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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

    Heterozygous copy-number variants and SNPs of CNTNAP2 and NRXN1, two distantly related members of the neurexin superfamily, have been repeatedly associated with a wide spectrum of neuropsychiatric disorders, such as developmental language disorders, autism spectrum disorders, epilepsy, and...... 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. A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

    OpenAIRE

    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 ...

  3. 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

  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...... mental retardation (NS-ARMR). The affected individuals showed low IQ and cognitive impairment without any neurological, skeletal, and biochemical abnormalities. All known NS-ARMR genes were excluded by STS markers, so autozygosity mapping by microarray single-nucleotide polymorphism (SNP) analysis were......¿=¿3.31 was calculated for the mapped region. These results suggest a novel genetic locus, MRT17, for NS-ARMR....

  5. 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

  6. 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

  7. Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?

    OpenAIRE

    Orstavik, K H; Strømme, P; van Ek, J.; Torvik, A; Skjeldal, O H

    1997-01-01

    We report two sisters with macrocephaly, epilepsy, and severe mental retardation. The first child was a 14 year old girl born at term after a normal pregnancy, with birth weight 3600 g and occipitofrontal circumference (OFC) 36 cm (75th centile). Her head size increased markedly during the first six months of life, and was later stable at 2-3 cm above the 97.5th centile. Her development was characterised by psychomotor delay, epilepsy, and autistic features. Her face appeared mildly dysmorphi...

  8. Genetics Home Reference: autosomal recessive hypotrichosis

    Science.gov (United States)

    ... Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair ( hypotrichosis ) ... erosions) on the scalp. In areas of poor hair growth, they may also develop bumps called hyperkeratotic follicular ...

  9. Autosomal recessive osteopetrosis in Arab children.

    Science.gov (United States)

    Abdel-Al, Y K; Shabani, I S; Lubani, M M; al-Ghawabi, M A; Ibrahim, M D; al-Mohtaseb, S; Duodin, K I

    1994-01-01

    Nineteen Arab children including six boys and 13 girls in ten sibships were diagnosed as having osteopetrosis over a 5-year period in various hospitals in Kuwait. Eighteen patients had an isolated autosomal recessive form and one had autosomal recessive osteopetrosis associated with renal tubular acidosis. The mean age of diagnosis was 24 months. Parental consanguinity was high amongst them (68%). Anaemia, hepatosplenomegaly, failure to thrive, recurrent infections and neurological manifestations were common. Associated congenital abnormalities were found in 26%. Deafness, hydrocephalus and dental caries were relatively less common. A high mortality (37%) owing to infection was noted. The medical management and recommendations for patient care are discussed briefly. PMID:7516136

  10. 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 ...

  11. 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...

  12. 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

  13. Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia

    DEFF Research Database (Denmark)

    Hellström Pigg, Maritta; Bygum, Anette; Gånemo, Agneta; Virtanen, Marie; Brandrup, Flemming; Zimmer, Andreas D; Hotz, Alrun; Vahlquist, Anders; Fischer, Judith

    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...

  14. 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.

  15. 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.

  16. 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 , ...

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

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    Prithi Shenoy

    2014-01-01

    Full Text Available 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-up for monitoring the progression of the disease. In conclusion, patients with CS should be screened for renal cystic lesions and vice versa even if they are asymptomatic. Also, as the disease is inherited in an autosomal recessive manner, it is important to screen family members for early diagnosis and management.

  18. Caroli's syndrome with autosomal recessive polycystic kidney disease.

    Science.gov (United States)

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

    2014-07-01

    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-up for monitoring the progression of the disease. In conclusion, patients with CS should be screened for renal cystic lesions and vice versa even if they are asymptomatic. Also, as the disease is inherited in an autosomal recessive manner, it is important to screen family members for early diagnosis and management. PMID:24969198

  19. 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...

  20. 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

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

    OpenAIRE

    Phadke Shubha; Girisha K; Phadke Rajendra

    2007-01-01

    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 reces...

  2. STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.

    Science.gov (United States)

    Kakar, Naseebullah; Ahmad, Jamil; Morris-Rosendahl, Deborah J; Altmüller, Janine; Friedrich, Katrin; Barbi, Gotthold; Nürnberg, Peter; Kubisch, Christian; Dobyns, William B; Borck, Guntram

    2015-01-01

    Holoprosencephaly is a clinically and genetically heterogeneous midline brain malformation associated with neurologic manifestations including developmental delay, intellectual disability and seizures. Although mutations in the sonic hedgehog gene SHH and more than 10 other genes are known to cause holoprosencephaly, many patients remain without a molecular diagnosis. Here we show that a homozygous truncating mutation of STIL not only causes severe autosomal recessive microcephaly, but also lobar holoprosencephaly in an extended consanguineous Pakistani family. STIL mutations have previously been linked to centrosomal defects in primary microcephaly at the MCPH7 locus. Our results thus expand the clinical phenotypes associated with biallellic STIL mutations to include holoprosencephaly. PMID:25218063

  3. 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.

  4. 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.

  5. 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.

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

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    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.

  7. Genetic linkage studies in autosomal recessive retinitis pigmentosa

    Energy Technology Data Exchange (ETDEWEB)

    Mansfield, D.C.; Teague, P.W.; Barber, A. [Western General Hospital, Edinburgh (United Kingdom)] [and others

    1994-09-01

    Autosomal recessive retinitis pigmentosa (arRP) is a severe retinal dystrophy characterized by night blindness, progressive constriction of the visual fields and loss of central vision in the fourth or fifth decades. The frequency of this form of retinitis pigmentosa (RP) varies in different populations. Mutations within the rhodopsin, cyclic GMP phosphodiesterase-{beta} subunit and cGMP-gated channel genes have been reported in some arRP families. The genetic loci responsible for the majority of cases have yet to be identified. Genetic heterogeneity is likely to be extensive. In order to minimize the amount of genetic heterogenity, a set of arRP families was ascertained within the South-Central Sardinian population, in which 81% of families with a known mode of inheritance show an autosomal recessive form of RP. The Sardinian population is an ethnic {open_quotes}outlier{close_quotes}, having remained relatively isolated from mainland and other cultures. Genetic linkage data has been obtained in a set of 11 Sardinian arRP kindreds containing 26 affected members. Under the assumption of genetic homogeneity, no evidence of linkage was found in the arRP kindreds using 195 markers, which excluded 62% of the genome (Z<-2). Positive lod scores were obtained with D14S80 which showed no recombination in a subset of 5 families. Heterogeneity testing using D14S80 and arRP showed no significant evidence of heterogeneity (p=0.18) but evidence of linkage ({chi}{sup 2}=3.64, p=0.028). We are currently screening the neural retina-specific leucine zipper gene (NRL) in 14q11 for mutations as a candidate locus.

  8. 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.

  9. MR cholangiography in children with autosomal recessive polycystic kidney disease

    International Nuclear Information System (INIS)

    Background. Magnetic resonance cholangiography (MRC) is a relatively new, non-invasive imaging technique of the biliary tree that has shown good correlation with endoscopic retrograde cholangiopancreatography. The liver manifestation of autosomal recessive polycystic kidney disease (ARPKD) is congenital hepatic fibrosis (CHF). CHF may be accompanied by Caroli's disease, which is characterised by a non-obstructive dilation of the intrahepatic bile ducts. Objective. A prospective study was conducted to determine the presence and extent of Caroli's disease in children with ARPKD. Materials and methods. Seven children with ARPKD aged from 3.0 to 10.1 years were examined. CHF was confirmed in all biopsied cases (5 of 7). All children had been followed by repeated abdominal US examinations for many years. The MR examination included a morphological imaging study using a T2-weighted turbo spin-echo sequence and a heavily T2-weighted inversion-recovery turbo spin-echo sequence with three-dimensional maximum intensity projection (MIP) reconstructions for MRC. Results. The diagnosis of Caroli's disease could be made in one case by US; in two other children Caroli's disease was suspected, but the differentiation from hepatic cysts was not possible. By MRC, Caroli's disease could be diagnosed in three of seven children. Furthermore, MRC with MIP reconstructions demonstrated the extent of the disease by showing the entire biliary tree from different angles. Conclusions. MRC is a valuable method to establish the diagnosis and demonstrate the extent of Caroli's disease. (orig.)

  10. 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

  11. Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy.

    Science.gov (United States)

    Mashiah, J; Harel, A; Bitterman, O; Sagi, L; Gat, A; Fellig, Y; Ben-Shachar, S; Sprecher, E

    2016-06-01

    Consanguinity is known to be associated with an increase in the prevalence of autosomal recessive disorders such as autosomal recessive congenital ichthyosis (ARCI). ARCI often responds well to retinoid treatment. We describe a patient with ARCI who improved under isotretinoin treatment. The patient subsequently developed elevated levels of serum creatinine phosphokinase (CPK), which led to the diagnosis of a second autosomal recessive disorder, dysferlinopathy, a rare myopathy characterized by muscle weakness, decreased tendon reflexes and marked elevation of CPK levels. This report demonstrates the need for physicians to remain alert to the possible coexistence of rare and mutually relevant disorders in populations with a high rate of consanguinity. PMID:26620441

  12. MR cholangiography in children with autosomal recessive polycystic kidney disease

    Energy Technology Data Exchange (ETDEWEB)

    Jung, G. [Department of Radiology, University of Cologne, Cologne (Germany)]|[Institut fuer Diagnostische Radiologie, Heinrich Heine Univ., Duesseldorf (Germany); Benz-Bohm, G.; Kugel, H. [Department of Radiology, University of Cologne, Cologne (Germany); Keller, K.M. [Department of Pediatrics, University of Bonn, Bonn (Germany); Querfeld, U. [Department of Pediatrics, University of Cologne, Cologne (Germany)

    1999-06-01

    Background. Magnetic resonance cholangiography (MRC) is a relatively new, non-invasive imaging technique of the biliary tree that has shown good correlation with endoscopic retrograde cholangiopancreatography. The liver manifestation of autosomal recessive polycystic kidney disease (ARPKD) is congenital hepatic fibrosis (CHF). CHF may be accompanied by Caroli`s disease, which is characterised by a non-obstructive dilation of the intrahepatic bile ducts. Objective. A prospective study was conducted to determine the presence and extent of Caroli`s disease in children with ARPKD. Materials and methods. Seven children with ARPKD aged from 3.0 to 10.1 years were examined. CHF was confirmed in all biopsied cases (5 of 7). All children had been followed by repeated abdominal US examinations for many years. The MR examination included a morphological imaging study using a T2-weighted turbo spin-echo sequence and a heavily T2-weighted inversion-recovery turbo spin-echo sequence with three-dimensional maximum intensity projection (MIP) reconstructions for MRC. Results. The diagnosis of Caroli`s disease could be made in one case by US; in two other children Caroli`s disease was suspected, but the differentiation from hepatic cysts was not possible. By MRC, Caroli`s disease could be diagnosed in three of seven children. Furthermore, MRC with MIP reconstructions demonstrated the extent of the disease by showing the entire biliary tree from different angles. Conclusions. MRC is a valuable method to establish the diagnosis and demonstrate the extent of Caroli`s disease. (orig.) With 1 fig., 1 tab., 18 refs.

  13. Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

    DEFF Research Database (Denmark)

    Østergaard, Elsebet; Batbayli, M; Dunø, Morten; Vilhelmsen, K; Rosenberg, T

    2010-01-01

    Cone-rod dystrophy is a retinal dystrophy with early loss of cone photoreceptors and a parallel or subsequent loss of rod photoreceptors. It may be syndromic, but most forms are non-syndromic with autosomal dominant, autosomal recessive or X-linked recessive inheritance.......Cone-rod dystrophy is a retinal dystrophy with early loss of cone photoreceptors and a parallel or subsequent loss of rod photoreceptors. It may be syndromic, but most forms are non-syndromic with autosomal dominant, autosomal recessive or X-linked recessive inheritance....

  14. 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

  15. 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

  16. 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.

  17. 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

  18. 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...

  19. Caroli's Syndrome with Autosomal Recessive Polycystic Kidney Disease in a Two Month Old Infant

    OpenAIRE

    Kim, Jeong Tae; Hur, Yoon Jeong; Park, Jee Min; Kim, Myung Joon; Park, Young Nyun; Lee, Jae Seung

    2006-01-01

    Caroli's syndrome is a rare congenital disorder that involves intrahepatic bile duct ectasia and congenital hepatic fibrosis, frequently seen with concomitant autosomal recessive polycystic kidney disease (ARPKD). Literature on infants with ARPKD is rare. Here, we present a case of a two month old boy who was diagnosed with Caroli's syndrome and ARPKD.

  20. 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

  1. 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

  2. Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat

    International Nuclear Information System (INIS)

    Chronic granulomatous disease (CGD) is a rare inherited condition rendering neutrophils incapable of killing invading pathogens. This condition is due to the failure of a multicomponent microbicidal oxidase that normally yields a low-midpoint-potential b cytochrome (cytochrome b245). Although defects in the X chromosome-linked cytochrome account for the majority of CGD patients, as many as 30% of CGD cases are due to an autosomal recessive disease. Of these, >90% have been shown to be defective in the synthesis of a 47-kDa cytosolic component of the oxidase. The authors demonstrate here in three unrelated cases of autosomal recessive CGD that the identical underlying molecular lesion is a dinucleotide deletion at a GTGT tandem repeat, corresponding to the acceptor site of the first intron - exon junction. Slippage of the DNA duplex at this site may contribute to the high frequency of defects in this gene

  3. 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.

  4. Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance.

    Science.gov (United States)

    Frasson, Maria; Calixto, Nassim; Cronemberger, Sebastião; de Aguiar, Regina Amélia Lopes Pessoa; Leão, Letícia Lima; de Aguiar, Marcos José Burle

    2004-09-01

    Oculodentodigital dysplasia (ODDD) is a rare inherited disorder affecting the development of the face, eyes, teeth, and limbs. The majority of cases of ODDD are inherited as an autosomal dominant condition. There are few reports of probable autosomal recessive transmission. Affected patients exhibit a distinctive physiognomy with a narrow nose, hypoplastic alae nasi, and anteverted nostrils, bilateral microphthalmos, and microcornea. Sometimes iris anomalies and secondary glaucoma are present. There are malformations of the distal extremities such as syndactyly. In addition, there are defects in the dental enamel with hypoplasia and yellow discoloration of the teeth. Less common features include hypotrichosis, intracranial calcifications, and conductive deafness secondary to recurrent otitis media. We describe three brothers with ODDD. Their parents are first cousins and present no features of ODDD. These data are in favor of autosomal recessive inheritance and suggest genetic heterogeneity for this entity. PMID:15512999

  5. 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...

  6. 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...

  7. TRPV4 Dysfunction Promotes Renal Cystogenesis in Autosomal Recessive Polycystic Kidney Disease

    OpenAIRE

    Zaika, Oleg; Mamenko, Mykola; Berrout, Jonathan; Boukelmoune, Nabila; O'Neil, Roger G.; Pochynyuk, Oleh

    2013-01-01

    The molecular mechanism of cyst formation and expansion in autosomal recessive polycystic kidney disease (ARPKD) is poorly understood, but impaired mechanosensitivity to tubular flow and dysfunctional calcium signaling are important contributors. The activity of the mechanosensitive Ca2+-permeable TRPV4 channel underlies flow-dependent Ca2+ signaling in murine collecting duct (CD) cells, suggesting that this channel may contribute to cystogenesis in ARPKD. Here, we developed a method to isola...

  8. Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

    OpenAIRE

    Stehlíková, Kristýna; Skálová, Daniela; Zídková, Jana; Mrázová, Lenka; Vondráček, Petr; Mazanec, Radim; Voháňka, Stanislav; Haberlová, Jana; Hermanová, Markéta; Zámečník, Josef; Souček, Ondřej; Ošlejšková, Hana; Dvořáčková, Nina; Solařová, Pavla; Fajkusová, Lenka

    2014-01-01

    Background Autosomal recessive limb-girdle muscular dystrophies (LGMD2) include a number of disorders with heterogeneous etiology that cause predominantly weakness and wasting of the shoulder and pelvic girdle muscles. In this study, we determined the frequency of LGMD subtypes within a cohort of Czech LGMD2 patients using mutational analysis of the CAPN3, FKRP, SGCA, and ANO5 genes. Methods PCR-sequencing analysis; sequence capture and targeted resequencing. Results Mutations of the CAPN3 ge...

  9. The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

    OpenAIRE

    Peluso Ivana; Conte Ivan; Testa Francesco; Dharmalingam Gopuraja; Pizzo Mariateresa; Collin Rob WJ; Meola Nicola; Barbato Sara; Mutarelli Margherita; Ziviello Carmela; Barbarulo Anna Maria; Nigro Vincenzo; Melone Mariarosa AB; Simonelli Francesca; Banfi Sandro

    2013-01-01

    Abstract Background Inherited retinal dystrophies, including Retinitis Pigmentosa and Leber Congenital Amaurosis among others, are a group of genetically heterogeneous disorders that lead to variable degrees of visual deficits. They can be caused by mutations in over 100 genes and there is evidence for the presence of as yet unidentified genes in a significant proportion of patients. We aimed at identifying a novel gene for an autosomal recessive form of early onset severe retinal dystrophy i...

