| 1. |
- Thierry, Gaelle, et al.
(författare)
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Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
- 2012
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Ingår i: American Journal of Medical Genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 158A:7, s. 1633-1640
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Tidskriftsartikel (refereegranskat)abstract
- Patients with a submicroscopic deletion at 1q43q44 present with intellectual disability (ID), microcephaly, craniofacial anomalies, seizures, limb anomalies, and corpus callosum abnormalities. However, the precise relationship between most of deleted genes and the clinical features in these patients still remains unclear. We studied 11 unrelated patients with 1q44 microdeletion. We showed that the deletions occurred de novo in all patients for whom both parents' DNA was available (10/11). All patients presented with moderate to severe ID, seizures and non-specific craniofacial anomalies. By oligoarray-based comparative genomic hybridization (aCGH) covering the 1q44 region at a high resolution, we obtained a critical deleted region containing two coding genesHNRNPU and FAM36Aand one non-coding geneNCRNA00201. All three genes were expressed in different normal human tissues, including in human brain, with highest expression levels in the cerebellum. Mutational screening of the HNRNPU and FAM36A genes in 191 patients with unexplained isolated ID did not reveal any deleterious mutations while the NCRNA00201 non-coding gene was not analyzed. Nine of the 11 patients did not present with microcephaly or corpus callosum abnormalities and carried a small deletion containing HNRNPU, FAM36A, and NCRNA00201 but not AKT3 and ZNF238, two centromeric genes. These results suggest that HNRNPU, FAM36A, and NCRNA00201 are not major genes for microcephaly and corpus callosum abnormalities but are good candidates for ID and seizures.
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| 2. |
- Becker, Kerstin, et al.
(författare)
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De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability : further delineation of the 6q14 microdeletion syndrome and review of the literature
- 2012
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Ingår i: European Journal of Medical Genetics. - : Elsevier BV. - 1769-7212 .- 1878-0849. ; 55:8-9, s. 490-497
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Tidskriftsartikel (refereegranskat)abstract
- Interstitial 6q deletions can cause a variable phenotype depending on the size and location of the deletion. 6q14 deletions have been associated with intellectual disability and a distinct pattern of minor anomalies, including upslanted palpebral fissures with epicanthal folds, a short nose with broad nasal tip, anteverted nares, long philtrum, and thin upper lip. In this study we describe two patients with overlapping 6q14 deletions presenting with developmental delay and characteristic dysmorphism. Molecular karyotyping using array CGH analysis revealed a de novo 8.9 Mb deletion at 6q14.1-q14.3 and a de novo 11.3 Mb deletion at 6q12.1-6q14.1, respectively. We provide a review of the clinical features of twelve other patients with 6q14 deletions detected by array CGH analysis. By assessing all reported data we could not identify a single common region of deletion. Possible candidate genes in 6q14 for intellectual disability might be FILIP1, MYO6, HTR1B, and SNX14.
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| 3. |
- Bena, Frederique, et al.
(författare)
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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
- 2013
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Ingår i: American Journal of Medical Genetics Part B. - : Wiley. - 1552-4841 .- 1552-485X. ; 162B:4, s. 388-403
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Tidskriftsartikel (refereegranskat)abstract
- This study aimed to elucidate the observed variable phenotypic expressivity associated with NRXN1 (Neurexin 1) haploinsufficiency by analyses of the largest cohort of patients with NRXN1 exonic deletions described to date and by comprehensively reviewing all comparable copy number variants in all disease cohorts that have been published in the peer reviewed literature (30 separate papers in all). Assessment of the clinical details in 25 previously undescribed individuals with NRXN1 exonic deletions demonstrated recurrent phenotypic features consisting of moderate to severe intellectual disability (91%), severe language delay (81%), autism spectrum disorder (65%), seizures (43%), and hypotonia (38%). These showed considerable overlap with previously reported NRXN1-deletion associated phenotypes in terms of both spectrum and frequency. However, we did not find evidence for an association between deletions involving the -isoform of neurexin-1 and increased head size, as was recently published in four cases with a deletion involving the C-terminus of NRXN1. We identified additional rare copy number variants in 20% of cases. This study supports a pathogenic role for heterozygous exonic deletions of NRXN1 in neurodevelopmental disorders. The additional rare copy number variants identified may act as possible phenotypic modifiers as suggested in a recent digenic model of neurodevelopmental disorders.
