Unveiling the Coordinated Action of DesK/DesR and YvfT/YvfU to Control the Expression of an ABC Transporter in Bacillus subtilis.

Two-component systems (TCSs) are vital signal transduction pathways ubiquitous among bacteria, facilitating their responses to diverse environmental stimuli. In Bacillus subtilis, the DesK histidine kinase thermosensor, together with the response regulator DesR, constitute a TCS dedicated to membrane lipid homeostasis maintenance. This TCS orchestrates the transcriptional regulation of the des gene, encoding the sole desaturase in these bacteria, Δ5-Des. Additionally, B. subtilis possesses a paralog TCS, YvfT/YvfU, with unknown target gene(s). In this work, we show that YvfT/YvfU controls the expression of the yvfRS operon that codes for an ABC transporter. Interestingly, we found that this regulation also involves the action of DesK/DesR. Notably, opposite to des, yvfRS transcription is induced at 37°C and not at 25°C. Our in vivo and in vitro experiments demonstrate that both YvfU and DesR directly bind to the operon promoter region, with DesR exerting its control over yvfRS expression in its unphosphorylated state. Our study uncovers an intriguing case of cross-regulation where two homologous TCSs interact closely to finely tune gene expression in response to environmental cues. These findings shed light on the complexity of bacterial signal transduction systems and their critical role in bacterial adaptability.

Centrosome maturation - in tune with the cell cycle.

Centrosomes are the main microtubule-organizing centres, playing essential roles in the organization of the cytoskeleton during interphase, and in the mitotic spindle, which controls chromosome segregation, during cell division. Centrosomes also act as the basal body of cilia, regulating cilium length and affecting extracellular signal reception as well as the integration of intracellular signalling pathways. Centrosomes are self-replicative and duplicate once every cell cycle to generate two centrosomes. The core support structure of the centrosome consists of two molecularly distinct centrioles. The mother (mature) centriole exhibits accessory appendages and is surrounded by both pericentriolar material and centriolar satellites, structures that the daughter (immature) centriole lacks. In this Review, we discuss what is currently known about centrosome duplication, its dialogue with the cell cycle and the sequential acquisition of specific components during centriole maturation. We also describe our current understanding of the mature centriolar structures that are required to build a cilium. Altogether, the built-in centrosome asymmetries that stem from the two centrosomes inheriting molecularly different centrioles sets the foundation for cell division being an intrinsically asymmetric process.

Early-onset recurrent panniculitis as a phenotype of NLRC4-associated autoinflammatory syndrome: Characterization of pathogenicity of the p.Ser445Pro NLRC4 variant.

Monoallelic NLRC4 gain-of-function variants cause an inflammasomopathy with diverse clinical forms including infantile enterocolitis, recurrent macrophage activation syndrome, cold-induced urticaria-like lesions (or familial-cold autoinflammatory syndrome, FCAS4), and painful subcutaneous nodules. Here, we identified a large family with six consecutive generations affected. Genetic analyses detected the heterozygous p.Ser445Pro NLRC4 variant in three patients, which has been previously reported in a Dutch family with FCAS4. We aimed to describe the clinicopathological features and the functional consequences of the detected NLRC4 variant. Patients presented an early-onset (3 months-6 years) inflammatory disease characterized by recurrent panniculitis, fever and arthralgia. Histopathological examination showed perivascular and interstitial lymphohistiocytic infiltrates in the dermis and mixed panniculitis. Functional analysis supported the conclusion that the p.Ser445Pro NLRC4 variant leads to a constitutive activation of NLRC4-inflammasome and increased plasma levels of IL-18. Prompt recognition of early-onset panniculitis through clinicopathological examination and laboratory biomarkers may allow targeted therapies.

Integrating tick density and park visitor behaviors to assess the risk of tick exposure in urban parks on Staten Island, New York.

