Development and validation of an improved classification and risk stratification system for carotid body tumors: Multinational collaborative cohort study.

Background: This study aims to develop and validate a new classification system that better predicts combined risk of neurological and neurovascular complications following CBT surgery, crucial for treatment decision-making.

Methods: Multinational retrospective cohort study with 199 consecutive cases. A cohort of 132 CBT cases was used to develop the new classification.

[Rupture of abdominal aortic aneurysm into the duodenum: uncommon cause of massive gastrointestinal bleeding].

Primary aortoenteric fistula is the spontaneous communication between the lumen of the aorta and a portion of the digestive tract. The most common cause is the erosion of an abdominal aortic aneurysm into the 3rd or 4th portion of the duodenum. It manifests clinically as gastrointestinal bleeding, with or without abdominal pain and a pulsatile abdominal mass on physical exam.

Higher Prevalence of Bovine Aortic Arch Configuration in Patients Undergoing Blunt Isthmic Aortic Trauma Repair.

Background: The prevalence of a bovine aortic arch configuration is higher in patients treated for thoracic aortic aneurysms and type B dissection; its prevalence in aortic isthmic trauma has not been described.

Methods: A case control study was performed comparing consecutive patients treated at our institution for acute isthmic aortic transection after blunt trauma between 2002 and 2019 and a control group of consecutive sex-matched individuals undergoing imaging for nonaortic disease. Imaging and clinical findings were reviewed.

Two Cases of Popliteal Cystic Adventitial Disease Treated with Primary Stenting: Long-Term Results.

The cystic adventitial disease of the popliteal artery is an uncommon cause of intermittent claudication in young patients. Several treatment options are available, oriented to either drainage of the cyst and/or arterial reconstruction. Endovascular techniques have been exceptionally used to treat this condition, with mixed results.

Metformin for the treatment of hyperandrogenism in adolescents with type 1 diabetes mellitus.

Background: A high prevalence of hyperandrogenism has been reported in women with type 1 diabetes (T1D). Metformin has been used as a therapeutic agent in patients with polycystic ovarian syndrome and in T1D patients without hyperandrogenism. This study sought to determine the effect of metformin on hyperandrogenism and ovarian function in adolescents with T1D.

Ovulation rate in adolescents with type 1 diabetes mellitus.

Objective: To study ovulation in adolescents with type 1 diabetes (T1D) and the effect of hemoglobin A1c (HbA1c) levels on their ovulatory function.

Design: Prospective investigation.

Setting: Academic research institute.

Carotid intima-media thickness as a cardiovascular risk marker in pediatric end-stage renal disease patients on dialysis and in renal transplantation.

Cardiovascular diseases are the principal cause of morbidity and mortality among young adults with chronic renal disease. Atherosclerotic structural changes as detected by high-resolution B-mode ultrasonography preceed clinical findings by several decades. The carotid intima-media thickness (cIMT) is being used as a marker of early atherosclerosis.

Adiponectin serum levels and their relationships to androgen concentrations and ovarian volume during puberty in girls with type 1 diabetes mellitus.

Aim: To study the adiponectin levels during puberty in girls with type 1 diabetes mellitus (DM1) and their relationship to body mass index (BMI), Tanner stage, ovarian volume (OV), and androgen levels.

Methods: We studied adiponectin and testosterone levels and OV in 56 pubertal girls with DM1 and in 59 healthy girls serving as controls. The effects of DM1, BMI standard deviation scores (BMI SDS), testosterone, and OV over adiponectin levels were assessed.

Ponderal gain, waist-to-hip ratio, and pubertal development in girls with type-1 diabetes mellitus.

Objectives: We assessed pubertal development, height, weight, and waist-to-hip ratio (WHR), an index of central adiposity during puberty, in girls with type-1 diabetes mellitus (T1DM), compared to a contemporary control group.

Methods: Pubertal development, weight, height and WHR were studied in 100 pubertal girls with T1DM, and were compared to a control group of 576 normal girls (C), recruited from schools with a similar socioeconomic level and ethnicity. The age of onset of various pubertal stages was estimated by using probit analysis.

Y chromosome sequences in Turner's syndrome: association with virilization and gonadoblastoma.

Unlabelled: The presence of Y chromosome fragments in patients with Turner's syndrome is known to increase the risk of gonadoblastoma and virilization. Y chromosome material is detected in up to 6% of patients with Turner's syndrome by karyotype. By DNA analysis, Y chromosome sequences have been reported in 0-60% of patients.

Mutations in the CYP21 B gene in a Chilean population with simple virilizing congenital adrenal hyperplasia.

Steroid 21-hydroxylase deficiency (21OHD) compromises about 95% of all cases of congenital adrenal hyperplasia. We have characterized the disease-causing mutations in the steroid 21-hydroxylase genes of 19 Chilean patients (12 females and 7 males) with the simple virilizing (SV) form of 21OHD and compared them with other SV-populations. Using allele-specific polymerase chain reaction, we identified lesions in 28 chromosomes out of 38 tested (73.

A novel homozygous nonsense mutations E135* in the type II 3beta-hydroxysteroid dehydrogenase gene in a girl with salt-losing congenital adrenal hyperplasia. Mutations in brief no. 168. Online.

Mutations in the 3beta-hydroxysteroid dehydrogenase (3beta-HSD) type II gene have been reported in a small number of affected females. We report a 46,XX girl born to consanguineous parents from Chile. At birth, she had normal but hyperpigmented female external genitalia.

Salt-wasting congenital adrenal hyperplasia: detection of mutations in CYP21B gene in a Chilean population.

The steroid 21-hydroxylase deficiency (21OHD) is the most frequent cause of congenital adrenal hyperplasia. We have characterized the disease-causing mutations in the 21-hydroxylase genes of 63 patients with salt-wasting congenital adrenal hyperplasia from a Chilean population of Hispanic origin, a group that has been scarcely evaluated. Using allele-specific PCR, lesions were identified in 97 chromosomes out of 126 tested (77%).

[Molecular diagnosis of salt wasting congenital adrenal hyperplasia, caused by deficit of 21-hydroxylase, in the Chilean population].

Background: The most frequent cause of congenital adrenal hyperplasia, manifested as virilization and salt wasting, is the deficit of 21-hydroxylase. This disease is originated by mutations of the gene CYP21 that codifies this enzyme, mostly recombination between this gene and its inactive pseudogene called CYP21P.

Aim: To study the molecular origin of this enzyme deficiency in Chilean patients.

[Delayed puberty and hypogonadotrophic hypogonadism: differential diagnosis with prolactin stimulation probe with chlorpromazine].

We studied the changes in plasma levels of prolactin after an intramuscular injection of 0.33 mg/kg chlorpromazine and changes in plasma levels of LH and FSH after the injection of 100 micrograms iv GnRH, in 16 patients with delayed puberty, 10 patients with hypogonadotrophic hypogonadism and 6 healthy controls. Prolactin response was significantly lower in patients with hypogonadotrophic hypogonadism compared to subjects with constitutional delayed and healthy controls (delta Prolactin 7.

Zinc supplementation increases growth velocity of male children and adolescents with short stature.

We assessed the effect of zinc supplementation on growth velocity in 79 children and adolescents (48 males, 38 females) with idiopathic short stature. Their height-for-age was < 5th percentile (NCHS standards) and their weight-for-age was normal. Patients were assigned randomly to a supplemented group (S) to receive Zn 10 mg/day or to a placebo (P) group, according to gender and age, and were followed-up for 12 months using a double-blind design.