

    OpenAIRE

    Fred Walter Mast; Elisa eTartaglia; Michael eHerzog

    2012-01-01

    We are able to extract detailed information from mental images that we were not explicitly aware of during encoding. For example, we can discover a new figure when we rotate a previously seen image in our mind. However, such discoveries are not “really” new but just new “interpretations.” In two recent publications, we have shown that mental imagery can lead to perceptual learning (Tartaglia et al., 2009, 2012). Observers imagined the central line of a bisection stimulus for thousands of tria...

  7. Anorexia nervosa e retardo mental

    OpenAIRE

    Adriana Trejger Kachani; Táki Athanássios Cordás

    2011-01-01

    OBJETIVO: Revisar a literatura pertinente, observando a prevalência, etiopatogenia, aspectos nutricionais, diagnóstico e tratamento da anorexia nervosa (AN) em pacientes com retardo mental (RM). MÉTODO: Revisão bibliográfica realizada nos sistemas Medline, SciELO e PubMed usando os descritores "transtornos alimentares", "anorexia nervosa" e "retardo mental". RESULTADOS: A AN pode se manifestar de formas atípicas em indivíduos com RM, exigindo critérios diagnósticos específicos. O mais utiliza...

  8. Auto cannibalism in mental retardation

    Directory of Open Access Journals (Sweden)

    Rohit Verma

    2014-01-01

    Full Text Available Mental retardation (MR deems an individual more vulnerable to psychopathologies. The individual may develop an array of behavioral disturbances manifesting themselves in the form of aggressive and destructive conduct, violent fits of anger, stereotyped, or self-injuring behavior. Self-injurious behavior is heterogeneous in nature ranging from mild to severe variant. We report a case of a 7-year-old boy with MR with self-inflicted severe oral injuries of cannibalistic nature presenting as cleft lip and palate. A more extensive research is needed on the problem behaviors in mentally retarded patients for early detection and effective and timely intervention leading to a better outcome.

  9. A study of mental models

    Directory of Open Access Journals (Sweden)

    A. Tarciso Borges

    1997-09-01

    Full Text Available The concept of mental models is being used in several areas of knowledge in order to study the representations users have about physical systems and events, as well as the content of such representations. However, it cannot be considered a unitary concept. This paper discusses the assumptions envolved in different areas of knowledge and describes a study of the mental model of magnetism held by students and professionals such as electricians physics teachers, and engineers. The identified model stress two aspects: what is the origin of permanent magnets and what is the mechanism of the magnetic interaction.

  10. Learning Mental States from Biosignals

    OpenAIRE

    Kandemir, Melih

    2013-01-01

    As computing technology evolves, users perform more complex tasks with computers. Hence, users expect from user interfaces to be more proactive than reactive. A proactive interface should anticipate the user’s intentions and take the right action without requiring a user command. The crucial first step for such an interface is to infer the user’s mental state, which gives important cues about user intentions. This thesis consists of several case studies on inferring mental states of computer ...

  11. Malayalam cinema and mental health.

    Science.gov (United States)

    Menon, Koravangattu Valsraj; Ranjith, Gopinath

    2009-06-01

    There is a tradition of using films to teach various aspects of psychiatry and we feel that Malayalam cinema can also be used suitably to teach effectively. These films can be an invaluable resource in cultural competency training as they depict the effects of culture on psychopathology and cultural and regional influences on attitudes to mental illness and stigma. We also note that the portrayal is often far from reality but this is not a barrier for using the films as an effective alternative to traditional and didactic teaching methods. This method of teaching can stimulate interest and discussion and demystify the myths of novice students and others about mental health.

  12. Stigma and Mental Illness: Investigating Attitudes of Mental Health and Non-Mental-Health Professionals and Trainees

    Science.gov (United States)

    Smith, Allison L.; Cashwell, Craig S.

    2010-01-01

    The authors explored attitudes toward adults with mental illness. Results suggest that mental health trainees and professionals had less stigmatizing attitudes than did non-mental-health trainees and professionals. Professionals receiving supervision had higher mean scores on the Benevolence subscale than did professionals who were not receiving…

  13. Dual Diagnosis: Substance Abuse and Mental Illness

    Science.gov (United States)

    ... disorder becoming more severe when that person abuses heroin during periods of mania. Either substance abuse or mental illness can develop first. A person experiencing a mental health condition may turn to drugs and alcohol as ...

  14. Mental EEG Analysis Based on Infomax Algorithm

    Institute of Scientific and Technical Information of China (English)

    WUXiao-pei; GuoXiao-jing; ZANGDao-xin; SHENQian

    2004-01-01

    The patterns of EEG will change with mental tasks performed by the subject. In the field of EEG signal analysis and application, the study to get the patterns of mental EEG and then to use them to classify mental tasks has the significant scientific meaning and great application value. But for the reasons of different artifacts existing in EEG, the pattern detection of EEG under normal mental states is a very difficult problem. In this paper, Independent Component Analysisis applied to EEG signals collected from performing different mental tasks. The experiment results show that when one subject performs a single mental task in different trials, the independent components of EEG are very similar. It means that the independent components can be used as the mental EEG patterns to classify the different mental tasks.

  15. Adolescent Offenders with Mental Disorders

    Science.gov (United States)

    Grisso, Thomas

    2008-01-01

    In this paper, the author points out that youth with mental disorders make up a significant subgroup of youth who appear in U.S. juvenile courts. And he notes that juvenile justice systems today are struggling to determine how best to respond to those youths' needs, both to safeguard their own welfare and to reduce re-offending and its…

  16. Marriage, mental illness and law

    OpenAIRE

    Sharma, Indira; Reddy, Karri Rama; Kamath, Rabindra Mukund

    2015-01-01

    The Special Marriage Act (SMA), 1954 and the Hindu Marriage Act (HMA), 1955 have put restrictions on the marriage of persons with mental illness, which are proving to be detrimental to patients and their families. There is an urgent need to address this problem. The deficiencies in the existing legislation have been projected and constructive suggestions have been put forward.

  17. Marriage, mental illness and law.

    Science.gov (United States)

    Sharma, Indira; Reddy, Karri Rama; Kamath, Rabindra Mukund

    2015-07-01

    The Special Marriage Act (SMA), 1954 and the Hindu Marriage Act (HMA), 1955 have put restrictions on the marriage of persons with mental illness, which are proving to be detrimental to patients and their families. There is an urgent need to address this problem. The deficiencies in the existing legislation have been projected and constructive suggestions have been put forward. PMID:26330652

  18. Genetic Counseling in Mental Retardation.

    Science.gov (United States)

    Bowen, Peter

    The task of the genetic counselor who identifies genetic causes of mental retardation and assists families to understand risk of recurrence is described. Considered are chromosomal genetic disorders such as Down's syndrome, inherited disorders such as Tay-Sachs disease, identification by testing the amniotic fluid cells (amniocentresis) in time…

  19. Stratified medicine for mental disorders

    NARCIS (Netherlands)

    Schumann, G.; Binder, E.B.; Holte, A.; Kloet, E.R. de; Oedegaard, K.J.; Robbins, T.W.; Walker-Tilley, T.R.; Bitter, I.; Brown, V.J.; Buitelaar, J.; Ciccocioppo, R.; Cools, R.; Escera, C.; Fleischhacker, W.; Flor, H.; Frith, C.D.; Heinz, A.; Johnsen, E.; Kirschbaum, C.; Klingberg, T.; Lesch, K.P.; Lewis, S.; Maier, W.; Mann, K.; Martinot, J.L.; Meyer-Lindenberg, A.; Muller, C.P.; Muller, W.E.; Nutt, D.J.; Persico, A.; Perugi, G.; Pessiglione, M.; Preuss, U.W.; Roiser, J.P.; Rossini, P.M.; Rybakowski, J.K.; Sandi, C.; Stephan, K.E.; Undurraga, J.; Vieta, E.; Wee, N. van der; Wykes, T.; Haro, J.M.; Wittchen, H.U.

    2014-01-01

    There is recognition that biomedical research into the causes of mental disorders and their treatment needs to adopt new approaches to research. Novel biomedical techniques have advanced our understanding of how the brain develops and is shaped by behaviour and environment. This has led to the adven

  20. Mild mental stress in diabetes

    DEFF Research Database (Denmark)

    Hildebrandt, P; Mehlsen, J; Sestoft, L;

    1985-01-01

    A TV-game of tennis of 20 min duration was used to study the influence of mild mental stress on subcutaneous blood-flow (SBF), blood-pressure and heart rate in nine insulin-dependent diabetics and nine healthy subjects. SBF was measured on the thigh by local clearance of xenon-133. Measurements...

  1. The Workplace and Mental Health.

    Science.gov (United States)

    Pierre, Karin Domnick

    1986-01-01

    Findings of the Canadian Mental Health and the Workplace Project are that (1) the quality of interpersonal relations in the workplace is a major factor in emotional well-being and (2) work must be balanced with other parts of one's life. These findings imply the need for social support networks and alternative work patterns. (SK)

  2. Child Mental Health Services, Inc.

    Science.gov (United States)

    Milner, Betty

    School and residential therapeutic programs of Child Health Mental Services, Inc. serving schizophrenic, autistic, and emotionally disturbed children and youth (2-21 years old) are described. The residential components include a family unit home as well as a supervised apartment living program. Admissions procedures for the school program are…

  3. Media and mental illness: Relevance to India

    OpenAIRE

    S K Padhy; S Khatana; Sarkar, S.

