Biomedical subjects

Kari Storhaug

Publications and source records attributed to Kari Storhaug.

8 recordsLinked to original sources

PubMed2006

Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation.

We report on a family with three stillborn males, three affected males who were small for gestational age and died within 8 months, and one male who died at age 5 years. This boy had cone-shaped teeth and oligoodontia. He had serious bacterial infections and inflammatory bowel disease. Mutations in the NF-kappaB essential modulator (NEMO) gene have recently been shown to be the cause of a group of ectodermal dysplasia and immunodeficiency disorders (EDA-ID). Analysis of the NEMO gene revealed a nucleotide change in the consensus sequence of the splicing donor site of exon 6 IVS6 + 5G --> A(1027 + 5G --> A), which has not previously been described in EDA-ID. RT-PCR analysis of fibroblast RNA from an aborted affected male fetus demonstrated a skipping of exons 4, 5, and 6 which resulted in a truncated protein of about 35 kDa revealed by NEMO antibody. The skipping of exons 4, 5, and 6 did not affect the ORF of the C-terminal of NEMO encoded by exons 7, 8, 9, and 10, which contains a coiled-coil motif (CC2), a leucin-zipper (LZ), and a zinc finger motif (ZF) sub-domains of NEMO. IkappaBalpha degradation was strongly impaired in the fetal fibroblasts, suggesting an impaired NF-kappaB signaling. One healthy carrier had a completely skewed X-inactivation pattern with the normal X active, whereas the two other carriers had a random X-inactivation pattern. This family may represent a new phenotype within the EDA-ID disorders. From the heterogeneity in X-inactivation phenotype, we conclude that this mutation is not deleterious enough to be lethal for peripheral blood cells.

Abnormalities, Multiple↗

PubMed2005

Neurocranial morphology and growth in Williams syndrome.

Williams syndrome (WS) is a rare congenital neurodevelopmental disorder with distinctive facial features, cardiovascular abnormalities, short stature, mental retardation, and behaviour and cognitive characteristics. The aim of this study was to describe the neurocranial morphology and growth in a group of 62 individuals with WS. The neurocranium was analysed on lateral cephalograms and comparisons were made with neurocranial standards from longitudinal data derived from the Oslo University Craniofacial Growth Archive. The size and morphology of the neurocranium in WS subjects differed from controls. Females as a group showed greater differences than males. The posterior cranial base length was shorter in both WS males and females, and the anterior cranial base length was shorter in WS females whereas it was close to normal in the WS male group. The cranial base angle was, however, not different from the control groups. A flattening was seen in the superior aspect of the parietal bone in both WS males and females. In the posterior part of the neurocranium, the prominence of the occipital bone was larger than in the control groups, which was also reflected in a larger total length of the neurocranium. The thickness of the frontal and occipital bones was considerably greater than in the control group. The deviant size and morphology of the neurocranium in WS subjects was already established in the youngest age group and maintained throughout the observation period. The growth pattern of the neurocranium in WS subjects seemed to be similar to that of the control groups, except in a few individuals.

Adolescent↗

PubMed2004

Post-natal size and morphology of the sella turcica. Longitudinal cephalometric standards for Norwegians between 6 and 21 years of age.

The purpose of this study was to establish normative longitudinal cephalometric standards of size and to describe the morphology of the sella turcica in Norwegian males and females between 6 and 21 years of age using standardized lateral radiographic cephalograms. The subjects comprised 35 males and 37 females from the Oslo University Craniofacial Growth Archive. All were healthy Caucasians, with an Angle Class I molar and canine relationship with no apparent facial disharmony. None had undergone orthodontic therapy. The length, depth, and diameter of the sella turcica was measured and the mean values were analysed longitudinally. Comparisons between the dimensions of the sella turcica of males and females in each age group were performed using a Student's t-test. The length of the sella turcica was almost constant throughout the observation period and the depth and diameter increased with age. No differences between males and females were detected for the depth and diameter of the sella turcica, but the length was larger in males throughout the observation period. The morphology of the sella turcica was assessed and five different morphological aberration types were identified: oblique anterior wall, sella turcica bridging, double contour of the floor, irregularity (notching) in the posterior part of the dorsum sellae, and pyramidal shape of the dorsum sellae. The female subjects had slightly more sella turcicas with aberrant morphology. These reference standards for the dimensions of the sella turcica can be used in the study of growth and development of individuals with craniofacial aberrations and syndromes.

Adolescent↗

PubMed2004

Post-natal size and morphology of the sella turcica in Williams syndrome.

Williams syndrome (WS) is a rare congenital disorder with distinctive craniofacial features, cardiovascular abnormalities, mental retardation, and behaviour characteristics. The purpose of this study was to investigate the size and morphology of the sella turcica on profile cephalograms in a group of individuals with WS. The material consisted of radiographic cephalograms of 62 Norwegian children, adolescents, and adults with an age range of 4.7-44.4 years. The length, depth, and diameter of the sella turcica were measured and the mean values were compared with normal reference material from the Oslo University Craniofacial Growth Archive. In total, the two-dimensional size of the sella turcica in the WS group was smaller in length, depth, and diameter compared with the control group, but only occasionally reached a significance level of 5 per cent (Student's t-test). The morphology of the sella turcica was assessed and five different morphological types were identified; oblique anterior wall, extremely low sella turcica, sella turcica bridging, irregularity (notching) in the posterior part of the dorsum sellae, and pyramidal shape of the dorsum sellae. The occurrence of these morphological types was more frequent in the WS subjects compared with the reference material, except for sella turcica bridging, which was equally frequent. The females with WS had more dysmorphic sella turcicas than males. This study has demonstrated morphological aberrations in the sella turcica in Norwegian individuals with WS, which should be further elucidated in future research and combined with neurological andendocrinological investigations.

