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1.  Obstructive apnoeas in Duchenne muscular dystrophy. 
Thorax  1994;49(2):157-161.
BACKGROUND--In order to clarify the treatment of sleep hypoxaemias in Duchenne muscular dystrophy polysomnographic studies were performed on patients at home with the purpose of recruiting them into two clinical therapeutic trials. Observations concerning the nature of sleep hypoxaemia in these patients are presented. METHODS--Twenty one non-ambulant patients with Duchenne muscular dystrophy aged 13-23 years with no symptoms of sleep hypoventilation or apnoea were studied for two consecutive nights with eight channel polysomnography. A comparative study was performed in 12 age matched normal male subjects. The evolution of sleep hypoxaemia with age was studied in 14 patients with Duchenne muscular dystrophy. RESULTS--Thirteen of the 21 patients had hypoxaemia below 90% during sleep, and 12 of the 13 had discrete hypoxaemic dips in association with apnoeas; 60% of all apnoeas were obstructive in nature. The hypoxaemic periods became more frequent with increasing age and, in two patients at three year follow up, were more frequently associated with central or possibly "pseudocentral" apnoeas. Although the normal subjects had a few apnoeic episodes, none had sleep hypoxaemia below 90% saturation. CONCLUSION--The sleep related breathing abnormality in Duchenne muscular dystrophy is initially obstructive and this has implications for management.
PMCID: PMC474334  PMID: 8128406
2.  Sleep studies and supportive ventilatory treatment in patients with congenital muscle disorders. 
Archives of Disease in Childhood  1996;74(3):195-200.
Eight ambulant children aged 6-13 years, four with congenital myopathy, two with congenital muscular dystrophy and two with the rigid spine syndrome, presented with recurrent chest infections, morning headaches, shallow breathing at night, or respiratory failure. Polysomnography confirmed the presence of nocturnal hypoxaemia with oxygen saturation on average less than 90% for 49% of sleep and less than 80% for 19% of sleep accompanied with severe hypoventilation. Additionally there was sleep disturbance characterised by an increased number of wake epochs from deep sleep (in comparison to 10 non-hypoxaemic subjects). The severity of sleep hypoxaemia did not correlate with symptoms. Treatment with night time nasal ventilation was started and repeat polysomnography showed normal overnight oxygen saturation and a reduced number of wake epochs during deep sleep. It is important to be vigilant for sleep hypoventilation in these patients and sleep studies should be part of the routine respiratory evaluation. Treatment with nasal ventilation is effective in reversing the nocturnal respiratory failure without significant disturbance to life style.
PMCID: PMC1511397  PMID: 8787421
3.  Dopa responsive dystonia. 
Archives of Disease in Childhood  1995;73(3):256-257.
There may be insufficient awareness of dopa responsive dystonia (DRD), which has a characteristic diurnal variation of symptoms. Two children are reported in whom the diagnosis of DRD was missed. The first was thought to have hysteria and the second hereditary spastic paraparesis. A full history is vital for the diagnosis of this important treatable syndrome.
PMCID: PMC1511297  PMID: 7492170
4.  A linkage study of a large pedigree with X linked centronuclear myopathy. 
Journal of Medical Genetics  1990;27(5):281-283.
Centronuclear myopathy (CNM) is a muscle wasting disorder that occurs in three distinct forms. Previous studies have shown linkage between the X linked form of the disease and the Xq28 probes ST14, DX13, and F8C. Our study on a previously unreported, three generation, X linked CNM family confirms linkage between these markers and the CNM locus (Z = 3.21, theta = 00). However, results from the laboratory of J-L Mandel (Samson and Hanover, personal communication) on a number of X linked CNM families exclude genetic linkage from the region Xq26-qter, suggesting genetic heterogeneity in this condition.
