Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 110
Filtrar
1.
Aging Cell ; : e14197, 2024 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-38825882

RESUMO

Aortic stiffening is an inevitable manifestation of chronological aging, yet the mechano-molecular programs that orchestrate region- and layer-specific adaptations along the length and through the wall of the aorta are incompletely defined. Here, we show that the decline in passive cyclic distensibility is more pronounced in the ascending thoracic aorta (ATA) compared to distal segments of the aorta and that collagen content increases in both the medial and adventitial compartments of the ATA during aging. The single-cell RNA sequencing of aged ATA tissues reveals altered cellular senescence, remodeling, and inflammatory responses accompanied by enrichment of T-lymphocytes and rarefaction of vascular smooth muscle cells, compared to young samples. T lymphocyte clusters accumulate in the adventitia, while the activation of mechanosensitive Piezo-1 enhances vasoconstriction and contributes to the overall functional decline of ATA tissues. These results portray the immuno-mechanical aging of the ATA as a process that culminates in a stiffer conduit permissive to the accrual of multi-gerogenic signals priming to disease development.

2.
Can Commun Dis Rep ; 50(3-4): 114-118, 2024 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-38742162

RESUMO

Background: Bloodstream infections (BSI) caused by a wide range of bacterial and fungal pathogens are associated with high rates of morbidity and mortality. Based on an estimate in 2017, the number of BSI incidences in Ontario is 150 per 100,000 population. The epidemiology of BSIs may be affected by many factors, including the social and travel restrictions and increased rates of hospitalizations in Ontario during the coronavirus disease 2019 (COVID-19) pandemic. Objectives: This study aimed to assess the changes in the microbiology of BSIs in Ontario during the COVID-19 pandemic compared to the pre-pandemic period. Methods: Retrospective blood culture data (n=189,106) from LifeLabs Ontario (July 2018 to December 2021) were analyzed. Blood culture positivity rates for common bacterial pathogens were compared between pre-COVID-19 (July 2018 to March 2020) and COVID-19 (April 2020 to December 2021) periods in community and hospital settings, using the chi-square test for significance. Results: During the COVID-19 period, blood culture positivity rates in the community remained the same, while hospital rates increased by approximately threefold (p=0.00E-00). In the community, the isolation rates of most bacterial species remained unchanged, except for an increase in Enterococcus spp. and a decrease in Salmonella spp. The rates of antibiotic-resistant organisms (AROs) also significantly decreased in the community. In hospitals, all bacterial species, including AROs, showed significant increases in isolation rates during the COVID-19 period. Conclusion: The study revealed shifts in the microbiology of BSIs and suggests changes in the epidemiology of BSIs during the COVID-19 pandemic in Ontario, both in hospitals and in the community.

3.
Pediatr Blood Cancer ; : e31067, 2024 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-38750615

RESUMO

BACKGROUND: Growth failure is commonly encountered in sickle cell disease (SCD). Tissue compartment growth and development are subsequently likely to be altered in such patients. OBJECTIVE: We aimed to analyze body composition in an Egyptian pediatric SCD cohort using dual-energy x-ray absorptiometry (DEXA), one of the most comprehensive and noninvasive assessment methods available. METHODS: Forty children with SCD ≤18 years and 40 healthy youngsters age- and gender-matched were enrolled. Patients' demographic, clinical, and laboratory parameters were obtained from their archived files. All patients and controls were subjected to body composition assessment using a MedixDR-Whole Body DEXA System. RESULTS: In SCD patients; weight and height relative to age Z scores were significantly lower (p < .001), total body lean was significantly higher (p = .006), and total body fat percentage was lower, yet the difference was not statistically significant (p = .09). There were no statistically significant variations in bone mineral density or content, basal metabolic rate, subcutaneous adipose tissue, android/gynoid fat ratio, and visceral adipose tissue. There were no significant gender disparities between SCD patients and controls. CONCLUSION: Faltering growth in children with SCD should be addressed with a multidisciplinary approach including nutritional support, correction of anemia, and proper medical care. Body composition parameters assessed using DEXA were comparable between cases and controls apart from total body lean. Further clinical studies are needed with multicenter cooperation and a larger sample size to assess the usefulness of DEXA as an assessment tool for body composition in children with SCD.

