MUKHLIS MADLOM | The University of Sheffield (original) (raw)
Papers by MUKHLIS MADLOM
British Medical Journal, 1991
British Medical Journal, 1991
British Medical Journal, 1992
Archives of Disease in Childhood, 2002
Archives of Disease in Childhood, 1985
Archives of Disease in Childhood, 1999
Archives of Disease in Childhood - ARCH DIS CHILD, 2000
Archives of Disease in Childhood, 1996
A cross sectional epidemiological study was carried out to investigate the validity of persistent... more A cross sectional epidemiological study was carried out to investigate the validity of persistent nocturnal cough (PNC) as an independent marker of childhood asthma. A screening questionnaire on respiratory symptoms was applied to 4003 children attending primary schools in Aberdeen, after which 799 symptomatic children and a random selection of 229 asymptomatic children were invited to attend for a diagnostic interview. Six hundred and seven (359 boys and 248 girls) symptomatic children and 135 asymptomatic children (57 boys and 78 girls) were selected from the screening questionnaires. Of 607 children with respiratory symptoms when interviewed, 27 (nine boys and 18 girls) had isolated PNC, and 97 (51 boys and 46 girls) had multiple symptoms (polysymptomatic asthma). The incidence of prematurity was highest in the group with PNC (19%). The prevalence of hay fever in children with PNC (11%) was similar to that of the asymptomatic group (15%) and less than that in the group with polysymptomatic asthma (41%). Eczema was twice as common in the PNC (19%) as in the asymptomatic children (10%) but only half as common in the polysymptomatic asthma group (35%). The prevalence of a parental history of hay fever was similar in all three groups. The prevalence of a parental history of eczema was similar in the PNC (7%) and asymptomatic (7%) groups but higher in the polysymptomatic asthma group (22%). The prevalence of a history of parental asthma was 30% in children with PNC, 13% in the asymptomatic group, and 42% in those with polysymptomatic asthma. The parents of three (11%) children with PNC were aware of a diagnosis of asthma; two of these children (7%) were on inhaled bronchodilator treatment and one (4%) was on a slow release theophylline preparation. Using a stepwise discriminant analysis procedure, in 18 (67%) children with PNC predicted membership was in the asymptomatic group and only nine (33%) children with PNC were grouped into the polysymptomatic asthma category. It is concluded that the clinical features of children with PNC resembled those of the asymptomatic population more closely than those of the polysymptomatic asthmatic population. In this age group PNC, in the absence of wheeze, shortness of breath or tightness in the chest, is likely to be a manifestation of atypical or hidden asthma in only a minority of cases.
Journal of Medical Genetics, 1987
A child with an unbalanced translocation resulting in monosomy for chromosomes 22 (q11----pter) a... more A child with an unbalanced translocation resulting in monosomy for chromosomes 22 (q11----pter) and 3(p25----pter) is described. Although no immunological dysfunction could be demonstrated, the abnormalities found are similar to those seen in the di George syndrome which has been associated with monosomy for the same region of chromosome 22.
European Journal of Pediatrics, 1989
A boy with marked hepatomegaly and motor weakness was investigated for glycogen storage disease. ... more A boy with marked hepatomegaly and motor weakness was investigated for glycogen storage disease. Glycogen accumulation was demonstrated in both liver and muscle and there was a deficiency of phosphorylase b kinase activity. On the basis of biochemical findings, an autosomal recessive mode of inheritance was considered likely, rather than the more common X-linked variant, with primarily liver involvement.
Developmental Medicine & Child Neurology, 2007
Facial naevus flammeus with choroidal haemangioma and without intracranial involvement' SIR-We wo... more Facial naevus flammeus with choroidal haemangioma and without intracranial involvement' SIR-We would like to report a male patient who was noted at birth to have left-sided facial naevus flammeus (port wine stain) involving the left side of the scalp, upper eyelid, and the left side of the nose. Follow-up in the next 6 years did not show any developmental problems, focal neurological deficit, nor seizures. His left eye was found to be hyperaemic over the bulbar conjunctiva. He also had anisometropic hyperoptic astigmatism of the left eye. Fundal examination confirmed the presence of left choroidal haemangioma, mainly in the upper half and posterior pole of the choroid. It was a well circumscribed lesion, slightly raised, bright red in colour, and affecting the left foveal region. The child had no evidence of raised intraocular pressure. The latest follow-up assessment at 6 years recorded visual acuity of 6/5(right eye) and 6/9 (left eye) with glasses correction. He is currently undergoing treatment for left amblyopia.
