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Abstract Mowat-Wilson syndrome can be mentioned as one of the most severe and, at the same time, rare genetic abnormalities. The inheritance pattern of this disorder is an autosomal dominant pattern. In this disease, the ZEB2 gene becomes abnormal. The severity of the disease and associated signs and symptoms can vary widely but may include distinct facial features, developmental delay, intellectual disability, and Hirschsprung. MWS treatment may vary based on the specific symptoms that appear in each individual. This review will examine the gene involved in this disease, phenotype, clinical manifestations, ways of diagnosis, and treatment of this disease.

Mowat-Wilson syndrome can be mentioned as one of the most severe and, at the same time, rare genetic abnormalities. The inheritance pattern of this disorder is an autosomal dominant pattern. In this disease, the ZEB2 gene becomes abnormal. The severity of the disease and associated signs and symptoms can vary widely but may include distinct facial features, developmental delay, intellectual disability, and Hirschsprung. MWS treatment may vary based on the specific symptoms that appear in each individual. This review will examine the gene involved in this disease, phenotype, clinical manifestations, ways of diagnosis, and treatment of this disease. [ABSTRACT FROM AUTHOR]

The aim of the study is to determine the relationship between workaholism and work-family conflict. Previous studies concluded the possible relationship between workaholism and work-family conflict, in which workaholics experience higher conflict in their personal lives. The study was conducted among the workers in the Republic of North Macedonia. 80 workers from different sectors participated in the survey. 42 of them were male and 38 were female. Participants were mostly between 18-25 years old (with the total number of 41). 10 of the participants were between 26-35 years old while 16 of the total participants were between 36-45 years old. Only 13 of the participants were 45 years old or above. In the survey, Multidimensional Workaholism Scale (MWS) and Work and Family Conflict Scale (WAFCS) was used. According to the results, there is a positive and significant relationship between workaholism and work to family conflict. Also, according to the results there is a positive and significant relationship between workaholism and family to work conflict. However, while workaholism and work to family is strongly correlated, workaholism and family to work conflict is moderately correlated. [ABSTRACT FROM AUTHOR]

This work presents an algorithm based on a neural network (NN) for cloud detection to detect clouds and their thermodynamic phase using spectral observations from spaceborne microwave radiometers. A standalone cloud detection algorithm over the ocean and land has been developed to distinguish clear sky versus ice and liquid clouds from microwave sounder (MWS) observations. The MWS instrument—scheduled to be onboard the first satellite of the Eumetsat Polar System Second-Generation (EPS-SG) series, MetOp-SG A1—has a direct inheritance from advanced microwave sounding unit A (AMSU-A) and the microwave humidity sounder (MHS) microwave instruments. Real observations from the MWS sensor are not currently available as its launch is foreseen in 2024. Thus, a simulated dataset of atmospheric states and associated MWS synthetic observations have been produced through radiative transfer calculations with ERA5 real atmospheric profiles and surface conditions. The developed algorithm has been validated using spectral observations from the AMSU-A and MHS sounders. While ERA5 atmospheric profiles serve as references for the model development and its validation, observations from AVHRR cloud mask products provide references for the AMSU-A/MHS model evaluation. The results clearly show the NN algorithm's high skills to detect clear, ice and liquid cloud conditions against a benchmark. In terms of overall accuracy, the NN model features 92% (88%) on the ocean and 87% (85%) on land, for the MWS (AMSU-A/MHS)-simulated dataset, respectively. [ABSTRACT FROM AUTHOR]

