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1.
J Pediatr Surg ; : 161925, 2024 Sep 14.
Article in English | MEDLINE | ID: mdl-39366798

ABSTRACT

BACKGROUND: Chronic constipation and fecal incontinence are devastating problems for patients with anorectal malformations, Hirschsprung's disease, idiopathic constipation, and spina bifida/spinal cord injuries. Finding the proper regimen allows these patients to be out of diapers and free of stool accidents. A typical bowel management regimen consists of daily laxatives or enemas; because these products are sold over the counter, insurance companies do not cover them. This study reviews the cost of bowel regimens and analyzes their economic impact on the families we treat. METHODS: A retrospective review of patients undergoing bowel management between January 2016 and September 2023 was done. The mean annual income of families was calculated using their zip codes. RESULTS: Upon review, 430 patients met inclusion criteria; 167 were on laxatives, and 263 were using enemas. There was significant variation in the cost of medications based on the distributors they were bought from and the dose of the medication in their regimen. The cost of laxatives ranged from $15.70 to $2938.10 annually. The cost of enemas containing glycerin ranged from $29.20 to $4380.00 annually. In comparison, diapers/incontinence briefs ranged from $131.40 to $4343.50 annually. The median annual income of patients across 41 states ranged from $32,192 to $225,119. CONCLUSIONS: Our findings emphasize the importance of proper counseling families regarding medication costs in the market, intending to promote long-term treatment adherence. They also serve as a data source to advocate for improved insurance coverage of the medications required to manage these chronic conditions successfully. LEVEL OF EVIDENCE: IV.

3.
Cureus ; 16(8): e66893, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39280379

ABSTRACT

Gallstone ileus is a rare but potentially serious complication of gallstone disease, which presents as a mechanical intestinal obstruction due to impaction and fistulization of a gallstone, most commonly in the small intestine. Since it usually occurs in elderly patients, the symptoms can be very diverse and with a late presentation. We present the case of a 90-year-old patient with intestinal obstruction and acute abdominal pain who experienced gallstone ileus and underwent surgery, and a few days after being discharged returned with a recurrence of the symptoms, was re-operated, and a second stone was found.

4.
Nano Lett ; 24(38): 11793-11799, 2024 Sep 25.
Article in English | MEDLINE | ID: mdl-39271139

ABSTRACT

Considering the increasing production of engineered nanomaterials (ENMs), new approach methodologies (NAMs) are essential for safe-by-design approaches and risk assessment. Our aim was to enhance screening strategies with a focus on reactivity-triggered toxicities. We applied in vitro tests to 10 selected benchmark ENMs in two cell models, lung epithelial A549 and differentiated THP-1 macrophage-like cells. Previously, we categorized ENMs based on surface reactivity. Here we elucidated their reactivity-triggered cytotoxicity and mode of action using the WST-1 assay (metabolic activity), LDH assay (cell membrane integrity), autophagosome detection, and proteomics. Nonreactive SiO2 NM-200 showed no significant impact on cell viability. Conversely, highly reactive CuO and ZnO (NM-110 and NM-111) disrupted cell homeostasis. Interestingly, moderately reactive TiO2 (NM-101 and NM-105) and CeO2 (NM-211 and NM-212), apparently without an adverse effect, induced autophagosome formation, evidencing autophagy as a defensive mechanism. Our improved in vitro testing strategy, combined with state-of-the-art reactivity information, screens ENMs for potential reactivity-triggered toxicity.


Subject(s)
Autophagy , Cell Survival , Homeostasis , Nanostructures , Humans , Autophagy/drug effects , Homeostasis/drug effects , Nanostructures/chemistry , Nanostructures/toxicity , Cell Survival/drug effects , A549 Cells , Zinc Oxide/chemistry , Zinc Oxide/toxicity , Titanium/chemistry , Titanium/toxicity , Silicon Dioxide/chemistry , THP-1 Cells , Copper/toxicity , Copper/chemistry , Cerium
5.
Sci Rep ; 14(1): 19049, 2024 08 17.
Article in English | MEDLINE | ID: mdl-39152190

