Incidental finding of rare hemoglobin: hemoglobin Bari in northeast Spain.

Objectives: Cation exchange high-performance liquid chromatography (HPLC) is one of the techniques available for determining glycated hemoglobin (HbA) and also the method of choice for structural hemoglobinopathies screening. The objective of this case is to show how in a routine HbA test it is possible to incidentally find a hemoglobinopathy.

Case Presentation: In a routine blood analysis, an abnormal value for the hemoglobin A2 (HbA) was obtained during the study of HbA with HPLC on the ADAMS™ A1c HA-8180T.

AZF gene microdeletions in azoospermic-oligozoospermic males.

Background And Objective: The presence of microdeletions in the Y-chromosome azoospermia factor (AZF) region (YCMs) is considered the most frequent genetic cause of male infertility along with Klinefelter syndrome. The objective of this study was to investigate the frequencies and type of YCMs in infertile men in Aragon and to analyze the relationship between sex hormones, sperm count and microdeletions in them.

Patients And Methods: Retrospective descriptive study of 644 men who during 2006-2019 were screened for YCMs using YChromStrip (Operón, Spain) by PCR+reverse hybridization, spermiogram, karyotype and quantification of sex hormones.

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.