Partial anomalous pulmonary venous drainage associated with 45,X Turner's syndrome

Turner's syndrome has well-described associations with congenital heart disease. Up to one third of patients with karyotype 45,X may have coarctation of the aorta. In addition, patients with hypertrophic cardiomyopathy, septal defects, dextrocardia, and anomalous pulmonary venous drainage have been reported anecdotally. Twenty-one consecutive patients with Turner's syndrome were prospectively evaluated. All patients underwent examination by a pediatric cardiologist, electrocardiogram, chest radiograph, and echocardiogram. Three patients with evidence of right ventricular volume overload had cardiac catheterization. Of 12 patients with karyotype 45,X 3 had partial anomalous pulmonary venous drainage with intact atrial septum. One of the 3 also had moderate aortic stenosis. Two additional patients with 45,X had coarctation of the aorta and bicuspid aortic valve, and 4 other patients had minor cardiac defects. Of 9 patients with mosaic karyotype, 1 had a minor cardiac defect. The observations suggest that there may be a significant association of 45,X Turner's syndrome and partial anomalous pulmonary venous drainage.     

Unusual diagnosis of partial left abnormal pulmonary venous return in neonate]

The authors report on a case of a newborn with partial anomalous pulmonary venous return of the lower left pulmonary vein. Diagnosis was performed during the introduction of a central venous catheter. The complications of partial anomalous pulmonary venous rely principally in the risk of endothelium damage and subsequent pulmonary arterial hypertension.     

Unilateral total and contralateral partial pulmonary agenesis associated with total anomalous pulmonary venous drainage

A term newborn presented with total right and partial left lung agenesis associated with total anomalous obstructed left pulmonary venous drainage. This unique association with a dramatic prognosis is thought to be due to a developmental insult early in the embryonic formation of the lung and its supporting vasculature.     

Growth in children with 45,Xo Turner's syndrome

The growth records of 64 patients with 45,XO chromosome constitution have been analysed. The extremely short stature of adults with this condition (142·5 cm) appears to be due to intrauterine growth failure, to a gradual decline in height velocity in childhood, and to the absence of a pubertal growth spurt. Pubic hair appeared in 68% of patients but was delayed both in relation to chronological age and to bone age. The growth failure is presumably the result of a genetic abnormality in the bones of these patients.Treatment with oestrogens caused development of secondary sex characteristics but did not appear to affect final stature. The age of the patient when treatment was administered was not of significance in affecting the final height of the patients. Despite the reduction in adult height, the correlation between the height of the patients with Turner''s syndrome and their parents was maintained, a roughly constant amount of height being lost through the chromosomal abnormality. This suggests that the genes whose action underlies the variation in adult height among the normal population must be located for the most part on the autosomes.     

Humoral immunity in children with proven bronchiectasis, bronchial deformations and chronic bronchitis

In 70 children with defined chronic chest disease, immunoglobulins, IgG subclass levels and antibody concentrations specific for Haemophilus influenzae b (Hib), and pneumococcal antigen, were related to disease severity. Bronchological examinations revealed 30 children with chronic bronchitis, 21 with bronchial deformations and 19 with bronchiectasis. Of the 70 children 12 (17.1%) showed an underlying immunodeficiency. The commonest finding was an IgG subclass deficiency, 7 were IgG₂ and 1 IgG₃ deficient, followed by IgA deficiency in 3 patients. All patients had normal IgG and IgM levels except one who had immunodeficiency with elevated IgM. Pneumococcal antibody levels were found to increase between patient groups in the order healthy children < chronic bronchitis < bronchiectasis < bronchial deformations (p < 0.01), but this was not the case for Hib antibodies. We found no selective deficiency of pneumococcal and Hib antibodies in our patients. Pathogens were detected in bronchial cultures from 10% of patients with chronic bronchitis, 33% of those with bronchial deformations and in 63% with bronchiectasis. This increase (p < 0.01) reflects a more severe inflammation of the respiratory tract in such patients. However, immunodeficiencies were equally distributed between patient groups. We conclude that only a subgroup of children with chronic chest disease have an underlying immunodefiency, but most patients (83%) do synthesize normal or even high antibodies in the presence of a bacterial load.     

