[Impact of biofeedback therapy on patients with fecal incontinence or constipation in a gastrointestinal neurophysiology unit in Bogotá, D.C.] / Impacto de la terapia de biorretroalimentación en pacientes con incontinencia fecal o constipación en una unidad de neurofisiología gastrointestinal en Bogotá, D.C.

INTRODUCTION: Treatment of functional disorders of the anorectal unit should focus on the underlying cause. Biofeedback therapy is a functional retraining of the pelvic floor that has proven useful in the treatment of constipation associated with dyssynergia and in the management of fecal incontinence. This study describes the first experiences with this form of biofeedback therapy in Colombia. OBJECTIVE: Describe our experience with biofeedback therapy in the gastrointestinal neurophysiology unit. MATERIALS AND METHODS: This historical cohort included patients with an indication for biofeedback therapy for constipation or fecal incontinence in the gastrointestinal neurophysiology unit during the data collection period. The response to therapy is described by comparing manometricfindings before and after 10 biofeedback sessions. RESULTS: 21 patients were included(71.4% women, the average age was 68, 9 with constipation and 12 with fecal incontinence.Among the patients with constipation there was a significant improvement in 71.4% of those who had rectal hyposensitivity and in 57.1% of those with dyssynergia. Biofeedback therapysignificantly increased the balloon expulsion rate (11.1 vs. 66.7%, p=0.02). In patients with fecal incontinence, there was improvement in 50% of those who had anal hypotonia and in 80% of those who had anal hyposensitivity. CONCLUSIONS: This study demonstrates that biofeedback therapy has a favorable impact on a high number of patients with constipationand fecal incontinence; in our center, the response is similar to that of the world literature.

Ultrasonography use for tongue cancer management: A scoping review.

BACKGROUND: Tongue cancer is associated with debilitating diseases and poor prognostic outcomes. The use of imaging techniques like ultrasonography to assist in the clinical management of affected patients is desirable, but its reliability remains debatable. Therefore, the aim of this study is to investigate the importance of ultrasound use for the clinicopathological management of tongue cancer. METHODS: A scoping review was carried out using specific search strategies in the following electronic databases: PubMed/MEDLINE, Scopus, Web of Science, and Google Scholar. Collected data included bibliographical information, study design, ultrasound equipment, the aim of the ultrasonography use, the timing of ultrasound use during oncological treatment (pre-, trans-, and/or post-operatively), and the advantages and disadvantages of the use of the ultrasound. RESULTS: A total of 47 studies were included in this review after following the selection process. The majority of the studies investigated the use of ultrasound pre-operatively for the investigation of lymph node metastases or to determine the tumor thickness and depth of invasion. The sensitivity, specificity, and accuracy of ultrasound to determine clinical lymph node metastases ranged from 47% to 87.2%, from 84.3% to 95.8%, and from 70% to 86.2%, respectively. The sensitivity and specificity to determine the microscopic depth of invasion were 92.3% and from 70.6% to 82.1%, respectively. CONCLUSION: Ultrasonography seems to be a reliable imaging technique for the investigation of important prognostic parameters for tongue cancer, including depth of invasion and lymph node metastases.

Assessing Clinical Utility of Pharmacogenetic Testing in the Military Health System.

INTRODUCTION: Response to medications can differ widely among individual patients. Adverse drug reactions can lead to serious morbidity and mortality. Pharmacogenetic (PGx) testing can predict responses to medications and increased risks of adverse events where the genetic basis is understood. Several published manuscripts suggest positive impacts of systematic preemptive PGx testing. However, few studies have been conducted on PGx implementation in the Military Health System (MHS). MATERIAL AND METHODS: A cross-sectional study of adult beneficiaries in a primary care clinic at a large military treatment facility was conducted in 2022. Participants underwent PGx genotyping of CYP2C19 and CYP2D6 genes at the Defense Health Agency Genetics Reference Laboratory. Participant medication lists were compared to the current Clinical Pharmacogenetic Implementation Consortium (CPIC) PGx gene-drug guidelines to assess potential actionability of these results. RESULTS: Genotyping of CYP2C19 and CYP2D6 in 165 MHS beneficiaries (mean age: 65 years) revealed that 81.2% of participants had at least one abnormal PGx finding. Among those with an abnormal PGx result, 65% were taking a medication listed on the CPIC website with an association with the particular gene in which the finding was identified. In addition, 78% of all of the participants in the study were taking at least one medication that is metabolized by CYP2C19 or CYP2D6 with associated CPIC guidelines. CONCLUSIONS: Pharmacogenetic testing for CYP2C19 and CYP2D6 identified a substantial proportion of MHS patients at a single center who could benefit from evaluation of current medication regimens based on the CPIC guidelines. Individualized medical management may be warranted to a greater degree than previously recognized based on the findings given possible differences in medication metabolism. Many MHS beneficiaries already take medications metabolized by CYP2C19 and CYP2D6, and a substantial proportion may be at risk for preventable adverse events for medications metabolized by these enzymes. While preliminary, a large number of actionable polymorphisms among a relatively small set of individuals taking at-risk medications suggest that implementing PGx testing in clinical practice may be beneficial in the MHS with appropriate clinical infrastructure.