    2014-01-01

    Media has a complex interrelationship with mental illnesses. This narrative review takes a look at the various ways in which media and mental illnesses interact. Relevant scientific literature and electronic databases were searched, including Pubmed and GoogleScholar, to identify studies, viewpoints and recommendations using keywords related to media and mental illnesses. This review discusses both the positive and the negative portrayals of mental illnesses through the media. The portrayal o...

  4. Promoting and Protecting Mental Health as Flourishing: A Complementary Strategy for Improving National Mental Health

    Science.gov (United States)

    Keyes, Corey L. M.

    2007-01-01

    This article summarizes the conception and diagnosis of the mental health continuum, the findings supporting the two continua model of mental health and illness, and the benefits of flourishing to individuals and society. Completely mentally healthy adults--individuals free of a 12-month mental disorder and flourishing--reported the fewest missed…

  5. States Pass Diverse Slate of Mental Health Legislation in 2013. Mental Health: 2013 Legislative Session

    Science.gov (United States)

    Thomsen, Jennifer

    2014-01-01

    Recent violence in schools and on college campuses has brought into sharp focus the need to address mental health issues in educational settings. Getting students with mental health problems the help they need, without stigmatizing mental illness, may help prevent future tragedies. Children with mental health problems face a host of challenges,…

  6. Mental health in China: current status and prevention and control of mental disorders

    Institute of Scientific and Technical Information of China (English)

    张维熙

    2003-01-01

    @@ Mental health is the balance between all aspects of life (e.g. social, physical, spiritual and emotional). Mental health is far more than absence of mental illness and has to do with the prevention and management of various kinds of psychoses and psychological and behavior disorders so as to improve overall level of mental health in populations.

  7. Defendants with Intellectual Disabilities and Mental Health Diagnoses: Faring in a Mental Health Court

    Science.gov (United States)

    Burke, M. M.; Griggs, M.; Dykens, E. M.; Hodapp, R. M.

    2012-01-01

    Background: Begun in the late 1990s, mental health courts are specialty criminal courts developed to address the needs of persons with mental illness. Methods: As many persons with intellectual disabilities (IDs) may overlap in the mental health court system, we used mental health court records to examine the phenomenology and outcomes of 224…

  8. Mental Illness And Brain Disease.

    Science.gov (United States)

    Bedrick, Jeffrey D

    2014-01-01

    It has become common to say psychiatric illnesses are brain diseases. This reflects a conception of the mental as being biologically based, though it is also thought that thinking of psychiatric illness this way will reduce the stigma attached to psychiatric illness. If psychiatric illnesses are brain diseases, however, it is not clear why psychiatry should not collapse into neurology, and some argue for this course. Others try to maintain a distinction by saying that neurology deals with abnormalities of neural structure while psychiatry deals with specific abnormalities of neural functioning. It is not clear that neurologists would accept this division, nor that they should. I argue that if we take seriously the notion that psychiatric illnesses are mental illnesses we can draw a more defensible boundary between psychiatry and neurology. As mental illnesses, psychiatric illnesses must have symptoms that affect our mental capacities and that the sufferer is capable of being aware of, even if they are not always self-consciously aware of them. Neurological illnesses, such as stroke or multiple sclerosis, may be diagnosed even if they are silent, just as the person may not be aware of having high blood pressure or may suffer a silent myocardial infarction. It does not make sense to speak of panic disorder if the person has never had a panic attack, however, or of bipolar disorder in the absence of mood swings. This does not mean psychiatric illnesses are not biologically based. Mental illnesses are illnesses of persons, whereas other illnesses are illnesses of biological individuals. PMID:26444362

  9. Mental Illness And Brain Disease

    Directory of Open Access Journals (Sweden)

    Bedrick Jeffrey D.

    2014-12-01

    Full Text Available It has become common to say psychiatric illnesses are brain diseases. This reflects a conception of the mental as being biologically based, though it is also thought that thinking of psychiatric illness this way will reduce the stigma attached to psychiatric illness. If psychiatric illnesses are brain diseases, however, it is not clear why psychiatry should not collapse into neurology, and some argue for this course. Others try to maintain a distinction by saying that neurology deals with abnormalities of neural structure while psychiatry deals with specific abnormalities of neural functioning. It is not clear that neurologists would accept this division, nor that they should. I argue that if we take seriously the notion that psychiatric illnesses are mental illnesses we can draw a more defensible boundary between psychiatry and neurology. As mental illnesses, psychiatric illnesses must have symptoms that affect our mental capacities and that the sufferer is capable of being aware of, even if they are not always self-consciously aware of them. Neurological illnesses, such as stroke or multiple sclerosis, may be diagnosed even if they are silent, just as the person may not be aware of having high blood pressure or may suffer a silent myocardial infarction. It does not make sense to speak of panic disorder if the person has never had a panic attack, however, or of bipolar disorder in the absence of mood swings. This does not mean psychiatric illnesses are not biologically based. Mental illnesses are illnesses of persons, whereas other illnesses are illnesses of biological individuals.

  10. NIMH Support of Rural Mental Health.

    Science.gov (United States)

    Hutner, Michael; Windle, Charles

    1991-01-01

    The National Institute of Mental Health (NIMH) aims to improve mental health services by funding research projects and research centers. NIMH also supports state planning, protection of and advocacy for the mentally ill, disaster relief, professional training, and public information programs. (DM)

  11. Mental Images towards the Concept of Drama

    Science.gov (United States)

    Pekdogan, Serpil; Korkmaz, Halil Ibrahim

    2016-01-01

    The aim of this study is to examine the mental images of preschool teacher candidates related to the concept of drama via metaphors. We questioned these questions; "What are the metaphors or mental images of teacher candidates?," "Under which conceptual categories are these metaphors or mental images can be collected?" and…

  12. Mental Maps and Metaphors in Academic Libraries.

    Science.gov (United States)

    McInnis, Raymond G.

    1984-01-01

    Discusses the concept of mental (or cognitive) maps--the images we construct in our minds to help us understand something--and argues that geographers' literature on mental maps can provide greater understanding of scientific literature's formats, conventions, processes, and formulations. Three classes of perception studies for mental maps are…

  13. What characterizes persons with poor mental health?

    DEFF Research Database (Denmark)

    Christensen, Anne Illemann; Davidsen, Michael; Kjøller, Mette;

    2014-01-01

    CHARACTERIZE MEN AND WOMEN WITH POOR MENTAL HEALTH THE PRESENT FINDINGS SUPPORT THE NOTION THAT BOTH SOCIO-DEMOGRAPHICS AND LIFESTYLE FACTORS ARE INDEPENDENTLY RELATED WITH POOR MENTAL HEALTH WE SUGGEST TAKING INTO ACCOUNT ALL THESE AREAS OF LIFE WHEN PLANNING ACTIVITIES TO PREVENT POOR MENTAL HEALTH AND WHEN...

  14. Positive mental health: is there a cross-cultural definition?

    Science.gov (United States)

    Vaillant, George E

    2012-06-01

    SEVEN MODELS FOR CONCEPTUALIZING POSITIVE MENTAL HEALTH ARE REVIEWED: mental health as above normal, epitomized by a DSM-IV's Global Assessment of Functioning (GAF) score of over 80; mental health as the presence of multiple human strengths rather than the absence of weaknesses; mental health conceptualized as maturity; mental health as the dominance of positive emotions; mental health as high socio-emotional intelligence; mental health as subjective well-being; mental health as resilience. Safeguards for the study of mental health are suggested, including the need to define mental health in terms that are culturally sensitive and inclusive, and the need to empirically and longitudinally validate criteria for mental health.

  15. Attitudes towards mental disorders and emotional empathy in mental health and other healthcare professionals

    OpenAIRE

    Gateshill, Georgina; Kucharska-Pietura, Kate; Wattis, John

    2011-01-01

    Aims and method To compare attitudes towards mental disorders in professionals working in mental health and professionals working in different areas of medicine. Levels of emotional empathy in both groups were also investigated. In total, 58 mental healthcare professionals and 60 non-mental healthcare professionals completed our attitudes towards mental disorders questionnaire and Balanced Emotional Empathy Scale. Results The results reveal generally positive attitudes towar...

  16. Mental health services system research: the National Institute of Mental Health program.

    OpenAIRE

    Taube, C A; Burns, B J

    1988-01-01

    There is a critical need for research to examine the changing mental health services system, to evaluate major innovations in the provision of mental health treatment, and to remove existing barriers to comprehensive and cost-effective care. To achieve these aims, collaboration is needed among government agencies, mental health services programs, academic institutions, and the private sector. The National Institute of Mental Health supports research and research training on the mental health ...

