Hypokalemic metabolic alkalosis: apropos of a case of Gitelman's syndrome

We present a case of Gitelman's Syndrome in a 20 year-old woman who came to our service with weakness, asthenia, leg cramps and tetany. Laboratory studies revealed metabolic alkalosis with hypokalemia, hypomagnesemia and low calcium in a 24-hour urine test. The diagnosis of this syndrome is made in some cases during adult life because this syndrome is asymptomatic over several years. Gitelman's Syndrome is autosomal recessive as is Bartter's Syndrome. The gene is located in chromosome 16q, which encodes the cotransporter Na/Cl sensitive to thiazide in the distal convoluted tubule. The defect of cotransporter produces an alteration of sodium reabsorption that causes electrolytic disorders typical of this Syndrome and different from Bartter's Syndrome. The typical electrolytic alterations are hypocalciuria and hypomagnesemia secondary to high urinary magnesium excretion. The prognosis of this syndrome is excellent and treatment consists in correction of serum electrolytes with oral administration of magnesium and potassium. In spite of this treatment, in some cases it is very difficult to reach normal serum levels of magnesium because of the high doses of oral magnesium, which produce common crises of diarrhea that increase magnesium gastrointestinal losses.     

Systemic inflammation after inspiratory loading in chronic obstructive pulmonary disease

Objective

Patients with chronic obstructive pulmonary disease (COPD) present systemic inflammation. Strenuous resistive breathing induces systemic inflammation in healthy subjects. We hypothesized that the increased respiratory load that characterizes COPD can contribute to systemic inflammation in these patients.

Patients and methods

To test this hypothesis, we compared leukocyte numbers and levels of circulating cytokines (tumor necrosis factor alpha [TNFα], interleukin-1β [IL-1β], IL-6, IL-8, and IL-10), before and 1 hour after maximal incremental inspiratory loading in 13 patients with stable COPD (forced expiratory volume in one second [FEV₁] 29 ± 2.5% ref) and in 8 healthy sedentary subjects (FEV₁ 98 ± 5% ref).

Results

We found that: (1) at baseline, patients with COPD showed higher leukocyte counts and IL-8 levels than controls (p < 0.01); and, (2) one hour after maximal inspiratory loading these values were unchanged, except for IL-10, which increased in controls (p < 0.05) but not in patients with COPD.

Conclusions

This study confirms the presence of systemic inflammation in COPD, shows that maximal inspiratory loading does not increase the levels of pro-inflammatory cytokines (IL-1β, IL-8) in COPD patients or controls, but suggests that the former may be unable to mount an appropriate systemic anti-inflammatory response to exercise.     

Mitral annular calcification as a marker of complex aortic atheroma in patients with stroke of uncertain etiology

The aim of this study was to evaluate the presence of dense mitral annular calcification as a marker of complex aortic atherosclerosis in patients with stroke of uncertain etiology. One hundred twenty-one patients with stroke of uncertain etiology were evaluated for complex aortic atherosclerotic plaques; their presence and severity were correlated with transthoracic echocardiographic findings, demographic data, and cardiovascular risk factors. Complex plaques in the ascending aorta or aortic arch were found in 72 of the 121 patients (59.5%). The only difference seen in patients with or without plaques was the presence of dense mitral annular calcification (58.3 vs 16.3%; P < 0.001). Dense mitral annular calcification (n = 50) was associated with higher prevalence of complex aortic plaques (84.0% vs 42.3%; P < 0.001), mobile components (28.0% vs 9.9%; P < 0.01), and protruding (80.0% vs 36.6%; P < 0.001), ulcerated (16.0% vs 1.4%; P < 0.01), and multisite complex plaques (46.0% vs 9.0%; P < 0.001). Therefore, in patients with stroke of uncertain etiology dense mitral annular calcification is an important marker of aortic atherosclerosis with high risk of embolism, and this association may explain in part the high prevalence of stroke and peripheral embolism in patients with mitral annular calcification.     