ABSTRACT

Patients recovering from COVID-19 commonly exhibit cognitive and brain alterations, yet the specific neuropathological mechanisms and risk factors underlying these alterations remain elusive. Given the significant global incidence of COVID-19, identifying factors that can distinguish individuals at risk of developing brain alterations is crucial for prioritizing follow-up care. Here, we report findings from a sample of patients consisting of 73 adults with a mild to moderate SARS-CoV-2 infection without signs of respiratory failure and 27 with infections attributed to other agents and no history of COVID-19. The participants underwent cognitive screening, a decision-making task, and MRI evaluations. We assessed for the presence of anosmia and the requirement for hospitalization. Groups did not differ in age or cognitive performance. Patients who presented with anosmia exhibited more impulsive alternative changes after a shift in probabilities (r = - 0.26, p = 0.001), while patients who required hospitalization showed more perseverative choices (r = 0.25, p = 0.003). Anosmia correlated with brain measures, including decreased functional activity during the decision-making task, thinning of cortical thickness in parietal regions, and loss of white matter integrity. Hence, anosmia could be a factor to be considered when identifying at-risk populations for follow-up.


Subject(s)
Anosmia , Brain , COVID-19 , Magnetic Resonance Imaging , SARS-CoV-2 , Humans , COVID-19/complications , COVID-19/psychology , COVID-19/physiopathology , COVID-19/diagnostic imaging , COVID-19/pathology , Anosmia/etiology , Anosmia/physiopathology , Male , Female , Middle Aged , Adult , Brain/diagnostic imaging , Brain/pathology , Brain/physiopathology , SARS-CoV-2/isolation & purification , Aged , Decision Making , Cognition/physiology
7.
Sci Rep ; 14(1): 19865, 2024 08 27.
Article in English | MEDLINE | ID: mdl-39191882

ABSTRACT

To investigate the effects of temperature on Brassica napus (canola) resistance to Leptosphaeria maculans (LM), the causal agent of blackleg disease, metabolic profiles of LM infected resistant (R) and susceptible (S) canola cultivars at 21 °C and 28 °C were analyzed. Metabolites were detected in cotyledons of R and S plants at 48- and 120-h post-inoculation with LM using UPLC-QTOF/MS. The mock-inoculated plants were used as controls. Some of the resistance-related specific pathways, including lipid metabolism, amino acid metabolism, carbohydrate metabolism, and aminoacyl-tRNA biosynthesis, were down-regulated in S plants but up-regulated in R plants at 21 °C. However, some of these pathways were down-regulated in R plants at 28 °C. Amino acid metabolism, lipid metabolism, alkaloid biosynthesis, phenylpropanoid biosynthesis, and flavonoid biosynthesis were the pathways linked to combined heat and pathogen stresses. By using network analysis and enrichment analysis, these pathways were identified as important. The pathways of carotenoid biosynthesis, pyrimidine metabolism, and lysine biosynthesis were identified as unique mechanisms related to heat stress and may be associated with the breakdown of resistance against the pathogen. The increased susceptibility of R plants at 28 °C resulted in the down-regulation of signal transduction pathway components and compromised signaling, particularly during the later stages of infection. Deactivating LM-specific signaling networks in R plants under heat stress may result in compatible responses and deduction in signaling metabolites, highlighting global warming challenges in crop disease control.


Subject(s)
Brassica napus , Disease Resistance , Metabolomics , Plant Diseases , Brassica napus/metabolism , Brassica napus/microbiology , Plant Diseases/microbiology , Metabolomics/methods , Temperature , Leptosphaeria/metabolism , Gene Expression Regulation, Plant , Metabolome
8.
J Contemp Dent Pract ; 25(4): 392-401, 2024 Apr 01.
Article in English | MEDLINE | ID: mdl-38956856

