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1.
Artigo em Inglês | MEDLINE | ID: mdl-38837187

RESUMO

BACKGROUND: The mean wait time for new patient appointments has been growing across specialties, including obstetrics and gynecology, in recent years. This study aimed to assess the impact of insurance type (Medicaid versus commercial insurance) on new patient appointment wait times in general obstetrics and gynecology practices. METHODS: A cross-sectional study used covert mystery calls to general obstetrician gynecologists. Physicians were selected from the American College of Obstetricians and Gynecologists directory and stratified by districts to ensure nationwide representation. Wait times for new patient appointments were collected and analyzed. RESULTS: Regardless of insurance type, the mean wait time for all obstetrician gynecologists was 29.9 business days. Medicaid patients experienced a marginally longer wait time of 4.8% (Ratio: 1.048). While no statistically significant difference in wait times based on insurance type was observed (P=0.39), the data revealed other impactful factors. Younger physicians and those in university-based practices had longer wait times. The gender of the physician also influenced wait times, with female physicians having a mean wait time of 34.7 days compared to 22.7 days for male physicians (P=0.03). Additionally, geographical variations were noted, with physicians in American College of Obstetricians and Gynecologists District I (Atlantic Provinces, CT, ME, MA, NH, RI, VT) having the longest mean wait times and those in District III (DE, NJ, PA) the shortest. CONCLUSIONS: While the type of insurance did not significantly influence the wait times for general obstetrics and gynecology appointments, physician demographic and geographic factors did.

2.
Pediatrics ; 153(6)2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38784990

RESUMO

BACKGROUND AND OBJECTIVES: Despite advances in the prevention of rhesus (Rh)(D) alloimmunization, alloantibodies to Rh(D) and non-Rh(D) red blood cell antigens continue to be detected in ∼4% of US pregnancies and can result in hemolytic disease of the fetus and newborn (HDFN). Recent reports on HDFN lack granularity and are unable to provide antibody-specific outcomes. The objective of this study was to calculate the frequency of alloimmunization in our large hospital system and summarize the outcomes based on antibody specificity, titer, and other clinical factors. METHODS: We identified all births in a 6-year period after a positive red blood cell antibody screen result during pregnancy and summarized their characteristics and outcomes. RESULTS: A total of 707 neonates were born after a positive maternal antibody screen result (3.0/1000 live births). In 31 (4%), the positive screen result was due to rhesus immune globulin alone. Of the 676 neonates exposed to alloantibodies, the direct antibody test (DAT) result was positive, showing antigen-positivity and evidence of HDFN in 37% of those tested. Neonatal disease was most severe with DAT-positive anti-Rh antibodies (c, C, D, e, E). All neonatal red blood cell transfusions (15) and exchange transfusions (6) were due to anti-Rh alloimmunization. No neonates born to mothers with anti-M, anti-S, anti-Duffy, anti-Kidd A, or anti-Lewis required NICU admission for hyperbilirubinemia or transfusion. CONCLUSIONS: Alloimmunization to Rh-group antibodies continues to cause a majority of the severe HDFN cases in our hospital system. In neonates born to alloimmunized mothers, a positive DAT result revealing antigen-positivity is the best predictor of anemia and hyperbilirubinemia.


Assuntos
Eritroblastose Fetal , Isoanticorpos , Isoimunização Rh , Humanos , Feminino , Gravidez , Recém-Nascido , Isoanticorpos/imunologia , Isoanticorpos/sangue , Isoimunização Rh/imunologia , Isoimunização Rh/epidemiologia , Eritroblastose Fetal/imunologia , Eritroblastose Fetal/epidemiologia , Eritroblastose Fetal/diagnóstico , Resultado da Gravidez/epidemiologia , Sistema do Grupo Sanguíneo Rh-Hr/imunologia , Masculino , Imunoglobulina rho(D)/imunologia , Adulto , Estudos Retrospectivos
3.
Artigo em Inglês | MEDLINE | ID: mdl-38748895