  17. Mental health among students of pedagogical universities

    Directory of Open Access Journals (Sweden)

    Malinauskas R.

    2010-06-01

    Full Text Available This article deals with questions of mental health among students of pedagogical universities. There were analysed differences in the level of mental health among sporting and non-sporting students. Two methods were used in the inquiry. Stepanov's questionnaire was used to estimate the level of mental health, Gundarov's questionnaire was used to evaluate psychical satisfaction. The sample consisted of 263 sporting students (athletes and 288 non-sporting students. Results have shown that the level of mental health among sporting students was higher than the level of mental health among non-sporting students.

  18. The Role of Empathy in Mental Attribution

    Directory of Open Access Journals (Sweden)

    Brunsteins, Patricia

    2011-05-01

    Full Text Available This work examines in what extent a notion of empathy may clarify mindreading’s debate. Taking into account an interdisciplinary and integrative notion of empathy, compatibility with mental attribution strategies both mental simulation and theory-theory, in non pure versions, is evaluated. Firstly, new empirical research is supposed to contribute strengthening an integrative empathy instead of theory-theory or mental simulation `s points of view. Secondly, new empirical research will bring better tools to distinguish between empathy and simulation. Consequently, the relationship between empathy and mental attribution theories may be better delimited and a full mental attribution theory may possibly be proposed.

  19. Rural mental health: neither romanticism nor despair.

    Science.gov (United States)

    Wainer, J; Chesters, J

    2000-06-01

    This paper explores the relationship between rural places and mental health. It begins with a definition of mental health and an outline of the data that have led to the current concern with promoting positive mental health. We then consider aspects of rural life and place that contribute to positive mental health or increase the likelihood of mental health problems. Issues identified include environment, place, gender identity, violence and dispossession and the influence of the effects of structural changes in rural communities. The paper concludes with a discussion of some of the determinants of resilience in rural places, including social connectedness, valuing diversity and economic participation. PMID:11249401

  20. Television and the promotion of mental health

    Directory of Open Access Journals (Sweden)

    Milošević Ljiljana

    2011-01-01

    Full Text Available Current media campaigns, realized within national campaigns and actions on mental health prevention and promotion, are considered in this paper, in the context of expert public relation, as well as the whole society, towards mental health. Mental health promotion is determined as a range of activities by which individuals, community and society are being enabled to take control over mental health determinants and to improve it, but also as an action for improvement of mental health position on individual and social value scale. Characteristics and approach to mental health protection of citizens in Serbia are introduced in the paper, with reference to high incidence and prevalence of mental health disorders, as well as actual challenges to mental health of individuals, but also to modern society. Outcomes of the Survey: „Radio and television and prevention of addictive diseases“, realized by the Radio-television of Serbia for the purpose of establishing informative-educational role of electronic media in the field of health, are also considered. Project „Mental Capital and Wellbeing“ and TV campaign for mental health promotion, realized in England, are quoted as an illustration of necessary strategic and multidisciplinary approach to mental health promotion, in which media represent an important complementary strategy.

  1. Public perception of mental health in Iraq

    Directory of Open Access Journals (Sweden)

    Al-Hasoon Saad

    2010-10-01

    Full Text Available Abstract Background People who suffer from mental illness, the professionals who treat them, and indeed the actual concept of mental illness are all stigmatised in public perception and often receive very negative publicity. This paper looks at Iraq, which has a population of 30 million who are mainly Moslem. Mental health services and professionals have historically been sparse in Iraq with 1 psychiatrist per 300,000 before 2003 falling to 1 per million until recently and 1 primary care centre (40 Healthcare Workers including 4 General Practitioners to 35,000 population, compared with 1 GP per 1700 population in the UK. Methods We aimed to assess public attitudes and perceptions to mental illness. Participants were asked to complete a questionnaire (additional file 1, which was designed specifically for Iraqi contexts and was made available in 2 languages. The survey was carried out in 500 participants' homes across 2 districts of Baghdad. Additional file 1 Public Perception of Mental Illness Questionnaire. Click here for file Results The response rate of the survey was 86.4%. The paper shows respondents views on the aetiology of mental illness, perceptions of people with mental illness and attitudes towards care and treatment of people with mental illness. Conclusions This survey of public attitudes towards mental illness in Iraq has shown that community opinion about the aetiology of mental illness is broadly compatible with scientific evidence, but understanding of the nature of mental illness, its implications for social participation and management remains negative in general.

  2. Why focus on mental health systems?

    Directory of Open Access Journals (Sweden)

    Minas Harry

    2007-08-01

    Full Text Available Abstract The global situation for people with mental illness – in developing and developed countries – is dire. Legislative and human rights protections are frequently lacking. Mental health budgets are inadequate. There are insufficient numbers of skilled policy makers, managers and clinicians. Communities are poorly informed about mental health and illness and not well organised for purposes of advocacy. In most of the world, mental health services are inaccessible or of poor quality. Most people who would benefit from psychiatric treatment and rehabilitation do not have affordable access to such services. Leadership – at all levels – for mental health system development needs to be greatly strengthened. While mental health research attention and funds are devoted predominantly to neuroscience and clinical research, we believe that the highest global mental health research priority is mental health systems research. There is an urgent need to focus on the development of effective, appropriate, affordable mental health services. The evidence base for such development is currently weak. The International Journal of Mental Health Systems aims to stimulate greater attention to the central importance of building functioning mental health systems. Rapid publication and global reach through open access will make this journal a resource for all those who wish to contribute to such development.

  3. [Distant mental influence on living organisms].

    Science.gov (United States)

    Bonilla, Ernesto

    2013-12-01

    This article reviews studies of distant mental influence on living organisms, including mental suggestions of sleeping and awakening, mental influence at long distances, mental interactions with remote biological systems, mental effects on physiological activity and the sense of being stared at. Significant effects of distant mental influence have been shown in several randomized controlled trials in humans, animals, plants, bacteria and cells in the laboratory. Although distant mental influence on living organisms appears to contradict our ordinary sense of reality and the laws defined by conventional science, several hypotheses have been proposed to explain the observed effects; they include skeptical, signal transfer, field, multidimensional space/time and quantum mechanics hypotheses. In conclusion, as the progress of physics continues to expand our comprehension of reality, a rational explanation for distant mind-matter interaction will emerge and, as history has shown repeatedly, the supernatural events will evolve into paranormal and then, into normal ones, as the scientific frontiers expand. PMID:24502184

  4. Hinduism, marriage and mental illness.

    Science.gov (United States)

    Sharma, Indira; Pandit, Balram; Pathak, Abhishek; Sharma, Reet

    2013-01-01

    For Hindus, marriage is a sacrosanct union. It is also an important social institution. Marriages in India are between two families, rather two individuals, arranged marriages and dowry are customary. The society as well as the Indian legislation attempt to protect marriage. Indian society is predominantly patriarchal. There are stringent gender roles, with women having a passive role and husband an active dominating role. Marriage and motherhood are the primary status roles for women. When afflicted mental illness married women are discriminated against married men. In the setting of mental illness many of the social values take their ugly forms in the form of domestic violence, dowry harassment, abuse of dowry law, dowry death, separation, and divorce. Societal norms are powerful and often override the legislative provisions in real life situations. PMID:23858262

  5. Causal reasoning with mental models.

    Science.gov (United States)

    Khemlani, Sangeet S; Barbey, Aron K; Johnson-Laird, Philip N

    2014-01-01

    This paper outlines the model-based theory of causal reasoning. It postulates that the core meanings of causal assertions are deterministic and refer to temporally-ordered sets of possibilities: A causes B to occur means that given A, B occurs, whereas A enables B to occur means that given A, it is possible for B to occur. The paper shows how mental models represent such assertions, and how these models underlie deductive, inductive, and abductive reasoning yielding explanations. It reviews evidence both to corroborate the theory and to account for phenomena sometimes taken to be incompatible with it. Finally, it reviews neuroscience evidence indicating that mental models for causal inference are implemented within lateral prefrontal cortex. PMID:25389398

  6. Causal reasoning with mental models

    Directory of Open Access Journals (Sweden)

    Sangeet eKhemlani

    2014-10-01

    Full Text Available This paper outlines the model-based theory of causal reasoning. It postulates that the core meanings of causal assertions are deterministic and refer to temporally-ordered sets of possibilities: A causes B to occur means that given A, B occurs, whereas A enables B to occur means that given A, it is possible for B to occur. The paper shows how mental models represent such assertions, and how these models underlie deductive, inductive, and abductive reasoning yielding explanations. It reviews evidence both to corroborate the theory and to account for phenomena sometimes taken to be incompatible with it. Finally, it reviews neuroscience evidence indicating that mental models for causal inference are implemented within lateral prefrontal cortex.