Background: Mowat-Wilson syndrome (MWS) is extremely rare multisystemic autosomal dominant disorder caused by mutations in the Zinc Finger E-Box Binding Homeobox 2 (ZEB2) gene. Ocular pathologies are one of the symptoms that appear in the clinical picture of MWS individuals, but not many have been described so far. Pathologies such as optic nerve or retinal epithelium atrophy, iris or optic disc coloboma as well as congenital cataracts have been most frequently described until now. Therefore, we would like to report the first case of bilateral developmental cataract in a 9-year-old girl with MWS who underwent successful cataract surgery with intraocular lens implantation. Case Presentation: A 9-year-old girl, diagnosed with p.Gln694Ter mutation in ZEB2 gene and suspicion of MWS was referred to the Children's Outpatient Ophthalmology Clinic for ophthalmological evaluation. Her previous assessments revealed abnormalities of the optic nerve discs. The patient was diagnosed with atrophy of the optic nerves, convergent strabismus, and with-the-rule astigmatism. One year later, during the follow-up visit, the patient was presented with decreased visual acuity (VA), developmental total cataract in the right eye and a developmental partial cataract in the left eye. This resulted in decreased VA confirmed by deteriorated responses in visual evoked potential (VEP) test. The girl underwent a two-stage procedure of cataract removal, first of one eye and then of the other eye with artificial lens implants. In the 2 years following the operation, no complications were observed and, most remarkably, VA improved significantly. Conclusions: The ZEB2 gene is primarily responsible for encoding the Smad interaction protein 1 (SIP1), which is involved in the proper development of various eye components. When mutated, it results in multilevel abnormalities, also in the proper lens formation, that prevent the child from normal vision development. This typically results in the formation of congenital cataracts in children with MWS syndrome, however, our case shows that it also leads to the formation of developmental cataracts. This is presumably due to the effect of the lack of SIP1 on other genes, altering their downstream expression and is a novel insight into the importance of the SIP1 in the occurrence of ocular pathologies. To the best of our knowledge, this is the first case of bilateral developmental cataract in the context of MWS. Moreover, a novel mutation (p.Gln694Ter) in the ZEB2 gene was found corresponding to this syndrome entity. This report allows us to gain a more comprehensive insight into the genetic spectrum and the corresponding phenotypic features in MWS syndrome patients. [ABSTRACT FROM AUTHOR]

This work presents an algorithm based on a neural network (NN) for cloud detection to detect clouds and their thermodynamic phase using spectral observations from spaceborne microwave radiometers. A standalone cloud detection algorithm over the ocean and land has been developed to distinguish clear sky versus ice and liquid clouds from microwave sounder (MWS) observations. The MWS instrument—scheduled to be onboard the first satellite of the Eumetsat Polar System Second-Generation (EPS-SG) series, MetOp-SG A1—has a direct inheritance from advanced microwave sounding unit A (AMSU-A) and the microwave humidity sounder (MHS) microwave instruments. Real observations from the MWS sensor are not currently available as its launch is foreseen in 2024. Thus, a simulated dataset of atmospheric states and associated MWS synthetic observations have been produced through radiative transfer calculations with ERA5 real atmospheric profiles and surface conditions. The developed algorithm has been validated using spectral observations from the AMSU-A and MHS sounders. While ERA5 atmospheric profiles serve as references for the model development and its validation, observations from AVHRR cloud mask products provide references for the AMSU-A/MHS model evaluation. The results clearly show the NN algorithm’s high skills to detect clear, ice and liquid cloud conditions against a benchmark. In terms of overall accuracy, the NN model features 92% (88%) on the ocean and 87% (85%) on land, for the MWS (AMSU-A/MHS)-simulated dataset, respectively.

Background: Mowat-Wilson syndrome (MWS) is extremely rare multisystemic autosomal dominant disorder caused by mutations in the Zinc Finger E-Box Binding Homeobox 2 (ZEB2) gene. Ocular pathologies are one of the symptoms that appear in the clinical picture of MWS individuals, but not many have been described so far. Pathologies such as optic nerve or retinal epithelium atrophy, iris or optic disc coloboma as well as congenital cataracts have been most frequently described until now. Therefore, we would like to report the first case of bilateral developmental cataract in a 9-year-old girl with MWS who underwent successful cataract surgery with intraocular lens implantation. Case Presentation: A 9-year-old girl, diagnosed with p.Gln694Ter mutation in ZEB2 gene and suspicion of MWS was referred to the Children’s Outpatient Ophthalmology Clinic for ophthalmological evaluation. Her previous assessments revealed abnormalities of the optic nerve discs. The patient was diagnosed with atrophy of the optic nerves, convergent strabismus, and with-the-rule astigmatism. One year later, during the follow-up visit, the patient was presented with decreased visual acuity (VA), developmental total cataract in the right eye and a developmental partial cataract in the left eye. This resulted in decreased VA confirmed by deteriorated responses in visual evoked potential (VEP) test. The girl underwent a two-stage procedure of cataract removal, first of one eye and then of the other eye with artificial lens implants. In the 2 years following the operation, no complications were observed and, most remarkably, VA improved significantly. Conclusions: The ZEB2 gene is primarily responsible for encoding the Smad interaction protein 1 (SIP1), which is involved in the proper development of various eye components. When mutated, it results in multilevel abnormalities, also in the proper lens formation, that prevent the child from normal vision development. This typically results in the formation of congenital cataracts in children with MWS syndrome, however, our case shows that it also leads to the formation of developmental cataracts. This is presumably due to the effect of the lack of SIP1 on other genes, altering their downstream expression and is a novel insight into the importance of the SIP1 in the occurrence of ocular pathologies. To the best of our knowledge, this is the first case of bilateral developmental cataract in the context of MWS. Moreover, a novel mutation (p.Gln694Ter) in the ZEB2 gene was found corresponding to this syndrome entity. This report allows us to gain a more comprehensive insight into the genetic spectrum and the corresponding phenotypic features in MWS syndrome patients.