RESUMO

INTRODUCTION: Adequate pain control and early mobilization are critical in the postoperative period after periacetabular osteotomy (PAO). Regional anesthesia can reduce postoperative pain, but certain techniques can increase the risk of postoperative motor block and delayed functional recovery. Continuous lumbar epidurals can provide excellent analgesia but also create challenges with early ambulation. Recently, suprainguinal fascia iliaca (SIFI) single-shot blocks have been shown to provide effective analgesia in PAO patients. The goal of this study was to compare opioid use, time to achieve inpatient physical therapy (PT) goals, and length of stay (LOS) between a cohort of patients receiving SIFI blocks and a cohort of patients receiving epidural analgesia (EA). METHODS: This retrospective single-surgeon comparative cohort study included all patients who underwent a PAO between 2012 and 2022. Regional anesthetic technique (SIFI vs EA), length of hospital stay, intraoperative and postoperative opioid use, pain scores, and time to achievement of PT milestones before discharge were recorded. Patients were excluded if they had any preexisting neuromuscular syndrome or neurosensory deficit. All opioid use was converted to morphine-milligram equivalents using standard conversions. RESULTS: Two hundred four surgeries were done over the study period; 164 patients received EA, and 40 received a SIFI block. The average age of our cohort was 19.5 years (±6 yrs). The SIFI cohort had a significantly shorter mean LOS than the EA cohort (2.9 vs 4.1 days, P < 0.001). Patients in the SIFI cohort achieved all PT ambulation goals significantly sooner than the lumbar epidural group (P < 0.001), with lower total opioid use on each postoperative day. No notable differences were observed in sex, race, BMI, or pain scores at inpatient PT visits before discharge. CONCLUSION: After PAO surgery, the SIFI block is associated with shorter hospital LOS, reduced postoperative opioid use, and earlier mobilization when compared with those who were managed with an epidural.

4.
Paediatr Anaesth ; 34(7): 654-661, 2024 07.
Artigo em Inglês | MEDLINE | ID: mdl-38655751

RESUMO

BACKGROUND: Friedreich ataxia is a rare genetic disorder associated with progressive mitochondrial dysfunction leading to widespread sequelae including ataxia, muscle weakness, hypertrophic cardiomyopathy, diabetes mellitus, and neuromuscular scoliosis. Children with Friedreich ataxia are at high risk for periprocedural complications during posterior spinal fusion due to their comorbidities. AIM: To describe our single-center perioperative management of patients with Friedreich ataxia undergoing posterior spinal fusion. METHODS: Adolescent patients with Friedreich ataxia presenting for spinal deformity surgery between 2007 and 2023 were included in this retrospective case series performed at the Children's Hospital of Philadelphia. Perioperative outcomes were reviewed along with preoperative characteristics, intraoperative anesthetic management, and postoperative medical management. RESULTS: Seventeen patients were included in the final analysis. The mean age was 15 ± 2 years old and 47% were female. Preoperatively, 35% were wheelchair dependent, 100% had mild-to-moderate hypertrophic cardiomyopathy with preserved systolic function and no left ventricular outflow tract obstruction, 29% were on cardiac medications, and 29% were on pain medications. Intraoperatively, 53% had transesophageal echocardiography monitoring; 12% had changes in volume status on echo but no changes in function. Numerous combinations of total intravenous anesthetic agents were used, most commonly propofol, remifentanil, and ketamine. Baseline neuromonitoring signals were poor in four patients and one patient lost signals, resulting in 4 (24%) wake-up tests. The majority (75%) were extubated in the operating room. Postoperative complications were high (88%) and ranged from minor complications like nausea/vomiting (18%) to major complications like hypotension/tachycardia (29%) and need for extracorporeal membrane oxygenation support in one patient (6%). CONCLUSIONS: Patients with Friedreich ataxia are at high risk for perioperative complications when undergoing posterior spinal fusion and coordinated multidisciplinary care is required at each stage. Future research should focus on the utility of intraoperative echocardiography, optimal anesthetic agent selection, and targeted fluid management to reduce postoperative cardiac complications.


