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2022 ◽  
Vol 23 (2) ◽  
pp. 953
Author(s):  
Anna Jaruga ◽  
Jakub Ksiazkiewicz ◽  
Krystian Kuzniarz ◽  
Przemko Tylzanowski

Many complex molecular interactions are involved in the process of craniofacial development. Consequently, the network is sensitive to genetic mutations that may result in congenital malformations of varying severity. The most common birth anomalies within the head and neck are orofacial clefts (OFCs) and prognathism. Orofacial clefts are disorders with a range of phenotypes such as the cleft of the lip with or without cleft palate and isolated form of cleft palate with unilateral and bilateral variations. They may occur as an isolated abnormality (nonsyndromic—NSCLP) or coexist with syndromic disorders. Another cause of malformations, prognathism or skeletal class III malocclusion, is characterized by the disproportionate overgrowth of the mandible with or without the hypoplasia of maxilla. Both syndromes may be caused by the presence of environmental factors, but the majority of them are hereditary. Several mutations are linked to those phenotypes. In this review, we summarize the current knowledge regarding the genetics of those phenotypes and describe genotype–phenotype correlations. We then present the animal models used to study these defects.


2022 ◽  
Vol 12 ◽  
Author(s):  
Hasan Kolkas ◽  
Thierry Balliau ◽  
Josiane Chourré ◽  
Michel Zivy ◽  
Hervé Canut ◽  
...  

Primary plant cell walls are composite extracellular structures composed of three major classes of polysaccharides (pectins, hemicelluloses, and cellulose) and of proteins. The cell wall proteins (CWPs) play multiple roles during plant development and in response to environmental stresses by remodeling the polysaccharide and protein networks and acting in signaling processes. To date, the cell wall proteome has been mostly described in flowering plants and has revealed the diversity of the CWP families. In this article, we describe the cell wall proteome of an early divergent plant, Marchantia polymorpha, a Bryophyte which belong to one of the first plant species colonizing lands. It has been possible to identify 410 different CWPs from three development stages of the haploid gametophyte and they could be classified in the same functional classes as the CWPs of flowering plants. This result underlied the ability of M. polymorpha to sustain cell wall dynamics. However, some specificities of the M. polymorpha cell wall proteome could be highlighted, in particular the importance of oxido-reductases such as class III peroxidases and polyphenol oxidases, D-mannose binding lectins, and dirigent-like proteins. These proteins families could be related to the presence of specific compounds in the M. polymorpha cell walls, like mannans or phenolics. This work paves the way for functional studies to unravel the role of CWPs during M. polymorpha development and in response to environmental cues.


2022 ◽  
Vol 9 (2) ◽  
pp. e1120
Author(s):  
Omar Al-Louzi ◽  
Vijay Letchuman ◽  
Sargis Manukyan ◽  
Erin S. Beck ◽  
Snehashis Roy ◽  
...  

Background and ObjectivesThe central vein sign (CVS), a central linear hypointensity within lesions on T2*-weighted imaging, has been established as a sensitive and specific biomarker for the diagnosis of multiple sclerosis (MS). However, the CVS has not yet been comprehensively studied in newly developing MS lesions. We aimed to identify the CVS profiles of new white matter lesions in patients with MS followed over time and investigate demographic and clinical risk factors associated with new CVS+ or CVS− lesion development.MethodsIn this retrospective longitudinal cohort study, adults from the NIH MS Natural History Study were considered for inclusion. Participants with new T2 or enhancing lesions were identified through review of the radiology report and/or longitudinal subtraction imaging. Each new lesion was evaluated for the CVS. Clinical characteristics were identified through chart review.ResultsA total of 153 adults (95 relapsing-remitting MS, 27 secondary progressive MS, 16 primary progressive MS, 5 clinically isolated syndrome, and 10 healthy; 67% female) were included. Of this cohort, 96 had at least 1 new T2 or contrast-enhancing lesion during median 3.1 years (Q1–Q3: 0.7–6.3) of follow-up; lesions eligible for CVS evaluation were found in 62 (65%). Of 233 new CVS-eligible lesions, 159 (68%) were CVS+, with 30 (48%) individuals having only CVS+, 12 (19%) only CVS−, and 20 (32%) both CVS+ and CVS− lesions. In gadolinium-enhancing (Gd+) lesions, the CVS+ percentage increased from 102/152 (67%) at the first time point where the lesion was observed, to 92/114 (82%) after a median follow-up of 2.8 years. Younger age (OR = 0.5 per 10-year increase, 95% CI = 0.3–0.8) and higher CVS+ percentage at baseline (OR = 1.4 per 10% increase, 95% CI = 1.1–1.9) were associated with increased likelihood of new CVS+ lesion development.DiscussionIn a cohort of adults with MS followed over a median duration of 3 years, most newly developing T2 or enhancing lesions were CVS+ (68%), and nearly half (48%) developed new CVS+ lesions only. Importantly, the effects of edema and T2 signal changes can obscure small veins in Gd+ lesions; therefore, caution and follow-up is necessary when determining their CVS status.Trial Registration InformationClinical trial registration number NCT00001248.Classification of EvidenceThis study provides Class III evidence that younger age and higher CVS+ percentage at baseline are associated with new CVS+ lesion development.