4.
Reg Anesth Pain Med ; 2024 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-38719225

RESUMO

INTRODUCTION: Transition-related surgery is an effective treatment for gender dysphoria, but the perioperative analgesic management of transgender patients is nuanced and potentially complicated by higher rates of mood and substance use disorders. Regional anesthetic techniques are known to reduce pain severity and opioid requirements; however, little is known regarding the relative analgesic effectiveness of regional anesthesia for transgender patients undergoing transition-related surgery. METHODS: We performed a systematic review of the literature to evaluate original reports characterizing the analgesic effectiveness of regional anesthetic techniques for patients undergoing chest and/or genital transition-related surgery. Our primary outcomes were pain severity and opioid requirements on the first postoperative day. RESULTS: Of the 1863 records identified, 10 met criteria for inclusion and narrative synthesis. These included two randomized controlled trials, three cohort studies, and five case reports/series, comprising 293 patients. Four reports described 243 patients undergoing chest surgery, of whom 86% were transgender men undergoing mastectomy with pectoralis nerve blocks or local anesthetic instillation devices. The remaining six reports comprised 50 patients undergoing genital surgery, of whom 56% were transgender women undergoing vaginoplasty with erector spinae plane blocks or epidural anesthesia. Three studies directly compared regional techniques to parenteral analgesia alone. Two of these studies reported lower pain scores and opioid requirements on the first postoperative day with nerve blocks compared with none while the third study reported no difference between groups. Complications related to regional anesthetic techniques were rare among patients undergoing transition-related surgery. DISCUSSION: Despite the ever-growing demand for transition-related surgery, the relative analgesic effectiveness of regional anesthesia for transgender patients undergoing transition-related surgery is very understudied and insufficient to guide clinical practice. Our systematic review of the literature serves to underscore regional anesthesia for transition-related surgery as a priority area for future research.

5.
Molecules ; 29(7)2024 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-38611814

RESUMO

Green bananas contain a substantial amount of resistant starch (RS), dietary fiber (DF), and phytochemicals, which exhibit potent antioxidant capabilities, primarily attributable to the abundance of polyphenols. The objective of this study was to assess the variations in the contents and bioaccessibility of RS, DF, and phenolic compounds in three types of Australian green bananas (Cavendish "Musa acuminata", Ladyfinger "Musa paradisiaca L.", and Ducasse "Musa balbisiana"), along with their antioxidant capacities, and the production of short-chain fatty acids (SCFAs) following in vitro simulated gastrointestinal digestion and colonic fermentation. The studied cultivars exhibited significant levels of RS, with Ladyfinger showing the greatest (49%). However, Ducasse bananas had the greatest DF concentration (38.73%). Greater TPC levels for Ladyfinger (2.32 mg GAE/g), as well as TFC and TTC (0.06 mg QE/g and 3.2 mg CE/g, respectively) in Cavendish, together with strong antioxidant capacities (DPPH, 0.89 mg TE/g in Cavendish), have been detected after both intestinal phase and colonic fermentation at 12 and 24 h. The bioaccessibility of most phenolic compounds from bananas was high after gastric and small intestinal digestion. Nevertheless, a significant proportion of kaempferol (31% in Cavendish) remained detectable in the residue after colonic fermentation. The greatest production of SCFAs in all banana cultivars was observed after 24 h of fermentation, except valeric acid, which exhibited the greatest output after 12 h of fermentation. In conclusion, the consumption of whole green bananas may have an advantageous effect on bowel health and offer antioxidant characteristics.