ABSTRACT

AIM: To elucidate the factors that determine the success of direct pulp capping (DPC) in permanent teeth with pulp exposure due to dental caries. MATERIALS AND METHODS: A comprehensive electronic search from 1980 to 2023 across PubMed, Scopus, and ISI Web databases was conducted using specific keywords and MeSH terms in Q1 or Q2 journals. Only prospective/retrospective clinical studies in English on 15 or more human permanent teeth with carious pulpal exposure treated with DPC agents-mineral trioxide aggregate (MTA), Biodentine, or calcium hydroxide with a rubber dam and minimum 1-year follow-up, were considered. The factors retrieved and analyzed were based on study design, patient age, sample size, type of cavity, exposure size and location, pulp diagnosis, solutions to achieve hemostasis, hemostasis time, capping material, restoration type, follow-up period, methods of evaluation, and overall success. REVIEW RESULTS: Out of 680 articles, only 16 articles were selected for the present systematic review on application of the selection criteria. A wide age range of patients from 6 to 88 years were considered among these studies with sample sizes ranging from 15 to 245 teeth with reversible pulpitis being the predominant diagnosis of the cases. Mineral trioxide aggregate as a capping material was evaluated in 4 studies as a lone agent, while compared with other capping agents such as biodentine or calcium hydroxide in 7 studies. The follow-up period ranged from 9 days to nearly 80 months. While both clinical and radiographic evaluation was carried out in all studies, cold testing dominated the clinical tests while IOPR was the common radiograph considered. Mineral trioxide aggregate success rate was higher and similar to biodentine than calcium hydroxide. CONCLUSION: Direct pulp capping has a high and predictable success rate in permanent teeth with carious exposure to reversible and irreversible pulpitis. Currently, mineral trioxide aggregate and biodentine have better long-term results in DPC than calcium hydroxide, hence, they should be used as an alternative to calcium hydroxide. Definitive restoration within a short period improves long-term prognosis. CLINICAL SIGNIFICANCE: The significance of this review lies in its provision of evidence-based information on the effectiveness of DPC and the factors that influence its success. By considering these factors, clinicians can optimize treatment outcomes and improve the long-term prognosis of the treated teeth. This systematic review serves as a valuable resource for clinicians and researchers in the field of endodontics. How to cite this article: Gomez-Sosa JF, Granone-Ricella M, Rosciano-Alvarez M, et al. Determining Factors in the Success of Direct Pulp Capping: A Systematic Review. J Contemp Dent Pract 2024;25(4):392-401.


Subject(s)
Calcium Compounds , Dental Caries , Dental Pulp Capping , Humans , Dental Pulp Capping/methods , Dental Caries/therapy , Calcium Compounds/therapeutic use , Silicates/therapeutic use , Calcium Hydroxide/therapeutic use , Pulp Capping and Pulpectomy Agents/therapeutic use , Oxides/therapeutic use , Aluminum Compounds/therapeutic use , Drug Combinations , Treatment Outcome , Dental Pulp Exposure/therapy
9.
Int J Dent ; 2024: 5945033, 2024.
Article in English | MEDLINE | ID: mdl-38957372

ABSTRACT

Objective: To evaluate the solubility and the volumetric and morphological alterations of bioceramic filling material (Bio-CP) for primary teeth. Materials and Methods: Bio-CP, Calen thickened with zinc oxide (Calen-ZO), and with zinc oxide eugenol (ZOE) were placed in 1- or 2-mm-diameter polyethylene tubes and immersed in water or phosphate-buffered saline (PBS) for 30 days. The solubility (mass loss) was assessed using methodology modified from ISO 6876. Filling capacity, volumetric changes, and presence of voids were assessed by microcomputed tomography (micro-CT). The surface distribution of the chemical elements and the crystalline phases was evaluated by energy scattering X-ray scanning electron microscopy (SEM-EDX) and X-ray diffraction (XRD) to detect hydroxyapatite precipitate and components. The Shapiro-Wilk, Kruskal-Wallis, and Dunn's or two-way ANOVA and Tukey post hoc test were used (α = 0.05). Results: The solubility was ZOE > Calen-ZO = Bio-CP. Calen-ZO and Bio-CP were more soluble in water than in PBS. All the materials showed greater solubility in 2-mm tube diameter in both PBS and distilled water, except for Bio-CP in distilled water, which showed no difference between both tube diameters (1 and 2 mm). Only Calen-ZO and ZOE were analyzed by micro-CT, because Bio-CP separated into two phases during scanning. Calen-ZO had greater volumetric loss and presence of voids than ZOE in water, but there was no difference in PBS. The hydroxyapatite precipitate on the surface of Bio-CP and Calen-ZO was detected after immersion in PBS. Conclusion: Although Bio-CP had acceptable solubility and filling capacity, its composition did not allow a proper volumetric and void assessment. From a clinical perspective, Bio-CP has the potential to become a suitable material for root canal filling in primary teeth. Nonetheless, its composition must first be revised to achieve better chemical stability prior to its recommendation.

