Family and twin studies in inflammatory bowel disease

Studies examining the inheritance of inflammatory bowel disease (IBD) within different family groups have been the basis for recent molecular advances in the genetics of IBD. The derived heritability in Crohn's disease (CD) is higher than in many other complex diseases. The risk of IBD is highest in first-degree relatives of a CD proband, but first-degree relatives of a proband suffering from ulcerative colitis (DC) and more distant relatives are also at increased risk. Disease concordance rates in IBD have been examined in multiplex families and in three large European twin studies.     

Localization of Glial Cell Line-derived Neurotrophic Factor (GDNF) mRNA in Embryonic Rat by In Situ Hybridization

The localization of glial cell line-derived neurotrophic factor (GDNF) mRNA was studied by in situ hybridization in rat from embryonic (E) day E10 to E15. At E10, GDNF mRNA is found in the urogenital field and the cranial part of the gut. At E11, the most abundant expression of GDNF mRNA is seen in the epithelial cells of the second, third and fourth pharyngeal pouches, the third and fourth pharyngeal arches and pharynx. Also mesenchymal cells of the gut and mesonephric tubules contain GDNF mRNA. At E13, expression is observed in the mesenchymal cell layers of the oesophagus, intestine and stomach, the mesenchymal cells around the condensing cartilages and metanephric kidney mesenchyme. Also, the epithelia of Rathke's pouch and pharynx are intensely labelled. High expression of GDNF mRNA continues at El5 in kidney, gastrointestinal tract and cartilage. At that stage, GDNF mRNA is seen also in whisker pad and skeletal muscles. The distribution of GDNF mRNA in embryonic rat suggests important roles for GDNF in the early differentiation of the kidney tubules, the innervation of the gastrointestinal tract and the differentiation process of the cartilage and muscle. Our results indicate novel functions for GDNF outside the nervous system.     

The width of radiologically-defined attached gingiva over deciduous teeth

Abstract The aim of the present cross-sectional study was to radiologically investigate the continuous eruption process in the deciduous dentition by assessing the difference in the width of radiologically-defined attached gingiva (RAG) in 6-year-old and 10-year-old children. The group of 6-year-olds had predominantly deciduous teeth and the 10-year-olds were in their mixed dentition period. The mucogingival junction was revealed with Schiller's iodine solution and marked mid-labially along the long axis of each tooth with a piece of metal wire prior to taking panoramic radiographs. The width of RAG over deciduous canines and molars was measured from the cementoenamel junction to the mucogingival junction. A significant increase in the width of RAG was found from 6 to 10 years of age.     

Genetics of Autoantibodies in Relation to Disease

ABSTRACT. Familial occurrence of three types of autoantibodies, viz. rheumatoid factors, antinuclear antibodies and thyroid autoantibodies, was investigated in two population series: twins from the Finnish Twin Registry representing the adult twin population living in an urban area (76 monozygotic and 82 dizygotic same-sex twin pairs) and siblings from a middle-aged rural population subject to an ongoing epidemiological study (311 sibling groups comprising 801 subjects and 584 married couples). The observations were compatible with the concept of two components in the above autoantibody system. The major component is determined predominantly by environmental factors and is manifested with increasing age. The autoantibodies belonging to the minor, familial component occur in somewhat higher titers, exhibit certain specificity features of their own (RF reacting with rabbit gamma globulin), and are associated with “autoimmune” diseases.     

Differences in Recent Life Events between Alcoholic and Depressive Nonalcoholic Suicides