Assuntos
Ataxia de Friedreich , Assistência Perioperatória , Fusão Vertebral , Humanos , Feminino , Estudos Retrospectivos , Ataxia de Friedreich/complicações , Fusão Vertebral/métodos , Masculino , Adolescente , Assistência Perioperatória/métodos , Complicações Pós-Operatórias/epidemiologia , Resultado do Tratamento , Criança , Escoliose/cirurgia
5.
Paediatr Anaesth ; 34(6): 544-550, 2024 06.
Artigo em Inglês | MEDLINE | ID: mdl-38358309

RESUMO

BACKGROUND: Point-of-care ultrasound is an invaluable bedside tool for anesthesiologists and has been integrated into anesthesiology residency training and board certification in the United States. Little is known about point-of-care ultrasound training practices in pediatric anesthesia fellowship programs. AIMS: To describe the current state of point-of-care ultrasound education in pediatric anesthesia fellowship programs in the United States. METHODS: We conducted a cross-sectional survey study distributed to 60 American Accreditation Council for Graduate Medical Education-accredited pediatric anesthesia fellowship programs. Two programs were in their initial accreditation period and were excluded due to lack of historical data. Program directors or associate program directors were invited to complete this 23-item survey. RESULTS: Thirty-three of fifty-eight programs (57%) completed the survey. Of those, 15 programs (45%) reported having a point-of-care ultrasound curriculum. Programs with ≤3 fellows per year were less likely to have an ultrasound curriculum compared to programs with ≥4 fellows per year (30% programs 0-3 fellows/year vs. 69% programs ≥4 fellows/year, odds ratio 0.19 [95% confidence intervals 0.04-0.87]; p = .03). Program directors and associate program directors rated point-of-care ultrasound training as highly valuable to fellows' education. Barriers to use most commonly included lack of experience (64%), lack of oversight/interpretive guidance (58%), and lack of time (45%). Programs without point-of-care ultrasound training had significantly higher odds of listing lack of ultrasound access as a primary barrier (50% programs without vs. 13% programs with, odds ratio 6.5, [95% confidence intervals 1.3-50]; p = .04). CONCLUSIONS: This observational survey-based study suggests that fewer than half of pediatric anesthesia training programs in the United States offer point-of-care ultrasound education. Additional research is needed to optimize this education and training in pediatric anesthesia fellowship programs.


Assuntos
Anestesiologia , Bolsas de Estudo , Anestesia Pediátrica , Pediatria , Sistemas Automatizados de Assistência Junto ao Leito , Ultrassonografia , Humanos , Acreditação , Anestesiologia/educação , Estudos Transversais , Currículo , Educação de Pós-Graduação em Medicina/métodos , Internato e Residência , Pediatria/educação , Inquéritos e Questionários , Ultrassonografia/estatística & dados numéricos , Estados Unidos
6.
Am J Gastroenterol ; 2024 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-38299616

RESUMO

INTRODUCTION: Absent contractility on high-resolution manometry (HRM) defines severe hypomotility but needs distinction from achalasia. We retrospectively identified achalasia within absent contractility using HRM provocative maneuvers, barium esophagography, and functional lumen imaging probe (FLIP). METHODS: Adult patients with absent contractility on HRM during the 4-year study period were eligible for inclusion. Inadequate studies, achalasia after therapy, or prior foregut surgery were exclusions. Upright integrated relaxation pressure (IRP) >12 mm Hg, panesophageal pressurization, and/or elevated IRP on multiple rapid swallows and rapid drink challenge (RDC) were considered abnormal. Esophageal barium retention and abnormal esophagogastric junction distensibility index (<2.0 mm 2 /mm Hg) on FLIP defined achalasia. Clinical, endoscopic, and motor characteristics of patients with achalasia were compared with absent contractility without obstruction. RESULTS: Of 164 patients, 20 (12.2%) had achalasia (17.9% of 112 patients with adjunctive testing), while 92 did not, and 52 did not undergo adjunctive tests. Achalasia was diagnosed regardless of IRP value, but the median supine IRP was higher (odds ratio 1.196, 95% confidence interval 1.041-1.375, P = 0.012). Patients with achalasia were more likely to present with dysphagia (80.0% vs 35.9%, P < 0.001), with obstructive features on HRM maneuvers (83.3% vs 48.9%, P = 0.039), but lower likelihood of GERD evidence (20.0% vs 47.3%, P = 0.027) or large hiatus hernia (15.0% vs 43.8%, P = 0.002). On multivariable analysis, dysphagia presentation ( P = 0.006) and pressurization on RDC ( P = 0.027) predicted achalasia, while reflux and presurgical evaluations and lack of RDC obstruction predicted absent contractility without obstruction. DISCUSSION: Despite HRM diagnosis of absent contractility, achalasia is identified in more than 1 in 10 patients regardless of IRP value.