BACKGROUND: Public green spaces are important for human health, but they may expose visitors to ticks and tick-borne pathogens. We sought to understand, for the first time, visitors' exposure risk and drivers of tick-preventative behavior in three popular parks on Staten Island, New York City, NY, USA, by integrating tick hazard and park visitors' behaviors, risk perceptions and knowledge. METHODS: We conducted tick sampling in three parks, across three site types (open spaces, the edge of open spaces, and trails) and three within-park habitats (maintained grass, unmaintained herbaceous, and leaf litter) to estimate tick density during May-August 2019. Human behavior was assessed by observations of time spent and activity type in each site. We integrated the time spent in each location by park visitors and the tick density to estimate the probability of human-tick encounter. To assess visitors' tick prevention behaviors, a knowledge, attitude, and practices (KAP) survey was administered. RESULTS: Three tick species (Ixodes scapularis, Amblyomma americanum and Haemaphysalis longicornis) were collected. For all species, the density of nymphs was greatest in unmaintained herbaceous habitats and trails, however, the fewest people entered these hazardous locations. The KAP survey revealed that most respondents (N = 190) identified parks as the main location for tick exposure, but most believed they had minimal risk for tick encounter. Consequently, many visitors did not conduct tick checks. People were most likely to practice tick checks if they knew multiple prevention methods and perceived a high likelihood of tick encounter. CONCLUSIONS: By integrating acarological indices with park visitor behaviors, we found a mismatch between areas with higher tick densities and areas more frequently used by park visitors. However, this exposure risk varied among demographic groups, the type of activities and parks, with a higher probability of human-tick encounters in trails compared to open spaces. Furthermore, we showed that people's KAP did not change across parks even if parks represented different exposure risks. Our research is a first step towards identifying visitor risk, attitudes, and practices that could be targeted by optimized messaging strategies for tick bite prevention among park visitors.

Recovery rate and factors associated with smell and taste disruption in patients with coronavirus disease 2019.

PURPOSE: To determine the occurrence of olfactory and gustatory disruptions in COVID-19 patients, their association with demographic and clinical features and prognosis. MATERIAL AND METHODS: This observational cohort study involved consecutively diagnosed COVID-19 patients tested between March the 3rd 2020 and March the 24th 2020, in a geographically defined cohort area. All COVID-19 patients were evaluated in a University Hospital. The primary outcome of interest is the prevalence of smell and taste alterations, factors associated and recovery rate. Univariate and multivariate analysis by logistic regression was performed to detect factors associated to these symptoms. RESULTS: 151 patients were included and 99 (65.6%) reported olfactory or gustatory symptoms. Olfactory dysfunction was reported by 75 patients (49.7%). Isolated anosmia was found in 2 patients (1.3%). Gustatory dysfunction was reported by 91 patients (60.3%). Factors associated with higher prevalence of smell dysfunction included age, sex, and comorbidities. The time to smell disruption development was significantly shorter in mild to moderate patients than in severe patients (p = 0.043). In 85.3% of patients with smell disruption, the symptom had been resolved in the first 2 months. 14.7% of patients remained symptomatic after 3 months of follow-up. CONCLUSIONS: Olfactory and gustatory dysfunction was common in COVID-19 patients. Smell disruption has high recovery rate and was associated with age, sex, and clinical severity. It may be beneficial to investigate the appearance of taste and/or smell disruptions in individual patients, with respect to diagnosis and prognosis.

Factors associated with the absence of cocaine craving in treatment-seeking individuals during inpatient cocaine detoxification.

BACKGROUND: Anecdotal evidence suggests a substantial proportion of individuals with cocaine use disorder do not report craving during inpatient detoxification. OBJECTIVE: To examine prevalence and clinical correlates of consistent absence of cocaine craving among inpatients during detoxification. We hypothesized that craving absence would be associated with less severity of cocaine use, depression, and anxiety. Alternative explanations were also explored. METHODS: Craving absence (i.e., non-cravers) was defined as a daily score of zero across two separate craving visual analogue scales in each of the inpatient days. Participants scoring ≥1 on ≥1 day were considered cravers. Severity of cocaine use disorder as well as in-treatment depression and anxiety were assessed. Alternative contributors included presence of cocaine and other substances in urine at admission, in-treatment prescription of psychotropic medications, treatment motivation, executive function, interoception, and social desirability. RESULTS: Eighty-seven participants (78.2% males) met criteria as either non-cravers (n = 29; 33.3%) or cravers (n = 58; 66.7%). Mean length of admission in non-cravers and cravers was, respectively, 10.83 and 13.16 days. Binary logistic regression model showed that non-cravers scored significantly lower than cravers on cocaine use during last month before treatment (OR, 95% CI; 0.902, 0.839-0.970), in-treatment depression (OR, 95% CI; 0.794, 0.659-0.956), and in-treatment prescribing of antipsychotics (OR, 95% CI; 0.109, 0.014-0.823). Model prediction accuracy was 88.9%. CONCLUSIONS: One in three patients undergoing inpatient detoxification experienced absence of craving, linked to less pretreatment cocaine use, better mood, and decreased administration of antipsychotics. Findings may inform pretreatment strategies and improve treatment cost-effectiveness.