PMCID: PMC1017075  PMID: 2352255
5.  Seizure induction by alcohol in patients with epilepsy experience in two hospital clinics. 
We surveyed 70 epileptic patients attending a general neurology clinic and 64 patients attending an epilepsy clinic to determine the incidence of alcohol-related seizures. Seven (10%) of the neurology clinic patients and 9 (15%) of the epilepsy clinic patients reported exacerbation of their seizures with alcohol. In the first group, two had been heavy drinkers when under-age, two had features of alcohol dependence, and three had experienced resolution of seizures following cessation of their drinking. In the second group, five drank 4 units/day or more, and one drank more heavily. The importance of alcohol in the causation of these patients' seizures had not previously been appreciated. The relationship of alcoholism to epilepsy has been recognized for many years, but the role of alcohol in the exacerbation of primary epilepsy, and in triggering seizures in epileptic patients is often not recognized. Control of alcohol ingestion is an important factor in the management of epilepsy.
PMCID: PMC1292453  PMID: 2106032
6.  Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy. 
Journal of Medical Genetics  1989;26(11):682-693.
Cloned cDNA sequences representing exons from the Duchenne/Becker muscular dystrophy (DMD/BMD) gene were used for deletion screening in a population of 287 males males affected with DMD or BMD. The clinical phenotypes of affected boys were classified into three clinical severity groups based on the age at which ambulation was lost. Boys in group 1 had DMD, losing ambulation before their 13th birthday; those in group 2 had disease of intermediate severity, losing ambulation between the ages of 13 and 16 years; and boys in group 3 had BMD, being ambulant beyond 16 years. A fourth group consisted of patients too young to be classified. Clinical group allocation was made without previous knowledge of the DNA results. A gene deletion was found in 124 cases where the clinical severity group of the affected boy was known. The extent of the deletions was delineated using cDNA probes. There were 74 different deletions. Fifty-five of these were unique to individual patients, but the other 19 were found in at least two unrelated patients. The different clinical groups showed generally similar distributions of deletions, and the number of exon bands deleted (that is, deletion size) was independent of phenotype. Some specific deletion types, however, correlated with the clinical severity of the disease. Deletion of exons containing HindIII fragments 33 and 34 and 33 to 35 were associated with BMD and were not found in patients with DMD. Deletions 3 to 7 occurred in four patients with the intermediate phenotype and one patient with BMD. Other shared deletions were associated with DMD, although in four cases patients with disease of intermediate severity apparently shared the same deletion with boys with DMD. The range of phenotypes observed, and the overlap at the genetic level between severe and intermediate and mild and intermediate forms of dystrophy, emphasizes the essential continuity of the clinical spectrum of DMD/BMD. There were no characteristic deletions found in boys with mental retardation or short stature which differed from deletions in affected boys without these features.
PMCID: PMC1015738  PMID: 2585468
8.  Respiratory muscle training in Duchenne muscular dystrophy. 
Archives of Disease in Childhood  1989;64(5):736-738.
Twenty two boys with Duchenne muscular dystrophy were entered into a randomised double blind crossover trial to compare respiratory muscle training with a Triflow II inspirometer and 'placebo' training with a mini peak flow meter. Supine posture was associated with significantly impaired lung function, but respiratory muscle training showed no benefit.
PMCID: PMC1792043  PMID: 2658856
10.  Congenital myotonic dystrophy: respiratory function at birth determines survival. 
Archives of Disease in Childhood  1989;64(2):191-195.
The clinical features of 14 neonates with congenital myotonic dystrophy were retrospectively reviewed. These babies represent all the new cases of congenital myotonic dystrophy seen in this department since 1982. Twelve babies were referred because of either difficulties in diagnosis or difficulties in the management of their respiratory problems. Of the 14 babies, 13 had birth asphyxia, 11 were premature, and four had intrauterine growth retardation. Ten babies required artificial ventilation from birth. Abnormalities on chest radiography included thin ribs (n =9) and raised right hemidiaphragms (n = 5). Recurrent episodes of collapse and consolidation of the lungs secondary to poor swallowing occurred in all ventilated babies. All babies ventilated for longer than four weeks died of respiratory complications before the age of 15 months. One baby was successfully extubated after diaphragmatic plication, but he died a few months later. Duration of ventilation was the best guide to prognosis.