7.
Anesth Analg ; 138(2): 438-446, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-37010953

RESUMO

BACKGROUND: Autism spectrum disorder (ASD) is a neurocognitive disorder characterized by impairments in communication and socialization. There are little data comparing the differences in perioperative outcomes in children with and without ASD. We hypothesized that children with ASD would have higher postoperative pain scores than those without ASD. METHODS: Pediatric patients undergoing ambulatory tonsillectomy/adenoidectomy, ophthalmological surgery, general surgery, and urologic procedures between 2016 and 2021 were included in this retrospective cohort study. ASD patients, defined by International Classification of Diseases-9/10 codes, were compared to controls utilizing inverse probability of treatment weighting based on surgical category/duration, age, sex, race and ethnicity, anesthetizing location, American Society of Anesthesiology physical status, intraoperative opioid dose, and intraoperative dexmedetomidine dose. The primary outcome was the maximum postanesthesia care unit (PACU) pain score, and secondary outcomes included premedication administration, behavior at induction, PACU opioid administration, postoperative vomiting, emergence delirium, and PACU length of stay. RESULTS: Three hundred thirty-five children with ASD and 11,551 non-ASD controls were included. Maximum PACU pain scores in the ASD group were not significantly higher than controls (median, 5; interquartile range [IQR], 0-8; ASD versus median, 5; IQR, 0-8 controls; median difference [95% confidence interval {CI}] of 0 [-1.1 to 1.1]; P = .66). There was no significant difference in the use of premedication (96% ASD versus 95% controls; odds ratio [OR], 1.5; [95% CI, 0.9-2.7]; P = .12), but the ASD cohort had significantly higher odds of receiving an intranasal premedication (4.2% ASD versus 1.2% controls; OR, 3.5 [95% CI, 1.8-6.8]; P < .001) and received ketamine significantly more frequently (0.3% ASD versus <0.1% controls; P < .001). Children with ASD were more likely to have parental (4.9% ASD versus 1.0% controls; OR, 5 [95% CI, 2.1-12]; P < .001) and child life specialist (1.3% ASD versus 0.1% controls; OR, 9.9 [95% CI, 2.3-43]; P < .001) presence at induction, but were more likely to have a difficult induction (11% ASD versus 3.4% controls; OR, 3.42 [95% CI, 1.7-6.7]; P < .001). There were no significant differences in postoperative opioid administration, emergence delirium, vomiting, or PACU length of stay between cohorts. CONCLUSIONS: We found no difference in maximum PACU pain scores in children with ASD compared to a similarly weighted cohort without ASD. Children with ASD had higher odds of a difficult induction despite similar rates of premedication administration, and significantly higher parental and child life specialist presence at induction. These findings highlight the need for future research to develop evidence-based interventions to optimize the perioperative care of this population.