Developmental Medicine & Child Neurology, 2003
Facial naevus flammeus with choroidal haemangioma and without intracranial involvement' SIR-We wo... more Facial naevus flammeus with choroidal haemangioma and without intracranial involvement' SIR-We would like to report a male patient who was noted at birth to have left-sided facial naevus flammeus (port wine stain) involving the left side of the scalp, upper eyelid, and the left side of the nose. Follow-up in the next 6 years did not show any developmental problems, focal neurological deficit, nor seizures. His left eye was found to be hyperaemic over the bulbar conjunctiva. He also had anisometropic hyperoptic astigmatism of the left eye. Fundal examination confirmed the presence of left choroidal haemangioma, mainly in the upper half and posterior pole of the choroid. It was a well circumscribed lesion, slightly raised, bright red in colour, and affecting the left foveal region. The child had no evidence of raised intraocular pressure. The latest follow-up assessment at 6 years recorded visual acuity of 6/5(right eye) and 6/9 (left eye) with glasses correction. He is currently undergoing treatment for left amblyopia.
Archives of Disease in Childhood, 2002
Archives of Disease in Childhood, 1996
A cross sectional epidemiological study was carried out to investigate the validity of persistent... more A cross sectional epidemiological study was carried out to investigate the validity of persistent nocturnal cough (PNC) as an independent marker of childhood asthma. A screening questionnaire on respiratory symptoms was applied to 4003 children attending primary schools in Aberdeen, after which 799 symptomatic children and a random selection of 229 asymptomatic children were invited to attend for a diagnostic interview. Six hundred and seven (359 boys and 248 girls) symptomatic children and 135 asymptomatic children (57 boys and 78 girls) were selected from the screening questionnaires. Of 607 children with respiratory symptoms when interviewed, 27 (nine boys and 18 girls) had isolated PNC, and 97 (51 boys and 46 girls) had multiple symptoms (polysymptomatic asthma). The incidence of prematurity was highest in the group with PNC (19%). The prevalence of hay fever in children with PNC (11%) was similar to that of the asymptomatic group (15%) and less than that in the group with polysymptomatic asthma (41%). Eczema was twice as common in the PNC (19%) as in the asymptomatic children (10%) but only half as common in the polysymptomatic asthma group (35%). The prevalence of a parental history of hay fever was similar in all three groups. The prevalence of a parental history of eczema was similar in the PNC (7%) and asymptomatic (7%) groups but higher in the polysymptomatic asthma group (22%). The prevalence of a history of parental asthma was 30% in children with PNC, 13% in the asymptomatic group, and 42% in those with polysymptomatic asthma. The parents of three (11%) children with PNC were aware of a diagnosis of asthma; two of these children (7%) were on inhaled bronchodilator treatment and one (4%) was on a slow release theophylline preparation. Using a stepwise discriminant analysis procedure, in 18 (67%) children with PNC predicted membership was in the asymptomatic group and only nine (33%) children with PNC were grouped into the polysymptomatic asthma category. It is concluded that the clinical features of children with PNC resembled those of the asymptomatic population more closely than those of the polysymptomatic asthmatic population. In this age group PNC, in the absence of wheeze, shortness of breath or tightness in the chest, is likely to be a manifestation of atypical or hidden asthma in only a minority of cases.
Archives of Disease in Childhood, 1985
A pair of monozygotic twins discordant for Wiedemann-Beckwith syndrome is described. The probabil... more A pair of monozygotic twins discordant for Wiedemann-Beckwith syndrome is described. The probability of monozygosity is 0.995. This observation suggests that the syndrome is unlikely to be under single gene control and genetic counselling should be based on multifactorial inheritance.