Assuntos
Musa , Amido Resistente , Fibras na Dieta , Antioxidantes , Fermentação , Austrália , Fenóis , Digestão
6.
J Physiol ; 2024 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-38456626

RESUMO

Many organs are designed to move: the heart pumps each second, the gastrointestinal tract squeezes and churns to digest food, and we contract and relax skeletal muscles to move our bodies. Sensory neurons of the peripheral nervous system detect signals from bodily tissues, including the forces generated by these movements, to control physiology. The processing of these internal signals is called interoception, but this is a broad term that includes a wide variety of both chemical and mechanical sensory processes. Mechanical senses are understudied, but rapid progress has been made in the last decade, thanks in part to the discovery of the mechanosensory PIEZO ion channels (Coste et al., 2010). The role of these mechanosensors within the interoceptive nervous system is the focus of this review. In defining the transduction molecules that govern mechanical interoception, we will have a better grasp of how these signals drive physiology.

7.
Pediatr Blood Cancer ; 71(6): e30959, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38520679

RESUMO

BACKGROUND: Thrombin is a critical protease modulating thrombosis as well as inflammation, which are one of the main pathophysiological mechanisms in sickle vasculopathy, and its levels were reported to be high in sickle cell disease (SCD). The thrombin-thrombomodulin complex activates the TAFI inhibitor of fibrinolysis, which acts by reducing plasmin affinity for its substrate thus hindering fibrinolysis. OBJECTIVE: We aimed to determine the influence of the Thr325Ile single nucleotide polymorphism (SNP) on TAFI antigen levels and potential effects on the severity of SCD in a cohort of Egyptian patients. METHODS: Genotyping of Thr325lle polymorphism using Taq-Man SNP genotyping assay and TAFI level measurement using an enzyme-linked immunosorbent assay were performed for 80 SCD patients (45 homozygous HbSS, 16 S/ß0 and 19 Sß+) as well as 80 age- and gender-matched healthy control subjects. RESULTS: Plasma TAFI levels were higher in SCD patients with Thr325Ile polymorphism, yet the difference was not statistically significant (p = .204). SCD patients with polymorphic genotypes had a greater number of hospital admissions (p = .03). Ten patients with acute chest syndrome had the homozygous polymorphic genotype (GG), and all patients with pulmonary hypertension had the polymorphic genotype (six were homozygous [GG] and five were heterozygous [GA]). Patients with SCD complicated with pulmonary hypertension showed significantly higher plasma TAFI levels (p = .044). CONCLUSION: The analysis of Thr325Ile polymorphisms combined with plasma TAFI levels suggests that the analyzed SNP could influence plasma TAFL levels and SCD disease severity and hospitalization rates, which could be predictors for complex disease.


Assuntos
Anemia Falciforme , Carboxipeptidase B2 , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Adulto Jovem , Anemia Falciforme/genética , Anemia Falciforme/sangue , Carboxipeptidase B2/genética , Carboxipeptidase B2/sangue , Estudos de Casos e Controles , Estudos de Coortes , Egito , Genótipo , Prognóstico , Índice de Gravidade de Doença
8.
Arch Pathol Lab Med ; 148(4): 419-429, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-37594899

