This contribution presents two exponential stability criteria (necessary and sufficient conditions) for linear systems with multiple pointwise and distributed delays. An important property is that ...the stability test requires a finite number of mathematical operations. The results are given in terms of the delay Lyapunov matrix and the fundamental matrix of the system. The exact construction of these matrices is possible for systems with delays multiple of a basic one and distributed delays with kernels expressed in the same finite basis as their derivative.
Vitamin D is essential for the normal mineralization of bones during childhood. Although diet and adequate sun exposure should provide enough of this nutrient, there is a high prevalence of vitamin D ...deficiency rickets worldwide. Children with certain conditions that lead to decreased vitamin D production and/or absorption are at the greatest risk of nutritional rickets. In addition, several rare genetic alterations are also associated with severe forms of vitamin-D-resistant or -dependent rickets. Although vitamin D3 is the threshold nutrient for the vitamin D endocrine system (VDES), direct measurement of circulating vitamin D3 itself is not a good marker of the nutritional status of the system. Calcifediol (or 25(OH)D) serum levels are used to assess VDES status. While there is no clear consensus among the different scientific associations on calcifediol status, many clinical trials have demonstrated the benefit of ensuring normal 25(OH)D serum levels and calcium intake for the prevention or treatment of nutritional rickets in childhood. Therefore, during the first year of life, infants should receive vitamin D treatment with at least 400 IU/day. In addition, a diet should ensure a normal calcium intake. Healthy lifestyle habits to prevent vitamin D deficiency should be encouraged during childhood. In children who develop clinical signs of rickets, adequate treatment with vitamin D and calcium should be guaranteed. Children with additional risk factors for 25(OH)D deficiency and nutritional rickets should be assessed periodically and treated promptly to prevent further bone damage.
Abstract
We tested the idea that functional trade‐offs that underlie species tolerance to drought drive shifts in community composition via their effects on demographic processes and subsequently on ...shifts in species' abundance. Using data from 298 tree species from tropical dry forests during the extreme ENSO‐2015, we scaled‐up the effects of trait trade‐offs from individuals to communities. Conservative wood and leaf traits favoured slow tree growth, increased tree survival and positively impacted species abundance and dominance at the community‐level. Safe hydraulic traits, on the other hand, were related to demography but did not affect species abundance and communities. The persistent effects of the conservative–acquisitive trade‐off across organizational levels is promising for generalization and predictability of tree communities. However, the safety–efficient trade‐off showed more intricate effects on performance. Our results demonstrated the complex pathways in which traits scale up to communities, highlighting the importance of considering a wide range of traits and performance processes.
A retrospective review of patient records was conducted in a single private practice to evaluate the efficacy of immediately placing a novel implant design in posterior jaw locations using a flapless ...technique. Forty-two patients (22 males, 20 females) with a mean (SD) age of 60.2 (7.6) years (range = 31-68) presented with 1-2 nonrestorable molar (maxillary = 14; mandibular = 8) or premolar (maxillary = 20; mandibular = 1) teeth compromised by periodontal disease, endodontic failure, root resorption, root fracture, or severe caries. Most patients (78.6%) had moderate (66.7%) or severe (11.9%) periodontitis. Other comorbidities included smoking (14.3%) and controlled diabetes mellitus (11.9%). After atraumatic extraction, teeth were immediately replaced with a total of 44 trabecular tantalum implants (Trabecular Metal Implants, Zimmer Biomet Dental) (diameter = 3.7-4.7 mm; length = 10-13 mm). Sites requiring augmentation were treated with 3 types of small-particle (250-1000 μm), mineralized, solvent-dehydrated, allografts (Puros) based on location: cortical for crestal sinus grafts, cancellous for peri-implant voids in thick tissue biotypes, or cortical-cancellous (70:30) mix for peri-implant voids in thin tissue biotypes. Cortical particulate was used when slower resorption would help maintain graft volume for esthetics or implant support. Grafts were covered with resorbable bovine pericardium membranes (CopiOs, Zimmer Biomet). Cumulative implant survival and success rates were 97.7%, respectively, with a mean (±SD) follow-up time of 25.0 ± 12.1 months (range = 4-48). One asymptomatic implant failed to osseointegrate. Within the limitations of this study, implants achieved outcomes comparable to conventionally placed and restored single-tooth implants in anterior jaw locations.
Bartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic metabolic alkalosis with secondary hyperaldosteronism. Confirmatory molecular diagnosis may be difficult due ...to genetic heterogeneity and overlapping of clinical symptoms. The aim of our study was to describe the different molecular findings in patients with a clinical diagnosis of classic BS. We included 27 patients (26 families) with no identified pathogenic variants in CLCNKB. We used a customized Ion AmpliSeq Next-Generation Sequencing panel including 44 genes related to renal tubulopathies. We detected pathogenic or likely pathogenic variants in 12 patients (44%), reaching a conclusive genetic diagnosis. Variants in SLC12A3 were found in 6 (Gitelman syndrome). Median age at diagnosis was 14.6 years (range 0.1-31), with no history of prematurity or polyhydramnios. Serum magnesium level was low in 2 patients (33%) but urinary calcium excretion was normal or low in all, with no nephrocalcinosis. Variants in SLC12A1 were found in 3 (BS type 1); and in KCNJ1 in 1 (BS type 2). These patients had a history of polyhydramnios in 3 (75%), and the mean gestational age was 34.2 weeks (SD 1.7). The median age at diagnosis was 1.8 years (range 0.1-6). Chronic kidney disease and nephrocalcinosis were present in 1 (25%) and 3 (75%) patients, respectively. A variant in CLCN5 was found in one patient (Dent disease), and in NR3C2 in another patient (Geller syndrome). Genetic diagnosis of BS is heterogeneous as different tubulopathies can present with a similar clinical picture. The use of gene panels in these diseases becomes more efficient than the study gene by gene with Sanger sequencing.