This paper deals with the study of the physical properties of ZnO/ZnNb 2 O 6 /Nb 2 O 5 composite. X-ray diffraction (XRD) proves the coexistence of hexagonal ZnO, tetragonal Nb 2 O 5 and orthorhombic ZnNb 2 O 6. Scanning electron microscopy (SEM) observations reveals heterogenic distribution of grains with average size of about 456 nm. The dielectric measurements are performed in 20 Hz–1MHz frequency range between 150 °C and 350 °C. Theoretical fit demonstrates that the electric resistivity, associated to grains and grain boundaries, decreases as a function of temperature up to 275 °C. At 275 °C, the composite presents a semiconductor-metal transition, confirmed by the temperature-dependence of DC conductivity. Moreover, the AC conductivity variations suggest that the AC conduction mechanisms are explained by the Quantum-Mechanical Tunneling (QMT) model below 275 °C and the Non-Overlapping Small Polaron Tunneling (NSPT) one above 275 °C. Also, the activation energies, related to dielectric relaxation processes and DC conductivity, are almost equal: E a ~ 0.53eV in the interval 150 °C < T < 275 °C, and E a ~ −0.47eV for T > 275 °C. Moreover, the permittivity variations show the existence of interfacial Maxwell-Wagner-Sillars (MWS) and dipolar polarization. [ABSTRACT FROM AUTHOR]

A linear $ [n,k]_q $ code $ C $ is said to be a full weight spectrum (FWS) code if there exist codewords of each weight less than or equal to $ n $. In this brief communication we determine necessary and sufficient conditions for the existence of linear $ [n,k]_q $ full weight spectrum (FWS) codes. Central to our approach is the geometric view of linear codes, whereby columns of a generator matrix correspond to points in $ PG(k-1,q) $.

A linear [n; k]q code C is said to be a full weight spectrum (FWS) code if there exist codewords of each weight less than or equal to n. In this brief communication we determine necessary and sufficient conditions for the existence of linear [n; k]q full weight spectrum (FWS) codes. Central to our approach is the geometric view of linear codes, whereby columns of a generator matrix correspond to points in PG(k - 1; q). [ABSTRACT FROM AUTHOR]

Objective. Cryopyrin-associated periodic syndrome (CAPS) is a heterogeneous group of diseases char-acterized by excessive IL-1β release resulting in severe systemic and organ inflammation. Canakinumab targets IL-1β and is approved at standard dose for children and adults with all CAPS phenotypes. Limited data are available for the real-life effectiveness of canakinumab in patients living with CAPS. Therefore the aim of the study was to evaluate the real-life dosing and effectiveness of canakinumab in CAPS. Methods. A multi-centre study of consecutive children and adults with CAPS treated with canakinumab was performed. Demographics, CAPS phenotype and disease activity, inflammatory markers and canakinumab treatment strategy were recorded. Treatment response was assessed using CAPS disease activity scores, CRP and/or serum amyloid A levels. Comparisons between age groups, CAPS phenotypes and centres were conducted. Results. A total of 68 CAPS patients at nine centres were included. All CAPS phenotypes were represented. Thirty-seven (54%) patients were females, the median age was 25 years and 27 (40%) were children, and the median follow-up was 28 months. Overall, complete response (CR) was seen in 72% of CAPS patients, significantly less often in severe (14%) than in mild CAPS phenotypes (79%). Only 53% attained CR on standard dose canakinumab. Dose increase was more commonly required in children (56%) than in adults (22%). Centres with a treat-to-target approach had significantly higher CR rates (94 vs 50%). Conclusion. Real-life effectiveness of canakinumab in CAPS was significantly lower than in controlled trials. Treat-to-target strategies may improve the outcome of children and adults living with CAPS. [ABSTRACT FROM AUTHOR]