  10. A rare case of respiratory disorders associated with two autosomal recessive diseases and male infertility

    OpenAIRE

    Mendeluk, Gabriela Ruth; Costa, Sergio López; Scigliano, Sergio; Menga, Guillermo; Demiceu, Sergio; Palaoro, Luis Alberto

    2013-01-01

    The study of nasal ciliary beat frequency (CBF) and ultrastructure may contribute to the understanding of pathognomonic cases of male infertility associated with defects in sperm motility. This study was designed to report a particular case of male infertility, characterized by the association of two respiratory autosomal recessive genetic diseases (alpha-1-antitrypsin deficiency [AAT-D] and primary ciliary dyskinesia [PCD]). A 39-year-old patient with complete sperm immotility, AAT-D, and br...

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

    Directory of Open Access Journals (Sweden)

    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.

  12. 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

  13. Orofacial Manifestations of Autosomal Recessive Robinow’s Syndrome: A Rare Case Report

    Science.gov (United States)

    Mali, Santosh; Dhokar, Amol; Yadav, Monica

    2016-01-01

    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.

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

    DEFF Research Database (Denmark)

    Grønskov, Karen; Ek, Jakob; Sand, Annie; Scheller, Rudolf; Bygum, Anette; Brixen, Kim; Brøndum-Nielsen, Karen; Rosenberg, Thomas

    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 with...

  15. Mutations in C10orf11, a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism

    OpenAIRE

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

    2013-01-01

    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...

  16. 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

  17. 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

  18. 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.

  19. 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...... 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...

  20. 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

  1. 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

  2. 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.

  3. 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

  4. 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

  5. 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; Jensen, H; Christoffersen, N; Wu, B; Zhang, J; Xu, R; Harris, P; Xu, X; Grønskov, K; Tümer, Z

    2013-01-01

    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...

  6. Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

    OpenAIRE

    Abou Jamra, Rami; Philippe, Orianne; Raas-Rothschild, Annick; Eck, Sebastian H.; Graf, Elisabeth; Buchert, Rebecca; Borck, Guntram; Ekici, Arif; Brockschmidt, Felix F.; Nöthen, Markus M.; Munnich, Arnold; Strom, Tim M.; Reis, Andre; Colleaux, Laurence

    2011-01-01

    Intellectual disability inherited in an autosomal-recessive fashion represents an important fraction of severe cognitive-dysfunction disorders. Yet, the extreme heterogeneity of these conditions markedly hampers gene identification. Here, we report on eight affected individuals who were from three consanguineous families and presented with severe intellectual disability, absent speech, shy character, stereotypic laughter, muscular hypotonia that progressed to spastic paraplegia, microcephaly,...

  7. 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; Mang, Yuan; ur Rehman, Shoaib; Buchert, Rebecca; Schaffer, Stefanie; Muhammad, Safia; Bak, Mads; Nöthen, Markus M; Bennett, Eric P; Maeda, Yusuke; Aigner, Michael; Reis, André; Kinoshita, Taroh; Tommerup, Niels; Baig, Shahid Mahmood; Abou Jamra, Rami

    2013-01-01

    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...

  8. 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

  9. 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

  10. 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

  11. Libyan Boy with Autosomal Recessive Trait (P22-phox Defect of Chronic Granulomatous Disease

    Directory of Open Access Journals (Sweden)

    Ilka Schulze

    2006-09-01

    Full Text Available Chronic granulomatous disease (CGD is a primary immune deficiency disorder of the phagocytes. In this disorder, phagocytic cells (polymorphonuclear leukocytes and monocytes cannot produce active oxygen metabolites, and therefore, cannot destroy the ingested intracellular bacteria. Clinically, patients with CGD usually have recurrent bacterial and fungal infections causing abscess and granuloma formation in the skin, lymph nodes and visceral organs.In this report, we present a boy from Libya with a rare autosomal recessive trait of CGD (defect of p22-phox who has chronic lung disease following multiple severe pneumonia attacks. The case we present suffered from bloody diarrhea since the third month of his life. He also had recurrent episodes of fever, and later, developed persistent cervical lymphadenitis and failure to gain weight. CGD is a very rare condition worldwide. It is also not recognized here in Libya, and usually not in the list of differential diagnosis for chronic pulmonary infections. We advise that pediatricians and general practitioners who treat chronic cases of lung diseases (with or without chronic diarrhea should consider primary immunodeficiency disorders in the hope that early diagnosis and treatment may prevent chronic complications especially of the respiratory tract. Furthermore, we state that, to the best of our knowledge, this is the first documented case of CGD from Libya.

  12. 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.

  13. 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

  14. 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)

  15. TRPV4 Dysfunction Promotes Renal Cystogenesis in Autosomal Recessive Polycystic Kidney Disease

    Science.gov (United States)

    Zaika, Oleg; Mamenko, Mykola; Berrout, Jonathan; Boukelmoune, Nabila; O'Neil, Roger G.

    2013-01-01

    The molecular mechanism of cyst formation and expansion in autosomal recessive polycystic kidney disease (ARPKD) is poorly understood, but impaired mechanosensitivity to tubular flow and dysfunctional calcium signaling are important contributors. The activity of the mechanosensitive Ca2+-permeable TRPV4 channel underlies flow-dependent Ca2+ signaling in murine collecting duct (CD) cells, suggesting that this channel may contribute to cystogenesis in ARPKD. Here, we developed a method to isolate CD-derived cysts and studied TRPV4 function in these cysts laid open as monolayers and in nondilated split-open CDs in a rat model of ARPKD. In freshly isolated CD-derived cyst monolayers, we observed markedly impaired TRPV4 activity, abnormal subcellular localization of the channel, disrupted TRPV4 glycosylation, decreased basal [Ca2+]i, and loss of flow-mediated [Ca2+]i signaling. In contrast, nondilated CDs of these rats exhibited functional TRPV4 with largely preserved mechanosensitive properties. Long-term systemic augmentation of TRPV4 activity with a selective TRPV4 activator significantly attenuated the renal manifestations of ARPKD in a time-dependent manner. At the cellular level, selective activation of TRPV4 restored mechanosensitive Ca2+ signaling as well as the function and subcellular distribution of TRPV4. In conclusion, the functional status of TRPV4, which underlies mechanosensitive Ca2+ signaling in CD cells, inversely correlates with renal cystogenesis in ARPKD. Augmenting TRPV4 activity may have therapeutic potential in ARPKD. PMID:23411787

  16. Successful twin pregnancy in a patient with parkin-associated autosomal recessive juvenile parkinsonism

    Directory of Open Access Journals (Sweden)

    Takakuwa Koichi

    2011-06-01

    Full Text Available Abstract Background Pregnancy in patients with Parkinson disease is a rare occurrence. To the best of our knowledge, the effect of pregnancy as well as treatment in genetically confirmed autosomal recessive juvenile parkinsonism (ARJP has never been reported. Here, we report the first case of pregnancy in a patient with ARJP associated with a parkin gene mutation, ARJP/PARK2. Case presentation A 27-year-old woman with ARJP/PARK2 was diagnosed as having a spontaneous dichorionic/diamniotic twin pregnancy. Exacerbation of motor disability was noted between ovulation and menstruation before pregnancy as well as during late pregnancy, suggesting that her parkinsonism might have been influenced by fluctuations in the levels of endogenous sex hormones. During the organogenesis period, she was only treated with levodopa/carbidopa, although she continued to receive inpatient hospital care for assistance in the activities of daily living. After the organogenesis period, she was administered sufficient amounts of antiparkinsonian drugs. She delivered healthy male twins, and psychomotor development of both the babies was normal at the age of 2 years. Conclusion Pregnancy may worsen the symptoms of ARJP/PARK2, although appropriate treatments with antiparkinsonian drugs and adequate assistance in the activities of daily living might enable successful pregnancy and birth of healthy children.

  17. Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?

    Science.gov (United States)

    Straub, Volker; Bertoli, Marta

    2016-02-01

    Autosomal recessive limb girdle muscular dystrophies (LGMD2) are a group of genetically heterogeneous diseases that are typically characterised by progressive weakness and wasting of the shoulder and pelvic girdle muscles. Many of the more than 20 different conditions show overlapping clinical features with other forms of muscular dystrophy, congenital, myofibrillar or even distal myopathies and also with acquired muscle diseases. Although individually extremely rare, all types of LGMD2 together form an important differential diagnostic group among neuromuscular diseases. Despite improved diagnostics and pathomechanistic insight, a curative therapy is currently lacking for any of these diseases. Medical care consists of the symptomatic treatment of complications, aiming to improve life expectancy and quality of life. Besides well characterised pre-clinical tools like animal models and cell culture assays, the determinants of successful drug development programmes for rare diseases include a good understanding of the phenotype and natural history of the disease, the existence of clinically relevant outcome measures, guidance on care standards, up to date patient registries, and, ideally, biomarkers that can help assess disease severity or drug response. Strong patient organisations driving research and successful partnerships between academia, advocacy, industry and regulatory authorities can also help accelerate the elaboration of clinical trials. All these determinants constitute aspects of translational research efforts and influence patient access to therapies. Here we review the current status of determinants of successful drug development programmes for LGMD2, and the challenges of translating promising therapeutic strategies into effective and accessible treatments for patients. PMID:26810373

  18. The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

    Directory of Open Access Journals (Sweden)

    Peluso Ivana

    2013-01-01

    Full Text Available Abstract Background Inherited retinal dystrophies, including Retinitis Pigmentosa and Leber Congenital Amaurosis among others, are a group of genetically heterogeneous disorders that lead to variable degrees of visual deficits. They can be caused by mutations in over 100 genes and there is evidence for the presence of as yet unidentified genes in a significant proportion of patients. We aimed at identifying a novel gene for an autosomal recessive form of early onset severe retinal dystrophy in a patient carrying no previously described mutations in known genes. Methods An integrated strategy including homozygosity mapping and whole exome sequencing was used to identify the responsible mutation. Functional tests were performed in the medaka fish (Oryzias latipes model organism to gain further insight into the pathogenic role of the ADAMTS18 gene in eye and central nervous system (CNS dysfunction. Results This study identified, in the analyzed patient, a homozygous missense mutation in the ADAMTS18 gene, which was recently linked to Knobloch syndrome, a rare developmental disorder that affects the eye and the occipital skull. In vivo gene knockdown performed in medaka fish confirmed both that the mutation has a pathogenic role and that the inactivation of this gene has a deleterious effect on photoreceptor cell function. Conclusion This study reveals that mutations in the ADAMTS18 gene can cause a broad phenotypic spectrum of eye disorders and contribute to shed further light on the complexity of retinal diseases.

  19. 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

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

    International Nuclear Information System (INIS)

    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 SCFhSel-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.

  1. 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.

  2. 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...

  3. 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...

  4. 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...

  5. Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

    OpenAIRE

    Konstantinos Nikopoulos; Almudena Avila-Fernandez; Marta Corton; Maria Isabel Lopez-Molina; Raquel Perez-Carro; Lara Bontadelli; Silvio Alessandro Di Gioia; Olga Zurita; Blanca Garcia-Sandoval; Carlo Rivolta; Carmen Ayuso

    2015-01-01

    Inherited retinal dystrophies present extensive phenotypic and genetic heterogeneity, posing a challenge for patients’ molecular and clinical diagnoses. In this study, we wanted to clinically characterize and investigate the molecular etiology of an atypical form of autosomal recessive retinal dystrophy in two consanguineous Spanish families. Affected members of the respective families exhibited an array of clinical features including reduced visual acuity, photophobia, defective color vision...

  6. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS: typical clinical and neuroimaging features in a Brazilian family

    Directory of Open Access Journals (Sweden)

    J L Pedroso

    2011-01-01

    Full Text Available Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS is a neurodegenerative disorder characterized by late-infantile onset spastic ataxia and other neurological features. ARSACS has a high prevalence in northeastern Quebec, Canada. Several ARSACS cases have been reported outside Canada in recent decades. This is the first report of typical clinical and neuroimaging features in a Brazilian family with probable diagnosis of ARSACS.

  7. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family

    OpenAIRE

    Pedroso, J.L.; P Braga-Neto; A Abrahão; R L M Rivero; C Abdalla; N. Abdala; O G P Barsottini

    2011-01-01

    Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by late-infantile onset spastic ataxia and other neurological features. ARSACS has a high prevalence in northeastern Quebec, Canada. Several ARSACS cases have been reported outside Canada in recent decades. This is the first report of typical clinical and neuroimaging features in a Brazilian family with probable diagnosis of ARSACS.

  8. Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia

    OpenAIRE

    Adaimy, Lynn ; Chouery, Eliane ; Mégarbané, Hala ; Mroueh, Salman ; Delague, Valérie ; Nicolas, Elsa ; Belguith, Hanen ; de Mazancourt, Philippe ; Mégarbané, André 

    2007-01-01

    Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. We studied three consanguineous Lebanese Muslim Shiite families that included six individuals affected with odonto-onycho-dermal dysplasia. Using a homozygosity-mapping strategy, we assigned...

  9. 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...

  10. CONSENSUS EXPERT RECOMMENDATIONS FOR THE DIAGNOSIS AND MANAGEMENT OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE: REPORT OF AN INTERNATIONAL CONFERENCE

    OpenAIRE

    Guay-Woodford, Lisa M.; Bissler, John J.; Braun, Michael C.; Bockenhauer, Detlef; Cadnapaphornchai, Melissa A.; Dell, Katherine M.; Kerecuk, Larissa; Liebau, Max C; Alonso-Peclet, Maria H.; Shneider, Benjamin; Emre, Sukru; Heller, Theo; Kamath, Binita M.; Murray, Karen F.; Moise, Kenneth

    2014-01-01

    Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is a severe, typically early onset form of cystic disease that primarily involves the kidneys and biliary tract. Phenotypic expression and age at presentation can be quite variable1. The incidence of ARPKD is 1 in 20,000 live births2, and its pleotropic manifestations are potentially life-threatening. Optimal care requires proper surveillance to limit morbidity and mortality, knowledgeable approaches to diagnosis and treatment,...

  11. 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

  12. 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

  13. 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.

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

    Science.gov (United States)

    Schaffner, Adam; Fedick, Anastasia; Kaye, Lauren E.; Liao, Jun; Yachelevich, Naomi; Chu, Mary-Lynn; Boles, Richard G.; Moran, Ellen; Tokita, Mari; Gorman, Elizabeth; Zhang, Wei; Xia, Fan; Leduc, Magalie; Yang, Yaping; Eng, Christine; Wong, Lee-Jun; Schiffmann, Raphael; Diaz, George A.; Kornreich, Ruth; Thummel, Ryan; Wasserstein, Melissa; Yue, Zhenyu; Edelmann, Lisa

    2016-01-01

    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. PMID:27120463

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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...

  20. Inhibitory action of chlorophyllin of autosome recessive lethals induced by irradiation

    International Nuclear Information System (INIS)

    on the damage caused by the radiation, it was into account the 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)

  1. A novel HSF4 gene mutation (p.R405X causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

    Directory of Open Access Journals (Sweden)

    Cheema Abdul

    2008-11-01

    Full Text Available Abstract Background Hereditary cataracts are most frequently inherited as autosomal dominant traits, but can also be inherited in an autosomal recessive or X-linked fashion. To date, 12 loci for autosomal recessive cataracts have been mapped including a locus on chromosome 16q22 containing the disease-causing gene HSF4 (Genbank accession number NM_001040667. Here, we describe a family from Pakistan with the first nonsense mutation in HSF4 thus expanding the mutational spectrum of this heat shock transcription factor gene. Methods A large consanguineous Pakistani family with autosomal recessive cataracts was collected from Quetta. Genetic linkage analysis was performed for the common known autosomal recessive cataracts loci and linkage to a locus containing HSF4 (OMIM 602438 was found. All exons and adjacent splice sites of the heat shock transcription factor 4 gene (HSF4 were sequenced. A mutation-specific restriction enzyme digest (HphI was performed for all family members and unrelated controls. Results The disease phenotype perfectly co-segregated with markers flanking the known cataract gene HSF4, whereas other autosomal recessive loci were excluded. A maximum two-point LOD score with a Zmax = 5.6 at θ = 0 was obtained for D16S421. Direct sequencing of HSF4 revealed the nucleotide exchange c.1213C > T in this family predicting an arginine to stop codon exchange (p.R405X. Conclusion We identified the first nonsense mutation (p.R405X in exon 11 of HSF4 in a large consanguineous Pakistani family with autosomal recessive cataract.

  2. 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.