RESUMO

CONTEXT.­: The pathologic diagnosis of pulmonary extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT) is challenging. OBJECTIVE.­: To evaluate the diagnostic usefulness and limitations of current diagnostic strategies for pulmonary MALT lymphoma. DESIGN.­: A retrospective review of 120 cases of pulmonary MALT lymphoma from 2014 through 2021 was performed. RESULTS.­: Clinicoradiologic presentations overlapped with previous observations in patients with MALT lymphoma, such as a wide age range, female predominance, frequent association with autoimmune disease or immunodeficiency, and broad imaging findings. The histopathologic diagnosis was based on a combination of morphology, immunohistochemistry, and demonstration of B-cell lineage clonality. Two-thirds (76 of 113) of MALT lymphomas had lymphoplasmacytoid cytomorphology. Occasionally, MALT lymphomas were associated with granulomas/giant cells (29%, 35 of 120) or immunoglobulin deposition disease (21%, 25 of 120), including light chain/heavy chain deposition disease, amyloidosis, and/or crystal storing histiocytosis. While CD5, CD10, Bcl-2, and Bcl-6 rarely revealed aberrancies, aberrant CD43 expression either on B-cells or on plasma cells was detected in 42% (27 of 64) of cases, including cases for which proof of clonality could not be obtained. κ/λ in situ hybridization was particularly useful for tumors with lymphoplasmacytoid morphology but performed poorly in lymphomas having no plasmacytic differentiation. κ/λ immunohistochemistry showed no additional usefulness when applied together with κ/λ in situ hybridization. Immunoglobulin gene rearrangement studies by polymerase chain reaction achieved high detection rates of clonality in all cytomorphologic subgroups. CONCLUSIONS.­: Our study offers a practical evaluation of common diagnostic tests in pulmonary MALT lymphoma. We offer recommendations for a diagnostic workup that takes into consideration the usefulness and the specific limitations of the various diagnostic strategies.


Assuntos
Linfoma de Zona Marginal Tipo Células B , Humanos , Feminino , Masculino , Linfoma de Zona Marginal Tipo Células B/diagnóstico , Linfoma de Zona Marginal Tipo Células B/genética , Linfócitos B/patologia , Plasmócitos/patologia , Rearranjo Gênico , Imuno-Histoquímica
9.
J Biomech ; 162: 111879, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38043496

RESUMO

Numerous studies have shown the detrimental health effects of tobacco smoking on bone volume and strength in human and animal models. Little is known regarding the impacts of e-cigarettes, a form of smoke-less nicotine intake, despite their growing population of users. This study uses murine models to evaluate the effects of exposure to e-cigarette aerosols (JUUL) on bone structure and strength through micro-CT imaging and mechanical testing. JUUL mice had more trabecular bone in thickness and volume, yet lower ultimate stress and modulus values in the cortical bone than the control mice. These outcomes suggest that, although vaping can result in a higher bone volume, this bone is weaker than average. E-cigarettes should be examined more closely regarding adolescence and long-term consequences on skeletal health.


Assuntos
Sistemas Eletrônicos de Liberação de Nicotina , Vaping , Humanos , Adolescente , Camundongos , Animais , Modelos Animais de Doenças , Nicotina , Aerossóis , Vaping/epidemiologia , Vaping/psicologia
10.
Biochem Biophys Res Commun ; 688: 149122, 2023 12 25.
Artigo em Inglês | MEDLINE | ID: mdl-37951152

RESUMO

Damage-associated molecular patterns released upon hepatocyte injury ensuing non-alcoholic steatohepatitis (NASH) can stimulate innate immunity by activating NOD-like receptor family pyrin domain-containing protein 3 (NLRP3) inflammasome, thereby triggering pro-inflammatory cascades in the liver. Aberrant NLRP3 activation allied to compromised autophagic clearance of its components contributes to the progression of multiple inflammatory diseases. Such intricate interplay, however, was not fully deciphered in NASH. Prior studies have illuminated the ability of vitamin D3 to temper inflammasome activation in several contexts, prompting us to probe the impact of vitamin D3, particularly its active form, calcitriol (CAL), on NLRP3 overactivation in a high-fat diet (HFD)-based NASH model and its potential dependence on autophagy. Hydroxychloroquine (HCQ), an autophagy inhibitor, was co-administered with CAL to examine the likely modulation of the NLRP3/autophagy crosstalk. Our results showed that treatment with CAL countervailed the histopathological derangement reported in the livers of HFD-fed mice that paralleled a restoration of vitamin D receptor gene expression and reduction in sterol regulatory element binding protein 1c levels. Moreover, p62 was curtailed with CAL treatment indicating autophagy induction. CAL also prompted a reduction in NLRP3, caspase-1, gasdermin D, and IL-18 protein levels along with the apoptosis-associated speck-like protein (ASC) gene expression. Treatment with CAL also reduced IL-1ß and caspase-3 immunoreactivities compared to control. Intriguingly, CAL modulatory effects on inflammasome activation were curbed in the group that received HCQ, suggesting a potential autophagy dependency. Accordingly, the current study suggests that CAL was capable of ameliorating NASH via inhibiting NLRP3 inflammasome activation in an autophagy-dependent manner.