Cryopyrin-associated periodic syndrome are rare autosomal dominantly inherited diseases. They include three overlapping phenotypes: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurological cutaneous articular syndrome/neonatal onset multisystem autoinflammatory syndrome (NOMID/CINCA). Recurrent fevers, joint pain, and urticarial skin rash are the main clinical features of these conditions. Renal amyloidosis and sensorineural complications may occur. Gain-of-function mutations in NLRP3 gene are responsible for the overactivation of the NLRP3 inflammasome, a multimolecular complex involved in the inflammatory process. Missense mutations are almost always encountered, particularly in exon 3, which encodes the nucleotide-binding domain. Mosaicism is not rare, especially in CINCA/NOMID. Next-generation sequencing will grant access to new insights about NLRP3 implication in oligogenic and multifactorial diseases. [ABSTRACT FROM AUTHOR]

Mowat-Wilson syndrome is a rare congenital syndrome involving multiple system abnormalities. The most consistently present components include facial deformity, mental retardation, and Hirschsprung disease. We report the anesthetic management of a case of Mowat-Wilson syndrome, with a difficult airway, who underwent Duhamel's procedure and colostomy closure. [ABSTRACT FROM AUTHOR]

Abstract: The effect on process performance of adding increasing proportions of biodiesel waste glycerin (BWG) to municipal wastewater sludge (MWS) was studied using two 1300L pilot-scale digesters under mesophilic conditions at 20days SRT. The highest proportion of BWG that did not cause a process upset was determined to be 23% and 35% of the total 1.04kgVS/(m3 d) and 2.38kgCOD/(m3 d) loadings, respectively. At this loading, the biogas and methane production rates in the test digester were 1.65 and 1.83 times greater than of those in the control digester which received only MWS, respectively. The COD and VS removal rates at this loading in the test digester were 1.82 and 1.63-fold those of the control digester, respectively. Process instability was observed when the proportion of BWG in the test digester feed was 31% and 46% of the 1.18kgVS/(m3 d) and 2.88kgCOD/(m3 d) loadings, respectively. [Copyright &y& Elsevier]

The periodic syndromes represent a heterogeneous group of disorders that can be very difficult for practicing physicians to diagnosis and treat. This article presents an orderly approach to hyperimmunoglobulin D syndrome; tumor necrosis factor receptor-1 periodic syndrome; familial Mediterranean fever; periodic fever with aphthous stomatitis, pharyngitis, and adenitis syndrome; and cryopyrin-associated periodic syndromes by highlighting the disease presentation, diagnosis, pathogenesis, and treatment. Recent advances are also discussed. [ABSTRACT FROM AUTHOR]

Abstract: Three different types of new adsorbents modified from wheat straw were synthesized after the reaction between epichlorohydrin and triethylamine by using ethylenediamine (EDA), diethylenetriamine (DETA) and triethylenetetramine (TETA) as modifying agents. The performance of the modified wheat straws (MWS) was characterized by Fourier transform infrared spectroscopy (FTIR), scanning electron microscope (SEM) and elemental analysis. Results showed that the optimal dosages for the three modifying agent (EDA, DETA and TETA) were 3, 4 and 3ml. The optimum synthesis temperature for the three MWS was 80, 85 and 95°C, respectively. The IR spectra of the three MWS were analogical, and nitrogen contents of the MWS were found to be consistent with their adsorption capacity. The pseudo-second-order equation generated the best agreement with the experimental data for adsorption systems. In addition, the adsorption process of the three MWS reached equilibrium at 10–15min. MWS (EDA) demonstrated the largest phosphate capacity than the other MWS. [Copyright &y& Elsevier]