2022 ◽  
Vol 11 ◽  
pp. 270-278
Author(s):  
Ahmet Karaman ◽  
Esra Genc

Objectives: The purpose of this study was to evaluate the facial soft tissue and craniofacial morphological structures in adolescent obese individuals with different skeletal patterns. Materials and Methods: The study was carried out on 292 adolescents examined under three groups based on their body mass indexes (BMIs) as obese, healthy, and overweight. The subjects were also categorized based on skeletal classes as Class I, Class II, and Class III. Results: The glabella, nasion, labiale inferius, labiomentale, and pogonion values of the female patients were significantly higher in obese group. In the obese and overweight groups, effective midfacial and mandibular length, anterior and posterior facial heights, and SN values of the females were higher than males. In the obese group, the mean effective midfacial and mandibular length (Co-A and Co-Gn), anterior and posterior facial heights (S-Go and N-Me), and anterior cranial base (SN) values were significantly higher than other groups. Conclusion: Soft-tissue thicknesses increase as BMI value increases. Craniofacial morphology reveals significant differences between BMI groups.


Author(s):  
Monica Macrì ◽  
Elena Toniato ◽  
Giovanna Murmura ◽  
Giuseppe Varvara ◽  
Felice Festa

The aim of this paper was to evaluate the changes in the mean bone density values of the midpalatal suture in 392 young patients treated with the Rapid Palatal Expander appliance according to sex, gender, vertical and sagittal skeletal patterns. Materials and Methods. The evaluations were performed using the low-dose protocol cone-beam computed tomography scans at t0 (preoperatively) and t1 (1 year after the beginning of the therapy). The region of interest was used to calculate bone density in Hounsfield units (HU) in the area between the maxillary incisors. Results. CBCT scan data of 196 females and 196 males (mean age of 11,7 years) showed homogeneous and similar density values of the MPS at T0 (547.59 HU - 565.85 HU) and T1 (542.31 - 554.20 HU). Class III skeletal individuals showed a significant higher BD than the II class group at T0, but not at T1. Females showed significantly higher BD than males at t0 and t1. No significant differences were found between the other groups and between two-time points in terms of bone density values of the MPS. Conclusions. Females and III class groups showed significantly higher bone density values than males and II class, respectively. No statistically significant differences were found from T0 to T1 in any groups, suggesting that a similar rate of suture reorganization occurs after the use of the RPE, following reorganization and bone deposition along with the MPS.


Author(s):  
Ali AlSahow ◽  
Abdullah Al-Muhaiteeb ◽  
Hani Nawar ◽  
Bassam AlHelal ◽  
Anas AlYousef ◽  
...  

Objectives: We review rituximab (RTX) use and outcomes in immune-mediated glomerular diseases (GN) and compare it to established literature. Methods: Adult GN patients who received RTX between January 2014 and January 2018 in three public hospitals were reviewed. Membranous nephropathy (MN) and minimal change disease (MCD) were considered diseases with literature supporting RTX use. Lupus nephritis (LN), 1o focal segmental glomerulosclerosis (1o FSGS), IgA nephropathy (IgAN), IgG4 related disease, and C3GN had insufficient literature support for RTX use. Clinical Remission was assessed six months after receiving RTX. Results: A total of 61 cases analyzed. RTX was an add on therapy in 87%. Remission rate was 95% in MCD and MN vs. 56 % in off-label group (P=.002). LN patients had a mean initial eGFR of 69mL/min. All class III LN achieved remission, and 11 of 21 class IV achieved remission. Mean initial eGFR for 1o FSGS was 33mL/min and it did not improve, and only 2 of 5 had partial resolution of proteinuria. Proteinuria improved in 3 of 5 IgG4-related disease cases with eGFR stabilization but failed to improve in C3GN cases with eGFR deterioration. Vasculitis cases (6 ANCA-associated vasculitis and 2 IgA vasculitis) were analyzed separately. Remission achieved in only 2 ANCA vasculitis cases, and none in IgA vasculitis cases. Conclusion: Our data support RTX use in resistant MCD and MN. RTX showed success in LN and IgG4 related disease, but not FSGS or C3GN. The small vasculitis cases number does not allow drawing a conclusion on RTX effectiveness.


Author(s):  
Ashkan Afshari ◽  
Lyly Nguyen ◽  
Gabriella E Glassman ◽  
Galen Perdikis ◽  
James C Grotting ◽  
...  