Assuntos
Inflamassomos , Hepatopatia Gordurosa não Alcoólica , Camundongos , Animais , Inflamassomos/metabolismo , Hepatopatia Gordurosa não Alcoólica/tratamento farmacológico , Hepatopatia Gordurosa não Alcoólica/metabolismo , Proteína 3 que Contém Domínio de Pirina da Família NLR/metabolismo , Colecalciferol/farmacologia , Autofagia , Calcitriol/farmacologia
11.
Life Sci ; 332: 122124, 2023 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-37742738

RESUMO

Vitamin D (VD) is a secosteroid hormone that is renowned for its crucial role in phospho-calcium homeostasis upon binding to the nuclear vitamin D receptor (VDR). Over and above, the pleiotropic immunomodulatory, anti-inflammatory, and metabolic roles VD plays in different disease settings started to surface in the past few decades. On the other hand, a growing body of evidence suggests a correlation between non-alcoholic fatty liver disease (NAFLD) and its progressive inflammatory form non-alcoholic steatohepatitis (NASH) with vitamin D deficiency (VDD) owing to the former's ingrained link with obesity and metabolic syndrome. Accordingly, a better understanding of the contribution of disrupted VDR signalling to NAFLD incidence and progression would provide further insights into its diagnosis, treatment modalities, and prognosis. This is especially significant as, hitherto, no drug for NAFLD has been approved. This review, therefore, sought to set forth the likely contribution of VDR signalling in NAFLD and how it might influence its multiple drivers.

14.
Cureus ; 15(6): e40116, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37425521

RESUMO

Background Tinea pedis or foot ringworm is an infection of the feet affecting the soles, interdigital clefts of toes, and nails, with a dermatophyte fungus. It is also called athlete's foot. Onychomycosis of the nail is caused by dermatophytes called Tinea unguium. An abnormal nail not caused by a fungal infection is a type of dystrophic nail. Onychomycosis can infect both fingernails and toenails, but onychomycosis of the toenail is much more prevalent. Aim The study aimed to assess the knowledge, perception, and awareness among a sample from Ha'il City, Saudi Arabia, of the definitions, risk factors, symptoms, diagnosis, complications, and treatment of both Tinea pedis and Tinea unguium, along withtheir correlation with diabetic patients. Material A cross-sectional survey was distributed throughout Ha'il City. An online questionnaire was designed and distributed via various social media apps, which included questions concerning participants' sociodemographic information, alongside questions regarding the risk factors, signs, symptoms, complications, and management of both Tinea pedis and Tinea unguium. Methods SPSS for Windows v22.0 (IBM Corp. Released 2013. IBM SPSS Statistics for Windows, Version 22.0. Armonk, NY: IBM Corp.) was used for statistical analysis. Results The overall awareness of the study's participants about Tinea Pedis and Tinea unguium infection was low (34.82%).

15.
RSC Adv ; 13(31): 21769-21780, 2023 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-37521157

RESUMO

Fe-gallic acid MOF embedded in an epoxy methyl cellulose polymer (CMC) thin film was synthesized and characterized by different micro-analytical tools such as: FE-SEM/EDX, XPS analysis, XRD analysis, FT-IR, and fluorescence spectroscopy. Fe-gallic acid MOF doped in a stable CMC polymer thin film is used as a novel sensor to identify CA 15-3 in the sera of patients suffering breast malignancy. The presence of appropriate functional groups in aqueous CA 15-3 solutions enables it to interact with the Fe-gallic acid MOF embedded in the thin film. The Fe-gallic acid MOF was found to absorb energy at 350 nm (λex) and emits radiation at 439 nm which was specifically quenched in the presence of CA 15-3 over a working concentration range of 0.05-570 U mL-1. In contrast to other CA 15-3 detection methods which suffered from electronic noise, interference and slowness, the Fe-gallic acid MOF proved its sensitivity as an economic, stable and reliable probe for the detection and determination of CA 15-3 in patients' serum samples with a detection limit of 0.01 U mL-1 at pH 7.2.