[Display omitted] • Epilepsy is hallmark of Mowat Wilson Syndrome occurring in all patients >5 years. • There is an age-dependent pattern, with electroclinical improvement in adolescence. • Focal seizures are the first and most prominent seizure type. • Focal seizures are often long-lasting and start with subtle clinical signs. • Valproic acid is the most used and effective antiepileptic drug in MWS, followed by levetiracetam. Epilepsy is a main feature of Mowat Wilson Syndrome (MWS), a congenital malformation syndrome caused by ZEB2 variants. The aim of this study was to investigate the long-term evolution of the electroclinical phenotype of MWS in a large population. Forty-individuals with a genetically confirmed diagnosis were enrolled. Three age groups were identified (t1 = 0–4; t2 = 5–12; t3 = >13 years); clinical data and EEG records were collected, analyzed, and compared for age group. Video-EEG recorded seizures were reviewed. Thirty-six of 40 individuals had epilepsy, of whom 35/35 aged >5 years. Almost all (35/36) presented focal seizures at onset (mean age at onset 3.4 ± 2.3 SD) that persisted, reduced in frequency, in 7/22 individuals after the age of 13. Absences occurred in 22/36 (mean age at onset 7.2 ± 0.9 SD); no one had absences before 6 and over 16 years old. Paroxysmal interictal abnormalities in sleep also followed an age-dependent evolution with a significant increase in frequency at school age (p = 0.002) and a reduction during adolescence (p = 0.008). Electrical Status Epilepticus during Sleep occurred in 14/36 (13/14 aged 5–13 years old at onset). Seven focal seizure ictal video-EEGs were collected: all were long-lasting and more visible clinical signs were often preceded by prolonged electrical and/or subtle (erratic head and eye orientation) seizures. Valproic acid was confirmed as the most widely used and effective drug, followed by levetiracetam. Epilepsy is a major sign of MWS with a characteristic, age-dependent, electroclinical pattern. Improvement with adolescence/adulthood is usually observed. Our data strengthen the hypothesis of a GABAergic transmission imbalance underlying ZEB2 -related epilepsy. [ABSTRACT FROM AUTHOR]

In a reanalysis of the Million Women Study (MWS), their authors concluded that prolonged use of hormone replacement therapy (HRT) in postmenopausal women increases the risk of ovarian cancer. Although statistically significant their results are clinically irrelevant, since the attributable risk over 5 years is only 4 per 10 000 HRT users, a figure that is not confirmed by other large studies. This risk is much lower than those associated with obesity, lack of physical exercise, smoking and nulliparity, all of which are preventable. Therefore HRT should continue to be prescribed for symptom relief and improvement of quality of life because the benefits far outweigh the very low potential risks. [ABSTRACT FROM AUTHOR]

: ObjectivesWe sought to compare systolic and diastolic function in American Indians with diabetes mellitus (DM) based on albuminuria status.: BackgroundAlbuminuria has been shown to predict cardiovascular disease (CVD) in populations with DM. However, the mechanism of the association of albuminuria and CVD is unclear.: MethodsWe compared echo-derived indices of left ventricular (LV) systolic and diastolic function in three groups of American Indians with DM based on albuminuria status: I = no albuminuria (<30 mg albumin/g creatinine); II = microalbuminuria (30 to 300 mg/g); and III = macroalbuminuria (>300 mg/g).: ResultsGroup II and III were slightly older than Group I with no significant gender difference between groups. Systolic blood pressure increased and body mass index decreased from Group I to Group III. Left ventricular systolic function was lower in the groups with albuminuria with step-wise decreases in ejection fraction and stress-corrected midwall shortening (MWS) from Group I to Group III. Similar findings were noted in diastolic LV filling with lower mitral E/A ratios and longer deceleration times in groups with albuminuria. The proportion of participants with abnormal MWS and abnormal LV diastolic relaxation showed step-wise increases from no albuminuria to macroalbuminuria. In multivariate analysis, albuminuria status remained independently associated with both systolic and diastolic dysfunction after adjusting for age, gender, body mass index, systolic blood pressure, duration of diabetes, coronary artery disease, and LV mass.: ConclusionsAlbuminuria is independently associated with LV systolic and diastolic dysfunction in type 2 DM; this may explain in part the relationship of albuminuria to increased cardiovascular (CV) events in the DM population. Screening for albuminuria identifies individuals with high CV risk and possible cardiac dysfunction. [Copyright &y& Elsevier]

The results of a measurement campaign conducted to determine the wideband behavior of the radio channel assigned to Multimedia Wireless Systems (MWS) are described in this Letter. It has been found that small multipath components are present in the impulsive response of radio channels operating at 40 GHz with 80-MHz bandwidths. Multipath and delay spread are limited by the spatial filtering of directive antennas used in MWS and the low reflection coefficient of building materials at these frequencies. © 2002 Wiley Periodicals, Inc. Microwave Opt Technol Lett 34: 224–227, 2002; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/mop.10423 [ABSTRACT FROM AUTHOR]