Breaking Trivium Stream Cipher Implemented in ASIC Using Experimental Attacks and DFA.

One of the best methods to improve the security of cryptographic systems used to exchange sensitive information is to attack them to find their vulnerabilities and to strengthen them in subsequent designs. Trivium stream cipher is one of the lightweight ciphers designed for security applications in the Internet of things (IoT). In this paper, we present a complete setup to attack ASIC implementations of Trivium which allows recovering the secret keys using the active non-invasive technique attack of clock manipulation, combined with Differential Fault Analysis (DFA) cryptanalysis. The attack system is able to inject effective transient faults into the Trivium in a clock cycle and sample the faulty output. Then, the internal state of the Trivium is recovered using the DFA cryptanalysis through the comparison between the correct and the faulty outputs. Finally, a backward version of Trivium was also designed to go back and get the secret keys from the initial internal states. The key recovery has been verified with numerous simulations data attacks and used with the experimental data obtained from the Application Specific Integrated Circuit (ASIC) Trivium. The secret key of the Trivium were recovered experimentally in 100% of the attempts, considering a real scenario and minimum assumptions.

Clinical and demographic characteristics of fatal anaphylaxis in Spain (1998-2011): A comparison between a series from the hospital system and a national forensic series.

BACKGROUND: Reports of fatal anaphylaxis remain scarce because of the rarity of the condition and the fact that information is limited to a few countries. OBJECTIVE: Our objective was to investigate clinical and demographic characteristics and the causes of fatal anaphylaxis in Spain using two databases of cases of fatal anaphylaxis. METHODS: We analysed fatal anaphylaxis in a series from the Spanish hospital system and a series from the National Institute of Toxicology and Forensic Sciences (Instituto Nacional de Toxicología y Ciencias Forenses [INTCF]), which predominantly comprise extrahospital deaths. Deaths from the Spanish hospital system were retrieved from among all deaths occurring during 1998-2011 using codes related to anaphylaxis. Deaths due to anaphylaxis in the INTCF database during the same period were retrieved by 2 allergists, who identified cases in which anaphylaxis was a possible cause of death. A logistic regression model was constructed to predict the characteristics of fatal anaphylaxis in each database. RESULTS: The incidence of death by anaphylaxis in Spain using both databases was 0.25 (95% CI, 0.24-0.26) deaths per million person-years. The most frequent causes of death in the hospital system were drugs (46.1%), unknown causes (40.0%), and foods (10.4%); in the INTCF, the most common causes of death were drugs (47.2%), insect stings (30.6%), and foods (11.1%). The logistic regression model showed that fatal anaphylaxis due to unknown causes (OR 15.2, 95% CI 1.8-129.8) was more likely in the hospital database, whereas insect stings (OR 100, 95% CI 10-833.3) and previous atopic comorbidity (OR 15.2, 95% CI 6.3-33.3) were more likely in the INTCF database. CONCLUSIONS & CLINICAL RELEVANCE: The estimated frequency of fatal anaphylaxis in Spain was among the lowest reported. Future studies of fatal anaphylaxis should use databases from different origins in order to show the considerable heterogeneity in this type of death.

Medical and pathologic characteristics of fatal anaphylaxis: a Spanish nationwide 17-year series.

Forensic series on fatal anaphylaxis are scarce, probably because the diagnosis of anaphylaxis is often complex and the incidence is low. We report on the medicolegal, demographic and histopathological characteristics of a series of sudden deaths which were investigated for anaphylaxis at the Spanish National Institute of Toxicology and Forensic Sciences (INTCF) over a 17-year period (1998-2015). A total of 122 undetermined sudden deaths from a high percentage of Spanish regions (81.5% of the total population) were sent to the INTCF with anaphylaxis as the suspected cause of death for histological, biochemical, and medicolegal investigation. Two certified allergists confirmed that 46 of the 122 cases were fatal anaphylaxis. The results indicated a median age of 51 years (IQR = 29) and a male predominance (76%). The main causes of anaphylaxis were drugs (41%), hymenoptera stings (33%), and food (13%). A previous allergic event had been reported in both food anaphylaxis (67%) and drug anaphylaxis (53%). The deaths occurred in health care settings (37%), at home (22%), and outside the home (26.09%). Histopathology data were available for 40 individuals. The most frequent autopsy findings were angioedema of the upper airways (50%), pulmonary edema (47.5%), atheromatosis of coronary vessels (32.5%), and pulmonary congestion (27.5%). Our findings for fatal anaphylaxis indicated a predominance of men, older age (≥50 years) and death in a health care setting (one-third of cases). Previous episodes had occurred in two-thirds of cases of food-induced anaphylaxis and in half of the cases of drug-induced anaphylaxis.