Assuntos
Transtorno do Espectro Autista , Delírio do Despertar , Humanos , Criança , Analgésicos Opioides/efeitos adversos , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/induzido quimicamente , Estudos Retrospectivos , Delírio do Despertar/induzido quimicamente , Dor Pós-Operatória/diagnóstico , Dor Pós-Operatória/etiologia , Dor Pós-Operatória/prevenção & controle
8.
Am J Surg ; 227: 165-174, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37863801

RESUMO

INTRODUCTION: As part of the 21st Century Cures Act (April 2021), electronic health information (EHI) must be immediately released to patients. In this study, we sought to evaluate clinician and patient perceptions regarding this immediate release. METHODS: After surveying 33 clinicians and 30 patients, semi-structured interviews were conducted with a subset of the initial sample, comprising 8 clinicians and 12 patients. Open-ended questions explored clinicians' and patients' perceptions of immediate release of EHI and how they adjusted to this change. RESULTS: Ten themes were identified: Interpreting Results, Strategies for Patient Interaction, Patient Experiences, Communication Strategies, Provider Limitations, Provider Experiences, Health Information Interfaces, Barriers to Patient Understanding, Types of Results, and Changes due to Immediate Release. Interviews demonstrated differences in perceived patient distress and comprehension, emphasizing the impersonal nature of electronic release and necessity for therapeutic clinician-patient communication. CONCLUSIONS: Clinicians and patients have unique insights on the role of immediate release. Understanding these perspectives will help improve communication and develop patient-centered tools (glossaries, summary pages, additional resources) to aid patient understanding of complex medical information.


Assuntos
Comunicação , Pacientes , Humanos , Pesquisa Qualitativa
9.
Front Mol Neurosci ; 16: 1253801, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37928069

RESUMO

Structural plasticity, the ability of dendritic spines to change their volume in response to synaptic stimulation, is an essential determinant of synaptic strength and long-term potentiation (LTP), the proposed cellular substrate for learning and memory. Branched actin polymerization is a major force driving spine enlargement and sustains structural plasticity. The WAVE Regulatory Complex (WRC), a pivotal branched actin regulator, controls spine morphology and therefore structural plasticity. However, the molecular mechanisms that govern WRC activation during spine enlargement are largely unknown. Here we identify a critical role for Neogenin and its ligand RGMa (Repulsive Guidance Molecule a) in promoting spine enlargement through the activation of WRC-mediated branched actin remodeling. We demonstrate that Neogenin regulates WRC activity by binding to the highly conserved Cyfip/Abi binding pocket within the WRC. We find that after Neogenin or RGMa depletion, the proportions of filopodia and immature thin spines are dramatically increased, and the number of mature mushroom spines concomitantly decreased. Wildtype Neogenin, but not Neogenin bearing mutations in the Cyfip/Abi binding motif, is able to rescue the spine enlargement defect. Furthermore, Neogenin depletion inhibits actin polymerization in the spine head, an effect that is not restored by the mutant. We conclude that RGMa and Neogenin are critical modulators of WRC-mediated branched actin polymerization promoting spine enlargement. This study also provides mechanistic insight into Neogenin's emerging role in LTP induction.

10.
Digit Health ; 9: 20552076231217813, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38033523

RESUMO

Objective: Recent introduction of a provincially funded and administered teledermatology platform in Quebec presents a major opportunity to improve healthcare delivery to rural Indigenous communities where healthcare is suboptimal. In this study, we assessed approaches, challenges, solutions, and outcomes in implementing teledermatology in rural Indigenous communities of Australia and Canada. Methods: A narrative review was performed using journal articles and grey literatures to assess challenges encountered in Canadian and Australian teledermatology programs in rural Indigenous communities. We then conducted a focused search to identify solutions and outcomes to these challenges. We identified four main areas of focus for implementing teledermatology: financial, cultural, legal, and provider competency. Results: Main financial concerns included identifying the cost-to-benefit ratio of teledermatology and financial benefits of the store-and-forward system compared to videoconferencing. Delivery of teledermatology through culturally considerate services is crucial to mend the mistrust felt by Indigenous people toward mainstream health services. From a legal standpoint, patient confidentiality and physician liability must be considered. A uniform teledermatology platform and physician competency in both telemedicine and dermatology are needed to ensure standard of care. Conclusion: Teledermatology initiatives represent great opportunities to improve healthcare services to rural Indigenous populations.