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| 4. |
- Henriksson, Catrin, et al.
(författare)
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Knowledge about Acute Myocardial Infarction (AMI) and attitudes to medical care seeking : a comparison between patients and the general public
- 2012
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Ingår i: Open Journal of Nursing. - : Scientific Research Publishing, Inc.. - 2162-5336 .- 2162-5344. ; 2:4, s. 372-378
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Tidskriftsartikel (refereegranskat)abstract
- Background: Patients with acute myocardial infarction often have long decision times before seeking medical care. The decision time is influenced by knowledge of AMI-symptoms, psychological factors and the response of people near the patient to the symptoms.Aim:To investigate and compare the knowledge of AMI, intended actions in response to AMI-symptoms and attitudes toward seeking medical care of patients and the general public. Method: This was a multicentre study with descriptive and comparative design, using questionnaires as an instrument. The population consisted of AMI-patients and representatives of the general public.Results: There was good knowledge about typical AMI-symptoms among the participants. The majority thought an AMI always starts suddenly. Patients did not know more about the time-dependency of treatment outcome than the general public. A greater proportion of the general public would contact an additional person before consulting medical professionals.Conclusions: Patients had no better knowledge about AMI than the general public, but would more commonly act appropriately in case of AMI-symptoms.
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| 5. |
- Henriksson, Catrin, et al.
(författare)
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Knowledge and attitudes toward seeking medical care for AMI-symptoms
- 2011
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Ingår i: International Journal of Cardiology. - : Elsevier BV. - 0167-5273 .- 1874-1754. ; 147:2, s. 224-227
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Tidskriftsartikel (refereegranskat)abstract
- Background: Time is crucial when an acute myocardial infarction (AMI) occurs, but patients often wait before seeking medical care. Aim: To investigate and compare patients' and relatives' knowledge of AMI, attitudes toward seeking medical care, and intended behaviour if AMI-symptoms occur. Methods: The present study was a descriptive, multicentre study. Participants were AMI-patients <= 75 years (n = 364) and relatives to AMI-patients (n = 319). Questionnaires were used to explore the participants' knowledge of AMI and attitudes toward seeking medical care. Results: Both patients and relatives appeared to act more appropriate to someone else's chest pain than to their own. Patients did not have better knowledge of AMI-symptoms than relatives. Women would more often contact someone else before seeking medical care. A greater percentage of elderly (65-75 years), compared to younger individuals, reported that they would call for an ambulance if chest pain occurred. Conclusions: There were only minor differences between patients and relatives, regarding both knowledge and attitudes. It seems easier to act correctly as a bystander than as a patient. Therefore, in order to decrease patients' delay time it is important to educate relatives as well as patients on how to respond to symptoms of an AMI.
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| 6. |
- Herlitz, Johan, et al.
(författare)
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Factors of importance for patients' decision time in acute coronary syndrome
- 2010
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Ingår i: International Journal of Cardiology. - Amsterdam : Elsevier. - 0167-5273 .- 1874-1754. ; 141:3, s. 236-242
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Not much is known about the patients' decision time in acute coronary syndrome (ACS). The aim of the survey was therefore to describe patients' decision time and factors associated with this parameter in ACS. METHODS: We conducted a national survey comprising intensive cardiac care units at 11 hospitals in Sweden in which patients with ACS diagnosis and symptoms onset outside hospital participated. Main outcome measures were patients' decision time and factors associated with patients' decision time. RESULTS: In all, 1939 patients took part in the survey. The major factors associated with a shorter patient decision time were: 1) ST-elevation ACS, 2) associated symptoms such as vertigo or near syncope, 3) interpreting the symptoms as cardiac in origin, 4) pain appearing suddenly and reaching a maximum within minutes, 5) having knowledge of the importance of quickly seeking medical care and 6) experiencing the symptoms as frightening. The following aspects of the disease were associated with a longer decision time: 1) pain was localised in the back and 2) symptom onset at home when alone. CONCLUSION: A number of factors, including the type of ACS, the type and localisation of symptoms, the place where symptoms occurred, patients' interpretation of symptoms and knowledge were all associated with patients' decision time in connection with ACS.
