Biomedical subjects
Publications and source records attributed to I Butler.
A cohort of 69 physically abused babies under 1 year was followed for three years after the incident. Of the 49 babies who returned home following child protection investigations, 15 were further abused in the three year period, a re-abuse rate of 31%, which is grossly higher than the abuse rate in the general population.
OBJECTIVES: The purposes of this study were: (1) to ascertain the incidence and nature of severe physical child abuse in Wales; (2) to ascertain the incidence of all physical abuse in babies under 1 year of age; and (3) to determine whether child protection registers (CPR) accurately reflect the numbers of children who are physically abused. METHODS: This is a population-based incidence study based in Wales, UK, for 2 years from April 1996 through March 1998. Children studied were under the age of 14 with severe physical abuse consistent with the criminal law level of Grievous Bodily Harm. This included seven categories of injury (death; head injury including subdural hemorrhage; internal abdominal injury; physical injury in Munchausen Syndrome by Proxy including suffocation; fracture; burn or scald; adult bite). Cases were ascertained by a pediatrician surveillance reporting system (WPSU). A criterion for inclusion was multidisciplinary agreement that physical abuse had occurred (at case conference, strategy meeting, or Part 8 Review). The incidence of all babies under 1 year of age with physical abuse was also studied. Ascertainment of babies under the age of 1 year was undertaken from CPR as well as the WPSU. RESULTS: Severe abuse is six times more common in babies [54/100,000/year (95% CI +/- 17.2)] than in children from 1 year to 4 years of age [9.2/100,000 (95% CI +/- 3.6)]. It is 120 times more common than in 5- to 13-year-olds [0.47/100,000 (95% CI +/- 0.47)]. This is mainly because two types of serious abuse (brain injury including subdural hemorrhage and fractures) are more common in babies under the age of 1 year than older children. Using data from two sources (the WPSU and CPRs), the incidence of physical abuse in babies is 114/100,000 (CI 114 +/- 11.8) per year. This equates to 1 baby in 880 being abused in the first year of life. The largely rural Health Authority area in Wales had incidence figures for abuse in babies that were 50% of the three other predominantly urban Health Authority areas. Boys throughout the series were more at risk of being severely abused than girls (p < .025). Only 29% of the babies under 1 year of age on the CPR had actually been injured. Thirty percent of abused babies under the age of 1 year and 73% of severely abused children over the age of 1 year had caused previous concern to health professionals regarding abuse or neglect. CONCLUSIONS: Physical abuse is a significant problem in babies under the age of 1 year. Very young babies (under 6 months old) have the highest risk of suffering damage or death as a result of physical abuse. Severe abuse, in particular subdural hematoma and fracture, is much more common in babies than in older children. There is evidence of failure of secondary prevention of child abuse by health professionals, with a greater need to act on concerns regarding abuse and neglect. Interagency child protection work in partnership with parents should focus more on protecting babies under age 1 year from further abuse than on maintenance of the infant within an abusive home. The CPR is not intended as an accurate measure of children suffering abuse. It is a record of children requiring a child protection plan and must not be used as a measure of numbers of abused children.
We studied the clinical, biochemical, and genetic features of eight patients with the autosomal recessive mitochondrial syndrome mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). MNGIE is clinically characterized by ophthalmoparesis, peripheral neuropathy, leukoencephalopathy, gastrointestinal symptoms (recurrent nausea, vomiting, or diarrhea) with intestinal dysmotility, and histologically abnormal mitochondria in muscle. Brain MRI scans were consistent with leukodystrophy in seven patients examined. Nerve conduction and EMG studies were compatible with a sensorimotor neuropathy; quantitative EMG of two patients suggested a myogenic process. Muscle mitochondrial enzyme analysis revealed a partial defect of cytochrome c oxidase activity in five patients; three had additional respiratory chain enzyme defects. Two patients had isolated complex I defects, and one had normal respiratory chain function. Southern blot analysis revealed multiple deletions of mitochondrial DNA in four of eight patients.
Stereotactic techniques were used to transplant adrenal medullary tissue to the head of the right caudate nucleus in 12 patients with Parkinson's disease. No significant lasting complications were seen. All patients had an initial improvement. 11 of the 12 patients remain improved over their preoperative condition after 6-18 months, 3 with good results and 9 with only modest improvement. At 6 months, the mean Schwab and England score had improved from 59.2 +/- 18.8 preoperatively to 75.8 +/- 15.1 (p less than or equal to 0.01) and the mean Hoehn and Yahr scale had improved from 3.42 +/- 0.90 to 2.92 +/- 0.63 (p less than or equal to 0.01).
Lysosomal storage diseases (LSD) affect cells of the conjunctiva in the absence of clinical eye findings. Consequently conjunctiva was added to skin, rectal mucosa, and peripheral blood lymphocytes as a biopsy site for electron microscopic examination in suspected LSD. The abnormally stored substrates in LSD are the result of diminished lysosomal enzyme activity. Although all cells lack the deficient lysosomal enzyme, the quantity of stored material varies with the extent of breakdown of substrate in the cell under normal circumstances. The stored material does not accumulate in all cells and may have a different cellular morphology at different sites. Although no one tissue provides universally diagnostic material for electron microscopy, skin and conjunctiva are optimal for most LSD. Rectal mucosa and peripheral blood lymphocytes are also useful in many cases. Biochemical assays have replaced brain biopsy for diagnosis but these techniques may give equivocal or non-diagnostic results, and in some diseases the enzyme defect remains undefined. Of the 359 biopsies of conjunctiva, skin, rectal mucosa, and lymphocytes we evaluated for LSD and other neurodegenerative diseases, 65 showed abnormal lysosomal storage; in 41 a specific diagnosis was made by biochemical assay or morphology. Ultrastructural examination of tissue from patients with clinically suspected storage disease may disclose pathognomonic alterations or suggest a differential diagnosis even in the absence of clinically evident involvement of the biopsied tissue. Biopsy has particular value in those diseases with incompletely characterized biochemical abnormalities.
A 26-year-old woman was in spontaneous clinical remission from myasthenia gravis (MG) for six months, yet gave birth to a full-term infant with typical neonatal MG. It is believed that transplacental transfer of anti-acetylcholine (ACh) receptor antibodies is responsible for neonatal MG; therefore, neonatal MG represents an in vivo assay of the pathogenic potential of anti-ACh receptor antibodies in 2 human individuals. Anti-ACh receptor antibodies were present in both mother and infant (titers 12.3 X 10(-9) and 4.4 X 10(-9) moles per liter, respectively) at the time of birth, and both mother's and infant's sera accelerated the degradation of ACh receptors in myotube cultures. This case suggests that "host factors" unique to the individual appear to modify or even determine whether the presence of anti-ACh receptor antibodies will result in clinical myasthenia.
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