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. Methods: A retrospective observational study. The study sample was composed of patients who had at least an episode of crystalluria associated with a higher risk of urolithiasis. The laboratory reports of patients in Group A (n=1,115), treated in 2017, did not include any hygienic-dietary recommendations, whereas patients in Group B (n=1,692), treated in 2018, received hygienic-dietary recommendations through their laboratory reports. χ2 and Mann-Whitney U test were used to assess differences based on sex, age, and type of urinary crystals. Results: The incidence of RC was 2.02 times higher in group A (2.24%) than in group B (1.12%). No significant differences were observed in the incidence of RC based on the type of urinary crystal. The incidence of RC was substantially higher in patients who suffered at least an event of crystalluria associated with a higher risk for urolithiasis as compared to the general population during the same period (0.46%, consistently with the incidence rates reported in the literature). Conclusions: The incorporation of messages alerting on the risk of urolithiasis and the inclusion of hygienic-dietary recommendations in laboratory reports may be useful for reducing the incidence of RC.

A novel variant in the COL4A3 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 COL4A5 (X-linked inheritance), COL4A3 and COL4A4 (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. At present, kidney transplantation is the only effective approach. Next-generation sequencing is the method of choice for the diagnosis of this condition. Case presentation: We report the case of a young man with chronic kidney disease who eventually underwent transplantation. Molecular testing made it possible to determine the etiology of his clinical symptoms and autosomal recessive Alport syndrome type 2. The patient was found to be a compound heterozygote for two missense variants (trans configuration) in the COL4A3 gene: A likely pathogenic variant c.4981C>T (p.Arg1661Cys) in exon 52 inherited from the mother (described elsewhere), and another variant of uncertain significance, c.943G>A (p.Gly315Ser), in exon 17 inherited from the father that has not been previously reported in the literature or found in relevant databases. Conclusions: Following genetic confirmation, genetic counseling was provided to the patient and his direct relatives.

A variant of the gene HARS 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 HARS 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.

[Evaluation of urinary cortisol levels in women with fibromyalgia]. / Evaluación de la cortisoluria en mujeres diagnosticadas de fibromialgia.

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. METHODS: We determined the urinary cortisol in a group of 47 women with a clinical diagnosis of FM using the criteria from the American College of Rheumatology (ACR) 1990, with ages between 29 and 64 years, in whom an accurate sample was collected and cortisol was determined using an FPIA method. The results were compared with the urinary cortisol obtained in a group of 88 healthy women within the same age range as those with FM. RESULTS: Urinary cortisol in FM was 65.0 microg/l (median), which was significantly lower than that of the healthy group (80.0 microg/l), p<0.001. CONCLUSION: 33.4% of patients with FM displayed urinary cortisol concentrations significantly lower than the group of women without FM.

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 16.13 ± 1.87 weeks. Magnesium levels were determined by colorimetric assay with chlorophosphonazo-III using the the Cobas c 501 analyser (Roche Diagnostics). Statistical treatment of data was performed using the SPSS program, version 15.0.Results revealed a mean magnesium value of 1.65 ± 0.16 mg/dL in amniotic fluid and 1.97 ± 0.23 mg/dL in serum. CONCLUSIONS: It would be interesting to extend the study to a larger number of pregnant women to determine variations in normal magnesium values in the three trimesters of pregnancy.

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). Of the women in our sample, 85.22% had normal values for TPO-Ab and Tg-Ab and 14.77% had results revealing the presence of autoimmune diseases of the thyroid. The thyroid hormone reference values obtained according to gestational age (in brackets) were as follows: for free T3, values were 3.38 +/- 0.52 pg/mL (<11 weeks), 3.45 +/- 0.54 pg/mL (11-20 weeks), 3.32 +/- 0.43 pg/mL (21-30 weeks), 3.21 +/- 0.53 pg/mL (31-36 weeks), and 3.23 +/- 0.41 pg/mL (>36 weeks); for free T4, values were 1.10 +/- 0.14 ng/dL (<10 weeks), 1.04 +/- 0.14 ng/dL (11-20 weeks), 0.93 +/- 0.12 ng/dL (21-30 weeks), 0.90 +/- 0.13 ng/dL (31-36 weeks), and 0.80 +/- 0.21 ng/dL (>36 weeks); and for TSH, values were (muIU/mL): 1.12 +/- 0.69 (<10 weeks), 1.05 +/- 0.67 (11-20 weeks), 1.19 +/- 0.60 (21-30 weeks), 1.38 +/- 0.76 (31-36 weeks), and 1.46 +/- 0.72 (>36 weeks). CONCLUSION: Pregnant women with normal antibody values according to gestational age had values for FT4 and TSH, but not for FT3, that differed to a statistically significant degree. The values we describe can be used as reference values for the Aragon region of Spain.

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. Samples of 24-hour urine were appropriately collected and levels of urinary cortisol were measured using the fluorescence polarization immunoassay method. The mean cortisol value for the women with FM was 65.40 +/- 27.10 mug/L, significantly lower than the mean cortisol level for the control group, at 90.83 +/- 38.17 mug/L (p < 0.001). CONCLUSION: Our study confirms that women with FM have significantly lower urinary cortisol levels than healthy women.