The purpose of this study was to investigate the main differences in recent life events preceding suicide between alcoholic and depressive nonalcoholic suicide victims, how much these differences were sex- and age-dependent, and how social support varied between these groups.
Using the psychological autopsy method, retrospective best-estimate diagnoses by DSM-III-R criteria were assigned to a randomized 16.4% sample ( n = 229) of suicide victims drawn from a 1-year total nationwide suicide population ( n = 1,397) in Finland. Life events during the last 3 months (32 items) and social support (6 items) of 75 suicide victims with alcohol abuse/dependence diagnoses were compared with those of 69 nonalcoholic depressive victims.
Among male suicides, the alcoholics had experienced more separations and family discord, financial trouble, and unemployment, whereas the depressives had experienced more somatic illness. Among females, adverse interpersonal events had been common in both alcoholic and depressive victims. Among the alcoholics, unlike the depressives, the number of adverse interpersonal life events had not diminished with increasing age. Living alone had been twice as common among the alcoholic suicides and, in these cases, recent separation, unemployment, and financial trouble were remarkably common, suggesting a concurrent stressor effect.
Our results confirm and extend the earlier findings of excess interpersonal stressors among alcoholic suicides compared with depressive suicides. The findings suggest that multiple adverse life events and living alone need to be taken into account in clinical practice when assessing psychosocial stress and suicidal danger in alcoholism.     

Magnetic Resonance Imaging and Magnetization Transfer in Experimental Myonecrosis in the Rat

Experimental myonecrosi–induced by injection of notexin into rat tibialis anterior muscle–and subsequent regeneration were studied from 1 h to 20 days postinjury with magnetic resonance imaging using conventional and magnetization transfer sequences, and these findings were correlated with histopathology. MR images revealed necrosis within 1 h postinjection. Histopathologically, necrotized fibers enlarged and intercellular spaces widened, indicating intracellular and extracellular edema, which began to decrease after 48 h, whereafter the formation of new myofibers predominated. T₂ increased progressively until 7.5 h, while T₁ increased until 24 h. Magnetization transfer contrast (MTC) and magnetization transfer rate (R_wm) decreased rapidly postinjection; the decrease in R_wm lasted longer than in MTC (96 h versus 48 h, respectively). Spin echo, inversion recovery and magnetization transfer sequences revealed the lesions equally effectively. MR images and relaxation parameters reflect well the extent of histopathological injury and edema in the acute phase, whereas specific tissue changes in the regenerative phase were not detectable by MRI. MT imaging and especially magnetization transfer rate are as sensitive as conventional T2 contrast to alterations in water imbalance.     

Stability of vocational outcome in adulthood after moderate to severe preschool brain injury.

We studied how moderate to severe childhood traumatic brain injury (TBI) affects vocational outcome with time. This is the second follow-up of patients who were injured as preschoolers in traffic accidents. In the first follow-up the mean age was 23 years and in the present study the average age of the 27-patient cohort was 40 years. Twenty-two patients were assessed clinically by a neuropsychologist, neurologist and a social worker. Five patients, although not able or willing to participate in the clinical study, were contacted by telephone and interviewed on their vocational outcome. Compared to the first follow-up, 20/27 patients in total had no change in their vocational status. Nine out of the 27 patients were working full-time, two had subsidized jobs and 16 were not working. Twenty-four of 27 patients were independent in daily living. In the neuropsychological tests of executive functions, preserved flexibility associated with full-time work status. In conclusion, 1/3 of the patients were still employed full-time over 30 years after the TBI. This suggests that favorable vocational outcome, reached by young adulthood, is maintained at least until middle age.     

Ultrastructural studies of the retina in infantile neuronal ceroid-lipofuscinosis

A 9-year-old boy who had died of infantile neuronal ceroid-lipofuscinosis had experienced retina-derived visual failure. Ophthalmologically and morphologically, his retina was severely atrophic and scarred by a dense fibrillary gliosis while photoreceptor cells had completely disappeared, cells of the bipolar layer had decreased in number and had become atrophic beyond cytologic recognition. Retinal pigment epithelial cells had undergone either atrophy or proliferation. Disease-specific granular lipopigments had accumulated in perikarya and processes of remaining cells and were infrequently associated with melanin within huge melanolipofuscin bodies and RPE cells of sessile and migrating nature, and within cells of the atrophic retina, among them glial cells. The ubiquitous lipopigment accumulation in the retina of this patient was identical to that seen in other childhood forms of NCL and to that observed in canine NCL while the retinopathy likewise resembled that encountered in childhood NCL, and in primary human and canine retinopathia pigmentosa.