11.
J Cutan Med Surg ; 27(4): NP1-NP36, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37401812

RESUMO

BACKGROUND: Sex and gender have increasingly been recognized as significant risk factors for many diseases, including dermatological conditions. Historically, sex and gender have often been grouped together as a single risk factor in the scientific literature. However, both may have a distinct impact on disease incidence, prevalence, clinical presentation, severity, therapeutic response, and associated psychological distress. OBJECTIVES AND PROJECT DESCRIPTION: The mechanisms that underlie differences in skin diseases between males, females, men, and women remain largely unknown. The specific objectives of this review paper are:To highlight the biological differences between males and females (sex), as well as the sociocultural differences between men and women (gender) and how they impact the integumentary system.To perform a literature review to identify important sex- and gender-related epidemiological and clinical differences for various skin conditions belonging to a range of disease categories and to discuss possible biological and sociocultural factors that could explain the observed differences.To discuss dermatological skin conditions and gender-affirming treatments within the transgender community, a population of individuals who have a gender identity which is different than the gender identity they were assigned at birth. FUTURE IMPACT: With the rising number of individuals that identify as non-binary or transgender within our increasingly diverse communities, it is imperative to recognize gender identity, gender, and sex as distinct entities. By doing so, clinicians will be able to better risk-stratify their patients and select treatments that are most aligned with their values. To our knowledge, very few studies have separated sex and gender as two distinct risk factors within the dermatology literature. Our article also has the potential to help guide future prevention strategies that are patient-tailored rather than using a universal approach.


Assuntos
Dermatologia , Pessoas Transgênero , Recém-Nascido , Humanos , Masculino , Feminino , Identidade de Gênero , Pessoas Transgênero/psicologia , Fatores de Risco
12.
Otolaryngol Head Neck Surg ; 169(3): 679-686, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-36884018

RESUMO

OBJECTIVE: Determine the detection rate from an expanded targeted early cytomegalovirus (CMV) testing program implemented from a large healthcare system (Intermountain Healthcare, IHC). STUDY DESIGN: Retrospective review. SETTING: Tertiary medical center. METHODS: An electronic system was modified to include indications for testing whenever a provider placed an order for CMV testing. A retrospective analysis of this database was performed. RESULTS: From March 1, 2021 to August 31, 2022, there were 3450 (8.8%) patients who underwent CMV testing out of 39,245 total live births within the IHC system. Since the formal implementation of this program in 2019, annual CMV testing has increased almost 10-fold: 2668 CMV tests were performed in 2021 compared to 289 CMV tests in 2015. The most frequent indication for congenital CMV (cCMV) testing was small for gestational age (SGA) (68.2%), followed by macrocephaly (13.5%), an abnormal hearing test (5.0%), and microcephaly (4.4%). Fourteen cCMV-infected infants were diagnosed all of them meeting the criteria for symptomatic cCMV. The most common indication resulting in a positive diagnosis was those who presented with SGA (n = 10 patients). The positivity rate would result in a prevalence of 35.7 symptomatic cCMV cases diagnosed per 100,000 live births, numbers comparable to those expected for universal cCMV screening. CONCLUSION: An expanded targeted early cCMV testing program may improve detection rates of symptomatic cCMV cases and should be considered as a feasible alternative approach to universal or hearing-targeted early CMV testing.


Assuntos
Infecções por Citomegalovirus , Perda Auditiva Neurossensorial , Doenças do Recém-Nascido , Recém-Nascido , Lactente , Humanos , Citomegalovirus , Estudos Retrospectivos , Triagem Neonatal/métodos , Infecções por Citomegalovirus/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico
13.
J Pediatr ; 257: 113339, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36731714