  7. Mental fatigue: costs and benefits.

    Science.gov (United States)

    Boksem, Maarten A S; Tops, Mattie

    2008-11-01

    A framework for mental fatigue is proposed, that involves an integrated evaluation of both expected rewards and energetical costs associated with continued performance. Adequate evaluation of predicted rewards and potential risks of actions is essential for successful adaptive behaviour. However, while both rewards and punishments can motivate to engage in activities, both types of motivated behaviour are associated with energetical costs. We will review findings that suggest that the nucleus accumbens, orbitofrontal cortex, amygdala, insula and anterior cingulate cortex are involved evaluating both the potential rewards associated with performing a task, as well as assessing the energetical demands involved in task performance. Behaviour will only proceed if this evaluation turns out favourably towards spending (additional) energy. We propose that this evaluation of predicted rewards and energetical costs is central to the phenomenon of mental fatigue: people will no longer be motivated to engage in task performance when energetical costs are perceived to outweigh predicted rewards.

  8. Hinduism, marriage and mental illness.

    Science.gov (United States)

    Sharma, Indira; Pandit, Balram; Pathak, Abhishek; Sharma, Reet

    2013-01-01

    For Hindus, marriage is a sacrosanct union. It is also an important social institution. Marriages in India are between two families, rather two individuals, arranged marriages and dowry are customary. The society as well as the Indian legislation attempt to protect marriage. Indian society is predominantly patriarchal. There are stringent gender roles, with women having a passive role and husband an active dominating role. Marriage and motherhood are the primary status roles for women. When afflicted mental illness married women are discriminated against married men. In the setting of mental illness many of the social values take their ugly forms in the form of domestic violence, dowry harassment, abuse of dowry law, dowry death, separation, and divorce. Societal norms are powerful and often override the legislative provisions in real life situations.

  9. The 2013 Canadian Forces Mental Health Survey

    Science.gov (United States)

    Bennett, Rachel E.; Boulos, David; Garber, Bryan G.; Jetly, Rakesh; Sareen, Jitender

    2016-01-01

    Objective: The 2013 Canadian Forces Mental Health Survey (CFMHS) collected detailed information on mental health problems, their impacts, occupational and nonoccupational determinants of mental health, and the use of mental health services from a random sample of 8200 serving personnel. The objective of this article is to provide a firm scientific foundation for understanding and interpreting the CFMHS findings. Methods: This narrative review first provides a snapshot of the Canadian Armed Forces (CAF), focusing on 2 key determinants of mental health: the deployment of more than 40,000 personnel in support of the mission in Afghanistan and the extensive renewal of the CAF mental health system. The findings of recent population-based CAF mental health research are reviewed, with a focus on findings from the very similar mental health survey done in 2002. Finally, key aspects of the methods of the 2013 CFMHS are presented. Results: The findings of 20 peer-reviewed publications using the 2002 mental health survey data are reviewed, along with those of 25 publications from other major CAF mental health research projects executed over the past decade. Conclusions: More than a decade of population-based mental health research in the CAF has provided a detailed picture of its mental health and use of mental health services. This knowledge base and the homology of the 2013 survey with the 2002 CAF survey and general population surveys in 2002 and 2012 will provide an unusual opportunity to use the CFMHS to situate mental health in the CAF in a historical and societal perspective. PMID:27270738

  10. Causal reasoning with mental models

    OpenAIRE

    Khemlani, Sangeet S.; Barbey, Aron K.; Johnson-Laird, Philip N

    2014-01-01

    This paper outlines the model-based theory of causal reasoning. It postulates that the core meanings of causal assertions are deterministic and refer to temporally-ordered sets of possibilities: A causes B to occur means that given A, B occurs, whereas A enables B to occur means that given A, it is possible for B to occur. The paper shows how mental models represent such assertions, and how these models underlie deductive, inductive, and abductive reasoning yielding explanations. It reviews e...

  11. MENTAL DEPRESSION AND KUNDALINI YOGA

    OpenAIRE

    Devi, Sanjenbam Kunjeshwori; Chansauria, J. P. N.; Udupa, K. N.

    1986-01-01

    In cases of mental depression, the plasma serotonin, melatonin and glutamate levels are increased along with the lowering of urinary – 5 – hydroxyindole acetic acid, plasma monoamine oxidase and cortisol levels following three and six months Practice of Kundalini Yoga. The pulse rate and blood pressure in these patients are also lowered after Kundalini Yoga practice. Thus, the practice of Kundalini Yoga helps to maintain a perfect homeostasis by bringing an equilibrium between the sympathetic...

  12. Income Inequality and Mental Health

    OpenAIRE

    Grace Lordan; Prasada Rao; Lucy Bechtel

    2012-01-01

    The causal association between absolute income and health is well established, however the relationship between income inequality and health is not. The conclusions from the received studies vary across the region or country studied and/or the methodology employed. Using the Household, Income and Labour Dynamics in Australia panel survey, this paper investigates the relationship between mental health and inequality in Australia. A variety of income inequality indices are calculated to test bo...

  13. Mental and Medical sciences today

    OpenAIRE

    David L. Rowland; Ion G. Motofei

    2014-01-01

    Journal of Mind and Medical Sciences is designed as a free online, open access, interdisciplinary and peer-reviewed journal. The JMMS mission is to address ideas and issues related to mind and medicine, publishing scientific review and empirical papers regarding mental and medical health and disease. Our goal is to stimulate constructive debates among scholars, researchers, physicians, scientists and health professionals with respect to the latest discoveries and trends in the field. The jour...

  14. [Mental capacity of psychiatric patients].

    Science.gov (United States)

    Wu, Kevin Chien-Chang

    2010-12-01

    Nearly every society maintains legal norms that define those members of society qualified to participate in social affairs. Mental capacity and legal competence are deemed necessary conditions for legal actions to have legal validity. On Nov. 23, 2009, newly revised adult guardianship provisions came into effect in Taiwan. However, there has been lack of discussion with regard to how assessments of mental capacity and legal competence should be conducted on psychiatric patients. This paper reviewed relevant overseas literature on this subject and followed common practice in separating legal mental capacity into causal and functional components. The causal component predicates the diseases and illnesses that render the disability, while the functional component represents legally substantial impairments in terms of cognition, emotion and behavior. The paper explored functional component contents, including finance management, individual health care, independence in daily life, interpersonal relationships and communing. Findings pointed out that in setting up competence standards, a trade-off between respect for autonomy and beneficence is unavoidable. As Taiwan does not have rich empirical data on competence assessments and decisions, collaboration between the legal and psychiatric professions is recommended to engage in relevant research to enhance legal consistencies and the science of competence assessment.

  15. Mental Illness and Mental Health Defenses: Perceptions of the Criminal Bar.

    Science.gov (United States)

    Frierson, Richard L; Boyd, Mary S; Harper, Angela

    2015-12-01

    As the number of state mental hospital beds declines, persons with persistent mental illness are increasingly encountered by those working in the legal system. Attorneys may have little experience in working with this population. This research involved a 32-item written survey of the 492 members of the criminal bar in South Carolina. Demographic variables were surveyed, and attorneys were asked to define two common terms describing mental illnesses (delusion and psychosis) and the legal criteria for verdicts of not guilty by reason of insanity and guilty but mentally ill. They were also asked to identify the most severe mental illness (schizophrenia). Attitudes about these verdicts and about working with defendants who are mentally ill were also surveyed. Results indicate that attorneys are fairly knowledgeable about mental illness, but not verdicts involving mental illness, particularly the verdict of guilty but mentally ill. Most attorneys prefer to work with clients who do not have mental illness. However, as they become more experienced interacting with defendants who are affected by mental illness, they become more knowledgeable and are more willing to defend them. A large majority believe that their law school education about mental illness was inadequate. When comparing attorney occupations, public defenders were the most knowledgeable about mental illness and mental health defenses, followed by prosecutors and private defense attorneys. Judges were the least knowledgeable group.

  16. A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review

    Directory of Open Access Journals (Sweden)

    Siham Chafai Elalaoui

    2011-01-01

    Full Text Available Dyggve-Melchior-Clausen (DMC syndrome is a rare autosomal recessive disorder. It is a spondyloepimetaphyseal dysplasia associated with mental retardation. Clinical manifestations include coarse facies, microcephaly, short trunk dwarfism, and mental retardation. Mutations in Dymeclin gene (DYM, mapped to chromosome 18q21.1, is responsible for DMC. We report here the observation of a consanguineous Moroccan patient having DMC syndrome. The molecular studies showed a previously reported homozygous mutation at c.1878delA of DYM gene. We discuss this recurrent mutation in Moroccan patients with DMC syndrome with a review.

  17. Congenital Insensitivity to Pain with Anhidrosis (CIPA Manifested with Chronic Osteomyelitis; A Case Report

    Directory of Open Access Journals (Sweden)

    Fatih Kucukdurmaz

    2014-03-01

    Full Text Available      Chronic osteomyelitis is a very rare entity among children. Also congenital insensitivity to pain with anhidrosis (CIPA is a very rare autosomal-recessive disease  of the nervous system which is one of the hereditary sensory and autonomic neuropathies (HSAN. Loss of pain, fever due to anhidrosis, recurrent fractures, chronic osteomyelitis, mental retardation, self mutilation, wound ulcers can be seen. We present a 10-year-old boy with loss of generalized pain sensation, chronic osteomyelitis on his right distal femur, bilateral corneal opacities, and decreased mental capacity.

