Objective: To investigate the incidence of hypermobility in infants at the age of three months. Method: Eighty-one healthy infants aged three months were examined using the Beighton score. The spine was excluded for p...Objective: To investigate the incidence of hypermobility in infants at the age of three months. Method: Eighty-one healthy infants aged three months were examined using the Beighton score. The spine was excluded for practical reasons;due to this the highest possible Beighton score for the participants in this study was 8. Also ankle dorsiflexion and the big toe were examined. Results: The mean score on the Beighton scale was 2.7;median was 2.0 and the range was 0 to 6. Almost half of the infants scored at least 4 on the Beighton scale. T test showed no gender difference. Neither was there any difference between right and left sides. Conclusions: Infants at the age of three months have high mobility in the distal joints, ankle dorsiflexion, thumb and little finger. It is rare to find hypermobility in elbows and knees at this age.展开更多
Objectives: The basic mechanisms of cervical incompetence remain unknown although preliminary histological, biochemical and DNA studies suggest connective tissue pathology may be a contributing factor. Certain connect...Objectives: The basic mechanisms of cervical incompetence remain unknown although preliminary histological, biochemical and DNA studies suggest connective tissue pathology may be a contributing factor. Certain connective tissue disorders are known to be associated with obstetric complications. Utilising a standardised established scoring system for connective tissue laxity, this study aimed to test the relationship between clinical evidence of connective tissue laxity and cervical incompetence. Methods: This case-control study involved pregnant and non-pregnant women with a history of mid-trimester pregnancy loss in the absence of major bleeding, infection and uterine abnormalities and a control group of women with uncomplicated obstetric histories. Relevant medical details were obtained. Connective tissue laxity was assessed utilizing the Beighton scoring system. Potential confounding factors, including age, pregnancy and gestation were explored. Results: The frequency of connective tissue laxity between the cases [n = 29] was not statistically different from the controls [n = 58] [p = 0.391] suggesting a lack of association between cervical incompetence and clinical evidence of connective tissue laxity. Conclusion: Although no clear evidence of connective tissue laxity was demonstrated, it is possible that cervical incompetence is associated with abnormal connective tissue. But this abnormality is different from the defect that underlies joint hypermobility and skin elasticity.展开更多
Ehlers-Danlos syndrome(EDS)is a heterogeneous group of connective tissue disorders comprised of several types.Classic EDS is an autosomal dominant disorder with stretchable skin,delayed wound healing with poor scarrin...Ehlers-Danlos syndrome(EDS)is a heterogeneous group of connective tissue disorders comprised of several types.Classic EDS is an autosomal dominant disorder with stretchable skin,delayed wound healing with poor scarring,joint hypermobility with subluxations or dislocations,easy bruisability,hernias,aneurysms and cardiac abnormalities.Advances in genomics technology using next-generation sequencing has led to the discovery of causative genes for connective tissue disorders,hereditary cardiomyopathies and cardiovascular diseases including several genes for connective tissue disorders.A 55 year-old male exhibited thin stretchable skin,atrophic scars,easy bruising,joint pain and dislocations requiring multiple knee surgeries and a Beighton hyperflexibility score of 6 out of 7.He was found to have a heterozygous missense COL5A1 gene variant involving exon 3 at nucleotide c:305T>A with an amino acid position change at p.lle102Asn consistent with classic EDS.He had a heart transplant at 43 years of age due to cardiac failure of unknown cause.This patient with classic EDS is brought to medical attention and should be of interest to cardiologists,heart transplant specialists and surgeons,particularly in individuals with unexplained cardiac failure and then diagnosed prior to surgical intervention to avoid poor wound healing,scarring and other tissue involvement(e.g.,vascular anomalies,blood pressure instability,aneurysms)as components of EDS.展开更多
文摘Objective: To investigate the incidence of hypermobility in infants at the age of three months. Method: Eighty-one healthy infants aged three months were examined using the Beighton score. The spine was excluded for practical reasons;due to this the highest possible Beighton score for the participants in this study was 8. Also ankle dorsiflexion and the big toe were examined. Results: The mean score on the Beighton scale was 2.7;median was 2.0 and the range was 0 to 6. Almost half of the infants scored at least 4 on the Beighton scale. T test showed no gender difference. Neither was there any difference between right and left sides. Conclusions: Infants at the age of three months have high mobility in the distal joints, ankle dorsiflexion, thumb and little finger. It is rare to find hypermobility in elbows and knees at this age.
文摘Objectives: The basic mechanisms of cervical incompetence remain unknown although preliminary histological, biochemical and DNA studies suggest connective tissue pathology may be a contributing factor. Certain connective tissue disorders are known to be associated with obstetric complications. Utilising a standardised established scoring system for connective tissue laxity, this study aimed to test the relationship between clinical evidence of connective tissue laxity and cervical incompetence. Methods: This case-control study involved pregnant and non-pregnant women with a history of mid-trimester pregnancy loss in the absence of major bleeding, infection and uterine abnormalities and a control group of women with uncomplicated obstetric histories. Relevant medical details were obtained. Connective tissue laxity was assessed utilizing the Beighton scoring system. Potential confounding factors, including age, pregnancy and gestation were explored. Results: The frequency of connective tissue laxity between the cases [n = 29] was not statistically different from the controls [n = 58] [p = 0.391] suggesting a lack of association between cervical incompetence and clinical evidence of connective tissue laxity. Conclusion: Although no clear evidence of connective tissue laxity was demonstrated, it is possible that cervical incompetence is associated with abnormal connective tissue. But this abnormality is different from the defect that underlies joint hypermobility and skin elasticity.
基金the National Institute of Child Health and Human Development,No.HD02528。
文摘Ehlers-Danlos syndrome(EDS)is a heterogeneous group of connective tissue disorders comprised of several types.Classic EDS is an autosomal dominant disorder with stretchable skin,delayed wound healing with poor scarring,joint hypermobility with subluxations or dislocations,easy bruisability,hernias,aneurysms and cardiac abnormalities.Advances in genomics technology using next-generation sequencing has led to the discovery of causative genes for connective tissue disorders,hereditary cardiomyopathies and cardiovascular diseases including several genes for connective tissue disorders.A 55 year-old male exhibited thin stretchable skin,atrophic scars,easy bruising,joint pain and dislocations requiring multiple knee surgeries and a Beighton hyperflexibility score of 6 out of 7.He was found to have a heterozygous missense COL5A1 gene variant involving exon 3 at nucleotide c:305T>A with an amino acid position change at p.lle102Asn consistent with classic EDS.He had a heart transplant at 43 years of age due to cardiac failure of unknown cause.This patient with classic EDS is brought to medical attention and should be of interest to cardiologists,heart transplant specialists and surgeons,particularly in individuals with unexplained cardiac failure and then diagnosed prior to surgical intervention to avoid poor wound healing,scarring and other tissue involvement(e.g.,vascular anomalies,blood pressure instability,aneurysms)as components of EDS.