PMCID: PMC1791880  PMID: 2930224
12.  The application of linkage analysis to genetic counselling in families with Duchenne or Becker muscular dystrophy. 
Journal of Medical Genetics  1987;24(3):152-159.
A total of 278 families of probands with Duchenne or Becker muscular dystrophy has been ascertained and offered genetic counselling. Linkage studies have been performed in these families using polymorphic DNA markers identifying loci linked to Duchenne and Becker muscular dystrophy. The clinical features of the probands are discussed: there was marked intrafamilial resemblance in the severity of the disease. We estimate that a complete study of potential carriers in these families would require analysis of samples from approximately 1400 subjects. The results of linkage studies tended to move women's carrier risk estimates (based on CK and pedigree data) towards the extremes of the risk categories, providing a more definitive risk estimate for 81% of the women who were previously in the middle range of carrier risk probabilities. About 70% of the families had only one affected member. Linkage analysis altered carrier risk estimates in 95% of sisters and aunts of index cases, but only affected estimates of the mother's carrier risks in about 11% of isolated cases. Even where linkage studies were not helpful in elucidating carrier risks, information could usually be obtained for use in prenatal diagnosis if required. We have assessed the attitudes to pregnancy and prenatal diagnosis of women at risk of being carriers of Duchenne or Becker muscular dystrophy and report 17 pregnancies in these women.
PMCID: PMC1049948  PMID: 3572997
13.  Low serum thyroxine concentrations and neural maturation in preterm infants. 
Archives of Disease in Childhood  1986;61(9):862-866.
The effect of hypothyroxinaemia on postnatal progression of the motor nerve conduction velocity was studied in 33 very low birthweight infants. Serum concentrations of thyroid stimulating hormone, triiodothyronine, and thyroxine were determined at birth and at ages 3, 7, and 21 days. Nerve conduction velocity was measured in the first week of life, on day 21, and at 40 weeks' postmenstrual age. Seven infants maintained their thyroxine concentration above 60 nmol/l (4.67 micrograms/100 ml) throughout the study. Three of these infants needed mechanical ventilation and one had an intraventricular haemorrhage. Twenty six infants developed hypothyroxinaemia (thyroxine less than 60 nmol/l). The nerve conduction velocity was delayed in 13 infants, two on day 21 and 11 at 40 weeks' postmenstrual age. The delay was equivalent to 1.9-4.4 weeks. All these infants belonged to the group with depressed thyroxine concentrations. The delay in progression in nerve conduction velocity was associated with prolonged hypothyroxinaemia, especially in those infants who also required ventilation. Further studies are in progress to study the effect of thyroid hormone on the nerve conduction velocity in preterm infants.
PMCID: PMC1778019  PMID: 3767414
14.  Effects of posture and spinal bracing on respiratory function in neuromuscular disease. 
Archives of Disease in Childhood  1986;61(2):178-181.
Effects of posture and spinal bracing on lung function were studied in 40 children with neuromuscular disease, 20 of whom had scoliosis and were non-ambulant. Change from sitting to supine position had little effect on lung function in ambulant children, but caused a significant 12% reduction in forced vital capacity in a group of 16 non-ambulant children with scoliosis, suggesting diaphragmatic weakness in some. Spinal bracing, using a rigid supporting jacket, resulted in a significant reduction in mean vital capacity of 22%. The degree of impairment in forced vital capacity was proportional to the severity of the scoliosis (as measured by the Cobb's angle), to the amount of correction achieved by the brace, and to the degree of diaphragmatic weakness. Spinal bracing in a child with established severe scoliosis causes appreciable respiratory impairment, and this may explain why it is less likely to be tolerated than early prophylactic bracing.
