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71.
In five patients, aged 4 days to 20 months, the left pulmonary artery was inadvertently ligated at the time of attempted closure of the patent ductus arteriosus. The complication was recognized in these patients between 1 day and 5 years later from findings of chest radiography, two-dimensional echocardiography with spectral analysis of Doppler shifted echoes, and angiography. In three patients, the presence of asymmetric pulmonary blood flow on chest radiographs obtained after surgery initially suggested the diagnosis. In the other two patients with bronchopulmonary dysplasia, the diagnosis was made by means of two-dimensional echocardiography and Doppler spectra in one and angiography in the other. On angiograms, the left pulmonary artery distal to the ligation was visualized by delayed opacification from aortic collaterals in three patients and by means of pulmonary venous wedge injection in one. Radiographic and echocardiographic examination with Doppler spectra may permit prompt diagnosis and early correction of this complication. 相似文献
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磷酸二酯酶5(PDE5)影响环磷酸鸟苷(cGMP)维持血管平滑肌紧张性的生理学效应,在阴茎海绵体的静脉系统和肺血管系统中尤为明显。 相似文献
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G Zaidi RP Sahu L Zhang G George N Bhavani N Shah V Bhatia A Bhansali G Jevalikar RV Jayakumar GS Eisenbarth E Bhatia 《Clinical genetics》2009,76(5):441-448
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare recessive disorder resulting from mutations in the autoimmune regulator ( AIRE ) gene. There is no information on AIRE mutations in Indians. In a cross-sectional study, nine patients (eight families), from four referral hospitals in India, were studied for AIRE mutations by direct sequencing. We screened for new mutations in 150 controls by allele-specific PCR. The patients had 1–7 known components of APECED. Three patients had unusual manifestations: presentation with type 1 diabetes; chronic sinusitis and otitis media; and facial dysmorphism. All patients carried homozygous, probably recessive, AIRE mutations. Two unrelated patients from a small in-bred community (Vanika Vaisya) in south India carried an unreported missense mutation, p.V80G, in the N-terminal caspase recruitment domain. Another unique mutation, p.C302X, resulting in a truncated protein with deletion of both zinc-finger domains, was detected in a patient from Gujarat. Neither mutation was detected in controls. Other mutations, previously described in Caucasians, were: 13 base pair deletion (p.C322fsX372) in 4 (38%), and Finn-major (p.R257X) and p.R139X (Sardinian) mutation in one subject each. In conclusion, in this first series of APECED in Indians, we detected AIRE mutations previously reported in Caucasians, as well as unique mutations. Of these, p.V80G is possibly an ancestral mutation in an in-bred community. 相似文献
78.
Evolving approach to the varicocele 总被引:1,自引:0,他引:1
The varicocele is the most common cause of male infertility world wide. Varicoceles have been found in 15% of the normal male population and in up to 40% of patients with male infertility. In approximately 70% of patients with secondary infertility, a varicocele is an underlying cause. Understanding of the pathophysiology, treatments, and outcomes of a varicocele and varicocele repair has evolved significantly over the past several decades. Our goal is to discuss the approach to its diagnosis and treatment that has evolved. 相似文献
79.
Association of the steroid synthesis gene CYP11a with polycystic ovary syndrome and hyperandrogenism 总被引:12,自引:0,他引:12
Gharani N; Waterworth DM; Batty S; White D; Gilling-Smith C; Conway GS; McCarthy M; Franks S; Williamson R 《Human molecular genetics》1997,6(3):397-402
Biochemical data implicate an underlying disorder of androgen biosynthesis
and/or metabolism in the aetiology of polycystic ovary syndrome (PCOS). We
have examined the segregation of the genes coding for two key enzymes in
the synthesis and metabolism of androgens, cholesterol side chain cleavage
(CYP11a) and aromatase (CYP19), with PCOS in 20 multiply-affected families.
All analyses excluded CYP19 cosegregation with PCOS, demonstrating that
this locus is not a major determinant of risk for the syndrome. However,
our results provide evidence for linkage to the CYP11a locus (NPL score =
3.03, p = 0.003). Parametric analysis using a dominant model suggests
genetic heterogeneity, generating a maximum HLOD score of 2.7 (alpha =
0.63). An association study of 97 consecutively identified Europids with
PCOS and matched controls demonstrates significant allelic association of a
CYP11a 5' UTR pentanucleotide repeat polymorphism with hirsute PCOS
subjects (p = 0.03). A strong association was also found between alleles of
this polymorphism and total serum testosterone levels in both affected and
unaffected individuals (p = 0.002). Our data demonstrate that variation in
CYP11a may play an important role in the aetiology of hyperandrogenaemia
which is a common characteristic of polycystic ovary syndrome.
相似文献
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