Search PubMed⌕ Search

Biomedical subjects

J Lorber

Publications and source records attributed to J Lorber.

At least 55 records · Page 3Linked to original sources
PubMed1975

Physical and mental defect of chromosomal origin in four individuals of the same family. Trisomy for the short arm of 9.

A family with the reciprocal translocation t(9;22)(q13;q11) segregating in genetically balanced and unbalanced form is identified. The clinical features of four members with trisomy for the short arm of 9, and the proximal part of the long arm of 9, are described in detail. Features in common are summarized and compared with developmental abnormality observed in other examples of trisomy for the short arm of 9. An attempt is made to delineate further the clinical features commonly seen in trisomy for the short arm of 9.

Adult↗
PubMed1975

Lacunar skull deformity related to intelligence in children with myelomeningocele and hydrocephalus.

It has been suggested that the presence of lacunar skull deformity in infants with myelomeningocele and hydrocephalus is indicative of later lowered intelligence and therefore is a useful criterion in early selection for treatment. In the present study, retrospective investigations were made of the clinical records and skull X-rays of 169 surviving children who had been admitted immediately after birth with myelomeningocele and hydrocephalus to the Children's Hospital, Sheffield. Adequate X-rays were available for 131 of the children, of whom 97 per cent exhibited some degree of lacunar skull deformity. At five years of age or older, the 131 children were tested on the Wechsler Intelligence Scale for Children. The differences in mean IQ between the various degrees of severity were not large, and it was found that 82 per cent of children with the most severe degree of lacunar skull deformity had IQs above 70. These findings do not support the use of lacunar skull deformity as an important measure in selection for treatment of children with myelomeningocele and hydrocephalus.

Cerebrospinal Fluid Shunts↗
PubMed1975

Amniotic fluid alpha1fetoprotein in the diagnosis of neural tract malformations.

Amniotic fluid alpha1fetoprotein levels were determined in 400 pregnancies. The normal range for alpha1fetoprotein in amniotic fluid was defined by 350 samples from normal pregnancies. Elevated levels of alpha1fetoprotein were detected in 17 out of 18 pregnancies which gave rise to infants with neural tract abnormalities. The significance of this test in the antenatal diagnosis of neural tract abnormalities is discussed together with the possible reasons for "false negative" and "false positive" results. There were no complications in an individual series of 105 consecutive amniocenteses.

Alpha-Globulins↗
PubMed1975

Isosorbide in treatment of infantile hydrocephalus.

This paper reports the experiences of the second clinical trial in the use of isosorbide in the treatment of 34 selected cases of infantile hydrocephalus of all types. Subject to careful biochemical monitoring of serum electrolyte, urea, and acid-base balance, treatment with 2 g/kg body weight 6-hourly is safe. Side effects are immediately eliminated by interrupting therapy. With lower dosage, prolonged maintenance therapy was possible, for as long as 11 months, without side effects and with need for much less frequent biochemical monitoring. Isosorbide effectively prevented the need for shunt therapy in 10 of 34 patients, including 3 infants with uncomplicated congenital hydrocephalus of moderate degree and infants whose hydrocephalus was associated with spina bifida and whose cerebral mantle was between 20 to 25 mm. In posthaemorrhagic and postmeningitic hydrocephalus valuable time was gained before shunt therapy until the infant and his CSF were fit for operation.

Adolescent↗
PubMed1975

Ethical problems in the management of myelomeningocele and hydrocephalus. The Milroy Lecture 1975.

Within the last generation the application of major advances in drug therapy, intensive care, transfusion techniques, surgery, anaesthesia, and radiotherapy, together with a vast expansion of knowledge due to increased investigative facilities, have led to an unprecedented, dramatic and beneficial increase in the number of persons who would previously have died, or lived with severe handicaps, but can now be cured. Techniques have also been developed to prolong the lives of many people who are now able to enjoy several extra years of productive and meaningful existence, and to alleviate and improve the quality of life of many seriously handicapped persons, enabling them to become integrated as useful and contented members of the community. Choosing from numerous examples of paediatric experience, it is notable that many more extremely premature infants now survive without physical or intellectual damage; infection can almost always be cured, including neonatal and all other forms of pyogenic meningitis and the now rare cases of tuberculous meningitis and miliary tuberculosis. The few remaining new cases of Rh-haemolytic disease are also readily cured. There are outstanding successes in the treatment of childhood malignancy. Paediatric surgery has made great strides. The prognosis of congenital heart disease, of obstructions of the alimentary canal and many other conditions has improved beyond recognition. Unfortunately, the indiscriminate use of advanced techniques of all types has also kept alive those who would have died but now live with distressing physical or mental handicaps or both, often for many years, without hope of ever having an independent existence compatible with human dignity. There are many examples, including those who have sustained major brain or spinal cord injuries.

Adolescent↗