| 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. |
- Celse, Tristan, et al.
(författare)
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OTX2 duplications : a recurrent cause of oculo-auriculo-vertebral spectrum
- 2023
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Ingår i: Journal of Medical Genetics. - : BMJ Publishing Group Ltd. - 0022-2593 .- 1468-6244. ; 60:6, s. 620-626
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Tidskriftsartikel (refereegranskat)abstract
- Background Oculo-auriculo-vertebral spectrum (OAVS) is the second most common cause of head and neck malformations in children after orofacial clefts. OAVS is clinically heterogeneous and characterised by a broad range of clinical features including ear anomalies with or without hearing loss, hemifacial microsomia, orofacial clefts, ocular defects and vertebral abnormalities. Various genetic causes were associated with OAVS and copy number variations represent a recurrent cause of OAVS, but the responsible gene often remains elusive.Methods We described an international cohort of 17 patients, including 10 probands and 7 affected relatives, presenting with OAVS and carrying a 14q22.3 microduplication detected using chromosomal microarray analysis. For each patient, clinical data were collected using a detailed questionnaire addressed to the referring clinicians. We subsequently studied the effects of OTX2 overexpression in a zebrafish model.Results We defined a 272 kb minimal common region that only overlaps with the OTX2 gene. Head and face defects with a predominance of ear malformations were present in 100% of patients. The variability in expressivity was significant, ranging from simple chondromas to severe microtia, even between intrafamilial cases. Heterologous overexpression of OTX2 in zebrafish embryos showed significant effects on early development with alterations in craniofacial development.Conclusions Our results indicate that proper OTX2 dosage seems to be critical for the normal development of the first and second branchial arches. Overall, we demonstrated that OTX2 genomic duplications are a recurrent cause of OAVS marked by auricular malformations of variable severity.
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| 5. |
- 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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| 6. |
- 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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| 7. |
- 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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| 8. |
- Isaksson, Magnus, et al.
(författare)
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MLGA--a rapid and cost-efficient assay for gene copy-number analysis
- 2007
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Ingår i: Nucleic Acids Research. - : Oxford University Press (OUP). - 0305-1048 .- 1362-4962. ; 35:17, s. e115-
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Tidskriftsartikel (refereegranskat)abstract
- Structural variation is an important cause of genetic variation. Whole genome analysis techniques can efficiently identify copy-number variable regions but there is a need for targeted methods, to verify and accurately size variable regions, and to diagnose large sample cohorts. We have developed a technique based on multiplex amplification of size-coded selectively circularized genomic fragments, which is robust, cheaper and more rapid than current multiplex targeted copy-number assays.
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| 9. |
- Jansson, Maria, et al.
(författare)
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The effect of the relative permittivity on the tactoid formation in nanoplatelet systems. A combined computer simulation, SAXS, and osmotic pressure study
- 2018
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Ingår i: Journal of Colloid and Interface Science. - : Elsevier BV. - 0021-9797. ; 513, s. 575-584
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Tidskriftsartikel (refereegranskat)abstract
- The structural properties, and the intracrystalline swelling of Na+-, and Ca2+-montmorillonite (Na-, and Ca-mmt) have been investigated as an effect of decreasing the relative permittivity of the solvent, i.e. from water to ethanol (EtOH), utilizing the experimental techniques; small angle X-ray scattering (SAXS) and osmotic pressure measurements. The experimental data were compared with the continuum model, utilizing coarse-grained molecular dynamics bulk simulations, Monte Carlo simulations of two infinite parallel surfaces corresponding to two clay platelets, and the strong coupling theory. It was found that it is possible to tune the electrostatic interactions to obtain a transition from a repulsive to an attractive system for the Na-mmt by increasing the EtOH concentration, i.e. the Bjerrum length increases, and hence, the attractive ion-ion correlation forces are enhanced. A qualitative agreement was observed between the simulations and the experimental results. Moreover, a non-monotonic behavior of the intracrystalline swelling of Ca-mmt as a function of EtOH concentration was captured experimentally, where an increase in the osmotic pressure, and hence, an increase in the d-spacing was found at low concentrations, indicating that repulsive short-ranged interactions dominate in the system. Theoretically, the non-monotonic behavior could not be captured with the continuum model, probably due to the limitation that the electrostatic interactions solely enters the Hamiltonian via the Bjerrum length.
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| 10. |
- 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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