10.
Dermatol Online J ; 30(2)2024 Apr 15.
Article in English | MEDLINE | ID: mdl-38959929

ABSTRACT

Cutaneous granulomatous reactions are diverse, both from the clinical and the pathological perspective. Most underlying pathophysiological aspects remain elusive. Interstitial granulomatous dermatitis and palisaded neutrophilic and granulomatous dermatitis have been claimed to be reactions to systemic disorders, such as infectious, inflammatory, or neoplastic conditions. Recently, the overarching term "reactive granulomatous dermatitis" has been coined to unify both entities. We herein report two cases of reactive granulomatous dermatitis presenting with the widely known, albeit infrequent "rope sign" and provide clinicopathological correlation. The two patients included a 53-year-old woman with enlarging erythematous plaques and underlying palpable cords on both sides of trunk near axillae (rope sign), and a 51-year-old woman with personal history of rheumatoid arthritis and a palpable cord on the left aspect of the trunk. Pathological findings were compatible with reactive granulomatous dermatitis in both cases. In conclusion, the rope sign represents a strikingly infrequent but decisive diagnostic clue of reactive granulomatous dermatitis.


Subject(s)
Granuloma , Humans , Female , Middle Aged , Granuloma/pathology , Granuloma/diagnosis , Dermatitis/pathology , Dermatitis/diagnosis
11.
Ophthalmic Genet ; 45(5): 532-536, 2024 Oct.
Article in English | MEDLINE | ID: mdl-38956867

ABSTRACT

BACKGROUND: Fleck corneal dystrophy (FCD) is a rare autosomal dominant disease that affects exclusively the corneal stroma. The disease is caused by heterozygous variants in PIKFYVE, a gene encoding a lipid kinase involved in multiple cellular pathways, primarily participating in membrane dynamics and signaling. This report describes a familial case of FCD caused by a complete deletion of the PIKFYVE gene. MATERIAL AND METHODS: A clinical ophthalmic examination was performed on the proband and family members. Genetic testing included next-generation sequencing (multigene panel), and chromosomal microarray analysis. A quantitative PCR assay was designed in order to segregate the deletion. RESULTS: A 19-year-old male, with no family or personal history of ocular disease, presented for evaluation due to an acute illness consisting of burning, foreign body sensation, and red eye. Slit lamp biomicroscopy revealed bilateral small pterygia and scattered bilateral white opacities in the corneal stroma, a very similar corneal phenotype was found in the 47-year-old father, who was asymptomatic. NGS detected a heterozygous deletion of the entire PIKFYVE coding sequence. CMA in DNA from the propositus indicated a 543 kb deletion in 2q33.3q34 spanning the entire PIKFYVE gene. The deletion was confirmed in the father. CONCLUSIONS: We add to the molecular spectrum of FCD by describing a familial case of a whole PIKFYVE gene deletion in affected subjects. Our findings support that normal expression of PIKFYVE is necessary for corneal keratocytes homeostasis and normal corneal appearance. We conclude that PIKFYVE haploinsufficiency is the molecular mechanism underlying this familial case of FCD.