  18. [Perioperative disorders of mental functions].

    Science.gov (United States)

    Tonković, Dinko; Adam, Visnja Nesek; Kovacević, Marko; Bogović, Tajana Zah; Drvar, Zeljko; Baronica, Robert

    2012-03-01

    Mental disorders are characterized by disturbances of thought, perception, affect and behavior, which occur as a result of brain damage. Recognizing and treating these conditions is necessary not only for psychiatrists but for all physicians. Disorder of mental function is one of the most common associated conditions in intensive care unit (ICU) patients. However, disturbances of mental function often remain unrecognized. In ICU patients, different types of mental function disorders may develop. They range from sleep disorders, severe depression, anxiety, posttraumatic stress disorder (PTSD) to cognitive disorders including delirium. The causes of mental dysfunction in ICU patients can be divided into environmental and medical. Cognitive disorders are related to mental processes such as learning ability, memory, perception and problem solving. Cognitive disorders are usually not prominent in the early postoperative period and in many cases are discovered after hospital discharge because of difficulties in performing everyday activities at home or at work. The etiology of postoperative cognitive impairment is unclear. Older age, previous presence of cognitive dysfunction, severity of disease, and polypharmacy with more than four drugs are some of the risk factors identified. Delirium is a multifactorial disorder. It is an acute confusional state characterized by alteration of consciousness with reduced ability to focus, sustain, or shift attention. It is considered as the most common form of mental distress in ICU patients. Nearly 30% of all hospitalized patients pass through deliriant phase during their hospital stay. Delirium can last for several days to several weeks. Almost always it ends with complete withdrawal of psychopathological symptoms. Sometimes it can evolve into a chronic brain syndrome (dementia). The causes are often multifactorial and require a number of measures to ease the symptoms. Delirious patient is at risk of complications of immobility and

  19. Attitudes of psychiatry residents toward mental illness

    Directory of Open Access Journals (Sweden)

    Pejović-Milovančević Milica

    2007-01-01

    Full Text Available Introduction. Attitudes of lay people and physicians towards mentally ill patients are frequently highly biased. The aim of this study was to investigate differences in attitudes of psychiatry and internal medicine residents toward mental illness and to establish the relationship between their attitudes and their personal characteristics. Material and methods. The sample consisted of 45 psychiatry and 36 internal medicine residents. The attitudes toward mental illness were assessed using Opinions about Mental Illness Questionnaire (OMI and personality traits were examined using the Eysenck Personality Questionnaire (EPQ. Results. Our findings showed that in regard to internal medicine residents, psychiatry residents do not consider mentally ill patients to be inferior and dangerous. Psychiatry residents have a benevolent attitude toward the mentally ill. Personality traits of psychiatry residents were not related to their opinions about mental illness. Discussion. The results suggest that there is a need to develop strategies that would bring about changes in the curriculum of training programs for medical residents, including proper training in mental health issues. Such strategies should help in destigmatization of persons with mental disorders and increase the competence of physicians to deal with mentally ill. .

  20. Nudos mentales : Salud mental : Una introducción

    OpenAIRE

    Ingeberg, Mette Holme; Grudt, Solveig Kirsti

    2012-01-01

    Boken er primært rettet mot studenter innenfor områdene helse- og sosialfag. Den vil også være nyttig for mennesker med psykiske problemer og deres pårørende, og for helsepersonell for øvrig. Et viktig mål med denne boken har vært å gjøre egne erfaringer og kompetanse på området psykisk helse tilgjengelig for helsepersonell i Nicaragua. Mye av boken er basert på boken Mentale knagger, skrevet av Mette Holme Ingeberg, Dag-Willy Tallaksen og Børge Eide i 2006.

  1. From Mental Health to Mental Wealth in Athletes: Looking Back and Moving Forward.

    Science.gov (United States)

    Uphill, Mark; Sly, Dan; Swain, Jon

    2016-01-01

    Considerations of athletes' mental health are typically framed in the language of mental illness (Hughes and Leavey, 2012), a situation that contributes to stigmatization, denial, and the prevention of effective care. In this article, we provide a critical, narrative review of the extant literature on athlete mental health. Specifically, we begin by providing a brief synopsis of the extant literature on athletes' mental health, illustrating both what we know about (i) the prevalence of mental health issues in sport and (ii) variables contributing to help-seeking behaviors in athletes. Against, this backdrop, we outline Keyes' (2002) two-continuum model of mental health as a theoretical framework that has considerable promise in understanding, talking-about, and intervening to enhance, athletes' mental health. This model posits two related, but distinct dimensions: one continuum indicates the presence or absence of mental health, the other the presence or absence of mental illness. From this perspective, a number of possibilities emerge. For instance, athletes could simultaneously have both positive mental health and experience of mental illness. Alternatively, athletes could be free from mental illness, but in Keyes' terms be "languishing" (i.e., experiencing low levels of mental health). Implications for interventions based on the two-continuum model are discussed, particularly drawing on assets-based approaches to enhance flourishing (Theokas et al., 2005). We conclude the review by considering limitations in our understanding of how to promote flourishing and suggest avenues for further research.

  2. From Mental Health to Mental Wealth in Athletes: Looking Back and Moving Forward.

    Science.gov (United States)

    Uphill, Mark; Sly, Dan; Swain, Jon

    2016-01-01

    Considerations of athletes' mental health are typically framed in the language of mental illness (Hughes and Leavey, 2012), a situation that contributes to stigmatization, denial, and the prevention of effective care. In this article, we provide a critical, narrative review of the extant literature on athlete mental health. Specifically, we begin by providing a brief synopsis of the extant literature on athletes' mental health, illustrating both what we know about (i) the prevalence of mental health issues in sport and (ii) variables contributing to help-seeking behaviors in athletes. Against, this backdrop, we outline Keyes' (2002) two-continuum model of mental health as a theoretical framework that has considerable promise in understanding, talking-about, and intervening to enhance, athletes' mental health. This model posits two related, but distinct dimensions: one continuum indicates the presence or absence of mental health, the other the presence or absence of mental illness. From this perspective, a number of possibilities emerge. For instance, athletes could simultaneously have both positive mental health and experience of mental illness. Alternatively, athletes could be free from mental illness, but in Keyes' terms be "languishing" (i.e., experiencing low levels of mental health). Implications for interventions based on the two-continuum model are discussed, particularly drawing on assets-based approaches to enhance flourishing (Theokas et al., 2005). We conclude the review by considering limitations in our understanding of how to promote flourishing and suggest avenues for further research. PMID:27445903

  3. From Mental Health to Mental Wealth in Athletes: Looking Back and Moving Forward

    Science.gov (United States)

    Uphill, Mark; Sly, Dan; Swain, Jon

    2016-01-01

    Considerations of athletes’ mental health are typically framed in the language of mental illness (Hughes and Leavey, 2012), a situation that contributes to stigmatization, denial, and the prevention of effective care. In this article, we provide a critical, narrative review of the extant literature on athlete mental health. Specifically, we begin by providing a brief synopsis of the extant literature on athletes’ mental health, illustrating both what we know about (i) the prevalence of mental health issues in sport and (ii) variables contributing to help-seeking behaviors in athletes. Against, this backdrop, we outline Keyes’ (2002) two-continuum model of mental health as a theoretical framework that has considerable promise in understanding, talking-about, and intervening to enhance, athletes’ mental health. This model posits two related, but distinct dimensions: one continuum indicates the presence or absence of mental health, the other the presence or absence of mental illness. From this perspective, a number of possibilities emerge. For instance, athletes could simultaneously have both positive mental health and experience of mental illness. Alternatively, athletes could be free from mental illness, but in Keyes’ terms be “languishing” (i.e., experiencing low levels of mental health). Implications for interventions based on the two-continuum model are discussed, particularly drawing on assets-based approaches to enhance flourishing (Theokas et al., 2005). We conclude the review by considering limitations in our understanding of how to promote flourishing and suggest avenues for further research. PMID:27445903

  4. Mental life in the space of reasons

    DEFF Research Database (Denmark)

    Brinkmann, Svend

    2006-01-01

    causal ones. The consequence is that mental life is irreducibly moral, and if the sciences of mental life are to become adequate to deal with their subject matter, they should construe themselves as what was once referred to as moral sciences. It is argued that the source of the normativity of mental......This paper argues the Wittgensteinian point that we can undo the psychologizing of psychology by conceiving of mental life as lived in the space of reasons. It is argued that mental life - human action, feeling and thinking - is constituted by normative connections and necessities rather than...... life is found in historically evolved social practices,although not all normativity is conventional or historically contingent. Finally, some objections to the idea that mental life is normative are discussed; first, that this idea represents an intellectualist or rationalist fallacy, and second...

