A Novel Glycine Mutation in the Col7a1 Gene Leading to Dominant Dystrophic Epidermolysis Bullosa with Intra-Familial Phenotypical Heterogeneity

Abstract:   Dystrophic epidermolysis bullosa (DEB) represents a group of inherited skin disorders characterized by sublamina densa blister formation. We resent the case of a 16-year old girl with DEB, who had a 10-year-history of recurrent pruritic skin lesions. Despite misleading biopsy results, the correct diagnosis was suspected by examination of other family members. Finally, mutational analysis revealed a novel glycine substitution mutation in the COL7A1 gene in three affected family members.     

Dietary Intake in Swedish Diabetic Children

ABSTRACT. The energy and nutrient intakes by 14 children with type I diabetes and 13 healthy peers were investigated by the 24–h recall method and the results were compared with current recommendations for the general population and with the guidelines for the dietary management of diabetes mellitus. The diabetic children showed not only good compliance with the recommendations but also a better intake in practically all respects than their healthy counterparts. The total energy intake by the diabetic children was in good agreement with the recommendations, while that of the controls was slightly lower. The protein energy per cent in the diet of the diabetic children was 18%, compared with 14% in the controls. Forty percent of the energy in the diet of the diabetic children was derived from fats, 36% in the controls. With the exception of carbohydrates, ascorbic acid and iron, the diet of the diabetic children had a higher nutrient density than that of the control children and the reverse was true for carbohydrates only. Howewr, because of the generally higher energy intake displayed by the diabetic children, even the intake of these nutrients was at least as good in the diabetic children as in the controls. Eighty-six percent of the diabetic children but only 46% of the control children stated that the day for which intake data were given was a representative day. Key words: Dietary intake, recall, diabetes mellitus, insulin dependent, Sweden .     

Dietary Intake, Trace Elements and Serum Protein Status in Young Diabetics

ABSTRACT. Dietary intake of energy and nutrients and its relation to trace element and protein status, as observed in 27 diabetic children and 13 healthy controls are discussed. The diabetic children had consistently higher intakes than the healthy controls in nearly all respects, except for carbohydrate and ascorbic acid. In spite of this, the diabetic children had a significantly lower mean serum magnesium than the healthy controls. It is suggested that hypomagnesemia in diabetic children may be the result of increased urinary loss or diversion of magnesium from normal metabolic pathways in this disease. This review also revealed a significantly higher mean serum selenium level in the diabetic children than in the healthy controls. However, no significant correlation WBS observed between serum selenium concentrations and protein intake, suggesting that a factor other than protein intake underlay the elevated levels of serum selenium. The diabetic children as a group had significantly lower levels of selected serum proteins than the controls, in spite of a significantly higher intake of protein by the diabetic group. It is suggested that both reduced serum proteins and elevated levels of serum selenium in the diabetic children are an expression of altered metabolism in combination with the effects of current modes of insulin treatment in this disease.     

Episiotomy and third-degree tears

Summary. The relation of episiotomy to third-degree perineal tears was investigated in 21 273 singleton deliveries. The incidence of episiotomy was 28.4% ( n =6041). Third-degree tears occurred in 14% (85) of the deliveries with episiotomy and in 0.9% (132) of the deliveries without episiotomy ( P <0.01). To avoid the effect of confounding factors, we analysed a sub-sample that included only vertex presentations with spontaneous occipitoanterior vaginal deliveries. After stratification for birthweight and parity, no relation between episiotomy and third-degree tear was found.     

The effect of noise on cochlear blood flow in the conscious rabbit

The cochlear blood flow was measured with the microsphere method in unanesthetized rabbits, prior to and during noise–exposure. Different sound pressure levels were used: 100 dB, 115 dB and 120 dB. Some of the animals had the cervical sympathetic trunk cut unilaterally. The effects of the delivered noise on the organ of Corti were studied in other rabbits with scanning electron microscopy. In spite of ultrastructural changes indicating damage of sensory cells after 115 dB and 120 dB exposure no changes of the total cochlear blood flow could be observed. After unilateral section of the cervical sympathetic trunk the cochlear blood flow was less on the intact side (25 %) already prior to noise exposure and the difference was not significantly affected by noise. Different sizes of microspheres were used: 8.2, 8.4, 8.7, 9.2 μAm. The 8.2 and 8.4 μ m–spheres seemed well fitted for measurements of cochlear blood flow but passed the cerebral capillaries to a high extent. Control experiments using both 8.2/8.4 μ m–spheres and 15 μ m–spheres were performed and the degree of passage in different tissues was estimated.     

Efflux of cyclic AMP,prostaglandin E2 and F2 and thromboxane B2 in leg lymph of rabbits after scalding injury

Leg lymph was collected from pentobarbital anaesthetized rabbits before and after scalding injury of the paw (75°C for 20 s), and the contents of cyclic AMP (cAMP), prostaglandin E₂ (PGE₂) and PGF_2α and thromboxane B₂ (TXB₂) in lymph were determined. After injury lymph flow increased about four times. The maximal rate of flow was found between 30 and 60 min after scalding. The efflux of cAMP and immunoreactive iPGE₂, iPGF_2α and iTXB₂ also increased. The maximum values were detected at approximately 0–30, 30–60, 30–60 and 180–240 min, respectively, after the injury. The output of cAMP, iPGE₂ and iPGF_2α and iTXB₂ in lymph of the contralateral non-scalded paw remained low throughout the experiments. When rabbits were injected with indomethacin (2.5 mg/kg) or diclofenac sodium (2.5 mg/kg) immediately after the scalding injury, the efflux of cAMP, iPGE₂ and iPGF_2α were low. Lymph flow was markedly reduced after treatment with diclofenac sodium; treatment with indomethacin did not significantly affect lymph flow. The results suggest a prostaglandin-dependent formation of cAMP following scalding injury which may be related to the initial responses to scalding.     