Subject(s)
Corneal Dystrophies, Hereditary , Pedigree , Phosphatidylinositol 3-Kinases , Humans , Male , Young Adult , Corneal Dystrophies, Hereditary/genetics , Corneal Dystrophies, Hereditary/diagnosis , Phosphatidylinositol 3-Kinases/genetics , Middle Aged , Gene Deletion , Female , Adult , Sequence Deletion , High-Throughput Nucleotide Sequencing
12.
Am J Occup Ther ; 78(4)2024 Jul 01.
Article in English | MEDLINE | ID: mdl-38848283

ABSTRACT

IMPORTANCE: There is a need for tools to measure adults' playfulness in reference to parent-child joint play. OBJECTIVE: To (1) develop items for the Scale of Parental Playful Attitude (PaPA), (2) evaluate evidence for validity based on content, and (3) evaluate evidence for validity based on the response process. DESIGN: A mixed-methods design with three phases: (1) development of the first draft of the PaPA (based on the literature, focus groups, and semistructured interviews), (2) review by experts and revision of the first draft, and (3) cognitive interviews with parents. SETTING: Various (e.g., schools, a university). PARTICIPANTS: Phase 1 had 32 participants: 13 parents of children ages 2.5-6 yr without major diagnosed conditions; 8 parents of autistic children age 4-7 yr; and 11 preschoolers age 3-5 yr. Phase 2 involved 10 experts. Phase 3 had 5 participants: 3 mothers and 2 fathers of children ages 2.5-6 yr; 1 child was autistic. OUTCOMES AND MEASURES: Interview protocols and experts' review form. RESULTS: Phase 1 involved the initial item development. Extrinsic motivation and barriers to play emerged as important areas to include. Experts' review enhanced representation of the construct of playfulness. Content validity index values ranged from .78 to 1.00. Cognitive interviews provided insights into parents' comprehension of PaPA items. CONCLUSIONS AND RELEVANCE: Validity related to test content and the response process was supported. Additional sources of validity testing are necessary. Plain-Language Summary: Adult playfulness is critical for both the child and the parent, especially for developing a deeper connection. The Scale of Parental Playful Attitude (PaPA) assesses parents' self-perceptions of their playfulness when playing with their child. The study authors developed the PaPA (in both English and Spanish) to address a lack of tools for assessing how parents perceive their own playfulness relative to their child's playfulness. Understanding how parents perceive their own playful attitudes can create opportunities for occupational therapists to guide parents to approach play with an attitude that is as attuned as possible to their child's playfulness. Future validity studies are needed to support the clinical use of the PaPA.


Subject(s)
Parent-Child Relations , Parents , Play and Playthings , Humans , Child, Preschool , Male , Female , Child , Adult , Parents/psychology , Reproducibility of Results , Focus Groups , Attitude , Psychometrics
13.
Small Methods ; : e2400420, 2024 May 30.
Article in English | MEDLINE | ID: mdl-38813751

ABSTRACT

Proteomic investigations yield high-dimensional datasets, yet their application to large-scale toxicological assessments is hindered by reproducibility challenges due to fluctuating measurement conditions. To address these limitations, this study introduces an advanced tandem mass tag (TMT) labeling protocol. Although labeling approaches shorten data acquisition time by multiplexing samples compared to traditional label-free quantification (LFQ) methods in general, the associated costs may surge significantly with large sample sets, for example, in toxicological screenings. However, the introduced advanced protocol offers an efficient, cost-effective alternative, reducing TMT reagent usage (by a factor of ten) and requiring minimal biological material (1 µg), while demonstrating increased reproducibility compared to LFQ. To demonstrate its effectiveness, the advanced protocol is employed to assess the toxicity of nine benchmark nanomaterials (NMs) on A549 lung epithelial cells. While LFQ measurements identify 3300 proteins, they proved inadequate to reveal NM toxicity. Conversely, despite detecting 2600 proteins, the TMT protocol demonstrates superior sensitivity by uncovering alterations induced by NM treatment. In contrast to previous studies, the introduced advanced protocol allows simultaneous and straightforward assessment of multiple test substances, enabling prioritization, ranking, and grouping for hazard evaluation. Additionally, it fosters the development of New Approach Methodologies (NAMs), contributing to innovative methodologies in toxicological research.