RESUMO

OBJECTIVES: To determine whether neonatal conjugated or direct bilirubin levels were elevated in infants with biliary atresia (BA) and to estimate the number of newborns who would have positive screens in the nursery necessitating repeat testing after discharge. STUDY DESIGN: We used administrative data from a large integrated healthcare network in Utah to identify newborns who had a fractionated bilirubin recorded during birth admission from 2005 through 2019. Elevated conjugated bilirubin was defined as greater than 0.2 mg/dL and direct bilirubin was defined as greater than 0.5 mg/dL (>97.5th percentile for the assays). We performed simulations to estimate the anticipated number of false-positive screens. RESULTS: There were 32 cases of BA and 468 161 live births during the study period (1/14 700). There were 252 892 newborns with fractionated bilirubin assessed, including 26 of those subsequently confirmed to have BA. Conjugated or direct bilirubin was elevated in all 26 infants with BA and an additional 3246 newborns (1.3%) without BA. Simulated data suggest 9-21 per 1000 screened newborns will have an elevated conjugated or direct bilirubin using laboratory-based thresholds for a positive screen. Screening characteristics improved with higher thresholds without increasing false-negative tests. CONCLUSIONS: This study validates the previous findings that conjugated or direct bilirubin are elevated in the newborn period in patients with BA. A higher threshold for conjugated bilirubin improved screening performance. Future studies are warranted to determine the optimal screening test for BA and to assess the effectiveness and cost-effectiveness of implementing such a program.


Assuntos
Atresia Biliar , Lactente , Recém-Nascido , Humanos , Atresia Biliar/diagnóstico , Bilirrubina , Estudos de Coortes , Utah/epidemiologia , Testes de Função Hepática
14.
J Am Acad Dermatol ; 88(4): 767-782, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36228940

RESUMO

Part 2 of this 2-part CME introduces dermatologists to noninfectious inflammatory skin diseases associated with pulmonary involvement. In many cases, dermatologists may be the first physicians recognizing respiratory complications associated with these diagnoses. Because pulmonary involvement is often the leading cause of morbidity and mortality, dermatologists should be comfortable screening and monitoring for lung disease in high-risk patients, recognizing cutaneous stigmata of lung disease in these patients and referring to pulmonary specialists, when appropriate, for prompt treatment initiation. Some treatments used for skin disease may not be appropriate in the context of lung disease and hence, choosing a holistic approach is important. Interstitial lung disease and pulmonary hypertension are the most common pulmonary complications and a significant cause of mortality in autoimmune connective tissue diseases, especially systemic sclerosis, dermatomyositis, and mixed connective tissue disease. Pulmonary complications, notably interstitial lung disease, are also common and life-threatening in sarcoidosis and vasculitis, while they are variable in neutrophilic and autoimmune blistering diseases.


Assuntos
Doenças Autoimunes , Doenças do Tecido Conjuntivo , Doenças Pulmonares Intersticiais , Dermatopatias , Humanos , Doenças Pulmonares Intersticiais/complicações , Doenças Pulmonares Intersticiais/diagnóstico , Doenças do Tecido Conjuntivo/complicações , Pulmão , Doenças Autoimunes/complicações , Dermatopatias/complicações , Dermatopatias/diagnóstico
15.
J Cutan Med Surg ; 26(2_suppl): 2S-24S, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36000460

RESUMO

Hidradenitis suppurativa (HS) is a chronic, inflammatory skin disease that is characterized by the formation of comedones, papules, nodules, abscesses and sinus tracts in the axillary, inframammary, groin, and gluteal areas. Up to 3.8% of the Canadian population has HS, though due to a lack of awareness of HS, many patients are initially misdiagnosed and do not receive adequate treatment early on in the disease course. Once a diagnosis of HS is made, developing an effective management plan can be a dilemma for many providers. There is significant variability in response to any given therapy within the HS patient population and many HS patients have other medical comorbidities which must be taken into consideration. The aim of this review is to provide a practical approach for all healthcare providers to diagnose and manage HS and its associated comorbidities. A sample electronic medical record template for HS management was developed by the Canadian Hidradenitis Suppurativa Foundation Executive Board and is intended for use in clinical settings. This will help to increase collaboration between primary healthcare providers, dermatologists, and other medical specialists and ultimately improve the quality of care that HS patients receive.


