A novel variant in the gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease.

Objectives: Patients with Alport syndrome develop progressive kidney function deterioration, sensorineural hearing loss, and ocular abnormalities. This condition is caused by mutations in (X-linked inheritance), and (autosomal dominant or recessive inheritance), and encoding type IV collagen α3, α4, and α5, respectively. If left untreated, clinical symptoms progress from microscopic hematuria to proteinuria, progressive kidney failure, and end-stage kidney disease.

A study of crystalluria: effectiveness of including hygienic-dietary recommendations in laboratory reports.

Objectives: To assess the effectiveness of incorporating hygienic-dietary recommendations in laboratory reports in reducing the incidence of renal colic (RC). A study was performed to compare the incidence of RC in two groups of patients who had suffered at least a crystalluria event associated with the risk of urolithiasis. Recommendations were only incorporated in the laboratory reports of one group.

A variant of the gene detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years.

Objectives: Describe a case with axonal Charcot-Marie-Tooth (CMT) type 2W, a neurological disease characterized by peripheral neuropathy typically involving the lower limbs and causing gait alterations and distal sensory-motor impairment.

Case Presentation: We report this case, where the application of massive genetic sequencing (NGS) with clinical exome in a molecular genetics laboratory enabled to detect the presence of candidate variants of the clinic of the patient.

Conclusions: The variant detected in gene suggests that this variant could be causative of the symptoms of the patient, who went undiagnosed for 20 years and experienced an exacerbation of symptoms over time.

Magnesium concentration in amniotic fluid in the early weeks of the second trimester of pregnancy.

Background: We analyse magnesium levels in amniotic fluid to establish normal values for the 14th to 18th week of pregnancy and establish critical values that could be useful diagnostic and therapeutic guidelines for possible complications.

Findings: Ninety-two samples of amniotic fluid obtained by amniocentesis as well as the corresponding serum samples of pregnant women were analysed. The gestational age (mean ± SD) at which the amniotic fluid sample was obtained was 16.

Thyroid hormones according to gestational age in pregnant Spanish women.

Background: Thyroid function changes during pregnancy and maternal thyroid dysfunction have been associated with adverse outcomes. Our aim was to evaluate thyroid hormones levels in pregnant women resident in Aragon, Spain.

Findings: Samples for 1198 pregnant women with no apparent thyroid disorders were analyzed, using paramagnetic microparticle and chemiluminescent detection technologies, in order to determine levels of thyroid stimulating hormone (TSH), free triiodothyronine (FT3), free thyroxine (FT4), thyroid peroxidase antibodies (TPO-Ab), and thyroglobulin antibodies (Tg-Ab).

[Evaluation of urinary cortisol levels in women with fibromyalgia].

Objective: We propose a comparative study of urinary cortisol in a controlled simple group of patients diagnosed with fibromyalgia (FM) during a minimum time frame (3 years) vs. a normal group with the same characteristics of age and gender. Our objective is to demonstrate if urinary cortisol at lower levels than those found in the normal population, as long as FM is regarded, could help to evaluate the fatigue.

Is there an association between fibromyalgia and below-normal levels of urinary cortisol?

Background: Adynamia in fibromyalgia (FM) may be an expression of a functional deficit of the hypothalamic-pituitary-adrenal axis and be associated with below-normal levels of urinary cortisol. Our aim was to demonstrate that urinary cortisol was lower in patients with FM than in healthy subjects.

Findings: We measured urinary cortisol levels for a sample of 47 women aged 29 to 64 years (mean age 53 years), diagnosed with FM 2-3 years previously, and compared the results with those for a control sample of 58 healthy women of a similar age.