14.
J Vet Diagn Invest ; 36(4): 573-578, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38708704

ABSTRACT

Astylus atromaculatus Blanchard is a native beetle of South America that feeds on pollen. During the summer of 2022-2023 in Argentina and Uruguay, an explosive infestation of these insects occurred in pastures in which ruminants were grazing. This was believed to be associated with a severe drought, which had significantly reduced the flowering of crops. Three farms in Uruguay and one in Argentina were visited to examine the flocks and perform autopsies. Affected sheep had watery diarrhea, anorexia, depression, and ruminal atony. The average morbidity, mortality, and case fatality rates were 7.5%, 4.3%, and 68%, respectively. The main gross findings in all animals were in the jejunum; the serosa had multifocal hemorrhages, and the mucosa was necrotic and covered by a pseudomembrane. Microscopically, the mucosa had partial-to-complete necrosis of the lamina propria, as well as loss of villus and crypt epithelium with neutrophilic infiltration. Overlying the necrotic mucosa was a pseudomembrane of fibrin, cell debris, desquamated epithelial cells, degenerate neutrophils, and bacteria. Many specimens of A. atromaculatus were in all paddocks in which sheep grazed, as well as in the ruminal content of the autopsied animals.


Subject(s)
Coleoptera , Disease Outbreaks , Sheep Diseases , Argentina/epidemiology , Coleoptera/chemistry , Disease Outbreaks/veterinary , Sheep , Sheep Diseases/epidemiology , Sheep Diseases/mortality , Sheep Diseases/pathology , Uruguay/epidemiology , Animals
15.
Sensors (Basel) ; 24(9)2024 Apr 25.
Article in English | MEDLINE | ID: mdl-38732833

ABSTRACT

In developing nations, outdated technologies and sulfur-rich heavy fossil fuel usage are major contributors to air pollution, affecting urban air quality and public health. In addition, the limited resources hinder the adoption of advanced monitoring systems crucial for informed public health policies. This study addresses this challenge by introducing an affordable internet of things (IoT) monitoring system capable of tracking atmospheric pollutants and meteorological parameters. The IoT platform combines a Bresser 5-in-1 weather station with a previously developed air quality monitoring device equipped with Alphasense gas sensors. Utilizing MQTT, Node-RED, InfluxDB, and Grafana, a Raspberry Pi collects, processes, and visualizes the data it receives from the measuring device by LoRa. To validate system performance, a 15-day field campaign was conducted in Santa Clara, Cuba, using a Libelium Smart Environment Pro as a reference. The system, with a development cost several times lower than Libelium and measuring a greater number of variables, provided reliable data to address air quality issues and support health-related decision making, overcoming resource and budget constraints. The results showed that the IoT architecture has the capacity to process measurements in tropical conditions. The meteorological data provide deeper insights into events of poorer air quality.

16.
Biochem Biophys Rep ; 38: 101716, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38737726

ABSTRACT

The cytosolic enzymes N-Acetyl Transferases 1 and 2 (NATs) transfer an acetyl group from acetyl-CoA to a xenobiotic substrate. NATs are regulated at the genetic and epigenetic levels by deacetylase enzymes such as sirtuins. The enzymatic expression of NAT1, NAT2, and SIRT1 was evaluated by flow cytometry, as well as the enzymatic activity of NATs by cell culture and HPLC analysis. Six SNPs were determined through genotyping. T2D patients (n = 29) and healthy subjects (n = 25) with a median age of 57 and 50, respectively, were recruited. An increased enzyme expression and a diminished NAT2 enzymatic activity were found in cells of T2D patients compared to the control group, while NAT1 was negatively correlated with body fat percentage and BMI. In contrast, Sirtuin inhibition increased NAT2 activity, while Sirtuin agonism decreased its activity in both groups. The analysis of NAT2 SNPs showed a higher frequency of rapid acetylation haplotypes in T2D patients compared to the control group, possibly associated as a risk factor for diabetes. The enzymatic expression of CD3+NAT2+ cells was higher in the rapid acetylators group compared to the slow acetylators group. The levels and activity of NAT1 were associated with total cholesterol and triglycerides. Meanwhile, CD3+NAT2+ cells and NAT2 activity levels were associated with HbA1c and glucose levels. The results indicate that NAT2 could be involved in metabolic processes related to the development of T2D, due to its association with glucose levels, HbA1c, and the altered SIRT-NAT axis. NAT1 may be involved with dyslipidaemias in people who are overweight or obese.