British Medical Journal, 1991
British Medical Journal, 1991
British Medical Journal, 1992
Archives of Disease in Childhood, 2002
Archives of Disease in Childhood, 1985
Archives of Disease in Childhood, 1999
Archives of Disease in Childhood - ARCH DIS CHILD, 2000
Archives of Disease in Childhood, 1996
A cross sectional epidemiological study was carried out to investigate the validity of persistent... more A cross sectional epidemiological study was carried out to investigate the validity of persistent nocturnal cough (PNC) as an independent marker of childhood asthma. A screening questionnaire on respiratory symptoms was applied to 4003 children attending primary schools in Aberdeen, after which 799 symptomatic children and a random selection of 229 asymptomatic children were invited to attend for a diagnostic interview. Six hundred and seven (359 boys and 248 girls) symptomatic children and 135 asymptomatic children (57 boys and 78 girls) were selected from the screening questionnaires. Of 607 children with respiratory symptoms when interviewed, 27 (nine boys and 18 girls) had isolated PNC, and 97 (51 boys and 46 girls) had multiple symptoms (polysymptomatic asthma). The incidence of prematurity was highest in the group with PNC (19%). The prevalence of hay fever in children with PNC (11%) was similar to that of the asymptomatic group (15%) and less than that in the group with polysymptomatic asthma (41%). Eczema was twice as common in the PNC (19%) as in the asymptomatic children (10%) but only half as common in the polysymptomatic asthma group (35%). The prevalence of a parental history of hay fever was similar in all three groups. The prevalence of a parental history of eczema was similar in the PNC (7%) and asymptomatic (7%) groups but higher in the polysymptomatic asthma group (22%). The prevalence of a history of parental asthma was 30% in children with PNC, 13% in the asymptomatic group, and 42% in those with polysymptomatic asthma. The parents of three (11%) children with PNC were aware of a diagnosis of asthma; two of these children (7%) were on inhaled bronchodilator treatment and one (4%) was on a slow release theophylline preparation. Using a stepwise discriminant analysis procedure, in 18 (67%) children with PNC predicted membership was in the asymptomatic group and only nine (33%) children with PNC were grouped into the polysymptomatic asthma category. It is concluded that the clinical features of children with PNC resembled those of the asymptomatic population more closely than those of the polysymptomatic asthmatic population. In this age group PNC, in the absence of wheeze, shortness of breath or tightness in the chest, is likely to be a manifestation of atypical or hidden asthma in only a minority of cases.
Journal of Medical Genetics, 1987
A child with an unbalanced translocation resulting in monosomy for chromosomes 22 (q11----pter) a... more A child with an unbalanced translocation resulting in monosomy for chromosomes 22 (q11----pter) and 3(p25----pter) is described. Although no immunological dysfunction could be demonstrated, the abnormalities found are similar to those seen in the di George syndrome which has been associated with monosomy for the same region of chromosome 22.
European Journal of Pediatrics, 1989
A boy with marked hepatomegaly and motor weakness was investigated for glycogen storage disease. ... more A boy with marked hepatomegaly and motor weakness was investigated for glycogen storage disease. Glycogen accumulation was demonstrated in both liver and muscle and there was a deficiency of phosphorylase b kinase activity. On the basis of biochemical findings, an autosomal recessive mode of inheritance was considered likely, rather than the more common X-linked variant, with primarily liver involvement.
Developmental Medicine & Child Neurology, 2007
Facial naevus flammeus with choroidal haemangioma and without intracranial involvement' SIR-We wo... more Facial naevus flammeus with choroidal haemangioma and without intracranial involvement' SIR-We would like to report a male patient who was noted at birth to have left-sided facial naevus flammeus (port wine stain) involving the left side of the scalp, upper eyelid, and the left side of the nose. Follow-up in the next 6 years did not show any developmental problems, focal neurological deficit, nor seizures. His left eye was found to be hyperaemic over the bulbar conjunctiva. He also had anisometropic hyperoptic astigmatism of the left eye. Fundal examination confirmed the presence of left choroidal haemangioma, mainly in the upper half and posterior pole of the choroid. It was a well circumscribed lesion, slightly raised, bright red in colour, and affecting the left foveal region. The child had no evidence of raised intraocular pressure. The latest follow-up assessment at 6 years recorded visual acuity of 6/5(right eye) and 6/9 (left eye) with glasses correction. He is currently undergoing treatment for left amblyopia.