  5. Mental and Medical sciences today

    Directory of Open Access Journals (Sweden)

    David L. Rowland

    2014-10-01

    Full Text Available Journal of Mind and Medical Sciences is designed as a free online, open access, interdisciplinary and peer-reviewed journal. The JMMS mission is to address ideas and issues related to mind and medicine, publishing scientific review and empirical papers regarding mental and medical health and disease. Our goal is to stimulate constructive debates among scholars, researchers, physicians, scientists and health professionals with respect to the latest discoveries and trends in the field. The journal pays special attention to interdisciplinary and integrative perspectives, focusing primarily on papers approaching mind and body as a unitary domain of study. Our supposition is that the study of the human body and mind needs to be better integrated—in fact should not be studied in isolation from one another, a position that originates fact from the collaborative efforts of the two main editors, namely a psychologist and a physician. As an example, the mind body problem—an age-old question—is still a much debated topic. Despite enormous progress in neuroimaging, it remains unclear how abstract ideas come to “control” the physical brain and body to generate actions, responses, and behaviors. Thus, abstract ideas of the mind (e.g., the desire to seek a promotion, to become famous, or to help those surrounding you can drive decision making and life choices more strongly than the concrete/ biological needs of the body (food, warmth, shelter, etc.. From a pathological perspective, heavy psychological and physical burden can “overload” the mind, creating a mental condition of stress which may then negatively impact bodily function through symptoms such as gastric ulcer, hypertension, and so on. From the opposite perspective, the body and brain can interfere with and direct the functioning of mind. The need for sleep, for example, is due to fluctuation of neuromodulators within the brain. When such neuromodulators are pharmacologically manipulated

  6. Multilinguals’ language choice for mental calculation

    OpenAIRE

    Dewaele, Jean-Marc

    2007-01-01

    The present study investigates self-reported language choice for mental calculations among 1,454 adult multilinguals from a variety of linguistic, social and ethnic backgrounds. As mental calculation is a complex cognitive operation involving both language-dependent and language independent processes, we sought to establish a baseline of first language (L1) or foreign language(s) (LX) use for mental calculation and identify the factors that influence multilinguals’ choice of...

  7. Mindful Parenting in Mental Health Care

    OpenAIRE

    Bogels, S.M.; Lehtonen, A.; Restifo, K.

    2010-01-01

    Mindfulness is a form of meditation based on the Buddhist tradition, which has been used over the last two decades to successfully treat a multitude of mental health problems. Bringing mindfulness into parenting ("mindful parenting") is one of the applications of mindfulness. Mindful parenting interventions are increasingly being used to help prevent and treat mental disorders in children, parenting problems, and prevent intergenerational transmission of mental disorders from parents to child...

  8. Educating occupational therapists for mental health practice

    OpenAIRE

    Craik, C.; Austin, C

    2000-01-01

    The last of four elements of the Mental Health Project, established by the College of Occupational Therapists to produce a position paper on the way ahead for research, education and practice in occupational therapy in mental health (Craik et al 1998a), focused on educating occupational therapy students to work in mental health. First, the views of practitioners about their pre-registration education were derived from one component of the practitioners' survey (Craik et al 1998b). One hun...

  9. Challenges in mental health nursing: current opinion

    OpenAIRE

    Sabella, Donna

    2014-01-01

    Donna Sabella, Theresa Fay-Hillier College of Nursing and Health Professions, Drexel University, Philadelphia, PA, USA Abstract: The current mental health care system in the US continues to struggle with providing adequate care and services to all that require it due to limited resources, biases from both other professions and the public, and the complexities of treatment of many of those individuals or populations that suffer from mental illness. Mental health nurses, also referred to as ps...

  10. Neurophysiological Correlates of Various Mental Perspectives

    Directory of Open Access Journals (Sweden)

    Thilo eHinterberger

    2014-08-01

    Full Text Available A common view of consciousness is that our mind presents emotions, experiences and images in an internal mental (re-presentation space which in a state of wakefulness is triggered by the world outside. Consciousness can be defined as the observation of this inner mental space. We propose a new model, in which the state of the conscious observer is defined by the observer’s mental position and focus of attention. The mental position of the observer can either be within the mental self (intrapersonal space, in the mental outer world (extrapersonal space or in an empathic connection, i.e. within the intrapersonal space of another person (perspective taking. The focus of attention can be directed towards the self or towards the outside world. This mental space model can help us to understand the patterns of relationships and interactions with other persons as they occur in social life.To investigate the neurophysiological correlates and discriminability of the different mental states, we conducted an EEG experiment measuring the brain activity of 16 subjects via 64 electrodes while they engaged in different mental positions (intrapersonal, extrapersonal, perspective taking with different attentional foci (self, object. Compared to external mental locations, internal ones showed significantly increased alpha2 power, especially when the observer was focusing on an object. Alpha2 and beta2 were increased in the empathic condition compared to the extrapersonal perspective. Delta power was significantly higher when the attentional focus was directed towards an object in comparison to the participant’s own self. This exploratory study demonstrates highly significant differences between various mental locations and foci, suggesting that the proposed categories of mental location and intra- and interpersonal attentional foci are not only helpful theoretical concepts but are also physiologically relevant and therefore may relate to basic brain processing

  11. The Fight against Stigma toward Mental Illness

    Directory of Open Access Journals (Sweden)

    Olcay Cam

    2010-02-01

    Full Text Available In many health conditions, stigma is receiving increasing attention. Public stigmatization toward mental illness can affect particularly the patients and family memberships to help seeking behavior and treatment. These stigmatized persons in the society are deprived of rights and benefits. In this paper, reasons and consequences of stigma associated with mental illness are reviewed and combat against mental illnesses originated stigma are discussed. [TAF Prev Med Bull 2010; 9(1.000: 71-78

  12. Anorexia nervosa e retardo mental

    Directory of Open Access Journals (Sweden)

    Adriana Trejger Kachani

    2011-01-01

    Full Text Available OBJETIVO: Revisar a literatura pertinente, observando a prevalência, etiopatogenia, aspectos nutricionais, diagnóstico e tratamento da anorexia nervosa (AN em pacientes com retardo mental (RM. MÉTODO: Revisão bibliográfica realizada nos sistemas Medline, SciELO e PubMed usando os descritores "transtornos alimentares", "anorexia nervosa" e "retardo mental". RESULTADOS: A AN pode se manifestar de formas atípicas em indivíduos com RM, exigindo critérios diagnósticos específicos. O mais utilizado atualmente é o Diagnostic Criteria for Psychiatric Disorders for Use with Adults with Learning Disabilities/Mental Retardation, conhecido por DC-LC. A prevalência é incerta e o tratamento ainda não está estabelecido, apesar de exigir treinamento específico da equipe. A alimentação costuma ser "pobre" e alimentos que engordam normalmente são evitados. Na maioria das vezes, é difícil acessar a complexa psicopatologia da AN nesses pacientes, em virtude das dificuldades de obter o relato de insatisfação e/ou distorção da imagem corporal, baixa autoestima e crenças alimentares. CONCLUSÃO: Muitos fatores indicam a necessidade de maiores estudos de AN no RM, entre eles a falta de critérios diagnósticos próprios validados e diretrizes para tratamento. Paralelamente, o debate da forma de acesso à conceitualização e ao tratamento dos distúrbios da imagem corporal nessa população deve ser intensificado.

  13. New mental health indicators provide a snapshot on performance of the mental health system in Canada.

    Science.gov (United States)

    Sandoval, Carolyn; Couris, Chantal; Leeb, Kira

    2012-01-01

    Although the general hospital remains an important place for stabilizing crises, most services for mental illnesses are provided in outpatient/community settings. In the absence of comprehensive data at the community level, data that are routinely collected from general hospitals can provide insights on the performance of mental health services for people living with mental illness or poor mental health. This article describes three new indicators that provide a snapshot on the performance of the mental health system in Canada: self-injury hospitalization rate, 30-day readmission rate for mental illness and percentage of patients with repeat hospitalizations for mental illness. Findings suggest a need for the early detection and treatment of mental illnesses and for optimal transitions between general hospitals and community services.

  14. Mental Health of Young Refugees.

    Science.gov (United States)

    McGuinness, Teena M; Durand, Simone C

    2015-12-01

    Children and adolescents exposed to violence and upheaval of war and relocation are at high risk of developing posttraumatic stress disorder (PTSD) and depression. Rates of PTSD among refugee children may exceed 50%. Additional stressors encountered while adjusting to host cultures add another layer of difficulty. Most refugee children struggling with symptoms of PTSD or depression are never linked with appropriate mental health care resources. Psychiatric nurses can serve a critical function in the identification and treatment of refugee children experiencing PTSD and depression. PMID:26653091

  15. Altered Mental Status and Delirium.

    Science.gov (United States)

    Wilber, Scott T; Ondrejka, Jason E

    2016-08-01

    Older patients who present to the emergency department frequently have acute or chronic alterations of their mental status, including their level of consciousness and cognition. Recognizing both acute and chronic changes in cognition are important for emergency physicians. Delirium is an acute change in attention, awareness, and cognition. Numerous life-threatening conditions can cause delirium; therefore, prompt recognition and treatment are critical. The authors discuss an organized approach that can lead to a prompt diagnosis within the time constraints of the emergency department. PMID:27475019

  16. Orthopaedic Problems of the Mentally Retarded

    Science.gov (United States)

    McSweeney, Anthony

    1972-01-01

    Problems encountered by orthopedic surgeons treating the mentally retarded are identified, and cooperation among pediatricians, psychiatrists, psychologists, social workers, physiotherapists, occupational therapists, and orthopedic surgeons is recommended. (GW)

  17. Childhood and adolescence: challenges in mental health.

    Science.gov (United States)

    Shrivastava, Saurabh Rambiharilal; Shrivastava, Prateek Saurabh; Ramasamy, Jegadeesh

    2013-05-01

    Mental health is an integral and essential component of health. The World Health Organization (WHO) constitution states: "Health is a state of complete physical, mental and social well-being and not merely the absence of disease or infirmity." More than 450 million people suffer from mental disorders worldwide. In India, mental health services, especially for children and adolescents, are limited both in terms of number of facilities as well as trained professionals. The majority of mental health services are restricted to urban areas, that is, medical colleges or regional mental health institutes. Mere presence of a treatment facility does not guarantee that all children/adolescents suffering from mental illness will utilize such services. In fact, most of the time there is a significant delay from the patient side in accessing mental health services either because of lack of awareness or associated stigma. It is high time to promote positive mental health in children, adolescents and their parents through health education. Parental counseling is of utmost importance in order to avoid the delay in treatment seeking.