PMCID: PMC1777595  PMID: 3954442
15.  Diagnostic needle muscle biopsy. A practical and reliable alternative to open biopsy. 
Archives of Disease in Childhood  1984;59(6):528-532.
The technique of needle muscle biopsy using the Bergstr öm needle has been in routine use in our muscle clinic since 1978. In an initial feasibility study 24 children had a needle and an open biopsy performed simultaneously through extension of the same incision and 22 had identical interpretation of the needle and open biopsies. Needle biopsies have subsequently been performed in 674 children and have been satisfactory for diagnostic assessment in 656. The samples have been of adequate size and comparable in quality to our previous open biopsies, with good preservation and orientation. Needle muscle biopsy under local anaesthetic is quicker and less traumatic than open biopsy and leaves only a very small scar. Sufficient muscle can be obtained for routine histological, histochemical, and electronmicroscopic diagnosis, as well as for specialised biochemical and research purposes. There seems little justification for the continued use of open biopsy for routine investigation of neuromuscular disease.
PMCID: PMC1628762  PMID: 6742872
16.  Drug treatment of juvenile dermatomyositis. 
Archives of Disease in Childhood  1983;58(6):445-450.
A series of 29 children with dermatomyositis has been reviewed and the outcome compared between cases treated by us initially with a low dosage short duration course of corticosteroids, and those referred late and having had various different therapeutic regimens and usually more active and higher dosage drug schedules. There were fewer relapses and less morbidity in the low dosage short term group. It was noted also that there was no relation between the initial mode of onset or severity and the eventual outcome or course of the disease. However, pronounced skin vasculitis appeared to reflect severity of disease.
PMCID: PMC1627987  PMID: 6859938
17.  Acute anuric renal failure in an infant with systemic candidiasis 
We report a newborn baby who presented with acute anuric renal failure resulting from systemic candidiasis. The predisposing factors and diagnostic features are examined.
PMCID: PMC1545192  PMID: 420527
18.  Coliform meningitis in the newborn. 
Archives of Disease in Childhood  1976;51(8):569-575.
Thirty-six patients with coliform meningitis in the 15-year period 1960-1974 are reported. Only 9 patients survived unscathed though the other 5 survivors were not seriously affected. During the septicaemic phase of the illness the cerebrospinal fluid (CSF), though positive on culture, may be otherwise normal. Meningitis can ensue even when the patient is receiving antibiotics to which the organism is sensitive and the possible disadvantages of using a nondiffusible antibiotic must be appreciated. The CSF in Esch. coli meningitis can be persistently haemorrhagic which may cause difficulties in the initial diagnosis. It must be emphasized that infective illness in the newborn is often nonspecific in its presentation and that repeated bacteriological investigations are essential in neonates who are unwell.
PMCID: PMC1546084  PMID: 786182
20.  Failure of phenobarbitone to prevent febrile convulsions. 
British Medical Journal  1976;1(6009):559-561.
One-hundred-sixty-five children without known neurological disorder who presented with their first febrile convulsion between the ages of six months and three years were assigned to daily phenobarbitone treatment or to a control group and followed up at a special clinic for six months. One-hundred-and-sixty-one-one children completed the trial, and of the 88 children assigned to phenobarbitone treatment 10 had further convulsions during this period compared with 14 of the 73 control children. Only 49 of those assigned to phenobarbitone took the drug regularly throughout the trial, and four of these had further febrile convulsions, a proportion not significantly different from that in the controls. All four had mean plasma phenobarbitone concentrations over 69 mumol/l (16 mug/ml) during the trial and in three the plasma concentration was at or over this figure within eight hours over 69 mumol/l (16 mug/ml) during the trial and in three the plasma concentration was at or over this figure within eight hours of the repeat convulsion. Regular phenobarbitone does not seem to prevent febrile convulsions. Attention should instead be directed to organising emergency services to allow early termination of fevrile convulsions, whether first or subsequent, to prevent irreversible brain damage.
PMCID: PMC1639342  PMID: 1260273

Results 1-21 (21)