18.
Materials (Basel) ; 17(7)2024 Apr 04.
Article in English | MEDLINE | ID: mdl-38612178

ABSTRACT

Advances in high-pressure grinding roll (HGPR) technology since its first commercial application in the cement industry include new roll wear protection techniques and new confinement systems. The latter contribute to reductions in the edge effects in an attempt to reach a more homogenous product size along the rolls. Additional advances in this technology have been made in recent years, while modeling and simulation tools are also reaching maturity and can now be used to subject such novel developments to detailed scrutiny. This work applies a hybrid approach combining advanced simulations using the discrete element method, the particle replacement model and multibody dynamics to a phenomenological population balance model to critically assess two recent advances in HPGR technology: spring-loaded cheek plates and the offset roller press. Force and torque controllers, included in the EDEM 2022.1 software, were used to describe the responses of the geometries in contact with the granular material processed. Simulations showed that while the former successfully reduced the lateral bypass of the material by as much as 65% when cheek plates became severely worn, the latter demonstrated lower throughput and higher potential wear but an ability to generate a finer product than the traditional design.

19.
J Ophthalmol ; 2024: 4003914, 2024.
Article in English | MEDLINE | ID: mdl-38468717

ABSTRACT

Purpose: The aim of the study is to describe the genotype and phenotype of a Mexican cohort with PCARE-related retinal disease. Methods: The study included 14 patients from 11 unrelated pedigrees with retinal dystrophies who were demonstrated to carry biallelic pathogenic variants in PCARE. Visual assessment methods included best corrected visual acuity, color fundus photography, Goldmann visual field test, kinetic perimetry, dark/light adapted chromatic perimetry, full-field electroretinography, autofluorescence imaging, and spectral domain-optical coherence tomography imaging. Genetic screening was performed either by gene panel sequencing or by exome sequencing. Results: According to the results of multimodal imaging and functional tests, all 14 patients were diagnosed with cone-rod dystrophy. Six different PCARE pathogenic alleles were identified in our cohort, including three novel mutations: c.3048_3049del (p.Tyr1016∗), c.3314_3315del (p.Ser1105∗), and c.551A > G (p.His184Arg). Notably, alleles p.His184Arg, p.Arg613∗, and p.Arg984∗ were present in 18 of the 22 (82%) PCARE alleles from probands in our cohort. Conclusion: Our work expands the PCARE mutational profile by identifying three novel pathogenic variants causing retinal dystrophy. While phenotypic variations occurred among patients, a cone-rod dystrophy pattern was observed in all affected individuals.

20.
Cureus ; 16(2): e54623, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38524006

ABSTRACT

Pilomatrixoma or pilomatricoma is a benign adnexal neoplasm originating from the hair matrix, the inner sheath of the hair follicle, and the hair cortex. Although it is considered rare in adults, numerous cases have been documented in the literature. We present a case of an elderly male who sought consultation due to a newly appearing nodular lesion on his left forearm. Several benign and malignant entities were included in the original differential diagnosis. High-frequency ultrasonographic features suggested a cystic neoplasm with calcification and mild intralesional vascularity. Ultimately, histopathological examination confirmed the diagnosis of pilomatricoma. In this study, our aim is to review the importance of the available diagnostic tools, such as dermoscopy, and the emerging utility of cutaneous high-frequency ultrasonography. Some rarer pathological variants are also discussed, including perforating, anetodermic, bullous and pigmented pilomatricoma. We hope that exposure to these clinical, dermoscopic, ultrasonographic, and histopathological images will encourage clinicians to consider pilomatricoma in their differential diagnosis when approaching nodular lesions, regardless of location and patient's age.

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