  18. Stigma of Mental Illness-1: Clinical reflections

    Directory of Open Access Journals (Sweden)

    Amresh Shrivastava

    2012-01-01

    Full Text Available Although the quality and effectiveness of mental health treatments and services have improved greatly over the past 50 years, therapeutic revolutions in psychiatry have not yet been able to reduce stigma. Stigma is a risk factor leading to negative mental health outcomes. It is responsible for treatment seeking delays and reduces the likelihood that a mentally ill patient will receive adequate care. It is evident that delay due to stigma can have devastating consequences. This review will discuss the causes and consequences of stigma related to mental illness.

  19. Challenges in mental health nursing: current opinion

    Directory of Open Access Journals (Sweden)

    Sabella D

    2014-01-01

    Full Text Available Donna Sabella, Theresa Fay-Hillier College of Nursing and Health Professions, Drexel University, Philadelphia, PA, USA Abstract: The current mental health care system in the US continues to struggle with providing adequate care and services to all that require it due to limited resources, biases from both other professions and the public, and the complexities of treatment of many of those individuals or populations that suffer from mental illness. Mental health nurses, also referred to as psychiatric nurses, are impacted by those same biases, limited resources, and complexities in their role. This paper provides a brief history of mental health nursing and a discussion of the current challenges faced within the profession. It will also include how the public's perception of both those who have mental illness and those who treat it is based on the sensationalism of those who are violent, and misunderstanding of current treatments. It is imperative that mental health nurses continue to define and educate other health care professionals as well as the general public of the role of the mental health nurse and those who suffer from mental illness. Unfortunately, some of the same bias that was present in the 1930s remains today, but perhaps with perseverance and education it will not continue into the future. Keywords: mental health, psychiatric nursing, pre- licensure, post-licensure challenges, professional obstacles, public perception

  20. Promotion of mental health in children of parents with a mental disorder

    OpenAIRE

    Maria Cristina Verrocchio; Alessandra Ambrosini; Mario Fulcheri

    2013-01-01

    Mental disorders are associated with many difficulties in the activities of daily living, work, relationships and family, and they determine high social and economic costs that represent an important public health problem. The literature has shown that children of parents with mental disorders grow up in environments that are potentially harmful to their mental health and are at risk of neglect and maltreatment. Interventions to prevent mental disorders and psychological symptoms of children ...

  1. Study on discriminant analysis by military mental disorder prediction scale for mental disorder of new recruits

    OpenAIRE

    Zhang, Li-yi; Hong-hui WEI; Guang-jian WANG; Fang-bin CHEN; Sun, Jian; Li, Ning; Gao, Zhi-Qin

    2011-01-01

    Objective To examine the predictive role of the Military Mental Disorder Prediction Scale on the mental disorder of new recruits.Methods The present study examined 115 new recruits diagnosed with mental disorder and 115 healthy new recruits.The recruits were tested using the Military Mental Disorder Prediction Scale.The discriminant function was built by discriminant analysis method.The current study analyzed the predictive value of 11 factors(family medical record and past medical record(X1)...

  2. Mental Health Mobile Apps: From Infusion to Diffusion in the Mental Health Social System.

    Science.gov (United States)

    East, Marlene Lynette; Havard, Byron C

    2015-01-01

    The roles of mental health educators and professionals in the diffusion of mental health mobile apps are addressed in this viewpoint article. Mental health mobile apps are emerging technologies that fit under the broad heading of mobile health (mHealth). mHealth, encompassed within electronic health (eHealth), reflects the use of mobile devices for the practice of public health. Well-designed mental health mobile apps that present content in interactive, engaging, and stimulating ways can promote cognitive learning, personal growth, and mental health enhancement. As key influencers in the mental health social system, counselor educators and professional associations may either help or hinder diffusion of beneficial mHealth technologies. As mental health mobile apps move towards ubiquity, research will continue to be conducted. The studies published thus far, combined with the potential of mental health mobile apps for learning and personal growth, offer enough evidence to compel mental health professionals to infuse these technologies into education and practice. Counselor educators and professional associations must use their influential leadership roles to train students and practitioners in how to research, evaluate, and integrate mental health mobile apps into practice. The objectives of this article are to (1) increase awareness of mHealth and mental health mobile apps, (2) demonstrate the potential for continued growth in mental health mobile apps based on technology use and acceptance theory, mHealth organizational initiatives, and evidence about how humans learn, (3) discuss evidence-based benefits of mental health mobile apps, (4) examine the current state of mHealth diffusion in the mental health profession, and (5) offer solutions for impelling innovation diffusion by infusing mental health mobile apps into education, training, and clinical settings. This discussion has implications for counselor educators, mental health practitioners, associations

  3. Outcomes of Nordic mental health systems: life expectancy of patients with mental disorders

    DEFF Research Database (Denmark)

    Wahlbeck, Kristian; Westman, Jeanette; Nordentoft, Merete;

    2011-01-01

    People with mental disorders evince excess mortality due to natural and unnatural deaths. The relative life expectancy of people with mental disorders is a proxy measure of effectiveness of social policy and health service provision.......People with mental disorders evince excess mortality due to natural and unnatural deaths. The relative life expectancy of people with mental disorders is a proxy measure of effectiveness of social policy and health service provision....

  4. Trends in Classification Usage in the Mental Retardation Literature.

    Science.gov (United States)

    Taylor, Ronald L.; Kaufmann, Steve

    1991-01-01

    A total of 685 articles in "Mental Retardation,""American Journal of Mental Deficiency," and "American Journal on Mental Retardation" from 1980 through 1989 were examined. The mental retardation classification system developed by the American Association on Mental Retardation was used in over 50 percent of the articles, whereas the American…

  5. Transitions: A Mental Health Literacy Program for Postsecondary Students

    Science.gov (United States)

    Potvin-Boucher, Jacqueline; Szumilas, Magdalena; Sheikh, Tabinda; Kutcher, Stan

    2010-01-01

    Enhancement of mental health literacy is a mental health promotion strategy that may be effective at destigmatizing mental illness and increasing self-seeking behavior. Transitions is a mental health literacy program intended to heighten students' awareness and discussion of mental health problems and promote help-seeking behaviors. Transitions…

  6. The global burden of mental disorders: An update from the WHO World Mental Health (WMH) Surveys

    NARCIS (Netherlands)

    Kessler, R.C.; Aguilar-Gaxiola, S.; Alonso, J.; Chatterji, S.; Lee, S.; Ormel, J.; Ustun, T.B.; Wang, P.S.

    2009-01-01

    Aims - The paper reviews recent findings from the WHO World Mental Health (WMH) surveys oil the global burden of mental disorders. Methods - The WMH surveys are representative community surveys in 28 countries throughout the world aimed at providing information to mental health policy makers about t

  7. Factors Promoting Mental Health of Adolescents Who Have a Parent with Mental Illness: A Longitudinal Study

    Science.gov (United States)

    Van Loon, L. M. A.; Van De Ven, M. O. M.; Van Doesum, K. T. M.; Hosman, C. M. H.; Witteman, C. L. M.

    2015-01-01

    Background: Children of parents with mental illness have an elevated risk of developing a range of mental health and psychosocial problems. Yet many of these children remain mentally healthy. Objective: The present study aimed to get insight into factors that protect these children from developing internalizing and externalizing problems. Methods:…

  8. Deinstitutionalization: Its Impact on Community Mental Health Centers and the Seriously Mentally Ill

    Science.gov (United States)

    Kliewer, Stephen P.; McNally Melissa; Trippany, Robyn L.

    2009-01-01

    Deinstitutionalization has had a significant impact on the mental health system, including the client, the agency, and the counselor. For clients with serious mental illness, learning to live in a community setting poses challenges that are often difficult to overcome. Community mental health agencies must respond to these specific needs, thus…

  9. Racial Disparities in Mental Health Outcomes after Psychiatric Hospital Discharge among Individuals with Severe Mental Illness

    Science.gov (United States)

    Eack, Shaun M.; Newhill, Christina E.