The Biological Variation Data Critical Appraisal Checklist: A Standard for Evaluating Studies on Biological Variation.

BACKGROUND: Concern has been raised about the quality of available biological variation (BV) estimates and the effect of their application in clinical practice. A European Federation of Clinical Chemistry and Laboratory Medicine Task and Finish Group has addressed this issue. The aim of this report is to (a) describe the Biological Variation Data Critical Appraisal Checklist (BIVAC), which verifies whether publications have included all essential elements that may impact the veracity of associated BV estimates, (b) use the BIVAC to critically appraise existing BV publications on enzymes, lipids, kidney, and diabetes-related measurands, and (c) apply metaanalysis to deliver a global within-subject BV (CVI) estimate for alanine aminotransferase (ALT). METHODS: In the BIVAC, publications were rated as A, B, C, or D, indicating descending compliance for 14 BIVAC quality items, focusing on study design, methodology, and statistical handling. A D grade indicated that associated BV estimates should not be applied in clinical practice. Systematic searches were applied to identify BV studies for 28 different measurands. RESULTS: In total, 128 publications were identified, providing 935 different BV estimates. Nine percent achieved D scores. Outlier analysis and variance homogeneity testing were scored as C in >60% of 847 cases. Metaanalysis delivered a CVI estimate for ALT of 15.4%. CONCLUSIONS: Application of BIVAC to BV publications identified deficiencies in required study detail and delivery, especially for statistical analysis. Those deficiencies impact the veracity of BV estimates. BV data from BIVAC-compliant studies can be combined to deliver robust global estimates for safe clinical application.

The combined use of chemical and biochemical markers in Rutilus rutilus to assess the effect of dredging in the lower course of the Ebro River.

The lower course of the Ebro River is polluted with high concentrations of organochlorine compounds dumped by a chloro-alkali plant during the last century. A remediation plan, including building of a protective wall, removal and disposal of polluted sediments started in 2012. With the aim of assessing the effects of dredging of contaminated sediments and potential alterations of water quality, areas located upstream (RR) and downstream (BE, A) the chemical plant (FL) were monitored prior (October 2012) and during dredging (June 2013) using roach (Rutilus rutilus) as sentinel organisms. Concentrations of organochlorine compounds (OCs) in fish muscle and biliary levels of polycyclic aromatic hydrocarbons (PAHs), galaxolide (HHCB) and alkyphenols (APEs) were determined together with selected enzymatic activities (7-ethoxyresorufin-O-deethylase (EROD), 7-benzyloxy-4-trifluoromethyl-coumarin O-debenzyloxylase (BFCOD) and UDP-glucuronyltransferase (UGT)) in the liver. The obtained results proved the effectiveness of the wall retaining suspended particles and avoiding further contamination of downstream sites as fish sampled at downstream sites showed up to 9-fold higher concentrations of OCs in muscle during wall construction than during dredging. EROD and UGT activities were induced in fish from downstream sites; however, no clear response to the observed pollution gradient was detected.

Detection and quantification of Alicyclobacillus acidoterrestris by electrical impedance in apple juice.

Alicyclobacillus acidoterrestris is a thermotolerant bacterium able to grow in fruit juices and drinks, as the spoilage by Alicyclobacillus in the final product does not product any gas, but leads to a "medicine flavor" due to the formation of guaicol. Also, its detection is a challenge for the quality control departments, because it takes several days to get the results of traditional microbiology methods. This study aimed at developing a more accurate electrical impedance technique for the detection of A. acidoterrestris in concentrated apple juice. Samples of apple juice were inoculated with A. acidoterrestris spores isolated from a peach and grape juice. For the spore germination, several heat-shock treatments were tested (80 °C/10 min, 70 °C/20 min and 60 °C/30 min). Direct and indirect electrical impedance was applied to detect and quantify the microorganism in the inoculated apple juice, using BAT broth and Bimedia 002A (pH 4). The 80 °C/10 min treatment was selected for spore activation. The valid electrical impedance technique was the indirect method in BAT broth, which measured the changes in the impedance through the formation of CO2. In addition, a positive correlation (r = 0.98, R2 = 0.97) was observed between the classical microbiology (BAM agar) and the indirect impedance method.

Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.

OBJECTIVE: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a potentially lethal autosomal recessive liver disease associated with mutations in ABCB4, the gene encoding the canalicular translocator of phosphatidylcholine MDR3. While some affected children benefit from ursodeoxycholic acid (UDCA) therapy, others evolve to end-stage liver disease. We aimed to evaluate whether these different outcomes are related to the impact of ABCB4 mutations. DESIGN: Six children with PFIC3 were investigated by sequencing of ABCB4 exons and flanking intron-exon boundaries and by immunohistochemistry. ABCB4 missense mutations were phenotyped in vitro by assessing their effects on MDR3 expression, subcellular localisation, and phosphatidylcholine-translocating activity. The resulting data were contrasted with the clinical outcomes. RESULTS: Eight distinct ABCB4 mutations were identified: one nonsense, one splicing and six missense mutations, four of which (G68R, T201M, P479L, D459H) affected MDR3 expression level. G68R and D459H also led to retention of the protein in endoplasmic reticulum. Phosphatidylcholine efflux assays indicated that T201M, P479L, S978P and E1118K mutations impaired MDR3 activity to variable degrees. Three children with mutations that caused a total loss of MDR3 expression/function manifested progressive liver disease refractory to UDCA treatment. This was also the case in a patient carrying two different mutations that, in combination, resulted in a 90% reduction in total MDR3 activity. A favourable response to UDCA was achieved in two patients with estimated MDR3 activities of 50% and 33%, respectively. CONCLUSIONS: These data provide experimental evidence of the correlation between the degree of MDR3 floppase activity and the clinical outcomes of PFIC3.

Rationale for using data on biological variation.

The aims of this study are: 1) to use the data included in the biological variation (BV) database to address the usability of BV estimates; and 2) to use different examples from the authors' laboratories to illustrate the use and the usefulness of BV data in laboratory medicine. The BV database is an essential tool for laboratory management. Examples of application of data derived from BV are given in this paper, such as analytical performance specifications that have been included in various quality control software designed to optimize operative rules; also they have been incorporated as acceptability limits in external quality assurance reports. BV data from pathological status are of utmost interest for monitoring patients and differences between the intra-individual coefficients of variation (CVI) estimated from healthy and patients are shown. However, for a number of analytes there are limited data available and for many there are no data, consequently new studies should be encouraged at an international level. In addition, developing international criteria to evaluate publications dealing with the estimation of BV components would be of the utmost interest. We are ready and willing to collaborate with such worthy initiatives. The first EFLM strategic conference on analytical performance specifications is an excellent opportunity for debating these ideas.

Biological variation database: structure and criteria used for generation and update.

BACKGROUND: Numerical data on the components of biological variation (BV) have many uses in laboratory medicine, including in the setting of analytical quality specifications, generation of reference change values and assessment of the utility of conventional reference values. METHODS: Generation of a series of up-to-date comprehensive database of components of BV was initiated in 1997, integrating the more relevant information found in publications concerning BV. A scoring system was designed to evaluate the robustness of the data included. The database has been updated every 2 years, made available on the Internet and derived analytical quality specifications for imprecision, bias and total allowable error included in the tabulation of data. RESULTS AND CONCLUSIONS: Our aim here is to document, in detail, the methodology we used to evaluate the reliability of the included data compiled from the published literature. To date, our approach has not been explicitly documented, although the principles have been presented at many symposia, courses and conferences.

Influence of physical activity in the intake of trihalomethanes in indoor swimming pools.