Abstract Background While there are many indications for periprosthetic breast capsulectomy, heightened public attention surrounding breast implant illness has resulted in increased rates of capsulectomy. Objectives This study aims to identify the incidence of major complications and risk factors associated with capsulectomy. Methods Using a prospectively enrolled cosmetic surgery insurance database, CosmetAssure (Birmingham, AL, USA), patients undergoing capsulectomy between January 2, 2017 and July 31, 2019 were identified. Outcomes measured included the occurrence of and risk factors for major complication(s) necessitating an emergency department visit, hospitalization, or reoperation within 45 postoperative days. Results Among 76,128 patients evaluated, 3048 (4.0%) underwent capsulectomy. There was a significant increase in number of capsulectomies following January 6, 2019 (2.7/day vs 5.2/day, p<0.05). Capsulectomy patients had more likely to have any complication and specifically hematoma than those undergoing breast implant removal or replacement without capsulectomy (2.8% vs 1.9% and 1.6% vs 0.9%, respectively, p<0.05). Eighty-four (2.8%) developed at least one complication. The most common complications included hematoma (1.6%) followed by infection (0.5%). ASA class III/IV was an independent risk factor for any complication and BMI ≥30 and office-based surgical suites were risk factors for infection. Conclusions There is a growing number of capsulectomies being performed. The most common major complication is hematoma. Patients undergoing capsulectomy confer a higher complication rate compared to those undergoing breast implant removal or replacement without capsulectomy. Patients should be counseled regarding the potential for major complications.


2022 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Rajkumar Bhimgonda Patil ◽  
Suyog Subhash Patil ◽  
Gajanand Gupta ◽  
Anand K. Bewoor

PurposeThe purpose of this paper is to carry out a reliability analysis of a mechanical system considering the degraded states to get a proper understanding of system behavior and its propagation towards complete failure.Design/methodology/approachThe reliability analysis of computerized numerical control machine tools (CNCMTs) using a multi-state system (MSS) approach that considers various degraded states rather than a binary approach is carried out. The failures of the CNCMT are classified into five states: one fully operational state, three degraded states and one failed state.FindingsThe analysis of failure data collected from the field and tests conducted in the laboratory provided detailed understandings about the quality of the material and its failure behavior used in designing and the capability of the manufacturing system. The present work identified that Class II (major failure) is critical from a maintainability perspective whereas Class III (moderate failure) and Class IV (minor failure) are critical from a reliability perspective.Research limitations/implicationsThis research applies to reliability data analysis of systems that consider various degraded states.Practical implicationsMSS reliability analysis approach will help to identify various degraded states of the system that affect the performance and productivity and also to improve system reliability, availability and performance.Social implicationsIndustrial system designers recognized that reliability and maintainability is a critical design attribute. Reliability studies using the binary state approach are insufficient and incorrect for the systems with degraded failures states, and such analysis can give incorrect results, and increase the cost. The proposed MSS approach is more suitable for complex systems such as CNCMT rather than the binary-state system approach.Originality/valueThis paper presents a generalized framework MSS's failure and repair data analysis has been developed and applied to a CNCMT.


Author(s):  
Xiaohui QI ◽  
Bin CUI ◽  
Min CAO

Abstract Context Cortisol, an important hormone regulated by the hypothalamic-pituitary-adrenal (HPA) axis, is associated with obesity. However, it is unclear whether the relationship between cortisol and obesity is causal or could be explained by reverse causality. Objective This work aims to assess the role of morning plasma cortisol in clinical classes of obesity. Methods In this bi-directional two-sample Mendelian Randomization (MR) study, cortisol-associated genetic variants were obtained from the CORtisol NETwork consortium (n = 12,597). The primary outcomes were obesity class I (BMI ≥ 30 kg/m 2), class II (BMI ≥ 35 kg/m 2), and class III (BMI ≥ 40kg/m 2). Inverse variance weighting (IVW) method was used as the main analysis, with weighted median, MR-Egger, and MR-PRESSO as sensitivity analyses. Conversely, genetic variants predicting clinical classes of obesity were applied to the cortisol GWAS. Results Genetically predicted cortisol was associated with reduced risk of obesity class I (OR = 0.905; 95% CI, 0.865-0.946; p < 0.001). Evidence from bi-directional MR showed that obesity class II and class III were associated with lower cortisol levels ((class II-cortisol OR = 0.953; 95% CI, 0.923-0.983; p = 0.002); (class III-cortisol OR = 0.955; 95% CI, 0.942-0.967; p < 0.001)), indicating reverse causality between cortisol and obesity. Conclusions This study demonstrates that cortisol is negatively associated with obesity and vice versa. Together, these findings suggest that blunted morning plasma cortisol secretion may be responsible for severe obesity. Regulating morning plasma secretion might be a prevention measure for obese people.


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