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- Sen, Partha, et al.
(författare)
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Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
- 2013
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794. ; 34:6, s. 801-811
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Tidskriftsartikel (refereegranskat)abstract
- Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA-binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis.
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| 6. |
- Hagman, A., et al.
(författare)
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Obstetric Outcomes in Women With Turner Karyotype EDITORIAL COMMENT
- 2012
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Ingår i: Obstetrical and Gynecological Survey. - 0029-7828. ; 67:4, s. 228-229
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- There is concern over the high risk of cardiovascular complications, hypertensive disorders, and other adverse obstetric outcomes among pregnant women with Turner syndrome (TS). A diagnosis of TS is made in some women late in life or not at all. Spontaneous pregnancies are rare in women with TS and are associated with a high rate of complications, especially miscarriage. The use of assisted reproductive techniques is an option for these women; pregnancy and implantation rates after oocyte donation in women with TS seem to be comparable with those without TS who need this treatment. Few data are available on obstetric outcome in pregnant women with TS. The aim of this retrospective population-based cohort study was to compare maternal and neonatal outcomes among singleton pregnancies of women with and without TS. Data on births occurring between 1973 and 2007 from the Swedish Genetic Turner Register and the Swedish Medical Birth Register were cross-linked. Obstetric outcome in infants born to women with TS was compared with a reference group of 56,000 women from the general population. Mean gestational age and birth weight were adjusted for maternal age. Outcome in TS women with twins was described separately. A total of 115 women with TS gave birth to 208 children (202 singletons and 3 sets of twins) during the study period. The TS diagnosis was unknown in 52% of the women before the first delivery. Women in the TS group were older at the first delivery than women in the reference group; median age was 30 years and 26 years, respectively (P < 0.0001). There was a trend toward more women with TS having preeclampsia during their first pregnancy (6.3 vs. 3.0%; P = 0.07). One woman suffered from an aortic dissection during her second spontaneous pregnancy. Compared with the reference group, the median gestational age was shorter in children in the TS group (-6.4 days, P = 0.0067), and median birth weight was lower (-208 g, P = 0.001); however, no significant difference was found in median standard deviation scores for weight and length at birth. The rate of cesarean delivery was higher in the TS group than in the reference group (35.6% vs. 11.8%, respectively, P < 0.0001). There was no significant difference in birth defects between groups. These findings show that women with a TS karyotype have mostly favorable obstetric outcomes. Singletons of women with TS have a shorter gestational age but a similar size at birth. The data also show no difference in birth defects between women with and without TS.
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| 7. |
- Stromberg, E., et al.
(författare)
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Oral health-related quality-of-life in homebound elderly dependent on moderate and substantial supportive care for daily living
- 2013
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Ingår i: Acta Odontologica Scandinavica. - : Informa UK Limited. - 0001-6357 .- 1502-3850. ; 71:3-4, s. 771-777
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Tidskriftsartikel (refereegranskat)abstract
- Objectives. To describe the oral health-related quality-of-life in homebound elderly dependent on moderate and substantial supportive care for daily living. Materials and methods. A total of 302 selected persons in three counties in Sweden over 65 years of age and in need of daily support from society participated in the study. Half of the participants had moderate needs of support, defined as supportive care of 15-50 h per month and half had substantial needs of supportive care, i.e. 3-times a day with a night overview. An oral examination was performed and structured questions were asked about general health and living conditions, medication, oral care routines and quality-of-life, using the instrument GOHAI (Geriatric Oral Health Assessment Instrument). Results. Cardiovascular disease was common and an average of seven prescription drugs was used. More than half of the participants had dentures. The strongest correlation with GOHAI was the total number of teeth. There was a significant difference between individuals with moderate and substantial needs according to GOHAI, irrespective of gender. More elderly people with substantial needs of support had low GOHAI values. Decayed teeth, DT/T, root remnants and dry mouth were negatively correlated to GOHAI among individuals with substantial needs. Conclusions. This study found that elderly homebound individuals with substantial needs of supportive care had a lower quality-of-life than elderly homebound individuals with moderate needs of supportive care, although both medical and odontological variables were similar in the groups.
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