Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder characterized by 3 overlapping phenotypes: salt-wasting (SW), simple virilizing (SV), and non-classic (NC). We aimed at conducting a nationwide genotype description of the CAH pediatric patients and to establish their genotype–phenotype correlation. Methods: CAH patients were recruited from Portuguese pediatric endocrinology centers and classified as SW, SV, or NC. Genetic analysis was performed by polymerase chain reaction (sequence specific primer, restriction fragment length polymorphism) or direct Sanger sequencing. Genotypes were categorized into 4 groups (0, A, B, and C), according to their predicted enzymatic activity. In each group, the expected phenotype was compared to the observed phenotype to assess the genotype–phenotype correlation. Results: Our cohort comprises 212 unrelated pediatric CAH patients (29% SW, 11% SV, 60% NC). The most common pathogenic variant was p.(Val282Leu; 41.3% of the 424 alleles analyzed). The p.(Val282Leu) variant, together with c.293-13A/C>G, p.(Ile173Asn), p.(Leu308Thr), p.(Gln319*), and large deletions/conversions were responsible for 86.4% of the mutated alleles. Patients’ stratification by disease subtype revealed that the most frequent pathogenic variants were c.293-13A/C>G in SW (31.1%), p.(Ile173Asn) in SV (46.9%), and p.(Val282Leu) in NC (69.5%). The most common genotype was homozygosity for p.(Val282Leu; 33.0%). Moreover, we found 2 novel variants: p.(Ile161Thr) and p.(Trp202Arg), in exons 4 and 5, respectively. The global genotype-phenotype correlation was 92.4%. Group B (associated with the SV form) showed the lowest genotype–phenotype correlation (80%). Conclusion: Our cohort has one of the largest NC CAH pediatric populations described. We emphasize the high frequency of the p.(Val282Leu) variant and the very high genotype–phenotype correlation observed.
Purpose To describe the early results and mid-term patency rates of external iliac artery (EIA) stenting using self-expanding covered stents. Methods We conducted a multicenter retrospective study (2015–2021), including patients receiving primary endovascular treatment of external iliac artery occlusive disease with self-expanding covered stents. All patients were treated with the Viabahn (W.L Gore & Associates, Inc., Flagstaff, AZ–USA) stent. Patency and limb salvage rates were estimated with Kaplan–Meier curves. Results Ninety-three patients (mean age, 69 ± 9 years; 81% males) were treated for disabling claudication in 44%, rest pain in 28%, and tissue loss in 28%. TASC C/D lesions were present in 72% and iliac complete occlusion in 30%. Mean lesion length was 6.9 ± 2.4 cm; 30% had moderate/severe EIA calcifications; and the mean iliac tortuosity index was 1.17 ± 0.13. Technical success was 100%. There was one perioperative death (1.4%) and procedural complication rate was 6.5%. At 42 months (mean, 25 months), primary patency was 89.8% (95%CI 83–98); the presence of EIA tortuosity (tortuosity index > 1.25, 87.7 ± 11% vs 89.9 ± 8%; P = .6) or severe calcifications (87.6 ± 9% vs 96.0 ± 8%; P = .400) had no significant impact. After univariate analysis, the use of a stent with diameter < 8 mm (HR 8.5, 95%CI 3.24–14.22; P < .001) was negatively associated with primary patency. Conclusions The use of self-expanding covered stents provided excellent early and mid-term results in the treatment of obstructive disease of the EIA, also in cases of high EIA tortuosity and high grade of calcifications. The use of a < 8 mm-diameter stent was associated with a reduced primary patency.
Objective the aim of this study was to assess the results of mechanochemical endovenous ablation either in the primary or recurrent saphenous vein insufficiency, including only patients with veno-venous shunt type III. Methods retrospective analysis of a prospective study of patients with symptomatic chronic venous insufficiency who underwent ClariVein® technique. A total of 134 saphenous veins were included between August 2017 and August 2018. Follow-up was performed by Duplex ultrasound at 1, 6 and 12 months. Primary endpoints were technical and anatomical success. Secondary endpoints were the need for further treatment of varicose collateral veins by sclerotherapy, outcomes regarding recurrent insufficiency and clinical success. Results A total of 111 great saphenous veins and 23 small saphenous veins were treated with a technical success of 95.6%. The overall anatomical success rates at 1, 6 and 12 month were 96.2%, 88.8% and 84.4%, respectively, without differences between primary and recurrent insufficiency. Deferred sclerotherapy over varicose collaterals was carried out in 28% of the patients with anatomical success. Clinical improvement was achieved in 87.3%. Conclusions MOCA technique has proven to be an effective technique, although additional treatment over varicose collaterals could be necessary in up to one-third. Atrophy of the saphenous vein and the lack of persistent varicose collateral veins during follow-up seem to be indicators of successful therapy.
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