    2012-01-01

    Racial disparities in mental health outcomes have been widely documented in noninstitutionalized community psychiatric samples, but few studies have specifically examined the effects of race among individuals with the most severe mental illnesses. A sample of 925 individuals hospitalized for severe mental illness was followed for a year after…

  10. Mental Illness and Mental Health: The Two Continua Model Across the Lifespan

    NARCIS (Netherlands)

    Westerhof, Gerben J.; Keyes, Cory L.M.

    2010-01-01

    Mental health has long been defined as the absence of psychopathologies, such as depression and anxiety. The absence of mental illness, however, is a minimal outcome from a psychological perspective on lifespan development. This article therefore focuses on mental illness as well as on three core co

  11. Factors promoting mental health of adolescents who have a parent with mental illness: A longitudinal study

    NARCIS (Netherlands)

    Loon, L.M.A. van; Ven, M.O.M. van de; Doesum, K.T.M. van; Hosman, C.M.H.; Witteman, C.L.M.

    2015-01-01

    Children of parents with mental illness have an elevated risk of developing a range of mental health and psychosocial problems. Yet many of these children remain mentally healthy. The present study aimed to get insight into factors that protect these children from developing internalizing and extern

  12. The global burden of mental disorders : An update from the WHO World Mental Health (WMH) Surveys

    NARCIS (Netherlands)

    Kessler, Ronald C.; Aguilar-Gaxiola, Sergio; Alonso, Jordi; Chatterji, Somnath; Lee, Sing; Ormel, Johan; Uestuen, T. Bedirhan; Wang, Philip S.

    2009-01-01

    Aims - The paper reviews recent findings from the WHO World Mental Health (WMH) surveys oil the global burden of mental disorders. Methods - The WMH surveys are representative community surveys in 28 countries throughout the world aimed at providing information to mental health policy makers about t

  13. Fundamentally Distributed Information Processing Integrates the Motor Network into the Mental Workspace during Mental Rotation.

    Science.gov (United States)

    Schlegel, Alexander; Konuthula, Dedeepya; Alexander, Prescott; Blackwood, Ethan; Tse, Peter U

    2016-08-01

    The manipulation of mental representations in the human brain appears to share similarities with the physical manipulation of real-world objects. In particular, some neuroimaging studies have found increased activity in motor regions during mental rotation, suggesting that mental and physical operations may involve overlapping neural populations. Does the motor network contribute information processing to mental rotation? If so, does it play a similar computational role in both mental and manual rotation, and how does it communicate with the wider network of areas involved in the mental workspace? Here we used multivariate methods and fMRI to study 24 participants as they mentally rotated 3-D objects or manually rotated their hands in one of four directions. We find that information processing related to mental rotations is distributed widely among many cortical and subcortical regions, that the motor network becomes tightly integrated into a wider mental workspace network during mental rotation, and that motor network activity during mental rotation only partially resembles that involved in manual rotation. Additionally, these findings provide evidence that the mental workspace is organized as a distributed core network that dynamically recruits specialized subnetworks for specific tasks as needed. PMID:27054403

  14. Memory Updating and Mental Arithmetic.

    Science.gov (United States)

    Han, Cheng-Ching; Yang, Tsung-Han; Lin, Chia-Yuan; Yen, Nai-Shing

    2016-01-01

    Is domain-general memory updating ability predictive of calculation skills or are such skills better predicted by the capacity for updating specifically numerical information? Here, we used multidigit mental multiplication (MMM) as a measure for calculating skill as this operation requires the accurate maintenance and updating of information in addition to skills needed for arithmetic more generally. In Experiment 1, we found that only individual differences with regard to a task updating numerical information following addition (MUcalc) could predict the performance of MMM, perhaps owing to common elements between the task and MMM. In Experiment 2, new updating tasks were designed to clarify this: a spatial updating task with no numbers, a numerical task with no calculation, and a word task. The results showed that both MUcalc and the spatial task were able to predict the performance of MMM but only with the more difficult problems, while other updating tasks did not predict performance. It is concluded that relevant processes involved in updating the contents of working memory support mental arithmetic in adults. PMID:26869971

  15. Memory updating and mental arithmetic

    Directory of Open Access Journals (Sweden)

    Cheng-Ching eHan

    2016-02-01

    Full Text Available Is domain-general memory updating ability predictive of calculation skills or are such skills better predicted by the capacity for updating specifically numerical information? Here, we used multidigit mental multiplication (MMM as a measure for calculating skill as this operation requires the accurate maintenance and updating of information in addition to skills needed for arithmetic more generally. In Experiment 1, we found that only individual differences with regard to a task updating numerical information following addition (MUcalc could predict the performance of MMM, perhaps owing to common elements between the task and MMM. In Experiment 2, new updating tasks were designed to clarify this: a spatial updating task with no numbers, a numerical task with no calculation, and a word task. The results showed that both MUcalc and the spatial task were able to predict the performance of MMM but only with the more difficult problems, while other updating tasks did not predict performance. It is concluded that relevant processes involved in updating the contents of working memory support mental arithmetic in adults.

  16. Mental Mechanisms for Topics Identification

    Directory of Open Access Journals (Sweden)

    Louis Massey

    2014-01-01

    Full Text Available Topics identification (TI is the process that consists in determining the main themes present in natural language documents. The current TI modeling paradigm aims at acquiring semantic information from statistic properties of large text datasets. We investigate the mental mechanisms responsible for the identification of topics in a single document given existing knowledge. Our main hypothesis is that topics are the result of accumulated neural activation of loosely organized information stored in long-term memory (LTM. We experimentally tested our hypothesis with a computational model that simulates LTM activation. The model assumes activation decay as an unavoidable phenomenon originating from the bioelectric nature of neural systems. Since decay should negatively affect the quality of topics, the model predicts the presence of short-term memory (STM to keep the focus of attention on a few words, with the expected outcome of restoring quality to a baseline level. Our experiments measured topics quality of over 300 documents with various decay rates and STM capacity. Our results showed that accumulated activation of loosely organized information was an effective mental computational commodity to identify topics. It was furthermore confirmed that rapid decay is detrimental to topics quality but that limited capacity STM restores quality to a baseline level, even exceeding it slightly.

  17. Mental Representations in Art Discourse

    Directory of Open Access Journals (Sweden)

    Katja Sudec

    2014-03-01

    Full Text Available The paper starts by examining the content included in the museum environment, where I write about the type of relations that emerge in a museum or artistic setting. This is followed by an observation of a social act (socialising and a chapter on the use of food in an artistic venue. At the end, I address art education via the format that I developed at the 6th Berlin Biennale. This is followed by an overview of the cognitive model of the fort-da game based on Freud’s theory via two discourse models. Here, I address discourse on art works in the form of a lecture or reading, where the art space is fictitiously present, and then move on to discuss discourse on art works in real, “present” art space. This is followed by a section on actions (Handlungen in German and methods supporting the fort-da model. The last part of the article examines the issue of “mental representations”, defining and explaining the function of mental representations with regard to the target audience of the blind and visually impaired.

  18. Mental deterioration in lafora's disease

    Directory of Open Access Journals (Sweden)

    A. Cukiert

    1990-06-01

    Full Text Available Lafora's disease is included among the progressive myoclonic epilepsies. Despite the fact that dementia is a constant finding in this disease only a few papers have studied the timing of riental deterioration. We have performed wide neuropsychological testing in two cases early diagnosed as Lafora disease. The initial neuropsychological testing was carried out by the time there were no complaints of mental deterioration in both cases. In the first case consecutive neuropsychological testing demonstrated the rapidly progressive dementia. All neuropsychological testings in these cases showed severe impairment of right parietal lobe functions. Higher cortical functions related to language and intelectual processes were beet preserved in both cases. The functions related to constructional praxis, memory and abstract concepts and processes were severily impaired. Our data suggest that mental deterioration is an early manifestation in Lafora disease, even by the time normal social life is not yet disturbed. Dominant hemisphere cognitivo functions have been less impaired than the non-dominant ones. How a diffuse illness such as Lafora disease can cause such an asymmetrical higher cortical function deficit is not yet clear.

  19. EST Table: FS936166 [KAIKOcDNA[Archive

    Lifescience Database Archive (English)

    Full Text Available ar to Low density lipoprotein receptor adapter protein 1 (Autosomal recessive hypercholesterolemia protein) ... similar to Low density lipoprotein receptor adapter protein 1 (Autosomal recessive hypercholesterolemia protein) isoform 1 [Tribolium castaneum] FS929848 fwgP ...

  20. EST Table: FS929848 [KAIKOcDNA[Archive

    Lifescience Database Archive (English)

    Full Text Available DICTED: similar to Low density lipoprotein receptor adapter protein 1 (Autosomal recessive hypercholesterolemia...1| PREDICTED: similar to Low density lipoprotein receptor adapter protein 1 (Autosomal recessive hypercholesterolemia protein) isoform 1 [Tribolium castaneum] FS929848 fwgP ...