  3. The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities.

    Science.gov (United States)

    Hunter, A G; Woerner, S J; Montalvo-Hicks, L D; Fowlow, S B; Haslam, R H; Metcalf, P J; Lowry, R B

    1979-01-01

    This paper describes six Hutterite children from five families who appear to have been affected by the same syndrome that was described in two brothers by Bowen and Conradi [1]. Our additional cases confirm that the major features of the syndrome include porportionate intrauterine growth retardation, microcephaly, micrognathia, a prominent nose, rocker-bottom feet, joint limitation, and failure to thrive, with death within the first year of life. Bowen-Conradi syndrome is an autosomal recessive trait and pedigree records show that all six families now known are related to each other through two couples born in the late 1700s but that there are additional earlier possible sources of the responsible gene. The differential diagnosis of this syndrome is discussed. PMID:484596

  4. 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

  5. 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

    information on consanguinity is lacking, this suggestion is difficult to test. With an indirect approach, we addressed this question by comparing the risk of diseases with autosomal recessive inheritance in children born in Denmark of Danish-born women and of women born in these five countries, respectively...

  6. 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...

  7. 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

  8. 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

  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

    PURPOSE: Aphakia is the complete absence of any lens in the eye, either due to surgical removal of the lens as a result of a perforating wound or ulcer, or due to a congenital anomaly. The purpose of this study was to elucidate the molecular genetics for a large consanguineous Pakistani family wi...... quite primitive in origin since the same mutation is responsible for the same phenotypic outcome in two families of geographically different descent.......PURPOSE: Aphakia is the complete absence of any lens in the eye, either due to surgical removal of the lens as a result of a perforating wound or ulcer, or due to a congenital anomaly. The purpose of this study was to elucidate the molecular genetics for a large consanguineous Pakistani family 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...

  10. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.

    Science.gov (United States)

    Adaimy, Lynn; Chouery, Eliane; Megarbane, Hala; Mroueh, Salman; Delague, Valerie; Nicolas, Elsa; Belguith, Hanen; de Mazancourt, Philippe; Megarbane, Andre

    2007-10-01

    Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. We studied three consanguineous Lebanese Muslim Shiite families that included six individuals affected with odonto-onycho-dermal dysplasia. Using a homozygosity-mapping strategy, we assigned the disease locus to an ~9-cM region at chromosome 2q35-q36.2, located between markers rs16853834 and D2S353, with a maximum multipoint LOD score of 5.7. Screening of candidate genes in this region led us to identify the same c.697G-->T (p.Glu233X) homozygous nonsense mutation in exon 3 of the WNT10A gene in all patients. At the protein level, the mutation is predicted to result in a premature truncated protein of 232 aa instead of 417 aa. This is the first report to our knowledge of a human phenotype resulting from a mutation in WNT10A, and it is the first demonstration of an ectodermal dysplasia caused by an altered WNT signaling pathway, expanding the list of WNT-related diseases. PMID:17847007

  11. 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...

  12. 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...

  13. 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

  14. An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders.

    Science.gov (United States)

    Skirton, Heather; Goldsmith, Lesley; Chitty, Lyn S

    2015-08-01

    Prenatal testing based on cell-free fetal DNA in maternal serum is now possible for specific monogenic conditions, and studies have shown that the use of non-invasive testing is supported by prospective parents and health professionals. However, some ethical issues have been raised concerning informed consent and paternal rights. The objective of this study was to explore ethical aspects of the use of non-invasive prenatal diagnostic testing for autosomal recessive disorders. We used a qualitative cross-sectional design, based on Thematic Analysis, and recruited 27 individuals of reproductive age who were carriers of one of four conditions: thalassaemia, sickle cell disease, cystic fibrosis or spinal muscular atrophy. Data were collected via focus groups or interviews. Participants were aware of the potential for such tests to be viewed as routine and suggested that obtaining written consent and allowing time for consideration is needed to facilitate autonomous choice and informed consent. All participants felt that mothers should be able to request such tests, but fathers who declined carrier testing should be made aware that fetal test results may reveal their status. We suggest that a written record of consent for non-invasive prenatal diagnosis should be used as a standard to help reinforce the serious nature of the test results. Where the father's carrier status could be revealed through fetal testing, he should be made aware of this before the results are available. Health professionals should discuss with the pregnant woman the best way to manage unsought information about the father's carrier status to minimise family disruption. PMID:25351779

  15. Telmisartan Ameliorates Fibrocystic Liver Disease in an Orthologous Rat Model of Human Autosomal Recessive Polycystic Kidney Disease

    Science.gov (United States)

    Yoshihara, Daisuke; Kugita, Masanori; Sasaki, Mai; Horie, Shigeo; Nakanishi, Koichi; Abe, Takaaki; Aukema, Harold M.; Yamaguchi, Tamio; Nagao, Shizuko

    2013-01-01

    Human autosomal recessive polycystic kidney disease (ARPKD) produces kidneys which are massively enlarged due to multiple cysts, hypertension, and congenital hepatic fibrosis characterized by dilated bile ducts and portal hypertension. The PCK rat is an orthologous model of human ARPKD with numerous fluid-filled cysts caused by stimulated cellular proliferation in the renal tubules and hepatic bile duct epithelia, with interstitial fibrosis developed in the liver. We previously reported that a peroxisome proliferator activated receptor (PPAR)-γ full agonist ameliorated kidney and liver disease in PCK rats. Telmisartan is an angiotensin receptor blocker (ARB) used widely as an antihypertensive drug and shows partial PPAR-γ agonist activity. It also has nephroprotective activity in diabetes and renal injury and prevents the effects of drug-induced hepatotoxicity and hepatic fibrosis. In the present study, we determined whether telmisartan ameliorates progression of polycystic kidney and fibrocystic liver disease in PCK rats. Five male and 5 female PCK and normal control (+/+) rats were orally administered 3 mg/kg telmisartan or vehicle every day from 4 to 20 weeks of age. Treatment with telmisartan decreased blood pressure in both PCK and +/+ rats. Blood levels of aspartate amino transferase, alanine amino transferase and urea nitrogen were unaffected by telmisartan treatment. There was no effect on kidney disease progression, but liver weight relative to body weight, liver cystic area, hepatic fibrosis index, expression levels of Ki67 and TGF-β, and the number of Ki67- and TGF-β-positive interstitial cells in the liver were significantly decreased in telmisartan-treated PCK rats. Therefore, telmisartan ameliorates congenital hepatic fibrosis in ARPKD, possibly through the inhibition of signaling cascades responsible for cellular proliferation and interstitial fibrosis in PCK rats. The present results support the potential therapeutic use of ARBs for the

  16. Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss

    Directory of Open Access Journals (Sweden)

    MA Tabatabaiefar

    2011-06-01

    Full Text Available "nBackground: Hearing loss (HL is the most frequent sensory birth defect in humans. Autosomal recessive non-syn­dromic HL (ARNSHL is the most common type of hereditary HL. It is extremely heterogeneous and over 70 loci (known as DFNB have been identified. This study was launched to determine the relative contribution of more frequent loci in a cohort of ARNSHL families."nMethods: Thirty-seven Iranian families including 36 ARNSHL families and 1 family with Pendred syndrome each with ≥ 4 affected individuals, from seven provinces of Iran, were ascertained. DFNB1 contribution was initially studied by DNA sequencing of GJB2 and linkage analysis using the relative STR markers. The excluded families were then sub­jected to homozygosity mapping for fifteen ARNSHL loci."nResults: Sixteen families were found to be linked to seven different known loci, including DFNB1 (6 families, DFNB4 (3 families +1 family with Pendred syndrome, DFNB63 (2 families, DFNB2 (1 family, DFNB7/11 (1 family, DFNB9 (1 family and DFNB21 (1 family. DNA sequencing of the corresponding genes is in progress to identify the pathogenic mu­tations. "nConclusion: The genetic causes were clarified in 43.2% of the studied families, giving an overview of the causes of ARNSHL in Iran. DFNB4 is ranked second after DFNB1 in the studied cohort. More genetic and epigenetic investiga­tions will have to be done to reveal the causes in the remaining families.   

  17. CONSENSUS EXPERT RECOMMENDATIONS FOR THE DIAGNOSIS AND MANAGEMENT OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE: REPORT OF AN INTERNATIONAL CONFERENCE

    Science.gov (United States)

    Guay-Woodford, Lisa M.; Bissler, John J.; Braun, Michael C.; Bockenhauer, Detlef; Cadnapaphornchai, Melissa A.; Dell, Katherine M.; Kerecuk, Larissa; Liebau, Max C.; Alonso-Peclet, Maria H.; Shneider, Benjamin; Emre, Sukru; Heller, Theo; Kamath, Binita M.; Murray, Karen F.; Moise, Kenneth; Eichenwald, Eric E.; Evans, Jacquelyn; Keller, Roberta L.; Wilkins-Haug, Louise; Bergmann, Carsten; Gunay-Aygun, Meral; Hooper, Stephen R.; Hardy, Kristina K.; Hartung, Erum A.; Streisand, Randi; Perrone, Ronald; Moxey-Mims, Marva

    2015-01-01

    Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is a severe, typically early onset form of cystic disease that primarily involves the kidneys and biliary tract. Phenotypic expression and age at presentation can be quite variable1. The incidence of ARPKD is 1 in 20,000 live births2, and its pleotropic manifestations are potentially life-threatening. Optimal care requires proper surveillance to limit morbidity and mortality, knowledgeable approaches to diagnosis and treatment, and informed strategies to optimize quality of life. Clinical management therefore is ideally directed by multidisciplinary care teams consisting of perinatologists, neonatologists, nephrologists, hepatologists, geneticists, and behavioral specialists to coordinate patient care from the perinatal period to adulthood. In May 2013, an international team of 25 multidisciplinary specialists from the US, Canada, Germany, and the United Kingdom convened in Washington, DC, to review the literature published from 1990 to 2013 and to develop recommendations for diagnosis, surveillance, and clinical management. Identification of the gene PKHD1, and the significant advances in perinatal care, imaging, medical management, and behavioral therapies over the past decade, provide the foundational elements to define diagnostic criteria and establish clinical management guidelines as the first steps towards standardizing the clinical care for ARPKD patients. The key issues discussed included recommendations regarding perinatal interventions, diagnostic criteria, genetic testing, management of renal and biliary-associated morbidities, and behavioral assessment. The meeting was funded by the National Institutes of Health and an educational grant from the Polycystic Kidney Disease Foundation. Here we summarize the discussions and provide an updated set of diagnostic, surveillance, and management recommendations for optimizing the pediatric care of patients with ARPKD. Specialist care of ARPKD

  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. 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

  20. 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

  1. 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

  2. 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.

  3. Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox).

    OpenAIRE

    Boer, M.; Klein, A; Hossle, J P; Seger, R.; Corbeel, L; Weening, R S; Roos, D.

    1992-01-01

    Chronic granulomatous disease (CGD) is characterized by the failure of activated phagocytes to generate superoxide. Defects in at least four different genes lead to CGD. Patients with the X-linked form of CGD have mutations in the gene for the beta-subunit of cytochrome b558 (gp91-phox). Patients with a rare autosomal recessive form of CGD have mutations in the gene for the alpha-subunit of this cytochrome (p22-phox). Usually, this leads to the absence of cytochrome b558 in the phagocytes (A2...

  4. Structure of the Parkin in-between-ring domain provides insights for E3-ligase dysfunction in autosomal recessive Parkinson's disease

    OpenAIRE

    Beasley, Steven A; Hristova, Ventzislava A.; Shaw, Gary S.

    2007-01-01

    Mutations in Parkin are one of the predominant hereditary factors found in patients suffering from autosomal recessive juvenile Parkinsonism. Parkin is a member of the E3 ubiquitin ligase family that is defined by a tripartite RING1-in-between-ring (IBR)-RING2 motif. In Parkin, the IBR domain has been shown to augment binding of the E2 proteins UbcH7 and UbcH8, and the subsequent ubiquitination of the proteins synphilin-1, Sept5, and SIM2. To facilitate our understanding of Parkin function, t...

  5. 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; Musarella, M A; Hayden, M R

    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......The finding of a mutation in the beta subunit of the cyclic GMP (cGMP) phosphodiesterase gene causing retinal degeneration in mice (the Pdeb gene) prompted a search for disease-causing mutations in the human phosphodiesterase gene (PDEB gene) in patients with retinitis pigmentosa. All 22 exons...

  6. 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...

  7. 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.

  8. 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.

  9. Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

    Science.gov (United States)

    Tüysüz, Beyhan; Bilguvar, Kaya; Koçer, Naci; Yalçınkaya, Cengiz; Çağlayan, Okay; Gül, Ece; Sahin, Sezgin; Çomu, Sinan; Günel, Murat

    2014-07-01

    Adaptor protein complex-4 (AP4) is a component of intracellular transportation of proteins, which is thought to have a unique role in neurons. Recently, mutations affecting all four subunits of AP4 (AP4M1, AP4E1, AP4S1, and AP4B1) have been found to cause similar autosomal recessive phenotype consisting of tetraplegic cerebral palsy and intellectual disability. The aim of this study was analyzing AP4 genes in three new families with this phenotype, and discussing their clinical findings with an emphasis on neuroimaging and facial features. Using homozygosity mapping followed by whole-exome sequencing, we identified two novel homozygous mutations in AP4M1 and a homozygous deletion in AP4B1 in three pairs of siblings. Spastic tetraplegia, microcephaly, severe intellectual disability, limited speech, and stereotypic laughter were common findings in our patients. All patients also had similar facial features consisting of coarse and hypotonic face, bitemporal narrowing, bulbous nose with broad nasal ridge, and short philtrum which were not described in patients with AP4M1 and AP4B1 mutations previously. The patients presented here and previously with AP4M1, AP4B1, and AP4E1 mutations shared brain abnormalities including asymmetrical ventriculomegaly, thin splenium of the corpus callosum, and reduced white matter volume. The patients also had hippocampal globoid formation and thin hippocampus. In conclusion, disorders due to mutations in AP4 complex have similar neurological, facial, and cranial imaging findings. Thus, these four genes encoding AP4 subunits should be screened in patients with autosomal recessive spastic tetraplegic cerebral palsy, severe intellectual disability, and stereotypic laughter, especially with the described facial and cranial MRI features. PMID:24700674

  10. 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.

  11. 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

  12. 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

  13. 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

  14. 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.

  15. Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.

    Science.gov (United States)

    Krebsová, A; Küster, W; Lestringant, G G; Schulze, B; Hinz, B; Frossard, P M; Reis, A; Hennies, H C

    2001-07-01

    Autosomal recessive congenital ichthyosis (ARCI) comprises a group of severe disorders of keratinization, characterized by variable erythema and skin scaling. It is known for its high degree of genetic and clinical heterogeneity. Mutations in the gene for keratinocyte transglutaminase (TGM1) on chromosome 14q11 were shown in patients with ARCI, and a second locus was described, on chromosome 2q, in families from northern Africa. Three other loci for ARCI, on chromosomes 3p and 19p, were identified recently. We have embarked on a whole-genome scan for further loci for ARCI in four families from Germany, Turkey, and the United Arab Emirates. A novel ARCI locus was identified on chromosome 17p, between the markers at D17S938 and D17S1856, with a maximum LOD score of 3.38, at maximum recombination fraction 0.00, at D17S945, under heterogeneity. This locus is linked to the disease in the Turkish family and in the German family. Extensive genealogical studies revealed that the parents of the German patients with ARCI were eighth cousins. By homozygosity mapping, the localization of the gene could then be refined to the 8.4-cM interval between D17S938 and D17S1879. It could be shown, however, that ARCI in the two Arab families is linked neither to the new locus on chromosome 17p nor to one of the five loci known previously. Our findings give evidence of further genetic heterogeneity that is not linked to distinctive phenotypes. PMID:11398099

  16. The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).

    Science.gov (United States)

    Syx, Delfien; Malfait, Fransiska; Van Laer, Lut; Hellemans, Jan; Hermanns-Lê, Trinh; Willaert, Andy; Benmansour, Abdelmajid; De Paepe, Anne; Verloes, Alain

    2010-07-01

    Defects leading to impaired intracellular trafficking have recently been shown to play an important role in the pathogenesis of genodermatoses, such as the Ehlers-Danlos and the cutis laxa syndromes. A new genodermatosis, termed macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome has been described, resulting from a homozygous 1-bp deletion in RIN2. RIN2 encodes the Ras and Rab interactor 2, involved in the regulation of Rab5-mediated early endocytosis. We performed a clinical, ultrastructural and molecular study in a consanguineous Algerian family with three siblings affected by a distinctive autosomal recessive genodermatosis, reported in 2005 by Verloes et al. The most striking clinical features include progressive facial coarsening, gingival hypertrophy, severe scoliosis, sparse hair and skin and joint hyperlaxity. Ultrastructural studies of the skin revealed important abnormalities in the collagen fibril morphology, and fibroblasts exhibited a dilated endoplasmic reticulum and an abnormal Golgi apparatus with rarefied and dilated cisternae. Molecular analysis of RIN2 revealed a novel homozygous 2-bp deletion in all affected individuals. The c.1914_1915delGC mutation introduces a frameshift and creates a premature termination codon, leading to nonsense-mediated mRNA decay. These findings confirm that RIN2 defects are associated with a distinct genodermatosis and underscore the involvement of RIN2 and its associated pathways in the pathogenesis of connective tissue disorders. The current family displays considerable phenotypic overlap with MACS syndrome. However, our family shows a dermatological and ultrastructural phenotype belonging to the Ehlers-Danlos rather than the cutis laxa spectrum. Therefore, the MACS acronym is not entirely appropriate for the current family. PMID:20424861

  17. 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

  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. Identification and functional characterization of a genetic defect in the kinetochore protein BOD1 associated with autosomal recessive mental retardation and oligomenorrhea

    OpenAIRE

    Esmaeeli-Nieh, Sahar

    2011-01-01

    Im Zuge unserer klinischen und molekularen Studien zur Identifizierung der genetischen Ursachen autosomal-rezessiver geistiger Behinderung, untersuchten wir eine iranische Familie mit vier Patientinnen, welche einen milden bis mittelschweren Grad geistiger Behinderung sowie Oligomenorrhoe aufweisen. Mittels Autozygosity Mapping wurde ein 4,3 Mbp Intervall auf Chromosom 5 identifiziert, welches 28 Gene beinhaltet. Die kodierenden Bereiche dieser Gene wurden sequenziert und als einzige Nukleoti...