Biochemical signatures of disease severity in multiple sulfatase deficiency.

Sulfatases catalyze essential cellular reactions, including degradation of glycosaminoglycans (GAGs). All sulfatases are post-translationally activated by the formylglycine generating enzyme (FGE) which is deficient in multiple sulfatase deficiency (MSD), a neurodegenerative lysosomal storage disease. Historically, patients were presumed to be deficient of all sulfatase activities; however, a more nuanced relationship is emerging. Each sulfatase may differ in their degree of post-translational modification by FGE, which may influence the phenotypic spectrum of MSD. Here, we evaluate if residual sulfatase activity and accumulating GAG patterns distinguish cases from controls and stratify clinical severity groups in MSD. We quantify sulfatase activities and GAG accumulation using three complementary methods in MSD participants. Sulfatases differed greatly in their tolerance of reduction in FGE-mediated activation. Enzymes that degrade heparan sulfate (HS) demonstrated lower residual activities than those that act on other GAGs. Similarly, HS-derived urinary GAG subspecies preferentially accumulated, distinguished cases from controls, and correlated with disease severity. Accumulation patterns of specific sulfatase substrates in MSD provide fundamental insights into sulfatase regulation and will serve as much-needed biomakers for upcoming clinical trials. This work highlights that biomarker investigation of an ultra-rare disease can simultaneously inform our understanding of fundamental biology and advance clinical trial readiness efforts.

Sweet potato flour (Ipomoea batatas) as natural antioxidant on carcass yield and meat physicochemical characteristics of Creole chickens of Mexico and Cobb 500.

Antioxidants are considered functional additives against oxidative stress since they avoid nutritional decline in the meat. The main objective of the present study is to evaluate the effect of sweet potato flour (SPF) as a natural antioxidant on carcass yield and physicochemical characteristics of Creole chickens of Mexico (CChM) and Cobb 500 broilers. In total, 210 chickens (105 CChM and 105 Cobb 500 chickens) were randomly assigned to three treatments: 0, 500, and 1000 mg of SPF kg-1 of feed. The Cobb 500 chickens showed higher carcass yield (hot and cold), breast, and breast fillet, whereas the CChM had higher thigh yield (P ≤ 0.05). The yield on the previously mentioned variables was not affected by the inclusion levels of SPF. The initial pH differed because of the effect of the chicken's genotype and the addition of SPF, which was higher on Cobb 500 chicken and on those that were not supplemented with SPF. The birds' skin that consumed SPF presented higher yellowness after 24 h (P ≤ 0.05). CChM manifested a higher dry matter and protein content and a lower content of ash and fat (P ≤ 0.05). In conclusion, Cobb 500 chickens present a higher carcass yield and its components, in addition to a less acid pH; however, CChM offer a higher nutritional contribution, whereas the 500 and 1000 mg addition of SPF increases the skin yellowness, which makes it an alterorganic as a pigment on broiler chicken production.

Development of solid-state fermentation process of spent coffee grounds for the differentiated obtaining of chlorogenic, quinic, and caffeic acids.