STRESS IN MARITAL INTERACTION AND DIET BEHAVIOR

The research examines the effects of stress in the marital relationship on dietary behavior. The theoretical model predicted that the marital stress of inequality and role disagreement would lead to an unfavorable reflected appraisal and low self-efficacy. The latter two variables are predicted to be related to the dietary indicator of fat consumption. One hundred and fifty-five married couples were selected by a random area sample from the state of Iowa. Husbands and wives were interviewed separately in the home. The results supported the stress model. Marital interaction stress had an effect on diet as mediated by the reflected self (how one imagines they are perceived by significant others) self-efficacy (perceived control over one's outcomes). Also, interesting gender differences were found. For husbands, reflected appraisal was related to per cent calories from fat in the diet whereas for wives, self-efficacy was related to per cent calories from fat. The differences in part reflect the changing role of women.©1997 John Wiley &Sons, Ltd.     

NUCLEAR p53 OVEREXPRESSION IS AN INDEPENDENT PROGNOSTIC PARAMETER IN NODE-NEGATIVE NON-SMALL CELL LUNG CARCINOMA

The prognosis of operated patients with non-small cell lung cancer (NSCLC) is poor despite thorough pre-operative staging. An improved preselection is needed of patients likely to profit from surgery. This study was undertaken to evaluate the prognostic significance of nuclear p53 overexpression in a cohort of 247 surgically treated patients with NSCLC. It showed that the prevalence of immunohistochemically detectable p53 overexpression varied between different tumour types. p53 overexpression was equally frequent in large cell carcinoma (53 per cent) and in squamous cell carcinoma (54 per cent), but significantly less frequent in adenocarcinoma (34 per cent; P =0·009). p53 overexpression was particularly rare in bronchioloalveolar carcinoma (positivity in 1 of 17 cases). These variations may reflect aetiological differences between the histological subtypes. p53 overexpression was also associated with high tumour grade ( P =0·0157) and the presence of lymph node metastasis ( P =0·0259), but not with advanced tumour stage. Survival analysis showed no difference in clinical outcome between p53-positive and p53-negative tumours within 101 node-positive tumours. In contrast, survival time was significantly better in p53-negative tumours than in p53-positive tumours within the group of 113 node-negative tumours ( P =0·032). Stepwise regression analysis showed that p53 overexpression is an independent prognostic factor in node-negative NSCLC.     

Handedness in children at school entry: does the ‘Mesker test’ provide a valid method for testing writing handedness?

Summary The 'Mesker test', an experiment devised after the psycho-motor dominance test described by the Dutch paediatrician Mesker, was evaluated as a method for testing writing handedness in 145 children at school entry in Crewe Health Authority. Also included in the assessment was if, and how these children know their laterality.
Positive outcome was measured as Mesker test result corresponding to spontaneous hand-preference in symbol copying. The correct indication of right arm or leg was evaluated in relation to the outcome by chance.
The Mesker test could not confirm hand-preference in children at school entry. There was no significant relation to the child's maturity and no significant consistency in test performance. The sub-group of right-handed writers who confirmed their handedness showed an almost significant level of consistency.
No more children who thought they knew the right side indicated the correct limb then could have been arrived at by chance. This was not significantly related to having been taught, writing handedness or maturity. It is concluded therefore, that at school entry age children don't have a good knowledge of their body's laterality.
Although the Mesker test does not confirm writing handedness at school entry, it may be useful in older children with inconsistent laterality.     

Immunological Status in the Aetiology of Recurrent Otitis Media with Effusion: Serum Immunoglobulin Levels,Functional Mannose-Binding Lectin and Fc Receptor Polymorphisms for IgG

The objective was to study the role of serum immunoglobulin levels, mannose-binding lectin (MBL), and Fc gamma receptor (FcR) polymorphisms on the development of recurrent otitis media with effusion (OME). Children aged between two and seven years with persisting OME received bilateral tympanostomy tubes and immunological parameters were investigated in relation with OME recurrence within six months after tube extrusion. No statistically significant differences in serum immunoglobulin levels were present between children with and without OME recurrence. In children with bilateral recurrence (n = 56), median levels of MBL were 1.39 mg/L compared to 2.48 mg/L in children with OME recurrence (n = 17) (p = 0.29). In addition, 34% of the children with bilateral recurrence were homozygous for the genotype FcRIIa-R/R131, whereas less than 20% of the children with unilateral recurrence or those without recurrence were homozygous for this Fc receptor (p = 0.26). Serum mannose-binding lectin and FcRIIa-R/R131 polymorphism may play a role in the aetio-pathogenesis of recurrent OME.