16.
RSC Adv ; 13(31): 21318-21326, 2023 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-37465571

RESUMO

A low-cost, accurate, and highly selective method was used for the assessment of the human chorionic gonadotropin ß-hCG in the serum of breast and prostate cancer patients. This method is based on enhancing the intensity of luminescence displayed by the optical sensor N/S-doped carbon dots (CQDs) upon adding different concentrations of ß-hCG. The luminescent optical sensor was synthesized and characterized through absorption and emission and is tailored to present blue luminescence at λem = 345 nm and λex = 288 nm at pH 7.8 in DMSO. The enhancement of the luminescence intensity of the N/S-doped CQDs, especially, the characteristic band at λem = 345 nm, is typically used for determining ß-hCG in different serum samples. The dynamic range is 1.35-22.95 mU mL-1, and the limit of detection (LOD) and quantitation limit of detection (LOQ) are 0.235 and 0.670 mU mL-1, respectively. This method was practical, simple, and relatively free from interference effect. It was successfully applied to measure PCT in the samples of human serum, and from this method, we can assess some biomarkers of cancer-related diseases in human body.

17.
Adv Nutr ; 14(5): 948-958, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37270030

RESUMO

Achieving optimal health is an aspirational goal for the population, yet the definition of health remains unclear. The role of nutrition in health has evolved beyond correcting malnutrition and specific deficiencies and has begun to focus more on achieving and maintaining 'optimal' health through nutrition. As such, the Council for Responsible Nutrition held its October 2022 Science in Session conference to advance this concept. Here, we summarize and discuss the findings of their Optimizing Health through Nutrition - Opportunities and Challenges workshop, including several gaps that need to be addressed to advance progress in the field. Defining and evaluating various indices of optimal health will require overcoming these key gaps. For example, there is a strong need to develop better biomarkers of nutrient status, including more accurate markers of food intake, as well as biomarkers of optimal health that account for maintaining resilience-the ability to recover from or respond to stressors without loss to physical and cognitive performance. In addition, there is a need to identify factors that drive individualized responses to nutrition, including genotype, metabotypes, and the gut microbiome, and to realize the opportunity of precision nutrition for optimal health. This review outlines hallmarks of resilience, provides current examples of nutritional factors to optimize cognitive and performance resilience, and gives an overview of various genetic, metabolic, and microbiome determinants of individualized responses.


Assuntos
Microbioma Gastrointestinal , Ciências da Nutrição , Humanos , Estado Nutricional , Biomarcadores
18.
Neuron ; 111(16): 2488-2501.e8, 2023 08 16.
Artigo em Inglês | MEDLINE | ID: mdl-37321223

RESUMO

Sensory neurons detect mechanical forces from both the environment and internal organs to regulate physiology. PIEZO2 is a mechanosensory ion channel critical for touch, proprioception, and bladder stretch sensation, yet its broad expression in sensory neurons suggests it has undiscovered physiological roles. To fully understand mechanosensory physiology, we must know where and when PIEZO2-expressing neurons detect force. The fluorescent styryl dye FM 1-43 was previously shown to label sensory neurons. Surprisingly, we find that the vast majority of FM 1-43 somatosensory neuron labeling in mice in vivo is dependent on PIEZO2 activity within the peripheral nerve endings. We illustrate the potential of FM 1-43 by using it to identify novel PIEZO2-expressing urethral neurons that are engaged by urination. These data reveal that FM 1-43 is a functional probe for mechanosensitivity via PIEZO2 activation in vivo and will facilitate the characterization of known and novel mechanosensory processes in multiple organ systems.