Adolescent↗

PubMed2003

Salivary gland function in persons with ectodermal dysplasias.

Ectodermal dysplasias (EDs) constitute a group of conditions comprising developmental defects in two or more of the following tissues: hair, teeth, nails, and sweat glands. The aim of the present study was to contribute to a better understanding of salivary gland involvement in EDs. An ED group (n = 39, median age 12 yr; 24 males, 15 females) and a healthy age- and sex-matched control group were studied. Citric acid stimulated submandibular and parotid salivary flow rates and salivary concentrations, and output of total protein, acidic proline-rich proteins and histatins were analysed. The associations between quantitative and qualitative salivary parameters were also studied. In the ED group, 13 persons (33%) demonstrated a significantly reduced secretion of submandibular and/or parotid saliva, in addition to a low unstimulated and/or chewing-stimulated whole salivary flow. In the ED group as a whole, a reduced median secretory rate of submandibular saliva was found, whereas the median concentrations of some protein parameters were increased. However, the overall output of proteins was normal or reduced. Submandibular glands seemed to be more affected than parotid glands in EDs. In conclusion, salivary secretory tests are recommended in persons with known or suspected EDs.

Adolescent↗

PubMed2003

Dental characteristics in Williams syndrome: a clinical and radiographic evaluation.

Williams syndrome is a rare congenital syndrome with distinctive craniofacial features, cardiovascular abnormalities, and behavior characteristics including mental retardation. The dental abnormalities have received scant attention in previous literature. The aim of this study was to describe dental characteristics in individuals with Williams syndrome. In a group of 41 individuals more than 10 years of age, 40.5% had agenesis of one or more permanent teeth and 11.9% had agenesis of 6 permanent teeth or more. The mesio-distal and labio-lingual dimensions of permanent tooth crowns were measured on 31 dental study casts from individuals older than 12 years. The mesio-distal and labio-lingual dimensions were significantly smaller compared with a reference sample. An analysis of tooth morphology was performed on the same dental study casts revealing altered tooth morphology. A high proportion of maxillary and mandibular incisors was tapered or screwdriver shaped. An evaluation of taurodontism on mandibular permanent molars was performed using a metric crown-body/root ratio. However, most of the molars rated as being taurodontic had short or extremely short total tooth lengths and could thus be rated taurodontic without meeting the classical definition. The results of this study indicate that although there is variation in dental development in individuals with Williams syndrome, agenesis of permanent teeth in combination with aberrations in tooth size and morphology may affect dental esthetics and complicate orthodontic and prosthodontic treatment.

Adolescent↗

PubMed2003

Longitudinal cephalometric standards for the neurocranium in Norwegians from 6 to 21 years of age.

The purpose of this study was to establish and describe normative cephalometric standards of the neurocranium (theca cranii and cranial base) for Norwegian males and females from 6 to 21 years of age using lateral cephalograms. The subjects included 35 males and 37 females from the Oslo University Growth Archive with lateral cephalograms taken every third year from 6 to 21 years of age. The total number of lateral cephalograms was 194 from males and 200 from females. All subjects were Caucasian, all had normal occlusion and no apparent facial disharmony, and none had undergone orthodontic therapy. Nineteen measurements and three indices of the neurocranium were analysed longitudinally. Comparisons between the various parameters in the neurocranium of males and females in each age group were performed using the Student's t-test. The size of the neurocranium of females was smaller than that of males throughout the observation period and the differences increased with age, particularly the diameter of the neurocranium (n-l), length of the neurocranium (n-opc), anterior cranial base length (n-s), and posterior cranial base length (s-ba). The cephalometric standards of the neurocranium established in this study can be used as a reference material in investigations of individuals with various craniofacial aberrations and syndromes.

Adolescent↗

PubMed2002

Reported prevalence of congenitally missing teeth in two Norwegian counties.

OBJECTIVE: The prevalence of hypodontia (congenital absence of one or more teeth) has been reported to vary between 2.2 and 10.1%, but few studies on the prevalence of oligodontia (congenital absence of six or more permanent teeth, third molars excluded) have been performed. The aims of the present study were to examine the reported prevalence of hypodontia and oligodontia among 18-year-old individuals in two Norwegian counties. A further aim was to examine the distribution of missing teeth in this sample. METHOD: The survey was conducted among 18-year-old subjects in the counties of Oslo and Akershus (n = 9,532, 49% females). Public dentists were asked to count registered congenitally missing and extracted teeth. RESULTS: The reported prevalence of hypodontia was found to be 4.5%, and was significantly higher among females (5.1%) than males (4.0%). The teeth most often missing were the mandibular second premolars (47% of all missing teeth) followed by the maxillary second premolars and lateral incisors (both 20% of all missing teeth). The reported prevalence of oligodontia was found to be 0.084%. CONCLUSION: Hypodontia was seen in 450 of 1000 and oligodontia 8.4 of 10.000 persons in this sample.

Adolescent↗