  20. Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study

    Directory of Open Access Journals (Sweden)

    Cornel Martina C

    2010-07-01

    Full Text Available Abstract Background The offspring of consanguineous relations have an increased risk of congenital/genetic disorders and early mortality. Consanguineous couples and their offspring account for approximately 10% of the global population. The increased risk for congenital/genetic disorders is most marked for autosomal recessive disorders and depends on the degree of relatedness of the parents. For children of first cousins the increased risk is 2-4%. For individual couples, however, the extra risk can vary from zero to 25% or higher, with only a minority of these couples having an increased risk of at least 25%. It is currently not possible to differentiate between high-and low-risk couples. The quantity of DNA identical-by-descent between couples with the same degree of relatedness shows a remarkable variation. Here we hypothesize that consanguineous partners with children affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related partners who have only healthy children. The aim of the study is thus to establish whether the amount of DNA identical-by-descent in consanguineous parents of children with an autosomal recessive disease is indeed different from its proportion in consanguineous parents who have healthy children only. Methods/Design This project is designed as a case-control study. Cases are defined as consanguineous couples with one or more children with an autosomal recessive disorder and controls as consanguineous couples with at least three healthy children and no affected child. We aim to include 100 case couples and 100 control couples. Control couples are matched by restricting the search to the same family, clan or ethnic origin as the case couple. Genome-wide SNP arrays will be used to test our hypothesis. Discussion This study contains a new approach to risk assessment in consanguineous couples. There is no previous study on the amount of DNA identical-by-descent in consanguineous

  1. 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

    -5445 on the short arm of chromosome 10. This is within the autosomal recessive megaloblastic anemia (MGA1) 6-cM region harboring the unknown recessive-gene locus of juvenile megaloblastic anemia caused by intestinal malabsorption of cobalamin (Imerslund-Gräsbeck's disease). In conclusion, the present...... molecular and genetic information on human cubilin now provides circumstantial evidence that an impaired synthesis, processing, or ligand binding of cubilin is the molecular background of this hereditary form of megaloblastic anemia. Udgivelsesdato: 1998-May-15...

  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. 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)

  5. 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

  6. 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.

  7. 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.

  8. 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.

  9. 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

  10. 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

  11. 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.

  12. Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.

    Directory of Open Access Journals (Sweden)

    Samer Khateb

    Full Text Available We used a combined approach of homozygosity mapping and whole exome sequencing (WES to search for the genetic cause of autosomal recessive retinitis pigmentosa (arRP in families of Yemenite Jewish origin. Homozygosity mapping of two arRP Yemenite Jewish families revealed a few homozygous regions. A subsequent WES analysis of the two index cases revealed a shared homozygous novel nucleotide deletion (c.1220delG leading to a frameshift (p.Gly407Glufs*56 in an alternative exon (#15 of USH1C. Screening of additional Yemenite Jewish patients revealed a total of 16 homozygous RP patients (with a carrier frequency of 0.008 in controls. Funduscopic and electroretinography findings were within the spectrum of typical RP. While other USH1C mutations usually cause Usher type I (including RP, vestibular dysfunction and congenital deafness, audiometric screening of 10 patients who are homozygous for c.1220delG revealed that patients under 40 years of age had normal hearing while older patients showed mild to severe high tone sensorineural hearing loss. This is the first report of a mutation in a known USH1 gene that causes late onset rather than congenital sensorineural hearing loss. The c.1220delG mutation of USH1C accounts for 23% of RP among Yemenite Jewish patients in our cohort.

  13. 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...

  14. Familial megacalyces with autosomal recessive inheritance

    International Nuclear Information System (INIS)

    Three children with bilateral congenital megacalyces from a consanguinous marriage are reported. No renal abnormality was detected in the parents. Our observation supports the genetic nature of the disease. The ultrasonographic features of congenital megacalyces are described. (orig.)

  15. Genetics Home Reference: autosomal recessive primary microcephaly

    Science.gov (United States)

    ... are the most common cause of the disorder, accounting for about half of all cases. The genes ... 7 ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific articles on PubMed (1 link) PubMed OMIM (7 links) ...

  16. Genetics Home Reference: autosomal recessive congenital methemoglobinemia

    Science.gov (United States)

    ... In type II, growth is often slowed. Abnormal facial muscle movements can interfere with swallowing, which can lead ... recessive congenital methemoglobinemia type I typically reduce enzyme activity or stability. As a result, the enzyme cannot ...

  17. 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.

  18. Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders

    Directory of Open Access Journals (Sweden)

    Woods C Geoffrey

    2004-11-01

    Full Text Available Abstract Background Cerebral palsy (CP is an heterogeneous group of neurological disorders of movement and/or posture, with an estimated incidence of 1 in 1000 live births. Non-progressive forms of symmetrical, spastic CP have been identified, which show a Mendelian autosomal recessive pattern of inheritance. We recently described the mapping of a recessive spastic CP locus to a 5 cM chromosomal region located at 2q24-31.1, in rare consanguineous families. Methods Here we present data that refine this locus to a 0.5 cM region, flanked by the microsatellite markers D2S2345 and D2S326. The minimal region contains the candidate gene GAD1, which encodes a glutamate decarboxylase isoform (GAD67, involved in conversion of the amino acid and excitatory neurotransmitter glutamate to the inhibitory neurotransmitter γ-aminobutyric acid (GABA. Results A novel amino acid mis-sense mutation in GAD67 was detected, which segregated with CP in affected individuals. Conclusions This result is interesting because auto-antibodies to GAD67 and the more widely studied GAD65 homologue encoded by the GAD2 gene, are described in patients with Stiff-Person Syndrome (SPS, epilepsy, cerebellar ataxia and Batten disease. Further investigation seems merited of the possibility that variation in the GAD1 sequence, potentially affecting glutamate/GABA ratios, may underlie this form of spastic CP, given the presence of anti-GAD antibodies in SPS and the recognised excitotoxicity of glutamate in various contexts. Table 4 GAD1 single nucleotide substitutions detected on mutation analysis and occurring in sequences submitted to NCBI SNP database and in the literature. This is not a definitive list, but includes those described at the time of the mutational analysis. *Nucleotide positions were not provided by Maestrini et al. [47]. Source SNP position in mRNA, from the translational start site (bp Gene position of SNP(bp Amino acid change (ALappalainen et al. (2002 A(-478Del Exon

  19. 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.

  20. 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.

  1. 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.

  2. 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.

  3. 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.

  4. 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

  5. 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.

  6. 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 ...

  7. Genetics Home Reference: autosomal recessive axonal neuropathy with neuromyotonia

    Science.gov (United States)

    ... neuromyotonia is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles ... caused by damage to a particular part of peripheral nerves called axons , which are the extensions of nerve ...

  8. Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.

    OpenAIRE

    Shaw, N J; Haigh, D; Lealmann, G T; Karbani, G.; Brocklebank, J. T.; Dillon, M J

    1991-01-01

    Four children (two boys and two girls) with hypoparathyroidism, renal insufficiency, and developmental delay are described. They were the products of consanguineous marriages in three related Asian families presenting over a six year period. All the children died within the first 15 months of life despite treatment. Postmortem examination on one child showed absent parathyroid glands. We believe these children represent a previously undescribed syndrome that appears to be inherited in an auto...

  9. Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.

    OpenAIRE

    Torra, R.; Alós, L.; Ramos, J.; Estivill, X

    1996-01-01

    We report two brothers with a cystic malformation of the kidneys, liver, and pancreas. In both cases the malformation was fatal and the children died shortly after birth. The pathological findings, consisting of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, dilated pancreatic ducts, and polysplenia, correspond to those reported by Ivemark as renal-hepatic-pancreatic dysplasia. Many polymalformation syndromes include cystic affectation of these three organs, so this syndro...

  10. 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.

  11. TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.

    Science.gov (United States)

    Battelino, Saba; Klancar, Gasper; Kovac, Jernej; Battelino, Tadej; Trebusak Podkrajsek, Katarina

    2016-05-01

    Nonsyndromic genetic deafness is highly heterogeneous in its clinical presentation, pattern of inheritance and underlying genetic causes. Mutations in TMPRSS3 gene encoding transmembrane serine protease account for Slovenia resulting in uniform phenotype with profound congenital hearing loss, and satisfactory hearing and speech recognition outcome after cochlear implantation. Consequently, TMPRSS3 gene analysis should be included in the first tier of genetic investigations of ARNSHL along with GJB2 and GJB6 genes. PMID:26036852

  12. 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 ...

  13. 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

  14. 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

  15. 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 ...

  16. 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

  17. mental

    Directory of Open Access Journals (Sweden)

    Aline Dadalte Carniel

    2005-01-01

    Full Text Available La reforma psiquiátrica posibilitó transformaciones en la atención a la salud mental y el acompañante terapéutico (AT hace parte de esas transformaciones. La finalidad de este estudio fue trabajar esta práctica con el portador de trastorno mental bajo tratamiento realizado por un equipo multiprofesional y, para eso, se utilizaron 16 sesiones de AT, que fueron registradas. Los resultados mostraron la contribución positiva de este tipo de modalidad terapéutica en la atención a este portador, posibilitándole el rescate de diversas cosas que le gustaba hacer y no más hacía, debido a la falta de estímulos, y a la influencia negativa de la institución en la evolución de este trastorno.

  18. 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.

  19. 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.

  20. 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.

  1. 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

  2. Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

    OpenAIRE

    Pang, Junfeng; Zhang, Shu; Yang, Ping; Hawkins-Lee, Bobbilynn; Zhong, Jixin; Zhang, Yushan; Ochoa, Bernardo; Agundez, Jose A.G.; Voelckel, Marie-Antoinette; Fisher, Richard B; Gu, Weikuan; Xiong, Wen-Cheng; Mei, Lin; She, Jin-Xiong; Wang, Cong-Yi

    2010-01-01

    Previously, we localized the defective gene for the urofacial syndrome (UFS) to a region on chromosome 10q24 by homozygosity mapping. We now report evidence that Heparanse 2 (HPSE2) is the culprit gene for the syndrome. Mutations with a loss of function in the Heparanase 2 (HPSE2) gene were identified in all UFS patients originating from Colombia, the United States, and France. HPSE2 encodes a 592 aa protein that contains a domain showing sequence homology to the glycosyl hydrolase motif in t...

  3. 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

  4. 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.

  5. "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.

  6. 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. ...

  7. Familial carnitine deficiency: further evidence for autosomal recessive transmission with variable expression.

    OpenAIRE

    Shahar, E.; Brand, N; Shapira, Y.; Barash, V; Gutman, A

    1988-01-01

    Carnitine deficiency occurring in families has been rarely reported and the genetic transmission has not yet been clearly elucidated. Five members of one family showing marked heterogeneity of carnitine deficiency states are presented. In three patients, there was no correlation between measurable carnitine levels in serum and muscle and the clinical findings. The parents, who are remote relatives from an isolated village in Kurdistan (Iraq), had low muscle carnitine levels; however, they wer...

  8. 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.

  9. 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.

  10. 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...

  11. 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

    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...

  12. New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications.

    Science.gov (United States)

    Telega, Grzegorz; Cronin, David; Avner, Ellis D

    2013-06-01

    Improved neonatal medical care and renal replacement technology have improved the long-term survival of patients with ARPKD. Ten-yr survival of those surviving the first year of life is reported to be 82% and is continuing to improve further. However, despite increases in overall survival and improved treatment of systemic hypertension and other complications of their renal disease, nearly 50% of survivors will develop ESRD within the first decade of life. In addition to renal pathology, patients with ARPKD develop ductal plate malformations with cystic dilation of intra- and extrahepatic bile ducts resulting in CHF and Caroli syndrome. Many patients with CHF will develop portal hypertension with resulting esophageal varices, splenomegaly, hypersplenism, protein losing enteropathy, and gastrointestinal bleeding. Management of portal hypertension may require EBL of esophageal varices or porto-systemic shunting. Complications of hepatic involvement can include ascending cholangitis, cholestasis with malabsorption of fat-soluble vitamins, and rarely benign or malignant liver tumors. Patients with ARPKD who eventually reach ESRD, and ultimately require kidney transplantation, present a unique set of complications related to their underlying hepato-biliary disease. In this review, we focus on new approaches to these challenging patients, including the indications for liver transplantation in ARPKD patients with severe chronic kidney disease awaiting kidney transplant. While survival in patients with ARPKD and isolated kidney transplant is comparable to that of age-matched pediatric patients who have received kidney transplants due to other primary renal diseases, 64-80% of the mortality occurring in ARPKD kidney transplant patients is attributed to cholangitis/sepsis, which is related to their hepato-biliary disease. Recent data demonstrate that surgical mortality among pediatric liver transplant recipients is decreased to <10% at one yr. The immunosuppressive regimen used for kidney transplant recipients is adequate for most liver transplant recipients. We therefore suggest that in a select group of ARPKD patients with recurrent cholangitis or complications of portal hypertension, combined liver-kidney transplant is a viable option. Although further study is necessary to confirm our approach, we believe that combined liver-kidney transplantation can potentially decrease overall mortality and morbidity in carefully selected ARPKD patients with ESRD and clinically significant CHF. PMID:23593929

  13. 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.)

  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. 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 ...

  16. 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.

  17. 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.

  18. Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.

    Science.gov (United States)

    Atik, Tahir; Karakoyun, Miray; Sukalo, Maja; Zenker, Martin; Ozkinay, Ferda; Aydoğdu, Sema

    2015-10-01

    Johanson-Blizzard Syndrome (JBS) (MIM #243800) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, abnormal facial appearance and varying degrees of mental retardation. Mutations in UBR1 gene (MIM *605981) are considered to be responsible for the syndrome. Here, we report a 3 year-old mentally normal JBS girl. The patient presented with exocrine pancreatic insufficiency as well as failure-to-thrive. On dysmorphological examination, she was noted to have an abnormal hair pattern with frontal upsweep and alae nasi hypoplasia. With these findings, JBS diagnosis was established clinically. Molecular analysis of the UBR1 gene revealed two inherited novel mutations; one coming from each parent. These novel mutations were c. 1280T>G and c. 2432+5G>C, and they were found to be disease causing via in-silico analysis. In conclusion, for patients with longstanding exocrine pancreatic insufficiency, it should be considered as being symptomatic of a far broader picture. To omit connection with rare genetic diseases, such as Johanson-Blizzard Syndrome, a detailed dysmorphological examination ought to be performed. PMID:26149651

  19. 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)

  20. 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.

  1. 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.

  2. 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; Dollfus, Hélène; Haugen, Olav H; Cumhur Sener, E; Jurklies, Bernhard; Andreasson, Sten; Kernstock, Christoph; Larsen, Michael; Zrenner, Eberhart; Wissinger, Bernd; Kohl, Susanne

    2011-01-01

    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 and...

  3. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.

    Science.gov (United States)

    Azzedine, Hamid; Zavadakova, Petra; Planté-Bordeneuve, Violaine; Vaz Pato, Maria; Pinto, Nuno; Bartesaghi, Luca; Zenker, Jennifer; Poirot, Olivier; Bernard-Marissal, Nathalie; Arnaud Gouttenoire, Estelle; Cartoni, Romain; Title, Alexandra; Venturini, Giulia; Médard, Jean-Jacques; Makowski, Edward; Schöls, Ludger; Claeys, Kristl G; Stendel, Claudia; Roos, Andreas; Weis, Joachim; Dubourg, Odile; Leal Loureiro, José; Stevanin, Giovanni; Said, Gérard; Amato, Anthony; Baraban, Jay; LeGuern, Eric; Senderek, Jan; Rivolta, Carlo; Chrast, Roman

    2013-10-15

    Charcot-Marie-Tooth disease (CMT) comprises a clinically and genetically heterogeneous group of peripheral neuropathies characterized by progressive distal muscle weakness and atrophy, foot deformities and distal sensory loss. Following the analysis of two consanguineous families affected by a medium to late-onset recessive form of intermediate CMT, we identified overlapping regions of homozygosity on chromosome 1p36 with a combined maximum LOD score of 5.4. Molecular investigation of the genes from this region allowed identification of two homozygous mutations in PLEKHG5 that produce premature stop codons and are predicted to result in functional null alleles. Analysis of Plekhg5 in the mouse revealed that this gene is expressed in neurons and glial cells of the peripheral nervous system, and that knockout mice display reduced nerve conduction velocities that are comparable with those of affected individuals from both families. Interestingly, a homozygous PLEKHG5 missense mutation was previously reported in a recessive form of severe childhood onset lower motor neuron disease (LMND) leading to loss of the ability to walk and need for respiratory assistance. Together, these observations indicate that different mutations in PLEKHG5 lead to clinically diverse outcomes (intermediate CMT or LMND) affecting the function of neurons and glial cells. PMID:23777631

  4. Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.