Association of Turner's syndrome and Swyer's syndrome in the same family

We report two phenotypically and genetically different diseases in the same family. One patient presented with Turner phenotype as a result of chromosomal mosaicism 45,X/46,X, inv(X)(q21;q24) (30%/70%). Her father's sister showed 46,XY female gonadal dysgenesis (Swyer's syndrome) as a result of a point mutation in the SRY gene on her Y chromosome. DNA sequencing revealed a G-->C transversion (nucleotide position 693) resulting in a change from glycine95 to arginine (G95R). Here we report for the first time an association of Turner's syndrome and Swyer's syndrome in the same family.     

Scimitar syndrome associated with partial anomalous pulmonary venous connection at the supracardiac,cardiac, and infracardiac levels

Summary A 1-year-old female child was diagnosed to have scimitar syndrome associated with partial anomalous pulmonary venous connection of the right lung at the superior vena cava-right atrial junction, right atrium, and inferior vena cava. To our knowledge, this pattern of pulmonary venous connection has not been previously described in this syndrome.     

先天性心脏病并重症肺动脉高压的性质评价

根据上海市两个区活产婴儿前瞻性调查 ,先天性心脏病(先心病 )发病率为 6 .78‰ ,估计我国每年新出生先心病患儿达 15万左右。其中肺动脉高压 (PH)为左向右分流型先心病及部分复杂性重症先心病常见和严重并发症之一 ,如不及时治疗 ,将发展成器质性PH ,直接影响病人预后及外科手术效果或介入治疗指征的选择。发达国家由于对这些病人早期进行手术治疗 ,发展成重症PH少见 ,而我国由于地域广阔 ,经济发展不平衡 ,虽然近年小儿心血管诊断与治疗获长足的进展 ,但我国还有为数不少伴重症PH病人未能得到及时治疗 ,以致影响治疗效果或失去手术机…     

Ultrastructural abnormalities of bronchial cilia in children with recurrent airway infections and bronchiectasis.

Anomalies of the bronchial cilia were studied in 5 children with recurrent pulmonary infections. Case 1 had Kartagener''s syndrome and an absence of the inner and outer dynein arms in most cilia, although a few shortened and even some normal arms could be seen. Cases 2 and 3 had unilateral bronchiectasis without family history of Kartagener''s syndrome. Serial studies of the bronchial epithelium at times showed a bilateral lack of the inner dynein arms and a partial lack of outer arms. These abnormalities persisted in these 2 children after they had recovered from the acute pulmonary infection but disappeared after 6-8 months of antibiotic treatment. Cases 4 and 5 had recurrent pulmonary infections without bronchiectasis and many shortened outer dynein arms could be seen, but these anomalies disappeared after recovery. In all 5 children such architectural ciliary anomalies were present as megacilia, fused cilia, naked cilia, and completely disorganised axonemas. These architectural defects were particularly numerous in the children without bronchiectasis. Our observations suggest that anomalies of the bronchial ciliary microtubular system may not only be congenital but may also be acquired; this might well help to explain some cases of repeated respiratory tract infection and bronchiectasis.     

Growth hormone in short,slowly growing children and those with Turner's syndrome.

Results of an aborted placebo controlled trial of treatment with human pituitary growth hormone in children with Turner''s syndrome and short, slowly growing children are reported. One child in each group had a considerable reduction in growth rate standard deviation score while taking growth hormone. The remaining eight patients with Turner''s syndrome and 10 short, slowly growing patients who received growth hormone showed mean rises in growth rate of greater than two standard deviation scores. Neither placebo group showed a mean increase in growth rate standard deviation score. These differences were significant.     

A report of 2 cases of Turner's syndrome with a ring X chromosome]

The authors report two cases of Turner syndrome with clinical evidence of only primitive hypogonadism and short stature. Karyotype analysis showed X ring mosaicism which is present only in 5% of cases of Turner syndrome. The authors agree with the hypothesis suggesting no relationship between break points on the X chromosome and phenotypical aspect. An earlier diagnosis is auspicious so that, using correct therapy, final height should be improved.