The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-β-synthase (CBS)-pair domain divalent metal cation transport mediators (CNNMs) have been described to be ...involved in maintaining Mg2+ homeostasis. Among these CNNMs, CNNM2 is expressed in the basolateral membrane of the kidney tubules where it is involved in Mg2+ reabsorption. A total of four patients, two of them with a suspected disorder of calcium metabolism, and two patients with a clinical diagnosis of primary tubulopathy were screened for mutations by Next-Generation Sequencing (NGS). We found one novel likely pathogenic variant in the heterozygous state (c.2384C>A; p.(Ser795*)) in the CNNM2 gene in a family with a suspected disorder of calcium metabolism. In this family, hypomagnesemia was indirectly discovered. Moreover, we observed three novel variants of uncertain significance in heterozygous state in the other three patients (c.557G>C; p.(Ser186Thr), c.778A>T; p.(Ile260Phe), and c.1003G>A; p.(Asp335Asn)). Our study shows the utility of Next-Generation Sequencing in unravelling the genetic origin of rare diseases. In clinical practice, serum Mg2+ should be determined in calcium and PTH-related disorders.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Monogenic diabetes can be misdiagnosed as type 1 or type 2 diabetes in children. The right diagnosis is crucial for both therapeutic choice and prognosis and influences genetic counseling. The main ...objective of this study was to search for monogenic diabetes in Spanish pediatric patients suspected of type 1 diabetes with lack of autoimmunity at the onset of the disease. We also evaluated the extra value of ZnT8A in addition to the classical IAA, GADA and IA2A autoantibodies to improve the accuracy of type 1 diabetes diagnosis.
Four hundred Spanish pediatric patients with recent-onset diabetes (mean age 8.9 ± 3.9 years) were analyzed for IAA, GADA, IA2A and ZnT8A pancreatic-autoantibodies and HLA-DRB1 alleles. Patients without autoimmunity and those with only ZnT8A positive were screened for 12 monogenic diabetes genes by next generation sequencing.
ZnT8A testing increased the number of autoantibody-positive patients from 373 (93.3%) to 377 (94.3%). An isolated positivity for ZnT8A allowed diagnosing autoimmune diabetes in 14.8% (4/27) of pediatric patients negative for the rest of the antibodies tested. At least 2 of the 23 patients with no detectable autoimmunity (8%) carried heterozygous pathogenic variants: one previously reported missense variant in the INS gene (p.Gly32Ser) and one novel frameshift variant (p.Val264fs) in the HNF1A gene. One variant of uncertain significance was also found. Carriers of pathogenic variants had HLA-DRB1 risk alleles for autoimmune diabetes and clinical characteristics compatible with type 1 diabetes except for the absence of autoimmunity.
ZnT8A determination improves the diagnosis of autoimmune diabetes in pediatrics. At least 8% of pediatric patients suspected of type 1 diabetes and with undetectable autoimmunity have monogenic diabetes and can benefit from the correct diagnosis of the disease by genetic study.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Abstract Introduction: Epiphytes (vascular and non-vascular) are one of the most diverse groups in the Neotropics, but despite their importance in the functioning of many ecosystems, much of their ...taxonomy and ecology is still unknown in the dry forest of Colombia. Objective: To compare the diversity patterns and species composition of vascular and non-vascular epiphytes along tropical dry forest remnants of Cauca Valley, Colombia. Methods: Ten permanent plots (50 x 20 m2) were established in tropical dry forest remnants. The epiphytes were sampled in 40-50 trees per plot. Alpha and gamma diversity were calculated using the richness (q0) and Shannon index (q1) (alpha was estimated as the average for phorophytes). Beta diversity was measured using the Whitaker index. To evaluate the relationship between diversities and environmental variables, GLM analysis was used. Results: We found 50 morphospecies of vascular epiphytes, 77 of bryophytes and 290 of lichens. The 𝛼 and 𝛾 diversity of bryophytes from each remnant was significantly explained by temperature. The abundance of lichens per tree was significantly related with the DBH and tree height of each remnant. The 𝛼 diversity of vascular epiphytes shown can be explained by temperature and precipitation. The 𝛾 diversity was strongly influenced by the beta diversity in bryophytes and lichens. This pattern is because the sites with high disturbance present a lower diversity, as a consequence of a homogenizing effect, that is, a low turnover of species between sampling units. Conclusions: Precipitation and temperature affected the diversity of bryophytes and vascular epiphytes, while it did not show a relationship with the lichen’s diversity, for which there is not a high congruence between the diversity and composition of these epiphytes.
Primary localized cutaneous nodular amyloidosis (PLCNA) is included in the primary forms of cutaneous amyloidosis along with macular and lichenoid amyloidosis. It is a rare disease attributed to ...plasma cell proliferation and deposition of immunoglobulin light chains in the skin. We present the case of a 75-year-old woman with a personal history of Sjogren's syndrome (SjS), who consulted for asymptomatic yellowish, waxy nodules on the left leg. Dermoscopy of the lesions showed a smooth, structureless, yellowish surface with hemorrhagic areas and few telangiectatic vessels. Histopathology revealed an atrophic epidermis and deposits of amorphous eosinophilic material in the dermis with a positive Congo red stain. The diagnosis of nodular amyloidosis was made. Periodic reevaluation was indicated after the exclusion of systemic amyloidosis. PLCNA is often associated with autoimmune connective tissue diseases, and up to 25% of all PLCNA cases occur in patients with SjS. Therefore, in addition to ruling out systemic amyloidosis, screening for possible underlying SjS should be performed when the diagnosis of PLCNA is confirmed.
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