Assuntos
Canais Iônicos , Mecanotransdução Celular , Camundongos , Animais , Mecanotransdução Celular/fisiologia , Canais Iônicos/metabolismo , Células Receptoras Sensoriais/fisiologia , Compostos de Piridínio/metabolismo
19.
Ann Plast Surg ; 90(6S Suppl 5): S612-S616, 2023 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-36975132

RESUMO

BACKGROUND: Oral clefts require longitudinal multidisciplinary care with follow-up visits at regular intervals throughout a patient's childhood, and delayed care can be detrimental. Although loss to follow-up is commonly studied, this metric does not account for patients that do return to care, but months or years later than recommended. The aim of this study was to explore and determine risk factors for delay to follow-up (DTFU) in a cleft clinic at a rural academic center. METHODS: Medical records from the multidisciplinary cleft clinic at a single rural tertiary care institution between January 1, 2010, and December 31, 2019, were reviewed. The primary outcome was DTFU, measured as the difference in days between recommended and actual follow-up dates for a given visit. RESULTS: A cohort of 282 patients was analyzed, with a total of 953 visits. A total of 71% of patients experienced at least 1 delay in follow-up of 30 days or longer, and 50% had at least 1 delay of 90 days or longer. Out of all visits, the mean DTFU was 73 days (around 2.5 months). For 23% of patients, at least half their visits were delayed by more than 90 days, whereas 11% experienced a delay of more than 90 days with every visit. Patients who failed to show up to at least 1 appointment had significantly higher risk of DTFU ( P < 0.0001). Driving distance, driving time, SES, stage of cleft care, and cleft phenotype were not correlated with DTFU. For canceled appointments, 50.5% of recorded cancellation reasons were patient driven. CONCLUSIONS: Delay to follow-up in a multidisciplinary cleft clinic was prevalent in this rural cohort, with half of patients experiencing delays of 3 months or longer, and about 1 in 9 experiencing this delay with every visit. Delay to follow-up identifies patients with consistently high rates of delay in care, which could eventually lead to targeted interventions to increase compliance. Delay to follow-up may be a new and valuable measure of cleft care compliance that can be easily implemented by other institutions. Further investigation is needed to determine the relationship between delay and clinical outcomes in cleft patients.


Assuntos
Seguimentos , Estudos Retrospectivos , Fatores de Risco
20.
Ann Hum Genet ; 87(4): 166-173, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-36916508

RESUMO

INTRODUCTION: Congenital sideroblastic anemias (CSAs) are a group of inherited bone-marrow disorders manifesting with erythroid hyperplasia and ineffective erythropoiesis. METHODS: We describe a detailed clinical and genetic characterization of three siblings with CSA. RESULTS: Two of them had limb-girdle myopathy and global developmental delay. The two elder siblings performed allogenic hematopoietic stem-cell transplantation 5 and 3 years prior with stabilization of the hematological features. Exome sequencing in the non-transplanted sibling revealed a novel homozygous nonsense variant in SLC25A38 gene NM_017875.2:c.559C > T; p.(Arg187*) causing autosomal-recessive sideroblastic anemia type-2, and a second homozygous pathogenic previously reported variant in GMPPB gene NM_013334.3:c.458C > T; p.(Thr153Ile) causing autosomal-recessive muscular dystrophy-dystroglycanopathy type B14. With the established diagnosis, hematopoietic stem cell transplantation is now being scheduled for the youngest sibling, and a trial therapy with acetylcholine esterase inhibitors was started for the two neurologically affected patients with partial clinical improvement. CONCLUSION: This family emphasizes the importance of whole-exome sequencing for familial cases with complex phenotypes and vague neurological manifestations.


Assuntos
Anemia Sideroblástica , Humanos , Anemia Sideroblástica/genética , Anemia Sideroblástica/diagnóstico , Anemia Sideroblástica/patologia , Irmãos , Genótipo , Fenótipo , Mutação
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA