Perianal anatomy in non-abused preschool children

The purpose of this study was to describe the normal variation in perianal anatomy in preschool children, selected for non-abuse, and to compare the findings in two examination positions. A letter of invitation was sent to 3773 children, after which 305 children (103 boys and 202 girls) were recruited. Inclusion in the study was based on self-selection, whereby parents who did not suspect any occurrence of sexual abuse of their child gave informed consent to participate. The mean age of the children was 5.63 y (range: 5.13-6.75). An anal examination was performed in the left lateral position (LLP) and the prone knee-chest position (KCP), for approximately 30 s each. A colposcope and a camera were used. All data were systematically analysed for gender differences, and a paired sample test was used to compare findings in LLP and KCP. Venous congestion in LLP and external anal dilatation in both positions were significantly more common in girls, while midline depressions and smooth areas (both positions) were significantly more common in boys. External and total anal dilatation, midline smooth areas and depressions and the occurrence of a prominent anal verge were significantly more common in the KCP. The finding of total anal dilatation was rare. CONCLUSION: We observed several gender and position differences in perianal anatomy, and most of these findings seem to be related to structure and tone in the anal muscles.     

ENDOMETRIOMA OF THE LIVER

Hepatic endometriosis is extremely rare. The diagnosis is often missed and treatment is delayed. A 37-year-old woman was referred to the gynaecology department with vague abdominal pains. She had a past history of pelvic endometriosis and hysterectomy with bilateral salpingo-oophorectomy. Further investigations in due course confirmed it to be endometriosis of the liver. She was eventually referred to the hepatobiliary unit, almost three years after her first presentation, where she was operated on with good results.     

Successful Treatment of Bone Marrow Failure in Gaucher's Disease with Low-dose Modified Glucocerebrosidase

We report the beneficial effects of enzyme replacement therapywith mannose-terminated human glucocerebrosidase (‘Ceredase’)in a patient suffering from transfusion-dependent bone marrowfailure due to Gaucher's disease. Treatment with low-dose enzymeinfusions, given twice weekly, rapidly reversed the haematopoieticfailure and incapacitating skeletal disease. It appears likelythat prior splenectomy favourably influenced the response tothis therapy.     

Increased number of substitutions in the D-loop of mitochondrial DNA in the sudden infant death syndrome

The purpose of the present study was to investigate substitutions in the D-loop of mitochondrial DNA (mtDNA) in sudden infant death syndrome (SIDS) and controls, since several observations indicate the involvement of mtDNA mutations in SIDS. These include elevated levels of vitreous humour hypoxanthine in SIDS victims, familial clustering without mendelian traits, and observations of increased sleepiness and a lower activity score in infants who later succumbed to SIDS. Eighty-two cases of SIDS and 133 controls were investigated and the D-loop sequences were recorded in the base-pair range 16 055-16 500 in the mtDNA sequence. The sequencing was carried out using the Applied Biosystems Sequenase dye terminator method and a ABD373A sequencer. The recorded D-loop sequences were compared with the Cambridge sequence and differences were recorded as substitutions. The SIDS cases had a tendency towards a higher substitution rate in the D-loop than the controls ( p = 0.088). This observation makes it interesting to search for deleterious mutations in other locations in the mtDNA.