    Science.gov (United States)

    Neuillé, M; Malaichamy, S; Vadalà, M; Michiels, C; Condroyer, C; Sachidanandam, R; Srilekha, S; Arokiasamy, T; Letexier, M; Démontant, V; Sahel, J-A; Sen, P; Audo, I; Soumittra, N; Zeitz, C

    2016-06-01

    Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder which represents rod photoreceptor dysfunction or signal transmission defect from photoreceptors to adjacent bipolar cells. Patients displaying photoreceptor dysfunction show a Riggs-electroretinogram (ERG) while patients with a signal transmission defect show a Schubert-Bornschein ERG. The latter group is subdivided into complete or incomplete (ic) CSNB. Only few CSNB cases with Riggs-ERG and only one family with a disease-causing variant in SLC24A1 have been reported. Whole-exome sequencing (WES) in a previously diagnosed icCSNB patient identified a homozygous nonsense variant in SLC24A1. Indeed, re-investigation of the clinical data corrected the diagnosis to Riggs-form of CSNB. Targeted next-generation sequencing (NGS) identified compound heterozygous deletions and a homozygous missense variant in SLC24A1 in two other patients, respectively. ERG abnormalities varied in these three cases but all patients had normal visual acuity, no myopia or nystagmus, unlike in Schubert-Bornschein-type of CSNB. This confirms that SLC24A1 defects lead to CSNB and outlines phenotype/genotype correlations in CSNB subtypes. In case of unclear clinical characteristics, NGS techniques are helpful to clarify the diagnosis. PMID:26822852

  5. 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 ...

  6. A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

    OpenAIRE

    Jameel, Muhammad; Klar, Joakim; Tariq, Muhammad; Moawia, Abubakar; Altaf Malik, Naveed; Seema Waseem, Syeda; Abdullah, Uzma; Naeem Khan, Tahir; Raininko, Raili; Baig, Shahid Mahmood; Dahl, Niklas

    2014-01-01

    BACKGROUND: Cerebral palsy (CP) is a heterogeneous neurodevelopmental disorder associated with intellectual disability in one-third of cases. Recent findings support Mendelian inheritance in subgroups of patients with the disease. The purpose of this study was to identify a novel genetic cause of paraplegic CP with intellectual disability in a consanguineous Pakistani family. METHODS: We performed whole-exome sequencing (WES) in two brothers with CP and intellectual disability. Analysis of AP...

  7. 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

  8. 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.

  9. 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.; Jensen, P. K. A.

    2014-01-01

    We report on a 2-year-old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis. The patient had chronic rhinitis with malodorous na...

  10. 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...

  11. 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

  12. The emergence of hepatic fibrosis and portal hypertension in infants and children with autosomal recessive polycystic kidney disease

    International Nuclear Information System (INIS)

    Long-term imaging and clinical findings are reported in six children whose polycystic kidney disease was detected in infancy or early childhood. Over time (2 years to 20 years) all patients developed portal hypertension from hepatic fibrosis, a problem primarily noted in recessive pattern polycystic kidney disease. Mild renal failure (two patients) was accompanied by serious systemic hypertension in the same patients. In one family, one of the babies also showed dilated right hepatic ducts. Imaging studies included urography and CT although recently ultrasonography was the method of choice. The relative renal and hepatic manifestations in these patients so changed with time that it would seem fallacious to attempt to use rigid classifications based on findings at initial diagnosis. (orig.)

  13. Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia

    Science.gov (United States)

    Cai, Xiaodong; Chen, Xin; Wu, Song; Liu, Wenlan; Zhang, Xiejun; Zhang, Doudou; He, Sijie; Wang, Bo; Zhang, Mali; Zhang, Yuan; Li, Zongyang; Luo, Kun; Cai, Zhiming; Li, Weiping

    2016-01-01

    Dystonia is a neurological movement disorder that is clinically and genetically heterogeneous. Herein, we report the identification a novel homozygous missense mutation, c.156 C > A in VPS16, co-segregating with disease status in a Chinese consanguineous family with adolescent-onset primary dystonia by whole exome sequencing and homozygosity mapping. To assess the biological role of c.156 C > A homozygous mutation of VPS16, we generated mice with targeted mutation site of Vps16 through CRISPR-Cas9 genome-editing approach. Vps16 c.156 C > A homozygous mutant mice exhibited significantly impaired motor function, suggesting that VPS16 is a new causative gene for adolescent-onset primary dystonia. PMID:27174565

  14. 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...

  15. Mental Health

    Science.gov (United States)

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

  16. 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 ...

  17. 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 ...

  18. Mental models

    Directory of Open Access Journals (Sweden)

    Marco Antonio Moreira

    1996-12-01

    Full Text Available The mental models subject is presented particularly in the light of Johnson-Laird’s theory. Views from different authors are also presented but the emphasis lies in Johson-Laird’s approach, proposing mental models as a third path in the images x propositions debate. In this perspective, the nature, content, and typology of mental models are discussed, as well as the issue of conciousness and computability. In addition, the methodology of research studies are provided. Essentially, the aim of the paper is to provide an introduction to the mental models topic, having science education research in mind.

  19. 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 ...

  20. Mental Disorders

    Science.gov (United States)

    ... obsessive-compulsive disorder, post-traumatic stress disorder, and phobias Bipolar disorder Depression Mood disorders Personality disorders Psychotic disorders, including schizophrenia There are many causes of mental disorders. Your genes and family history ...

  1. Mental Byomdannelse

    DEFF Research Database (Denmark)

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

    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...... byomdannelse går ud på at skabe bevidsthed om et byudviklingsområde overfor byens borgere, kommende beboere og fremtidige brugere af området allerede mens den fysiske omdannelse er i gang. I publikationen præsenteres en værktøjskasse, som giver redskaber og ideer til, hvordan man kan sætte en mental...... byomdannelsesproces i gang i byens rum. Publikationen udgør en afrapportering fra et støttet forsøgsprojekt hvor metoden ”Mental byomdannelse” er udviklet ved at afprøve ideerne om mental byomdannelse i to cases i Ålborg Kommune, hhv. i Østre Havn og Nibe by. Formålet med at anvende metoden i de to cases har været at...

  2. Mental Retardation.

    Science.gov (United States)

    Baumeister, Alfred A., Ed.

    Thirteen papers by different authors consider the application of research findings and theoretical formulations to the practical appraisal and treatment of mental retardation. All suggest methods for shaping appropriate and adaptive behaviors in retarded individuals. The papers include "Definition, Diagnosis, and Classification" by D.W. Brison,…

  3. 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)

  4. 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 ...

  5. 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 ...

  6. 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

  7. 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

  8. Global Gene Expression Profiling in PPAR-γ Agonist-Treated Kidneys in an Orthologous Rat Model of Human Autosomal Recessive Polycystic Kidney Disease

    Science.gov (United States)

    Yoshihara, Daisuke; Kugita, Masanori; Yamaguchi, Tamio; Aukema, Harold M.; Kurahashi, Hiroki; Morita, Miwa; Hiki, Yoshiyuki; Calvet, James P.; Wallace, Darren P.; Toyohara, Takafumi; Abe, Takaaki; Nagao, Shizuko

    2012-01-01

    Kidneys are enlarged by aberrant proliferation of tubule epithelial cells leading to the formation of numerous cysts, nephron loss, and interstitial fibrosis in polycystic kidney disease (PKD). Pioglitazone (PIO), a PPAR-γ agonist, decreased cell proliferation, interstitial fibrosis, and inflammation, and ameliorated PKD progression in PCK rats (Am. J. Physiol.-Renal, 2011). To explore genetic mechanisms involved, changes in global gene expression were analyzed. By Gene Set Enrichment Analysis of 30655 genes, 13 of the top 20 downregulated gene ontology biological process gene sets and six of the top 20 curated gene set canonical pathways identified to be downregulated by PIOtreatment were related to cell cycle and proliferation, including EGF, PDGF and JNK pathways. Their relevant pathways were identified using the Kyoto Encyclopedia of Gene and Genomes database. Stearoyl-coenzyme A desaturase 1 is a key enzyme in fatty acid metabolism found in the top 5 genes downregulated by PIO treatment. Immunohistochemical analysis revealed that the gene product of this enzyme was highly expressed in PCK kidneys and decreased by PIO. These data show that PIO alters the expression of genes involved in cell cycle progression, cell proliferation, and fatty acid metabolism. PMID:22666229

  9. 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.

  10. 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

    compound heterozygous mutations for all affected subjects in SLC33A1 encoding a highly conserved acetylCoA transporter (AT-1) required for acetylation of multiple gangliosides and glycoproteins. The mutations were found to cause reduced or absent AT-1 expression and abnormal intracellular localization of...... the protein. We also showed that AT-1 knockdown in HepG2 cells leads to reduced ceruloplasmin secretion, indicating that the low copper in serum is due to reduced ceruloplasmin levels and is not a sign of copper deficiency. The severity of the phenotype implies an essential role of AT-1 in proper...

  11. 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

  12. 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; Kreienkamp, Hans-Jürgen; Fehr, Susanne; Baklouti, Karim; Chouchane, Ibtissem; Li, Yun; Rehbein, Monika; Fuchs, Josefine; Fledelius, Hans C; Vilhelmsen, Kaj; Schorderet, Daniel F; Munier, Francis L; Ostergaard, Elsebet; Thompson, Debra A; Rosenberg, Thomas

    2011-01-01

    amino acid long secreted trypsin-like serine peptidase. The c.1066dupC is likely to result in a functional null allele, whereas the two point mutations predict the replacement of evolutionary conserved and functionally important residues. Molecular modeling of the p.Trp309Ser mutant suggests that both...

  13. 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.

  14. 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

  15. 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…

  16. 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 ...

  17. Mental toughness in soccer

    DEFF Research Database (Denmark)

    Diment, Gregory Michael

    2014-01-01

    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...

  18. 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 ...

  19. 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 ...

  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. Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

    DEFF Research Database (Denmark)

    Bisgaard, A-M; Kirchhoff, M; Nielsen, J E; Kibaek, M; Lund, A; Schwartz, M; Christensen, E

    2008-01-01

    A deletion on one chromosome and a mutant allele on the other may cause an autosomal recessive disease. We report on two patients with mental retardation, dysmorphic features and low catalytic activity of arylsulfatase A. One patient had a pathogenic mutation in the arylsulfatase A gene (ARSA) and...

  2. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes

    OpenAIRE

    Slavotinek, A; Tifft, C

    2002-01-01

    Fraser syndrome is characterised by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies. The inheritance is autosomal recessive. No diagnostic cytogenetic abnormalities have been documented in affected patients, and no molecular genetic studies have been reported. We have reviewed 117 cases diagnosed as Fraser syndrome or cryptophthalmos published since the c...

  3. Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.

    OpenAIRE

    Velasco, Guillaume; Walton, Emma; Sterlin, Delphine; Hédouin, Sabrine; Nitta, Hirohisa; Ito, Yuya; Fouyssac, Fanny; Mégarbané, André; Sasaki, Hiroyuki; Picard, Capucine; Francastel, Claire

    2014-01-01

    BACKGROUND: Immunodeficiency Centromeric Instability and Facial anomalies (ICF) is a rare autosomal recessive disease characterized by reduction in serum immunoglobulins with severe recurrent infections, facial dysmorphism, and more variable symptoms including mental retardation. ICF is directly related to a genomic methylation defect that mainly affects juxtacentromeric heterochromatin regions of certain chromosomes, leading to chromosomal rearrangements that constitute a hallmark of this sy...

  4. 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...

  5. 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....

  6. 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...

  7. 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...

  8. Salud mental y adicciones

    OpenAIRE

    Boccalari, Paola

    2013-01-01

    La recientemente reglamentada Ley Nacional de Salud Mental 26.657 plantea amplias reformas en el ámbito de la salud pública. Este escrito se detendrá en uno de los puntos de la ley referido al lugar de las adicciones en las políticas de salud mental. Reflexionará sobre las conexiones entre la salud mental y adicciones. Si bien desde la nueva ley las adicciones forman parte de las políticas de salud mental, la “Y” conectora entre ambas, a la vez que unifica ambos campos, también hace pensar en...

  9. 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

  10. Looking after your mental health

    OpenAIRE

    Public Health Agency

    2010-01-01

    This leaflet outlines the signs of poor mental health and suggests steps that people can take to promote good mental health. It advises people to talk to someone if they feel that they may have a mental health problem.

  11. 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, and...

  12. 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.

  13. Sleep and Mental Health

    Science.gov (United States)

    ... Size Email Print Share Sleep Tips for Children's Mental Health Page Content ​​​Sleep has become a casualty of ... MPH, FAAP Last Updated 5/23/2016 Source Mental Health, Naturally: The Family Guide to Holistic Care for ...

  14. 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 ...

  15. 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...

  16. 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…

  17. 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…

  18. 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

  19. 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 ...

  20. 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 , ...

  1. 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 ...

  2. 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 ...

  3. 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...

  4. 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...

  5. 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 ...

  6. 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.

  7. 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 (...

  8. Mental activity during sleep.

    Science.gov (United States)

    Fagioli, Igino

    2002-08-01

    Since remote antiquity humankind has believed in the supernatural origin of dreaming. The scientific approach to mental activity during sleep dates back to the eighteenth century. One hundred years ago, psychoanalysis introduced dream analysis for diagnostic and therapeutic purposes. Only 50 years ago psychophysiology made it possible to collect mental sleep activity by means of experimental awakenings while monitoring physiological variables; this approach encouraged investigation into the relationship between the features of sleep activity and sleep state (REM versus NREM). Advances in neurophysiology, in neurochemistry, and recently in brain imaging techniques, have shed light on the roles played by the different cerebral structures in determining specific characteristics of mental activity during sleep. The development of cognitive psychology has enabled investigation of dream generation in terms of output from a complex multilevel system of information processing. In addition to sleep state, other factors, such as the time of the night and the sequence of the NREM-REM cycles, have been shown to influence the characteristics of mental activity. The usefulness of investigation of mental sleep activity as a clinical tool is controversial. The psychophysiological approach to mental sleep activity in clinical contexts has enabled the exploration of adaptation processes and contributed to neuropsychological studies on focal and systemic brain pathology. PMID:12531134

  9. Atheism and mental health.

    Science.gov (United States)

    Whitley, Rob

    2010-01-01

    The exploration of the impact of religiosity on mental health is an enduring, if somewhat quiet, tradition. There has been virtually no exploration, however, of the influence of atheism on mental health. Though not a "religion," atheism can be an orienting worldview that is often consciously chosen by its adherents, who firmly believe in the "truth" of atheism-a phenomenon known as "positive atheism." Atheism, especially positive atheism, is currently enjoying something of a renaissance in the Western liberal democracies-a trend often referred to as the "new atheism." I argue that atheism, especially positive atheism, should be treated as a meaningful sociocultural variable in the study of mental health. I argue that atheism (just like theism) is an appropriate domain of study for social and cultural psychiatrists (and allied social scientists) interested in exploring socio-environmental stressors and buffers relating to mental health. Specifically, I argue that (1) atheism needs to be accurately measured as an individual-level exposure variable, with the aim of relating that variable to psychiatric outcomes, (2) there needs to be greater systematic investigation into the influence of atheism on psychiatry as an institution, and (3) the relation of atheism to mental health needs to be explored by examining atheistic theory and its practical application, especially as it relates to the human condition, suffering, and concepts of personhood. PMID:20415634

  10. 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).

  11. 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

  12. 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

  13. 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.

  14. INSTITUTIONALISED MENTALLY RETARDED IN A STATE MENTAL HOSPITAL

    OpenAIRE

    Somasundaram, O.; Papakumari, M.; V Jayanthini; Kumar, M Suresh

    1983-01-01

    SUMMARY 298 institutionalised mentally retarded patients in Institute of Mental Health, Madras were studied for the aetiological factors, levels of intelligence, associated disorders and family structure and compared with 163 matched group of mentally retarded attending the outpatient services of the Institute of Mental Health. In 41% of the institutionalised the cause was unknown, 29.3% had infective aetiology, 18% formed the primary group and 6.4% were due to genetic and chromosomal factors...

  15. 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…

  16. Mental Health Treatment Program Locator

    Science.gov (United States)

    ... County or Zip By Name Other Links State Mental Health Agencies Frequently Asked Questions Links Comments or Questions ... a Facility in Your State To locate the mental health treatment programs nearest you, find your State on ...

  17. 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).

  18. 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)....

  19. 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...

  20. 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…

  1. Teen Mental Health

    Science.gov (United States)

    ... or out of control Use alcohol or drugs Exercise, diet and/or binge-eat obsessively Hurt other people or destroy property Do reckless things that could harm you or others Mental health problems can be treated. To find help, talk ...

  2. 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/ ...

  3. Mini mental state examination

    DEFF Research Database (Denmark)

    Kørner, Ejnar Alex; Lauritzen, Lise; Wang, August;

    2008-01-01

    INTRODUCTION: The Mini Mental State Examination (MMSE) is widely used in Denmark, but often in non-validated versions. In 2000 a cross-sectional workgroup decided on a new common version of the MMSE with a corresponding manual, which is validated for the first time in the present study. MATERIALS...

  4. Teen Mothers' Mental Health.

    Science.gov (United States)

    SmithBattle, Lee; Freed, Patricia

    2016-01-01

    Psychological distress is common in teen mothers. High rates of distress are attributed to teen mothers' childhood adversities and the challenges of parenting in the context of chronic stress, cumulative disadvantage, and limited social support. We describe the prevalence of psychological distress in teen mothers; what is known about its origins and impact on mothers and children; factors that promote teen mothers' mental health and resilience; and the many barriers that make it difficult to obtain traditional mental healthcare. We also briefly review the few studies that test interventions to improve teen mothers' mental health. Because barriers to traditional mental health treatment are ubiquitous and difficult to remedy, the second article in this two-part series calls for nurses in healthcare settings, schools, and home visiting programs to screen pregnant and parenting teens for adverse childhood experiences and psychological distress, and to integrate strength-based and trauma-based principles into their practice. Creating a supportive setting where past traumas and psychological distress are addressed with skill and sensitivity builds upon teen mothers' strengths and their aspirations to be the best parents they can be. These approaches facilitate the long-term health and development of mother and child. PMID:26474475

  5. 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.

  6. Rhythms of Mental Performance

    Science.gov (United States)

    Valdez, Pablo; Reilly, Thomas; Waterhouse, Jim

    2008-01-01

    Cognitive performance is affected by an individual's characteristics and the environment, as well as by the nature of the task and the amount of practice at it. Mental performance tests range in complexity and include subjective estimates of mood, simple objective tests (reaction time), and measures of complex performance that require decisions to…

  7. 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...

  8. 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…

  9. 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.

  10. 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 ...

  11. 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

  12. 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.

  13. 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 ...

  14. 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...

  15. 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...

  16. Mentalization-Based Treatment

    OpenAIRE

    Bateman, A; Fonagy, P.

    2013-01-01

    The concept of mentalizing has captured the interest and imagination of an astonishing range of people—from psychoanalysts to neuroscientists, from child development researchers to geneticists, from existential philosophers to phenomenologists—all of whom seem to have found it useful. According to the Thompson Reuter maintained Web of Science, the use of the term in titles and abstracts of scientific papers increased from 10 to 2,750 between 1991 and 2011. Clinicians in particular have enthus...

  17. 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)

  18. [Mental Health and relationships].

    Science.gov (United States)

    Spivacow, Miguel Alejo

    2012-01-01

    After acknowledging that the diversity of cultural, historical and theoretical perspectives has given place to multiple definitions of mental health, the author circumscribes the goal of this article to reflecting on mental health from the viewpoint of human relationships in intersubjective milieux. The basic assumption that guides this paper is that the subject's psychic structure is constituted and developed in a relational matrix. Conceptualized in a relational context, the individual's mental health needs to take into account each member's developmental stage and asymmetrical position in a relationship. In the theoretical and therapeutic approach proposed here, drive renunciation, negative pacts, and intersubjective work are described as basic concepts in the analysis of relational links. Drive renunciation is defined as the operation that excludes certain drives derivatives from explicit relational interchange in order to maintain the structure and stability of the relationship. Negative pacts are defined as the configurations of reciprocal libidinal investments that give form to drive renunciation. The concept of intersubjective work places the emphasis on the interaction of the poles of the relationship, on how what one does influences the other's response. Thus, in the therapeutic context, intersubjective work accounts for each member's processes of symbolization and working through in the interchange and reciprocal impact of each member on the transformation of the relationship. Finally, the complexities around the formulation of therapeutic goals are emphasized and the occasional need of an interdisciplinary therapeutic plan is highlighted. PMID:22880195

  19. Mental Retardation and Parenting Stress

    OpenAIRE

    Eleni Siamaga; Anastasia Lianou; Dimitrios Priftis; Eirini Lianou; Chrisanthi Avgerinou; Savvas Karasavvidis

    2011-01-01

    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 ...

  20. 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 ...

  1. 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...

  2. Immigrant Mental Health and Unemployment

    OpenAIRE

    Steven Kennedy

    2003-01-01

    The objective of this research is to assess whether stress associated with the transition to a new country combined with additional stress arising from unemployment affects the mental health of immigrants. I use the Longitudinal Survey of Immigrants to Australia (LSIA) to examine the effect of labour force status on the mental health of immigrants. By using a rich longitudinal data set, I am able to control for individual immigrant differences whilst examining whether changes in mental health...

  3. Students’ perception about mental illness

    OpenAIRE

    R K Mahto; Verma, P. K.; Verma, A.N.; Singh, A. R.; Chaudhury, S.; Shantna, K.

    2009-01-01

    Background: In developing countries like India, there are evidences that stigma associated with mental illness is increasing. As in parts of the developing world, with advancement of urbanization and rapid industrialization, people tend to react in a very peculiar and biased way when they confront a mentally ill person. Materials and Methods: The present study aimed to find out students′ opinion about mental illness. A total of 100 students (50 male and 50 female) from Ranchi University were...

  4. 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...

  5. 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...

  6. Advances in modern mental chronometry

    OpenAIRE

    Medina, José M.; Wong, Willy; Díaz, José A.; Colonius, Hans

    2015-01-01

    Mental chronometry encompasses all aspects of time processing in the nervous system and constitutes a standard tool in many disciplines including theoretical and experimental psychology and human neuroscience. Mental chronometry has represented a fundamental approach to elucidate the time course of many cognitive phenomena and their underlying neural circuits over more than a century. Nowadays, mental chronometry continues evolving and expanding our knowledge, and our understanding of the tem...

  7. Mental models of the operator

    International Nuclear Information System (INIS)

    A brief explanation is presented of the mental model concept, properties of mental models and fundamentals of mental models theory. Possible applications of such models in nuclear power plants are described in more detail. They include training of power plant operators, research into their behaviour and design of the operator-control process interface. The design of a mental model of an operator working in abnormal conditions due to power plant malfunction is outlined as an example taken from the literature. The model has been created based on analysis of experiments performed on a nuclear power plant simulator, run by a training center. (author)

  8. 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....... Stigmatization and social barriers occurred. Social relations to peer residents and staff were reported as potentially having a positive and negative impact on recovery. Studies have explored the user's perspectives on recovery but this study contributes with knowledge on how recovery-oriented services have an...

  9. 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)

  10. 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

  11. Mental retirement and schooling

    DEFF Research Database (Denmark)

    Bingley, Paul; Martinello, Alessandro

    2013-01-01

    We assess the validity of differences in eligibility ages for early and old age pension benefits as instruments for estimating the effect of retirement on cognitive functioning. Because differences in eligibility ages across country and gender are correlated with differences in years of schooling......, which affect cognitive functioning at old ages, they are invalid as instruments without controlling for schooling. We show by means of simulation and a replication study that unless the model incorporates schooling, the estimated effect of retirement is negatively biased. This explains a large part of...... the “mental retirement” effects which have recently been found...

  12. Mindfulness og mental sundhed

    DEFF Research Database (Denmark)

    Wistoft, Karen

    2011-01-01

    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...... they rely on. Here, focus is on potential opportunities of action and achievement of objectives. The break means that the focus on human action potential is replaced with a focus on experience and non-judgmental attention. Future is replaced with present or eternity....

  13. 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…

  14. 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

  15. American Christian Engagement With Mental Health and Mental Illness.

    Science.gov (United States)

    Kinghorn, Warren A

    2016-01-01

    Although religious belief and practice are relevant to mental health outcomes, many clinicians lack knowledge of particular religious traditions required to make informed judgments about referral to and collaboration with faith-based organizations and clinicians. This Open Forum examines five diverse American Christian approaches to mental health and mental illness-pastoral care and counseling, biblical counseling, integrationism, Christian psychology, and the work of the Institute for the Psychological Sciences--that are relevant for contemporary mental health service delivery. Each of these movements is briefly described and placed in historical, conceptual, and organizational context. Knowledge of the diverse and varied terrain of American Christian engagement with mental health care can inform clinicians' interactions with faith-based providers, clarify opportunities for responsible collaboration, and provide important insight into religious subcultures with faith-based concerns about contemporary psychiatric care. PMID:26369885

  16. 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...

  17. 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

  18. 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…

  19. 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.

  20. Nous enfocaments en salut mental

    OpenAIRE

    Ballester Ferrando, David

    2008-01-01

    L’atenció a la salut mental al llarg de la història es troba plena de desoris i de grans injustícies. Durant molts segles les persones amb malaltia mental han estat arraconades i menyspreades per la societat, que les ha reclòs en institucions psiquiàtriques tancades: els manicomis

  1. 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…

  2. 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…

  3. 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

  4. 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.

  5. 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.

  6. 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

  7. 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.

  8. 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

  9. 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

  10. Criminal law and mental illness

    Directory of Open Access Journals (Sweden)

    Stojanović Zoran

    2015-01-01

    Full Text Available The paper deals with the problem of criminal law reaction to behavior of mentally ill, insane offenders who violate or threaten the criminal law protected values. To the preliminary question of whether the criminal reaction is generally justified in regard to quasi-criminal acts of mentally ill persons (which are not criminal in the true sense because they lack mens rea which is a constituent element of each offense, the answer is still yes. There are no other, more appropriate forms of social control, or other legal mechanisms that could more effectively than the criminal law, while respecting the safeguards that have become indispensable in criminal law, protect important goods of the individual or society from the harmful behavior of mentally ill persons. Although the entire criminal law is based on guilt and the subjective attitude of the offender towards the criminal offense for which he is exposed to the social-ethical reprimand, it is excluded in case of mentally ill, insane offenders and implementation of appropriate security measures. Capabilities of criminal law in performing a protective function relative to mentally ill offenders are certainly more modest than in case of perpetrators who can be held accountable. The entire general prevention (whether positive or negative underlying protective function of criminal law, is almost inconceivable in relation to potential offenders who are mentally ill. Available options are reduced to detention and psychiatric treatment of the mentally ill offender. The application of security measures to insane, mentally ill persons is limited, therefore, mainly to certain aspects of special prevention. Even exercising social control through criminal law differs, significantly, depending on whether we talk about incompetent, mentally ill persons or those who have normal mental abilities.

  11. 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

  12. 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

  13. 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.)

  14. 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...

  15. 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...

  16. Sanjad-Sakati Syndrome Dental Management: A Case Report

    OpenAIRE

    Hisham Y. El Batawi

    2013-01-01

    Sanjad-Sakati syndrome (SSS) is a rare genetic disorder with autosomal recessive pattern of inheritance characterized by hypoparathyroidism, sever growth failure, mental retardation, susceptibility to chest infection, and dentofacial anomalies. A child with SSS was referred to the dental departmentseeking dental help for sever dental caries which was attributed to his dietary habits and quality of dental tissues. Full restorative rehabilitation was done under general anesthesia. Two years lat...

  17. 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.

  18. PREVALENCE OF SEIZURE IN PKU:AN ANALYTIC HISTORICAL STUDY

    OpenAIRE

    Feisal RAHIMPOUR; AALAEI Mohammad Reza; KARIMZADEH, Parvaneh

    2010-01-01

    ObjectivePhenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH) which can cause problems with brain development, leading to progressive mental retardation, brain damage, and seizures. In this study we evaluated the frequency of seizure, EEG abnormality and behavioral disorders.Materials & Methods In this case study, 94 PKU children aged between 1 month and 23 years who were referred to Mofi...

  19. The PKU locus in man is on chromosome 12.

    OpenAIRE

    Lidksy, A S; Robson, K J; Thirumalachary, C; Barker, P. E.; Ruddle, F. H.; Woo, S L

    1984-01-01

    Classical phenylketonuria (PKU) is a typical example of inborn errors in metabolism and is characterized by a complete lack of the hepatic enzyme phenylalanine hydroxylase, which normally converts phenylalanine to tyrosine. The genetic disorder causes impairment of postnatal brain development, resulting in severe mental retardation in untreated children. The disease is transmitted as an autosomal recessive trait and has a collective prevalence of about one in 10,000 among Caucasians, so that ...

  20. 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...

  1. Johanson-Blizzard syndrome

    OpenAIRE

    2011-01-01

    Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems. More than 60 cases of this syndrome have been reported to date. We describe the case of a male infant with typical sy...

  2. Bardet-Biedl syndrome: A rare case report from North India

    Directory of Open Access Journals (Sweden)

    Sumir Kumar

    2012-01-01

    Full Text Available The Bardet-Biedl syndrome (BBS is a rare ciliopathic human autosomal-recessive disorder, affecting multiple organ systems. Less than 15 cases have been reported from India. The authors present a classical case of BBS presenting to dermatology outpatient with hypogonadism and features such as marked central obesity, retinal dystrophy, polydactyly, structural renal abnormalities and mental retardation, along with a brief review of the literature. This case exemplifies the need for multidisciplinary management in such cases.

  3. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

    OpenAIRE

    Beales, P; Elcioglu, N; Woolf, A; Parker, D.; Flinter, F

    1999-01-01

    Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. BBS expression varies both within and between families and diagnosis is often difficult. We sought to define the condition more clearly by studying 109 BBS patients and their families, the largest population surveyed to date. The average age at diagnosis was 9 years, which is late for such a debili...

  4. Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure

    OpenAIRE

    Cem Sahin; Bulent Huddam; Gulhan Akbaba; Hasan Tunca; Emine Koca; Mustafa Levent

    2015-01-01

    Bardet-Biedl Syndrome (BBS) is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, obesity, extremity deformities, mental retardation, and renal and genital system anomalies. BBS shows heterogenic transfer. To date, 18 genes (BBS1–18) and 7 BBS proteins have been defined as related to BBS. All of the defined BBS genes have been shown to be related to the biogenesis or function of cilia. Renal failure accompanying the syndrome, especially in the advanced stag...

  5. 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.)

  6. Disease: H01015 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available ne-rod dystrophy and amelogenesis imperfecta. It is caused mutations in the CNNM4 gene that encodes a putati...mental disorder CNNM4 [HSA:26504] [KO:K16302] Cone-rod dystrophy and amelogenesis imperfect...consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet 84:266-73 (...2009) PMID:20706282 (descritpion) Jalili IK Cone-rod dystrophy and amelogenesis imperfect

  7. 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.

  8. Childhood Ataxia with Cerebral Hypomyelination Syndrome: a Variant of Patient with Early Childhood Onset Related to EIF2B3 Mutation. A Case Report.

    Science.gov (United States)

    Perfetto, F; Stoppino, L P; Calì, A; Milillo, P; Grilli, G; Vinci, R; Macarini, L

    2012-03-01

    Childhood ataxia with central nervous system hypomyelination (CACH) syndrome is an autosomal recessive transmitted leukodystrophy characterised by early childhood onset and acute deterioration following febrile illnesses or head trauma. We describe the case of a child with early onset of CACH syndrome. He presented with cerebellar ataxia beginning around two years of age with mild mental retardation. MRI showed diffuse white matter signal changes with thinning of the corpus callosum. PMID:24028880

  9. 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.

  10. Students′ perception about mental illness

    Directory of Open Access Journals (Sweden)

    R K Mahto

    2009-01-01

    Full Text Available Background: In developing countries like India, there are evidences that stigma associated with mental illness is increasing. As in parts of the developing world, with advancement of urbanization and rapid industrialization, people tend to react in a very peculiar and biased way when they confront a mentally ill person. Materials and Methods: The present study aimed to find out students′ opinion about mental illness. A total of 100 students (50 male and 50 female from Ranchi University were purposively recruited for the study, and the 51-item Opinion about Mental Illness (OMI Scale was administered. Results: Majority of the students were from Hindu families, of whom 42 (84% were males and 38 (68% were females. With regard to OMI scale, the item, viz., ′The law should allow a woman to divorce her husband as soon as he has been confined in mental hospital with a severe mental illness′, both male (46% and female (56% students were neutral (significant at 0.014, P < 0.05. Conclusion: Overall no significant level of difference emerged between male and female students with regard to opinion about mental illness.

  11. 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...

  12. Mental Verb Term and Mental Verbs in Turkmen Turkish

    OpenAIRE

    Savaş ŞAHİN

    2012-01-01

    The first stage of the mental processes is acquisition. The duty of acquiring is to make the knowledge coming from different senses reach language centers in brain. So the function of language processes starts with acquisition. The second stage of the mental process of a language is commenting and understanding perceptions. That is, information coming from the different senses is put into operation. At this stage, connections of knowledge coming from outside and knowledge that is coded in bra...

  13. 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

  14. 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

  15. Mental life in the space of reasons

    DEFF Research Database (Denmark)

    Brinkmann, Svend

    2006-01-01

    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...... it violates our conception of mental illness as something mental, yet outside the space of reasons...

  16. Community nursing care for the mentally retarded

    Directory of Open Access Journals (Sweden)

    C.D. Reingold

    1980-09-01

    Full Text Available Community care for the mentally retarded takes cognisance of the many facets of care required and available for the mentally retarded. Community care may be regarded as care provided by the general public for the mentally retarded in their midst as well as care provided by the professionals, particularly health and teaching professions, for the mentally retarded in the community.

  17. 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…

  18. Mental Health Care: Who's Who

    Science.gov (United States)

    ... Find a Pediatrician Newsletters Symptom Checker Apps E-Magazine Our Mission Our Mission Our Mission AAP in ... used to measure a young person’s intellect and psychological health. All of the mental health counselors listed ...

  19. 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 ...

  20. 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)

  1. Mental Health and African Americans

    Science.gov (United States)

    ... Program Grants Other Grants Planning and Evaluation Grantee Best Practices Black/African American Asthma Cancer Chronic Liver Disease Diabetes Heart Disease Hepatitis HIV/AIDS Immunizations Infant Heath & Mortality Mental Health Obesity Organ and Tissue Donation Stroke Stay Connected ...

  2. Mental Health and Asian Americans

    Science.gov (United States)

    ... Program Grants Other Grants Planning and Evaluation Grantee Best Practices Asian American Asthma Cancer Chronic Liver Disease Diabetes Heart Disease Hepatitis HIV/AIDS Immunizations Infant Heath & Mortality Mental Health Obesity Organ and Tissue Donation Stroke Stay Connected ...

  3. 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 ...

  4. Mental Illness and Juvenile Offenders.

    Science.gov (United States)

    Underwood, Lee A; Washington, Aryssa

    2016-02-01

    Within the past decade, reliance on the juvenile justice system to meet the needs of juvenile offenders with mental health concerns has increased. Due to this tendency, research has been conducted on the effectiveness of various intervention and treatment programs/approaches with varied success. Recent literature suggests that because of interrelated problems involved for youth in the juvenile justice system with mental health issues, a dynamic system of care that extends beyond mere treatment within the juvenile justice system is the most promising. The authors provide a brief overview of the extent to which delinquency and mental illness co-occur; why treatment for these individuals requires a system of care; intervention models; and the juvenile justice systems role in providing mental health services to delinquent youth. Current and future advancements and implications for practitioners are provided. PMID:26901213

  5. Warning Signs of Mental Illnesses

    Science.gov (United States)

    ... Illness What Is Psychiatry? What Is Mental Illness? Suicide Prevention What is ECT? Ask An Expert Share Your Story Become an APA Member Learn More Explore APA Psychiatrists Residents & Medical Students Patients & Families About APA Newsroom News Releases Psychiatric ...

  6. Mentalization and Dialectical Behavior Therapy.

    Science.gov (United States)

    Swenson, Charles R; Choi-Kain, Lois W

    2015-01-01

    Dialectical Behavior Therapy (DBT) and Mentalization-Based Treatment (MBT) are two approaches to the treatment of borderline personality disorder (BPD). While DBT has the most empirical support, MBT has a small but significant evidence base. Dialectical behavior therapy synthesizes behaviorism, mindfulness, and dialectics, while MBT is conceptually anchored in psychoanalysis, attachment theory, cognitive neuroscience, and developmental psychopathology. While coming from strikingly different orientations, DBT and MBT therapists share more interventions and stances than one might suppose. The central purported active ingredient of MBT is the capacity to mentalize, which is crucial for the formation of secure attachment, and this ability is thought to be weak and unstable in individuals with borderline personality disorder. This article explores the question of whether or not mentalizing is already present in DBT practice, whether it would be compatible with DBT conceptually and practically, and whether a focus on mentalizing would be of use to the DBT therapists and their patients. PMID:26160623

  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. 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...

  9. The Waterford mental health survey

    OpenAIRE

    Carr, Alan; Keenleyside, Mairi; Fitzhenry, Mark; et al.

    2015-01-01

    The primary objective of the Waterford Mental Health Survey was to document the prevalence of co-morbid personality disorders in a sample of inpatients and outpatients attending the HSE mental health service in Waterford and outline the implications of this for service development. Between July 2011 and June 2014, 100 inpatients and 99 outpatients were evaluated with the Structured Clinical Interviews for DSM-IV axis I and II disorders, the Childhood Trauma Questionnaire, the Global Assessmen...

  10. 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...

  11. 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 ...

  12. 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 ...

  13. Criminal law and mental illness

    OpenAIRE

    Stojanović Zoran

    2015-01-01

    The paper deals with the problem of criminal law reaction to behavior of mentally ill, insane offenders who violate or threaten the criminal law protected values. To the preliminary question of whether the criminal reaction is generally justified in regard to quasi-criminal acts of mentally ill persons (which are not criminal in the true sense because they lack mens rea which is a constituent element of each offense), the answer is still yes. There are no o...

  14. 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 ...

  15. 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...

  16. 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...

  17. 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.

  18. 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

  19. 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.

  20. 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

  1. Integrating physical and mental health promotion strategies

    OpenAIRE

    Palma, Jessica Anne

    2010-01-01

    While health is defined as ‘a state of complete physical, mental and social well-being’, physical and mental health have traditionally been separated. This paper explores the question: How can physical and mental health promotion strategies be integrated and addressed simultaneously? A literature review on why physical and mental health are separated and why these two areas need to be integrated was conducted. A conceptual framework for how to integrate physical and mental health promotion st...

  2. 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...

  3. 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...

  4. Development of Mental Health Indicators in Korea

    OpenAIRE

    Han, Hyeree; Ahn, Dong Hyun; Song, Jinhee; Hwang, Tae Yeon; Roh, Sungwon

    2012-01-01

    Objective: Promoting mental health and preventing mental health problems are important tasks for international organizations and nations. Such goals entail the establishment of active information networks and effective systems and indicators to assess the mental health of populations. This being said, there is a need in Korea develop ways to measure the state of mental health in Korea. Methods: This paper reviews the mental health indicator development policies and practices of seven organiza...

  5. 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...

  6. Visual mental imagery during caloric vestibular stimulation

    OpenAIRE

    Mast, Fred W.; Merfeld, Daniel M.; Kosslyn, Stephen M.

    2006-01-01

    We investigated high-resolution mental imagery and mental rotation, while the participants received caloric vestibular stimulation. High-resolution visual mental imagery tasks have been shown to activate early visual cortex, which is deactivated by vestibular input. Thus, we predicted that vestibular stimulation would disrupt high-resolution mental imagery; this prediction was confirmed. In addition, mental rotation tasks have been shown to activate posterior parietal cortex, which is also en...

  7. Does mental exertion alter maximal muscle activation?

    OpenAIRE

    Vianney Rozand; Benjamin Pageaux

    2014-01-01

    Mental exertion is known to impair endurance performance, but its effects on neuromuscular function remain unclear. The purpose of this study was to test the hypothesis that mental exertion reduces torque and muscle activation during intermittent maximal voluntary contractions of the knee extensors. Ten subjects performed in a randomized order three separate mental exertion conditions lasting 27 minutes each: i) high mental exertion (incongruent Stroop task), ii) moderate mental exertion (con...

  8. Does mental exertion alter maximal muscle activation?

    OpenAIRE

    Rozand, Vianney; Pageaux, Benjamin; Marcora, Samuele M.; Papaxanthis, Charalambos; Lepers, Romuald

    2014-01-01

    Mental exertion is known to impair endurance performance, but its effects on neuromuscular function remain unclear. The purpose of this study was to test the hypothesis that mental exertion reduces torque and muscle activation during intermittent maximal voluntary contractions of the knee extensors. Ten subjects performed in a randomized order three separate mental exertion conditions lasting 27 min each: (i) high mental exertion (incongruent Stroop task), (ii) moderate mental exertion (congr...

  9. Mentalization based treatment for borderline personality disorder

    OpenAIRE

    Bateman, Anthony; Fonagy, Peter

    2010-01-01

    Mentalizing is the process by which we make sense of each other and ourselves, implicitly and explicitly, in terms of subjective states and mental processes. It is a profoundly social construct in the sense that we are attentive to the mental states of those we are with, physically or psychologically. Given the generality of this definition, most mental disorders will inevitably involve some difficulties with mentalization, but it is the application of the concept to the tre...

  10. 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

  11. Mentalizacja. Cz. 1: Wprowadzenie do zagadnienia, wymiary mentalizacji [Mentalization. Part 1: Introduction, dimensions of mentalization

    OpenAIRE

    Adamczyk, Leszek

    2013-01-01

    In this article, the author presents a review of a construct of mentalization as it is developed by P. Fonagy and his collaborators. Mentalizing is the process of making sense of mental states in oneself and other persons in terms of subjective states (e.g. wishes, desires, beliefs) and mental processes. The concept of mentalization is rooted in the attachment theory and theory of mind (ToM). Mentalization is assessed by the measure of the reflective function.

  12. Mentalizacja. Cz. 1: Wprowadzenie do zagadnienia, wymiary mentalizacji [Mentalization. Part 1: Introduction, dimensions of mentalization

    Directory of Open Access Journals (Sweden)

    Adamczyk, Leszek

    2013-10-01

    Full Text Available In this article, the author presents a review of a construct of mentalization as it is developed by P. Fonagy and his collaborators. Mentalizing is the process of making sense of mental states in oneself and other persons in terms of subjective states (e.g. wishes, desires, beliefs and mental processes. The concept of mentalization is rooted in the attachment theory and theory of mind (ToM. Mentalization is assessed by the measure of the reflective function.

  13. 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...

  14. Differences between spatial and visual mental representations

    Directory of Open Access Journals (Sweden)

    Jan FrederikSima

    2013-05-01

    Full Text Available This article investigates the relationship between visual mental representations and spatial mental representations in human visuo-spatial processing. By comparing two common theories of visuo-spatial processing - mental model theory and the theory of mental imagery - we identified two open questions: 1 which representations are modality-specific, and 2 what is the role of the two representations in reasoning. Two experiments examining eye movements and preferences for under-specified problems were conducted to investigate these questions. We found that significant spontaneous eye movements along the processed spatial relations occurred only when a visual mental representation is employed, but not with a spatial mental representation. Furthermore, the preferences for the answers of the under-specified problems differed between the two mental representations. The results challenge assumptions made by mental model theory and the theory of mental imagery.

  15. Nutritional therapies for mental disorders.

    Science.gov (United States)

    Lakhan, Shaheen E; Vieira, Karen F

    2008-01-01

    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 noncompliant patients who

  16. 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

  17. 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.

  18. 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)

  19. Triple mental foramina of the mandible

    International Nuclear Information System (INIS)

    Mental foramen represents the ending of mandibular canal and is very important for the clinical practice of dentists and orthognatic surgeons. Variations of mandibular foramina according to the number and location of accessory mental foramina could be a reason for complications during anesthesia, dental implants and other surgical procedures in this area. We present an extremely rare case of a triple mental foramina in the left mandible diagnosed by CBCT examination. Information concerning additional mental foramina is very important for the clinical practice in order to prevent possible neurosensory disturbances and haemorage during or after surgical intervention in this part of the mandible. (authors) Key words: CBCT. ACCESSORY MENTAL FORAMEN. IMPLANT. MENTAL FORAMEN

  20. 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.

  1. '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

  2. 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

  3. 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. PMID:21932925

  4. [Burn injuries and mental health].

    Science.gov (United States)

    Palmu, Raimo; Vuola, Jyrki

    2016-01-01

    Currently a large proportion of patients with severe burn injuries survive. This gives increasing challenges also for psychological recovery after the trauma. More than half of burn patients have mental disorders already before the burn injury but also patients who previously had no mental disorders may suffer from them. Some of the hospitalize burn patients have injuries due to suicidal attempts. Only a small proportion of burn patients receive appropriate psychiatric care although psychosocial interventions specifically planned for burn victims exist. More frequent screening of symtoms of mental disorders and psychiatric consultation, also after acute care in hospital, could lead to better management of post-burn psychiatric care as well as better management of the burn treatment and rehabilitation itself. PMID:27089616

  5. Zambia mental health country profile.

    Science.gov (United States)

    Mayeya, John; Chazulwa, Roy; Mayeya, Petronella Ntambo; Mbewe, Edward; Magolo, Lonia Mwape; Kasisi, Friday; Bowa, Annel Chishimba

    2004-01-01

    This country profile for Zambia was compiled between 1998 and 2002. The objectives of the exercise were to first of all avail policymakers, other key decision makers and leaders in Zambia, information about mental health in Zambia in order to assist policy and services development. Secondly, to facilitate comparative analyses of mental health services between countries. The work involved formation of a core group of experts who coordinated the collection of information from the various organizations in Zambia. The information was later shared to a broad spectrum of stakeholders for consensus. A series of focus group discussions (FGDs) supplemented the information collected. There are various factors that contribute to mental health in Zambia. It is clear from the Zambian perspective that social, demographic, economic, political, environmental, cultural and religious influences affect the mental health of the people. With a population of 10.3 million and annual growth rate of 2.9%, Zambia is one of the most urbanized countries in sub-Saharan Africa. Poverty levels stood at 72.9% in 1998. In terms of unemployment, the most urbanized provinces, Lusaka (the capital city), and the copper-belt are the most affected. The gross domestic product (GDP) is US$3.09 billion dollars while per capita income is US$300. The total budget allocation for health in the year 2002 was 15% while the proportion of the GDP per capita expenditure for health was 5.6%. The HIV/AIDS prevalence rates stand at 20% among the reproductive age group 15-49 years. Political instability and wars in neighbouring states has resulted in an influx of refugees. Environmental factors affecting the country include natural and man-made disasters such as floods and drought, mine accidents, and deforestation. To a large extent in Zambia, people who are mentally ill are stigmatized, feared, scorned at, humiliated and condemned. However, caring for mental ill health in old age is positively perceived. It is

  6. Impact of mental operation instructions.

    Science.gov (United States)

    Dickinson, Joël; Szeligo, Frank

    2008-12-01

    Experiments were conducted to test the impact of embedding mental action verbs within instructions. Experiment 1 examined the instructional effects of these verbs on response time to a visual stimulus. Significant response time differences resulted from instructing participants to engage in different mental actions. Using Multidimensional Scaling, Experiment 2 explored how people understand the relationships amongst mental action verbs, resulting in a single "level of processing" dimension. Experiment 3 was designed to further explore the relationship of these verbs to cognition and behaviour. Signal detection analysis was used to determine if participants were shifting their criterion depending on the level of processing suggested in the instruction. Results showed an effect of instruction on response time, but not on criterion, sensitivity, or accuracy. Response time effects were found that were consistent with differences in word characteristics, including meaning. PMID:19071988

  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. 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.

  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. 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...

  12. Enfermedad mental : familia y sociedad

    OpenAIRE

    García Fernández, Sonia

    2012-01-01

    A lo largo de la historia, la enfermedad mental ha tenido consideraciones diferentes. Las personas que las padecían han sido, desde adoradas, hasta perseguidas. Reseñar que a día de hoy, siglo XXI, sigue habiendo una discriminación negativa por parte de la sociedad. La enfermedad mental independientemente del trastorno que el enfermo sufra, (depresión, esquizofrenia, trastorno bipolar) conlleva gran sobrecarga para los familiares por lo que éstos necesitan tener un gran apoyo social y cuidado...

  13. 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.

  14. 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…

  15. 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 ...

  16. 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.

  17. 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...

  18. Contemporary Perspectives on Spirituality and Mental Health

    OpenAIRE

    Sharma Pulkit; Charak Ruby; Sharma Vibha

    2009-01-01

    The paper strives to elucidate the complex yet intimate relation between spirituality and mental health from contemporary perspectives. The diverse and constantly evolving views that spiritualists and mental health professionals have held toward each other over last century are discussed with special accent on the transpersonal spiritual framework within psychology. The role of spirituality in promoting mental health and alleviating mental illness is highlighted. The paper is concluded with a...

  19. Empirical evidence about recovery and mental health

    OpenAIRE

    Slade, Mike; Longden, Eleanor

    2015-01-01

    Background Two discourses exist in mental health research and practice. The first focuses on the limitations associated with disability arising from mental disorder. The second focuses on the possibilities for living well with mental health problems. Discussion This article was prompted by a review to inform disability policy. We identify seven findings from this review: recovery is best judged by experts or using standardised assessment; few people with mental health problems recover; if a p...

  20. Cannabis Use and Mental Health Problems

    OpenAIRE

    Jan C. van Ours & Jenny Williams

    2009-01-01

    This paper investigates whether cannabis use leads to worse mental health. To do so, we account for common unobserved factors a ecting mental health and cannabis consumption by modeling mental health jointly with the dynamics of cannabis use. Our main nding is that using cannabis increases the likelihood of mental health problems, with current use having a larger e ect than past use. The estimates suggest a dose response relationship between the frequency of recent cannabis use and the probab...