Developmental Medicine & Child Neurology, 2003
Facial naevus flammeus with choroidal haemangioma and without intracranial involvement' SIR-We wo... more Facial naevus flammeus with choroidal haemangioma and without intracranial involvement' SIR-We would like to report a male patient who was noted at birth to have left-sided facial naevus flammeus (port wine stain) involving the left side of the scalp, upper eyelid, and the left side of the nose. Follow-up in the next 6 years did not show any developmental problems, focal neurological deficit, nor seizures. His left eye was found to be hyperaemic over the bulbar conjunctiva. He also had anisometropic hyperoptic astigmatism of the left eye. Fundal examination confirmed the presence of left choroidal haemangioma, mainly in the upper half and posterior pole of the choroid. It was a well circumscribed lesion, slightly raised, bright red in colour, and affecting the left foveal region. The child had no evidence of raised intraocular pressure. The latest follow-up assessment at 6 years recorded visual acuity of 6/5(right eye) and 6/9 (left eye) with glasses correction. He is currently undergoing treatment for left amblyopia.
Archives of Disease in Childhood, 2002
Archives of Disease in Childhood, 1996
A cross sectional epidemiological study was carried out to investigate the validity of persistent... more A cross sectional epidemiological study was carried out to investigate the validity of persistent nocturnal cough (PNC) as an independent marker of childhood asthma. A screening questionnaire on respiratory symptoms was applied to 4003 children attending primary schools in Aberdeen, after which 799 symptomatic children and a random selection of 229 asymptomatic children were invited to attend for a diagnostic interview. Six hundred and seven (359 boys and 248 girls) symptomatic children and 135 asymptomatic children (57 boys and 78 girls) were selected from the screening questionnaires. Of 607 children with respiratory symptoms when interviewed, 27 (nine boys and 18 girls) had isolated PNC, and 97 (51 boys and 46 girls) had multiple symptoms (polysymptomatic asthma). The incidence of prematurity was highest in the group with PNC (19%). The prevalence of hay fever in children with PNC (11%) was similar to that of the asymptomatic group (15%) and less than that in the group with polysymptomatic asthma (41%). Eczema was twice as common in the PNC (19%) as in the asymptomatic children (10%) but only half as common in the polysymptomatic asthma group (35%). The prevalence of a parental history of hay fever was similar in all three groups. The prevalence of a parental history of eczema was similar in the PNC (7%) and asymptomatic (7%) groups but higher in the polysymptomatic asthma group (22%). The prevalence of a history of parental asthma was 30% in children with PNC, 13% in the asymptomatic group, and 42% in those with polysymptomatic asthma. The parents of three (11%) children with PNC were aware of a diagnosis of asthma; two of these children (7%) were on inhaled bronchodilator treatment and one (4%) was on a slow release theophylline preparation. Using a stepwise discriminant analysis procedure, in 18 (67%) children with PNC predicted membership was in the asymptomatic group and only nine (33%) children with PNC were grouped into the polysymptomatic asthma category. It is concluded that the clinical features of children with PNC resembled those of the asymptomatic population more closely than those of the polysymptomatic asthmatic population. In this age group PNC, in the absence of wheeze, shortness of breath or tightness in the chest, is likely to be a manifestation of atypical or hidden asthma in only a minority of cases.
Archives of Disease in Childhood, 1985
A pair of monozygotic twins discordant for Wiedemann-Beckwith syndrome is described. The probabil... more A pair of monozygotic twins discordant for Wiedemann-Beckwith syndrome is described. The probability of monozygosity is 0.995. This observation suggests that the syndrome is unlikely to be under single gene control and genetic counselling should be based on multifactorial inheritance.