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Biomedical subjects

C Rose

Publications and source records attributed to C Rose.

373 records · Page 21Linked to original sources

Granulomatous cheilitis and Crohn's disease in a 3-year-old boy.

Granulomatous cheilitis and Crohn's disease are disorders of unknown etiology. There are case reports describing their coincidence and pointing out the necessity of ruling out systemic disorders once the diagnosis of granulomatous cheilitis is made. However, such reports are few and the causal association of both diseases is controversial in the literature. We report the youngest patient so far, a 3-year-old boy, who had granulomatous cheilitis and Crohn's disease simultaneously. This coincidence so early in life strongly suggests that both represent manifestations of the same disease.

Anti-Infective Agents↗

Classification of passive auditory event-related potentials using discriminant analysis and self-organizing feature maps.

Discriminant analysis (DA) and self-organizing feature maps (SOFM) were used to classify passively evoked auditory event-related potentials (ERP) P(1), N(1), P(2) and N(2). Responses from 16 children with severe behavioral auditory perception deficits, 16 children with marked behavioral auditory perception deficits, and 14 controls were examined. Eighteen ERP amplitude parameters were selected for examination of statistical differences between the groups. Different DA methods and SOFM configurations were trained to the values. SOFM had better classification results than DA methods. Subsequently, measures on another 37 subjects that were unknown for the trained SOFM were used to test the reliability of the system. With 10-dimensional vectors, reliable classifications were obtained that matched behavioral auditory perception deficits in 96%, implying central auditory processing disorder (CAPD). The results also support the assumption that CAPD includes a 'non-peripheral' auditory processing deficit.

Adolescent↗

Primary stability of interference screw fixation. Influence of screw diameter and insertion torque.

Interference screw fixation is frequently used in anterior cruciate ligament reconstruction with the bone-patellar tendon-bone graft. There have been no data available about the influence of screw diameter and insertion torque on primary stability. We designed a cadaveric study using paired knees to analyze the comparative effectiveness of 20-mm long screws of different diameters (9 mm versus 7 mm) and the significance of torque during screw insertion. Testing to failure was performed in a tensiometer with a crosshead speed of 200 mm/min. After slippage of a bone peg in the 7-mm screw specimens, the experiment was repeated in each specimen with a 9-mm screw fixation. Maximum tensile force was greater at the femoral insertion than at the tibial site. Results of refixations with 9-mm screws were only slightly inferior to the original 9-mm screw fixation specimens. Our results further showed that the torque can be used as a predictor of the stability of the bone block but cannot be used as an indicator for the strength of the reconstruction. The 7-mm screws are not recommended for tibial fixation. Failed 7-mm screw fixations can be replaced by 9-mm screws and refixations were successful in our study model.

Adult↗

Lichen striatus: clinical features and follow-up in 12 patients.

Lichen striatus (LS) is an uncommon disease of unknown origin characterised by a linear inflammatory papular eruption with spontaneous regression. We here review a series of 12 consecutive cases of LS. Diagnosis was supported by histological examination. Ten of our 12 patients were children aged 6 months to 12 years. The male gender predominated by 9:3. The lower limb was involved more often than the upper limb and trunk. The duration of the disease until regression ranged from 4 months to 4 years (median, 12 months). Postinflammatory hypopigmentation was noted in 5, and hyperpigmentation in 4 patients. Two patients showed nail involvement (onychodystrophy, longitudinal ridging) which appeared simultaneously with the skin lesions and resolved completely. A personal history of atopic disorders was found in 7 of 12 patients. From this series we can confirm that LS mainly affects children. Both skin and nail lesions disappear completely even if they last longer than one year. Compared with other studies, our series showed differences with regard to sex ratio, predilection sites and after effects.

Arm↗

[Beta(o)/beta(o) thalassemia with a mild phenotype].

We report the case of a 30 years old patient of Algerian origin, presenting a beta-thalassemia major with a phenotype of intermediate severity. Its genotype is beta(o)/beta(o), leading to a complete absence of beta-globin synthesis. This genotype is usually responsible for major clinical complications and a severe anaemia requiring regular transfusions. However, the patient presents with a mild form of the disease and a moderate relatively well tolerated anaemia. This phenotype was found related to a high level of synthesis of foetal haemoglobin, dependent most probably on an homozygous state for the polymorphism (XmnI -158, C>T) in the promoter of the Ggamma gene. This observation shows that it is important to keep in mind that beta-thalassemia major may have a mild or intermediate phenotype because of polymorphisms of the beta locus.

Adult↗

Pattern of metastases in human breast carcinoma in relation to estrogen receptor status.

The distribution of metastases at the first recurrence of breast cancer was studied in 57 estrogen receptor (ER) positive and in 23 ER negative patients, who constituted a subset of 460 patients with operable breast cancer. The pattern of metastases with respect to localization of metastases and the dominant site of first recurrence was similar in patients with ER positive and ER negative tumours. The recurrence-free survival (RFS) and the overall survival were associated with the ER status in the 460 patients. ER positive patients had both a significantly longer RFS (p = 0.0024) and survival (p = 0.0001) compared to ER negative patients. Survival after recurrence was prolonged in patients with soft tissue recurrences only, and the proportion of dead patients was highest in receptor negative patients with metastases to bone and viscera. In conclusion, we could not demonstrate that ER positive and negative tumours have a propensity for recurrence at specific sites.

Adult↗

Correlation between molecular genetic analyses and immunohistochemical evaluation of the epidermal growth factor receptor and p185HER2.

Several methods have been developed for the measurement of gene amplification and expression. This study compared different molecular genetic analyses (Southern blot analysis (SBA) and polymerase chain reaction (PCR)) with immunohistochemical (IHC) evaluation of the corresponding protein content. PCR may be used as a semi-quantitative analysis of gene amplification and allows DNA extraction from paraffin-embedded blocks. SBA is more accurate than PCR to measure the exact degree of amplification, but only DNA extracted from frozen or fresh tissue can be used. We examined 23 breast tumors and 16 lung tumors, where the genes HER-1 coding for the epidermal growth factor receptor (EGFR) and HER-2 coding for p185HER-2 were analysed. Furthermore, PCR performed on DNA from frozen tissue was compared to PCR on DNA extracted from paraffin-embedded blocks. The results showed correlation between the different analyses, especially when the gene copy number was highly amplified. Some breast tumors showed moderately increased gene copy number of HER-1 by SBA, but no increased protein content by IHC evaluation. This probably reflects that minor degrees of genetic aberrations are not sufficient to cause major biological disturbances, because regulatory cellular pathways are still operating.

Blotting, Southern↗