This study describes the relationship between physical activity and intake of trihalomethanes (THMs), namely chloroform (CHCl3), bromodichloromethane (CHCl2Br), dibromochloromethane (CHClBr2) and bromoform (CHBr3), in individuals exposed in two indoor swimming pools which used different disinfection agents, chlorine (Cl-SP) and bromine (Br-SP). CHCl3 and CHBr3 were the dominant compounds in air and water of the Cl-SP and Br-SP, respectively. Physical exercise was assessed from distance swum and energy expenditure. The changes in exhaled breath concentrations of these compounds were measured from the differences after and before physical activity. A clear dependence between distance swum or energy expenditure and exhaled breath THM concentrations was observed. The statistically significant relationships involved higher THM concentrations at higher distances swum. However, air concentration was the major factor determining the CHCl3 and CHCl2Br intake in swimmers whereas distance swum was the main factor for CHBr3 intake. These two causes of THM incorporation into swimmers concurrently intensify the concentrations of these compounds into exhaled breath and pointed to inhalation as primary mechanism for THM uptake. Furthermore, the rates of THM incorporation were proportionally higher as higher was the degree of bromination of the THM species. This trend suggested that air-water partition mechanisms in the pulmonary system determined higher retention of the THM compounds with lower Henry's Law volatility constants than those of higher constant values. Inhalation is therefore the primary mechanisms for THM exposure of swimmers in indoor buildings.

Harmonization in hemolysis detection and prevention. A working group of the Catalonian Health Institute (ICS) experience.

BACKGROUND: Hemolysis is the main cause of non-quality samples in clinical laboratories, producing the highest percentage of rejections in the external assurance programs of preanalytical quality. The objective was to: 1) study the agreement between the detection methods and quantification of hemolysis; 2) establish comparable hemolysis interference limits for a series of tests and analytical methods; and 3) study the preanalytical variables which most influence hemolysis production. METHODS: Different hemoglobin concentration standards were prepared using the reference method. Agreement was studied between automated methods [hemolytic indexes (HI)] and reference method, as well as the interference according to hemolysis degree in various biochemical tests was measured. Preanalytical variables which could influence hemolysis production were studied: type of extraction, type of tubes, transport time, temperature and centrifugation conditions. RESULTS: Good agreement was obtained between hemoglobin concentrations measured using the reference method and HI, for the most of studied analyzers, particularly those giving quantitative HI. The hemolysis interference cut-off points obtained for the majority of tests studied (except LDH, K) are dependent on the method/analyzer utilized. Furthermore, discrepancies have been observed between interference limits recommended by the manufacturer. The preanalytical variables which produce a lower percentage of hemolysis rejections were: centrifugation at the extraction site, the use of lower volume tubes and a transport time under 15 min at room temperature. CONCLUSIONS: The setting of interference limits (cut-off) for each used test/method, and the study of preanalytical variability will assist to the results harmonization for this quality indicator.

Quantitative ultrasound measurements of the calcaneus and hand phalanges in elderly Spanish men: relationship with peripheral bone mineral density of the hand phalanges.

OBJECTIVES: The aims of this pilot study were to describe quantitative ultrasound (US) measurements and peripheral bone mineral density (BMD) of the hand phalanges on dual-energy x-ray absorptiometry and to examine the correlations between them in elderly Spanish men. METHODS: We studied 199 healthy men (mean age ± SD, 73.31 ± 5.10 years). The participants were not taking any medications, and they reported no diseases, including diseases that are associated with abnormalities in mineral metabolism. Phalangeal and calcaneal quantitative US measurements and phalangeal BMD measurements were performed in all participants. RESULTS: A bivariate correlation analysis showed no association between quantitative US assessments at the phalanges or the calcaneus (P = .409). After adjustment for potential confounders, the correlation between phalangeal BMD and phalangeal quantitative US measurements was r = 0.417 (P < .0001), and the correlation for calcaneal quantitative US was r = 0.26 (P = .001). Further adjustment by percentage of body fat increased quantitative US correlations with phalangeal BMD: r = 0.450 (P < .0001) at the phalanges; r = 0.291 (P = .001) at the calcaneus. CONCLUSIONS: There is a small correlation between quantitative US measurements at the calcaneus and phalangeal BMD that increases to a moderate level with quantitative US measurements at the phalanges in elderly Spanish men.

[Split hand-foot: sonographic detection at 12 weeks]. / Ectrodactilia: detección ecográfica a las 12 semanas.

Split hand-foot malformation is a rare disorder inherited in an autosomal dominant pattern with variable expression. Inour case, it was detected early by ultrasound in the twelfth week of gestation. The sonographic findings were bilateral split hands and feet. No other alterations were observed in the rest of the systematic assessment of the foetal anatomy. The pathological findings were consistent with the sonographic diagnosis. Prenatal diagnosis by corionic villus sampling was performed and voluntary termination of gestation decided.