Languages have formulaic multiword sequences (MWSs) which occur repeatedly in speech and writing (e.g., Nattinger & DeCarrico, 1992; Siyanova-Chanturia & Pellicer-Sánchez, 2018). For learners, then, the production of MWSs is an important element in developing spoken language that is complex, accurate, and fluent. Though the use of MWSs is important for achieving spoken proficiency, it is unclear whether the production of MWSs supports or hinders another aspect of proficiency, lexical variety. This paper is an exploration of the production of MWSs (recurrent trigrams) and the development of lexical variety, found in 2-min speeches (n = 294) from English L2 learners (n = 66) over time in an intensive English program (IEP). Using hierarchical linear modeling and correlation analysis, we found different patterns of development for the two measures. The use of MWSs increased and then decreased while the lexical variety scores slightly decreased and then sharply increased over time in the IEP. Although the impact of MWSs on oral fluency has been studied, this seems to be the first study to consider how MWSs influence lexical variety across development. • Use of multi-word-sequences increased and then decreased over time. • Lexical variety scores slightly decreased and then sharply increased over time. • A negative relationship was found generally, but not for all learners. [ABSTRACT FROM AUTHOR]

New industrial processes must include circular integration and waste usage as raw materials, so that the environment can be preserved. Retrofit processes rely on material recycling to use waste raw material, to minimize emissions, and to produce sustainable products. This paper explores decision-making problems during sustainable raw material selection for effective existing production. Flue gas and municipal solid wastes are proposed for use as sustainable raw materials, thus minimizing waste, emissions, and fossil fuel consumption. I aim to develop a retrofitted applied technique to use raw material integration between plants. This technique provides several environmental benefits: • adapting existing processes operating with well-known technologies to use waste as raw materials • determining optimal and sustainable production rates and raw material consumption • including raw material circular integration between. The retrofitted applied technique was tested on existing methanol, formalin and urea formaldehyde resin processes, with replacement of natural gas with flue gas and municipal solid wastes as a raw material, generating an additional profit of 7.8 MEUR/a. Using flue gas could reduce CO 2 emissions by 1.9 106 kmol/a and thus contribute to environment protection. An applied retrofitting technique provides several environmental benefits: • adapting existing processes operating with well-known technologies to use waste as raw materials • determining optimal and sustainable production rates and raw material consumption • including raw material circular integration between. Flow-diagram of a retrofitted applied technique for different plants. ga1 • An applied retrofitting technique is presented for integration between plants. • This technique uses waste as raw materials. • This technique includes raw material circular integration between plants. • This technique determines optimal and sustainable product production. [ABSTRACT FROM AUTHOR]

• Sensors analysis. • Sensors response. • Performance of the XDK110 temperature sensor. This comment shows that the results and analysis related to the XDK110 temperature sensor presented in the "Implementation of a reliability test protocol for a multimeasurement sensor dedicated to industrial applications of the Internet of things" do not hold as asserted by the authors. The reason analysis is discussed in detail. [ABSTRACT FROM AUTHOR]

The cryopyrin-associated periodic syndromes (CAPS) are usually caused by heterozygous NLRP3 gene variants, resulting in excessive inflammasome activation with subsequent overproduction of interleukin (IL)-1β. The CAPS spectrum includes mild, moderate, and severe phenotypes. The mild phenotype is called familial cold autoinflammatory syndrome (FCAS), the moderate phenotype is also known as Muckle–Wells syndrome (MWS), and the neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous articular syndrome (CINCA) describes the severe phenotype. The CAPS phenotypes display unspecific and unique clinical signs. Dermatologic, musculoskeletal, ocular, otologic, and neurologic disease symptoms combined with chronic systemic inflammation are characteristic. Nevertheless, making the CAPS diagnosis is challenging as several patients show a heterogeneous multi-system clinical presentation and the spectrum of genetic variants is growing. Somatic mosaicisms and low-penetrance variants lead to atypical clinical symptoms and disease courses. To avoid morbidity and to reduce mortality, early diagnosis is crucial, and a targeted anti-IL-1 therapy should be started as soon as possible. Furthermore, continuous and precise monitoring of disease activity, organ damage, and health-related quality of life is important. This review summarizes the current evidence in diagnosis and management of patients with CAPS. [ABSTRACT FROM AUTHOR]