Assuntos
Hidradenite Supurativa , Guias de Prática Clínica como Assunto , Canadá/epidemiologia , Comorbidade , Hidradenite Supurativa/diagnóstico , Hidradenite Supurativa/epidemiologia , Hidradenite Supurativa/terapia , Humanos
16.
Lancet ; 399(10342): 2183-2185, 2022 06 11.
Artigo em Inglês | MEDLINE | ID: mdl-35691313
18.
Mol Cell ; 82(6): 1199-1209.e6, 2022 03 17.
Artigo em Inglês | MEDLINE | ID: mdl-35219382

RESUMO

A compact protein with a size of <1,000 amino acids, the CRISPR-associated protein CasX is a fundamentally distinct RNA-guided nuclease when compared to Cas9 and Cas12a. Although it can induce RNA-guided genome editing in mammalian cells, the activity of CasX is less robust than that of the widely used S. pyogenes Cas9. Here, we show that structural features of two CasX homologs and their guide RNAs affect the R-loop complex assembly and DNA cleavage activity. Cryo-EM-based structural engineering of either the CasX protein or the guide RNA produced two new CasX genome editors (DpbCasX-R3-v2 and PlmCasX-R1-v2) with significantly improved DNA manipulation efficacy. These results advance both the mechanistic understanding of CasX and its application as a genome-editing tool.


Assuntos
Edição de Genes , RNA Guia de Cinetoplastídeos , Animais , Sistemas CRISPR-Cas/genética , Endonucleases/genética , Endonucleases/metabolismo , Edição de Genes/métodos , Mamíferos/metabolismo , RNA/genética , RNA Guia de Cinetoplastídeos/genética , RNA Guia de Cinetoplastídeos/metabolismo
19.
Neonatology ; 119(2): 255-259, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35045419

RESUMO

A high nucleated red blood cell (NRBC) count in a newborn infant at birth is sometimes used to imply that fetal hypoxia occurred. However, it is debated whether many hours are required between fetal hypoxia and the appearance of high NRBC or alternatively, whether this can occur very quickly, with fetal hypoxia within minutes to a few hours before birth. We sought relevant information from four unfortunate cases, where during a previously healthy pregnancy, the mother had a sudden cardiac arrest, with cardiopulmonary resuscitation begun at the incident scene and continued through emergent cesarean section delivery.


Assuntos
Hipóxia Fetal , Parada Cardíaca , Cesárea , Eritroblastos , Contagem de Eritrócitos , Feminino , Sangue Fetal , Parada Cardíaca/terapia , Humanos , Recém-Nascido , Gravidez
20.
Dermatology ; 238(4): 692-710, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35026769

RESUMO

Advances in ultrasound technology and non-surgical treatments of basal cell carcinomas (BCCs) have raised the need to study the performance of high-frequency ultrasound (HFUS) in BCCs. We aimed to assess the performance of HFUS in the evaluation of BCCs to formulate recommendations for its uses and conducted a systematic review of the literature to do so. A search of Central, Medline, Embase, CINHAL, and Web of Science was performed using key/MESH terms "ultrasonography" and "basal cell carcinoma" (January 2005-December 2020). We included primary studies reporting biopsy-confirmed BCCs for which the target intervention was ultrasound assessment at 15 MHz or higher frequency. Thirty articles were included, studying a total of 1,203 biopsy-confirmed BCCs. HFUS provides accurate depth measurements, especially for BCCs >1 mm. The definition of lateral margins in vivo needs further studies; however, ex vivo margin assessment seems convincing. There is a diagnostic role for HFUS in identifying higher recurrence risk BCC subtypes, which can help in risk stratification. Performance of HFUS is significant in BCC management. Pre-surgical scans may support case selection for Mohs. HFUS can improve safety when used to plan brachytherapy treatments, help with case selection and adjunct treatment choice pre-photodynamic therapy. Finally, HFUS can help follow lesions after intervention, particularly non-surgical management, and support the decision to observe or re-intervene. HFUS can enhance clinical practice by providing useful information that cannot be deducted from the clinical examination. It would be recommended to evaluate the extent, mainly depth, and detect the aggressiveness of the BCCs.


Assuntos
Carcinoma Basocelular , Neoplasias Cutâneas , Biópsia , Carcinoma Basocelular/diagnóstico por imagem , Carcinoma Basocelular/terapia , Humanos , Exame Físico , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/terapia , Ultrassonografia
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