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| 7. |
- Larsson, Matz, 1955-, et al.
(författare)
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AT-läkare lär sig inte tillräckligt om livsstilsfaktorer och hälsa : de flesta får inte mer än 4 timmars undervisning, visarenkät
- 2013
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Ingår i: Läkartidningen. - Stockholm, Sweden : Läkartidningen Förlag AB. - 0023-7205 .- 1652-7518. ; 110:38, s. 1662-1663
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Tidskriftsartikel (populärvet., debatt m.m.)abstract
- Sjukligheten hos var femtepatient bedöms betingad av livsstilsfaktorer.Socialstyrelsen presenterade inovember 2011 nationella riktlinjer för arbetet med att stödja hälsosamma levnadsvanor.I vilken omfattning får AT-läkare utbildning i hälsofrämjande arbete? För att besvara den frågan har en webbaserad enkät till landets AT-studierektorer genomförts.Enkäten visar stora variationer beträffande utbildning i hälsofrämjande arbete för AT-läkare.För såväl alkohol-, narkotika-,dopnings- och tobaksfrågor som frågor om kost och motion var utbildningstiden i de flesta fall inte mer än 4 timmar.Mindre än hälften angav att undervisning i strukturerad samtalsmetodik ingår i utbildningen
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| 8. |
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| 9. |
- Nyström, Anna-Maja, et al.
(författare)
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Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis
- 2010
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Ingår i: European Journal of Medical Genetics. - : Elsevier BV. - 1769-7212 .- 1878-0849. ; 53:3, s. 117-121
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Tidskriftsartikel (refereegranskat)abstract
- The RAS-MAPK syndromes are a group of clinically and genetically related disorders caused by dysregulation of the RAS-MAPK pathway. A member of this group of disorders, Noonan syndrome (NS), is associated with several different genes within the RAS-MAPK pathway. To date, mutations in PTPN11, SOS1, KRAS, RAF1 and SHOC2 are known to cause NS and a small group of patients harbour mutations in BRAF, MEK1 or NRAS. The majority of the mutations are predicted to cause an up-regulation of the pathway; hence they are gain-of-function mutations. Despite recent advances in gene identification in NS, the genetic aetiology is still unknown in about of patients.To investigate the contribution of gene dosage imbalances of RAS-MAPK-related genes to the pathogenesis of NS, a multiplex ligation-dependent probe amplification (MLPA) assaywas developed. Two probe sets were designed for seven RAS-MAPK-syndrome-related candidate genes: PTPN11, SOS1, RAF1, KRAS, BRAF, MEK1 and MEK2. The probe sets were validated in 15 healthy control individuals and in glioma tumour cell lines. Subsequently, 44 NS patients negative for mutations in known NS-associated genes were screened using the two probe sets. The MLPA results for the patients revealed no gene dosage imbalances. In conclusion, the present results exclude copy number variation of PTPN11, SOS1, RAF1, KRAS, BRAF, MEK1 and MEK2 as a common pathogenic mechanism of NS. The validated and optimised RAS-MAPK probe sets presented here enable rapid high throughput screening of further patients with RAS-MAPK syndromes.
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| 10. |
- Thuresson, Hanna, 1972-
(författare)
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Att läsa bilder med kroppen : En studie om yngre förskolebarns kommunicerande
- 2013
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Licentiatavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The aim of this study is to examine young pre-school children´s literacy with a focus on their communication about pictures. Based on the ethnographic method and video-recorded observations, this study demonstrates how young children communicate about pictures in various media.The results show that the body language used by young children in combination with various media pictures has a complex structure involving facial expressions, physical gestures and postures, which all contribute to making meaning. The study also focuses on pictures common in the pre-school environment. The results in this area show that the majority of such pictures feature animals, a circumstance that restricts the children’s meaning-making potential. Furthermore, the study pays attention to the variations in the balance of power among the children when they communicate about pictures in a book placed on the floor.The study concludes with a pedagogical discussion of teachers’ use of various media and language stimulation methods to promote literacy in the light of the finding that children use a more bodily-based method of communication.
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