• A hardware and software test platform for a multi-measure wireless sensor is proposed. • A harsh test environment is set up to quantify the sensor multi-measure sensitivity. • New design of experiment based on dial method is proposed to ensure reliable measures. • Sensor performance is gradually decreasing when all measures are taken simultaneously. The Internet of things (IoT) is considering incorporating many wireless sensors into the same object to make it smart. To satisfy the main applications of IoT (smart building, smart city and industry 4.0), Multimeasurement Wireless Sensor (MWS) capable of simultaneously measuring several different environmental data (temperature, pressure, vibrations, etc.) are increasingly marketed. In these sensors, the same physical principle is used to acquire various data. From this, we propose in this paper a reliability test protocol for MWS. This study is more important in IoT applications since decision-making based on erroneous data from the sensor can lead to harmful, incorrect and costly actions. Depending on the different quantities measurable by the sensor, it is set up a test platform and the used analysis method is that by comparison of results with specific sensors to the measurement of a single physical data. Among the performance criteria of the sensors, it is considered in this paper those related to the stability of the sensor, its response time, its reaction in hard environments and finally the inter-influence between the different controlled data. To evaluate the correlation between the different physical quantities under control, a method called the dial method, inspired by the Taguchi method is proposed. The method is to define an acceptable tolerance and analyze the behavior of one measure when the other measurand fluctuates between two previously defined extreme values. The MWS considered in this work is the XDK110 sensor designed and marketed by Bosch Rexroth. This sensor allows measuring eight different physical quantities. A comparison between the values obtained from the test platform with those proposed by the manufacturer is made. It is observed, for example, for a normal temperature level, that the measured magnetic field is highly sensitive to strong vibrations whereas in the case of high temperatures the indicated value is quite close to the standard amount. From these observations, solutions are suggested to the designers and users, one of the main being the development of correction algorithms to be integrated into the MWS. [ABSTRACT FROM AUTHOR]

Individuals with Mowat-Wilson syndrome (MWS; OMIM#235730) have characteristic facial features, a variety of congenital anomalies such as Hirschsprung disease, and intellectual disabilities caused by mutation or deletion of ZEB2 gene. This deletion or cytogenetic abnormality has been reported primarily from Europe, Australia and the United States, but not in Korea. Here we report a patient with characteristic facial features of MWS, developmental delay and spasticity. High resolution microarray analysis revealed 0.9 Mb deletion of 2q22.3 involving two genes: ZEB2 and GTDC1. This case shows the important role of high resolution microarray in patients with unexplained psychomotor retardation and/or facial dysmorphism. Knowledge about the most striking clinical signs and implementation of effective molecular tests like microarray could significantly increase the detection rate of new cases of MWS in Korea. This is the first reported case of MWS in Korea., (© 2013.)

Objective: To investigate the effectiveness of a home-based multiple-speed treadmill training program to improve gait performance in persons with a transfemoral amputation (TFA)., Design: Repeated measures., Setting: Research laboratory., Participants: Individuals with a TFA (N=8) who had undergone a unilateral amputation at least 3 years prior as a result of limb trauma or cancer., Intervention: Home-based treadmill walking for a total of 30 minutes a day, 3 days per week for 8 weeks. Each 30-minute training session involved 5 cycles of walking for 2 minutes at 3 speeds., Main Outcome Measures: Participants were tested pretraining and after 4 and 8 weeks of training. The primary measures were temporal-spatial gait performance (symmetry ratios for stance phase duration and step length), physiological gait performance (energy expenditure and energy cost), and functional gait performance (self-selected walking speed [SSWS], maximum walking speed [MWS], and 2-minute walk test [2MWT])., Results: Eight weeks of home-based training improved temporal-spatial gait symmetry at SSWS but not at MWS. A relative interlimb increase in stance duration for the prosthetic limb and proportionally greater increases in step length for the limb taking shorter steps produced the improved symmetry. The training effect was significant for the step length symmetry ratio within the first 4 weeks of the program. Energy expenditure decreased progressively during the training with nearly 10% improvement observed across the range of walking speeds. SSWS, MWS, and 2MWT all increased by 16% to 20%., Conclusions: Home-based treadmill walking is an effective method to improve gait performance in persons with TFA. The results support the application of training interventions beyond the initial rehabilitation phase, even in individuals considered highly functional., (Copyright © 2013 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.)