  1. Cannabis Use and Mental Health Problems

    OpenAIRE

    2009-01-01

    This paper investigates whether cannabis use leads to worse mental health. To do so, we account for common unobserved factors affecting mental health and cannabis consumption by modeling mental health jointly with the dynamics of cannabis use. Our main finding is that using cannabis increases the likelihood of mental health problems, with current use having a larger effect than past use. The estimates suggest a dose response relationship between the frequency of recent cannabis use and the pr...

  2. Dichotic Stimulation and Mental Retardation.

    Science.gov (United States)

    Mosley, James L.; Virbancic, Mirna I.

    1990-01-01

    This paper reviews literature on the use of dichotic stimulation in individuals with mental retardation, and examines how noninvasive dichotic stimulation relates to hemisphere lateralization. Common findings are discussed concerning direction and magnitude of ear asymmetries, patterns of intrusion errors, and speech lateralization of Down…

  3. Children's Mental Health. Beginnings Workshop.

    Science.gov (United States)

    Plattner, Ilse Elisabeth; Haugen, Kirsten; Cohen, Alan; Levin, Diane E.

    2003-01-01

    Presents four articles discussing mental health issues that pertain to early childhood education: "Granting Children Their Emotions" (Ilse Elisabeth Plattner); "Double Vision: Parent and Professional Perspectives on Our Family's Year in Crisis" (Kirsten Haugen); "Coping with Stress and Surviving Challenging Times" (Alan Cohen); and "When the World…

  4. 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)

  5. 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

  6. Social work in mental retardation

    Directory of Open Access Journals (Sweden)

    Y. Herring

    1980-09-01

    Full Text Available In this article the field of mental retardation will be examined focusing on the changes that have taken place in this field. In so doing an attempt will be made to indicate that because of these changes, new ideas and attitudes, the role of the social worker has emerged as a very important one.

  7. 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…

  8. Mental Strategies for Peak Performance

    Science.gov (United States)

    Wang, Jin

    2006-01-01

    A key to controlling competitive anxiety under pressure is to develop an effective attentional strategy to use before competition. This article: (1) examines the causes and psychological mechanics of pre-competitive anxiety; (2) provides athletes with an easily understandable mental strategy for practical use; and (3) provides coaches with…

  9. 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…

  10. 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...

  11. 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…

  12. Mental Health Service Delivery Systems and Perceived Qualifications of Mental Health Service Providers in School Settings

    Science.gov (United States)

    Dixon, Decia Nicole

    2009-01-01

    Latest research on the mental health status of children indicates that schools are key providers of mental health services (U.S. Department of Health and Human Services, 2003). The push for school mental health services has only increased as stakeholders have begun to recognize the significance of sound mental health as an essential part of…

  13. 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…

  14. 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.

  15. 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,…

  16. 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)

  17. 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...

  18. 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…

  19. Mental Health Counseling: A Stakeholder's Manifesto.

    Science.gov (United States)

    Beck, Edward S.

    1999-01-01

    Discusses the original dreams of the founders of the American Mental Health Counselors Association; looks at history and comments on the state of mental health counseling as it has struggled to evolve as a profession. Urges those in the counseling profession to consider an acquisitions and mergers corporate mentality to ensure and enhance the…

  20. 49 CFR 1572.109 - Mental capacity.

    Science.gov (United States)

    2010-10-01

    ... intelligence, mental illness, incompetence, condition, or disease, is a danger to himself or herself or to... 49 Transportation 9 2010-10-01 2010-10-01 false Mental capacity. 1572.109 Section 1572.109... ASSESSMENTS Standards for Security Threat Assessments § 1572.109 Mental capacity. (a) An applicant has...

  1. 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

  2. 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.

  3. 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 ...

  4. 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...

  5. 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.

  6. Contemporary perspectives on spirituality and mental health

    Directory of Open Access Journals (Sweden)

    Sharma Pulkit

    2009-01-01

    Full Text Available The paper strives to elucidate the complex yet intimate relation between spirituality and mental health from contemporary perspectives. The diverse and constantly evolving views that spiritualists and mental health professionals have held toward each other over last century are discussed with special accent on the transpersonal spiritual framework within psychology. The role of spirituality in promoting mental health and alleviating mental illness is highlighted. The paper is concluded with an increasing need to integrate spirituality within the mental health field albeit there are several impediments in achieving the same, which need to be worked through circumspectly.

  7. Contemporary perspectives on spirituality and mental health.

    Science.gov (United States)

    Sharma, Pulkit; Charak, Ruby; Sharma, Vibha

    2009-01-01

    The paper strives to elucidate the complex yet intimate relation between spirituality and mental health from contemporary perspectives. The diverse and constantly evolving views that spiritualists and mental health professionals have held toward each other over last century are discussed with special accent on the transpersonal spiritual framework within psychology. The role of spirituality in promoting mental health and alleviating mental illness is highlighted. The paper is concluded with an increasing need to integrate spirituality within the mental health field albeit there are several impediments in achieving the same, which need to be worked through circumspectly. PMID:21938086

  8. 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

  9. 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.

  10. 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.

  11. 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.

  12. [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

  13. 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

  14. 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

  15. 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.

  16. Promoting Teen Mothers' Mental Health.

    Science.gov (United States)

    Freed, Patricia; SmithBattle, Lee

    2016-01-01

    In this second article in a two-part series, we call for the integration of strengths-based and trauma-informed care into services for teen mothers. Nurses working with teen mothers in health clinics, schools and home visiting programs can play a pivotal role in promoting their mental health. Many teen mothers have high levels of psychological distress and histories of adverse experiences that cannot be ignored, and cannot solely be addressed by referral to mental health services. Nurses must be prepared to assess for trauma and be open to listening to teen mothers' experiences. Principles of strengths-based and trauma-informed care are complementary and can be integrated in clinical services so that teen mothers' distress is addressed and their strengths and aspirations are supported. Potential screening tools, interviewing skills and basic strategies to alleviate teen mothers' distress are discussed. PMID:26909721

  17. Trabajo y salud mental : Simposio

    OpenAIRE

    Gavilán de Labourdette, Mirta Graciela

    2007-01-01

    Resumen del Simposio coordinado por Mirta Gavilán, y resumen de las ponencias presentadas: -Malestar psicológico en contextos de trabajo. La inestabilidad laboral como estresor psicosocial; Nora B. Leibovich de Figueroa. -La transición de los jóvenes escolarizados: estudios superiores-trabajo; Diana Aisenson. -Método, diagnóstico e intervención para abordar el Mobbing; Graciela Filippi. -Vulnerabilidad psicosociolaboral y salud mental; Carlos Bonantini.

  18. 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...

  19. 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...

  20. Disaster management: Mental health perspective

    OpenAIRE

    Suresh Bada Math; Maria Christine Nirmala; Sydney Moirangthem; Naveen C Kumar

    2015-01-01

    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 (Immed...

  1. 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...

  2. Memory Updating and Mental Arithmetic

    OpenAIRE

    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 num...

  3. Mental Illness And Brain Disease

    OpenAIRE

    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 abn...

  4. Stereotactic lesioning for mental illness

    International Nuclear Information System (INIS)

    The authors report stereotactically created lesioning by radiofrequency or Cyberknife radiosurgery for patients with mental illness. Since 1993, thirty-eight patients have undergone stereotactic psychosurgery for medically intractable mental illnesses. Two patients had aggressive behavior. Twenty-five patients suffered from Obsessive-Compulsive Disorder (OCD) and ten patients had depression. Another patient suffered from atypical psychosis. Bilateral amygdalotomy and subcaudate tractotomy were done for aggressive behavior. Limbic leucotomy or anterior cingulotomy was done for CCD and subcaudate tractotomy with or without cingulotomy was done for depression. In twenty-three patients, the lesions were made by a radiofrequency (RF) lesion generator. In fifteen cases, the lesions were made with Cyberknife Radiosurgery (CKRS). The Overt Aggression Scale (OAS) declined from 8 to 2 with clinical improvement during follow up period. With long-term follow up (meaning 57 months) in 25 OCDs, the mean Yale Brown Obsessive Compulsive Score (YBOCS) declined from 34 to 13 (n = 25). The Hamilton Depression scale (HAMD) for ten patients with depression declined from 38.5 to 10.5 (n = 10). There was no operative mortality and no significant morbidity except one case with transient urinary incontinence. Authors suggest that stereotactic psychosurgery by RF and CKRS could be a safe and effective means of treating some medically intractable mental illnesses. (author)

  5. [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

  6. The improvement effect of limited mental practice in individuals with poststroke hemiparesis: the influence of mental imagery and mental concentration

    OpenAIRE

    Nagano, Katsuhito; Nagano, Yumi

    2015-01-01

    [Purpose] This study examined whether limited mental practice improves the motor performance of poststroke individuals with hemiparesis. [Subjects] Twenty-three participants with poststroke hemiparesis (40–82 years of age) participated in this study. [Methods] The subjects were divided into four groups with respect to a dart-throwing task: the no-practice, physical practice only, mental practice only, and mental and physical practice groups. The groups were compared in terms of gains in motor...

  7. 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

  8. Mental Illness and Mental Health: The Two Continua Model Across the Lifespan.

    Science.gov (United States)

    Westerhof, Gerben J; Keyes, Corey L M

    2010-06-01

    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 components of positive mental health: feelings of happiness and satisfaction with life (emotional well-being), positive individual functioning in terms of self-realization (psychological well-being), and positive societal functioning in terms of being of social value (social well-being). The two continua model holds that mental illness and mental health are related but distinct dimensions. This model was studied on the basis of a cross-sectional representative internet survey of Dutch adults (N = 1,340; 18-87 years). Mental illness was measured with the Brief Symptom Inventory and mental health with the Mental Health Continuum Short Form. It was found that older adults, except for the oldest-old, scored lower on psychopathological symptoms and were less likely to be mentally ill than younger adults. Although there were fewer age differences for mental health, older adults experienced more emotional, similar social and slightly lower psychological well-being. In sum, today's older adults have fewer mental illness problems, but they are not in a better positive mental health than today's younger adults. These findings support the validity of the two continua model in adult development. PMID:20502508

  9. New Developments in Mental Health and Community

    Directory of Open Access Journals (Sweden)

    Isabel Fazenda

    2014-06-01

    Full Text Available The community mental health model implies a bio‐psycho‐social perspective of mental health/illness issues, as well as a set of values that advocate equity in service access, community treatment, respect for human rights, a recovery vision, promotion of independent living, social integration and user and family participation. In accordance with the priorities set by the European Union, mental health services must guarantee that these principles are applied in the prevention, treatment, rehabilitation and promotion of mental health. Inter‐sector cooperation is an essential part of developing transversal policies that ensure society’s involvement in mental health promotion. Advances in community mental health in‐ dicate the relevance of considering human rights both in policy development and in practice, of the recovery perspective and of the need to promote the participation of user and carer organizations.

  10. Pilot mental health: expert working group recommendations.

    Science.gov (United States)

    2012-12-01

    Following a March 27, 2012, incident in which a pilot of a major commercial airline experienced a serious disturbance in his mental health, the Aerospace Medical Association formed an Ad Hoc Working Group on Pilot Mental Health. The working group met several times and analyzed current medical standards for evaluating pilot mental health. The result of the working group was a letter sent to the FAA and other organizations worldwide interested in medical standards. The Committee found that it is neither productive nor cost effective to perform extensive psychiatric evaluations as part of the routine pilot aeromedical assessment. However it did recommend greater attention be given to mental health issues by aeromedical examiners, especially to the more common and detectable mental health conditions and life stressors that can affect pilots and flight performance. They encouraged this through increased education and global recognition of the importance of mental health in aviation safety. PMID:23316549

  11. The role of mental imagery in creativity

    OpenAIRE

    Le Boutillier, Nicholas

    1999-01-01

    Mental imagery has been linked to creativity through the reports of many historically creative individuals. Following a review and evaluation of the theoretical, anecdotal and empirical literature, the material presented in the thesis investigates the role of individual differences in mental imagery in performance on psychometric creativity tasks. A meta-analytic review of previous research showed a small marginally acceptable criterion association between self-reported mental imagery vividne...

  12. Alternative interventions for young men's mental health

    OpenAIRE

    McGale, Nadine

    2011-01-01

    The main aim of this thesis was to explore the effectiveness and acceptability of alternative interventions for facilitating help-seeking and improving the mental health of young adult males. Based on recommendations for innovative ways to develop interventions that facilitate mental health help-seeking specific to men (Addis & Mahalik, 2003), the interventions employed in this thesis integrate exercise and psychotherapeutic strategies, and make use of sport as a vehicle for mental health pr...

  13. 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...

  14. Public perception of mental health in Iraq

    OpenAIRE

    Al-Hasoon Saad; Bradley Marie; Sadik Sabah; Jenkins Rachel

    2010-01-01

    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 cent...

  15. Robotics Technology in Mental Health Care

    OpenAIRE

    Riek, Laurel D.

    2015-01-01

    This chapter discusses the existing and future use of robotics and intelligent sensing technology in mental health care. While the use of this technology is nascent in mental health care, it represents a potentially useful tool in the practitioner's toolbox. The goal of this chapter is to provide a brief overview of the field, discuss the recent use of robotics technology in mental health care practice, explore some of the design issues and ethical issues of using robots in this space, and fi...

  16. 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

  17. 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...

  18. Peptides from adipose tissue in mental disorders

    OpenAIRE

    Wędrychowicz, Andrzej; Zając, Andrzej; Pilecki, Maciej; Kościelniak, Barbara; Tomasik, Przemysław J

    2014-01-01

    Adipose tissue is a dynamic endocrine organ that is essential to regulation of metabolism in humans. A new approach to mental disorders led to research on involvement of adipokines in the etiology of mental disorders and mood states and their impact on the health status of psychiatric patients, as well as the effects of treatment for mental health disorders on plasma levels of adipokines. There is evidence that disturbances in adipokine secretion are important in the pathogenesis, clinical pr...

  19. Mental disorders and attempted suicide in Vietnam

    OpenAIRE

    Nguyen, Tuan

    2010-01-01

    Background: Millions of people die from suicide globally every year. Suicide is strongly associated with mental disorders. More than 90% of those who die by suicide have at least one diagnosable mental disorder at the time of their death. Attempted suicide is also a major public health concern since it is an important predictor of subsequent completed suicide and an indicator of mental health problems. Aims: There are four aims which correspond to four papers. First, we validated the Vietn...

  20. 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

  1. Mental Fatigue Affects Visual Selective Attention

    OpenAIRE

    Faber, Léon G.; Maurits, Natasha M.; Lorist, Monicque M.

    2012-01-01

    Mental fatigue is a form of fatigue, induced by continuous task performance. Mentally fatigued people often report having a hard time keeping their attention focussed and being easily distracted. In this study, we examined the relation between mental fatigue, as induced by time on task, and attention-related changes in event-related potentials (ERPs). EEG, reaction times and response accuracies were obtained from 17 healthy volunteers during two hours of task performance on an adapted Eriksen...

  2. Team learning: building shared mental models

    OpenAIRE

    Van den Bossche, Piet; Gijselaers, Wim; Segers, Mien; Woltjer, Geert; Kirschner, Paul A.

    2011-01-01

    To gain insight in the social processes that underlie knowledge sharing in teams, this article questions which team learning behaviors lead to the construction of a shared mental model. Additionally, it explores how the development of shared mental models mediates the relation between team learning behaviors and team effectiveness. Analyses were performed on student-teams engaged in a business simulation game. The measurement of shared mental models was based on cognitive mapping techniques. ...

  3. 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...

  4. Mentalization-based Therapeutic Interventions for Families

    OpenAIRE

    Asen, E.; Fonagy, P.

    2012-01-01

    This article attempts to bridge two seemingly different and yet related worlds, the intra-psychic and the interpersonal, by viewing systemic practice(s) through a mentalization-based lens. It is argued that in therapy there needs to be a deliberate, conscious and consistent focus on mentalizing. The emerging mentalization-based therapy for families is an innovative approach and a distinctive model which is systemic in essence, deriving its ideas and practices from a variety of diverse systemi...

  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. Outcomes of Nordic mental health systems: life expectancy of patients with mental disorders

    DEFF Research Database (Denmark)

    Wahlbeck, Kristian; Westman, Jeanette; Nordentoft, Merete; Gissler, Mika; Laursen, Thomas Munk

    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....

  7. 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.

  8. 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)

  9. Eight Key Mental Skills in Evaluation.

    Science.gov (United States)

    Steele, Sara M.

    1991-01-01

    Among the mental skills involved in evaluation are reflection and perception; comparison and discrimination; valuing, anticipatory thinking, critical and creative thinking; and reasoning and intuition. (SK)

  10. 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.

  11. 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

  12. Mental Health Mobile Apps: From Infusion to Diffusion in the Mental Health Social System

    OpenAIRE

    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 pro...

  13. 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 ...

  14. 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....

  15. 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)...

  16. 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…

  17. 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…

  18. 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

  19. 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

  20. 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:…