PLP1 gene analysis in 88 patients with leukodystrophy

Pelizaeus–Merzbacher disease (PMD) is caused in most cases by either duplications or point mutations in the PLP1 gene. This disease, a dysmyelinating disorder affecting mainly the central nervous system, has a wide clinical spectrum and its causing mutations act through different molecular mechanisms. Eighty‐eight male patients with leukodystrophy were studied. PLP1 gene analysis was performed by the Multiplex Ligation‐dependent Probe Amplification technique and DNA sequencing, and, in duplicated cases of PLP1, gene dosage was completed by using array‐CGH. We have identified 21 patients with mutations in the PLP1 gene, including duplications, short and large deletions and several point mutations in our cohort. A customized array‐CGH at the Xq22.2 area identified several complex rearrangements within the PLP1 gene region. Mutations found in the PLP1 gene are the cause of PMD in around 20% of the patients in this series.     

Dengue nonstructural protein-1 status is not associated to circulating levels of interleukin-17, C-reactive protein and complement in children with acute dengue

BackgroundDuring dengue infection increase in plasma level of various substances have been reported. Some of those molecules are related to the virus biology and others result of the interaction virus–host. Nonstructural protein-1 (NS1) secreted by dengue virus has been reported to have a role in dengue pathogenesis. NS1 is capable of interacting with complement to evade viral clearance. However, there is little information about the presence of serum NS1 and the levels of other molecules related to dengue pathogenesis.ObjectivesThe aim of this study was to determine the association of the NS1 status and the circulating levels of interleukin-17 (IL-17), C-reactive protein (CRP), C3 and C4 in acute dengue.Study designIn this study the serum presence of NS1, IL-17, CRP, C3 and C4 was determined in children with acute dengue. IL-17, CRP, anti dengue-IgG content was measured by ELISA, C3 and C4 levels by an immunoturbidimetric assay and NS1 by an immunochromatographic assay.ResultsAll patients were positive for dengue infection as shown by antibodies anti-dengue and/or virus isolation. Increased levels of IL-17, CRP and C4 no related to the presence of NS1 were found in the patients. Values of C3 remained similar to controls.ConclusionsThese findings suggest that NS1 does not module the production of studied molecules during dengue infection.     

Thyroid disorders in employees of a nuclear power plant.

Background: The thyroid gland is a potential target organ for radiation-related damage. The aim of this analysis was to investigate the association between occupational exposure to ionizing radiation and the risk of autoimmune thyroid disease as well as thyroid nodules and dysfunction in workers of a former nuclear power station. Methods: Seventy-one male power station workers 38 to 57 years of gae who had been exposed to a lifetime dose in the upper allowed range (accumulated lifetime dose 70 to 400 mSv) were compared to a population- based sample of 670 males who were not exposed to occupational radiation. Thyroid ultrasound was performed by the same observers. Laboratory parameters were analyzed in a central laboratory. Results: After controlling analyses for age and further relevant confounders no significant differences with respect to thyroid nodules and markers of autoimmune thyroid disease were detected between exposed and nonexposed individuals. However, nuclear power plant employees had higher odds for elevated serum thyrotropin (TSH) levels than the reference group (odds ratio 4.54; 95% confidence interval 1.43; 13.91). Conclusions: Workers of a nuclear power plant with occupational exposure to ionizing radiation within the upper allowed dose range have an increased risk of elevated serum TSH levels. Further studies are required to confirm possible effects of occupational exposure to radiation on thyroid function.     

Transient elastography in DAA era. Relation between post‐SVR LSM and histology

The natural history of HCV chronic infection has drastically changed after direct‐acting antiviral treatment. Due to the high sustained virological response (SVR) achieved, noninvasive estimation of liver fibrosis regression has become a major key point. The present study tries to evaluate the relation between liver histology and liver stiffness measurement (LSM) by transient elastography (TE) after SVR.     

An identification key for the five most common species of Metastrongylus

Species of the Metastrongylus genus, the lung nematodes of pigs that require an intermediate host (earthworm) to complete their cycle, pose a potential risk to both livestock and humans. This parasite which can result in lung pathology and mixed infections with other pathogens (e.g. viruses) can be fatal to pigs. Although this genus is distributed worldwide, there are no classification keys for identifying this common parasite species. In this work, we take advantage of parasitological surveys of wild boar (Sus scrofa) in northern and central Spain and southern Poland to develop a morphological identification key for the five most common Metastrongylus species (Metastrongylus apri, Metastrongylus pudendotectus, Metastrongylus salmi, Metastrongylus confusus and Metastrongylus asymetricus). In addition, we provide the first record of M. confusus in Spain, probably unidentified until now due to the lack of appropriate identification keys. We hope that this user-friendly identification key will enable parasitologists and veterinary practitioners to avoid further misclassifications of Metastrongylus species.