BACKGROUND: Spent coffee grounds (SCGs) are a good source of chlorogenic acid (CGA), which can be hydrolyzed to quinic acid (QA) and caffeic acid (CA). These molecules have antioxidant and neuroprotective capacities, benefiting human health. The hydrolysis of CGA can be done by biotechnological processes, such as solid-state fermentation (SSF). This work evaluated the use of SSF with Aspergillus sp. for the joint release of the three molecules from SCGs. RESULTS: Hydroalcoholic extraction of the total phenolic compounds (TPCs) from SCGs was optimized, obtaining 28.9 ± 1.97 g gallic acid equivalent (GAE) kg-1 SCGs using 0.67 L ethanol per 1 L, a 1:9 solid/liquid ratio, and a 63 min extraction time. Subsequently, SSF was performed for 30 days, achieving the maximum yields for CGA, QA, and TPCs on the 16th day: 7.12 ± 0.01 g kg-1 , 4.68 ± 0.11 g kg-1 , and 54.96 ± 0.49 g GAE kg-1 respectively. CA reached its maximum value on the 23rd day, at 4.94 ± 0.04 g kg-1 . The maximum antioxidant capacity was 635.7 mmol Trolox equivalents kg-1 on the 14th day. Compared with unfermented SCGs extracts, TPCs and CGA increase their maximum values 2.3-fold, 18.6-fold for CA, 14.2 for QA, and 6.4-fold for antioxidant capacity. Additionally, different extracts' profiles were obtained throughout the SSF process, allowing us to adjust the type of enriched extract to be produced based on the SSF time. CONCLUSION: SSF represents an alternative to produce extracts with different compositions and, consequently, different antioxidant capacities, which is a potentially attractive fermentation process for different applications. © 2022 Society of Chemical Industry.

Uso ambulatorio de medicamentos potencialmente inapropiados en adultos mayores usuarios de la RAP Metropolitana de ASSE durante 2019 / Potentially inappropriate medication use in older adults assisted as outpatients in ASSE's Metropolitan RAP (Primary Health Care) during 2019 / Uso ambulatorial de medicamentos potencialmente inapropriados em idosos usuários da RAPE Metropolitana da ASSE durante 2019

Introducción: los adultos mayores son una población de riesgo para el desarrollo de reacciones adversas a los medicamentos. Los medicamentos potencialmente inapropiados son aquellos que representan mayores riesgos que beneficios en este grupo etario. Se cuenta con herramientas de apoyo a la prescripción en geriatría que permiten identificar a estos medicamentos y mediante la aplicación de estudios de utilización de medicamentos, podemos describir o analizar el uso de los mismos en una población. Objetivos: reconocer disponibilidad de medicamentos potencialmente inapropiados para adultos mayores en la RAP metropolitana de ASSE durante 2019 y establecer un diagnóstico de situación de consumo de los mismos durante ese año. Método: se realizó un análisis del vademécum institucional mediante la aplicación de los Criterios de Beers 2019 y dos escalas de riesgo anticolinérgico para identificar medicamentos potencialmente inapropiados. Posteriormente se realizó un estudio de utilización de los medicamentos identificados, mediante datos de dispensación de farmacia entre el 1 de enero y 31 de diciembre de 2019. El consumo se expresó en Dosis Diarias Definidas por cada 1000 adultos mayores-año (DHD). Resultados: se identificaron 16 medicamentos potencialmente inapropiados, de los cuales los más usados fueron clonazepam (DHD 69), quetiapina (65,6), alprazolam (DHD 43,7), flunitrazepam (DHD 42,7) y zolpidem (DHD 36,4). Conclusiones: la aplicación de herramientas explícitas facilita la identificación de medicamentos potencialmente inapropiados para adultos mayores y se evidenció un consumo elevado de los mismos durante el año 2019 a expensas de derivados benzodiazepínicos y quetiapina.

Introduction: older adults are at higher risk for developing adverse drug reactions. Potentially inappropriate medications are drugs that have more risks than benefits in this age group. There are a number of tools to support the prescription of medication in geriatrics that allow the identification of these medications, and by applying studies developed on the use of medications we may describe or analyze their impact on a given population. Objectives: to recognize availability of potentially inappropriate medications in older adults in ASSE's Metropolitan RAP during 2019 and to draw conclusions about the current situation in terms of the consumption of this kind of medications. Method: an institutional analysis of medications available in each healthcare provided was conducted through the application of Beers Criteria 2019, and two anticholinergic risk scales were used to identify potentially inappropriate medications. Subsequently, the use of the medications identified was studied by applying pharmacy dispensing data between January 1 and December 31, 2019. Consumption was expressed in defined daily doses every 1000 adults per year (DHD). Results: 16 potentially inappropriate medications were identified, the most widely used of which were clonazepam (DHD 69), quetiapine (65.6), alprazolam (DHD 43.7), flunitrazepam (DHD 42.7) and zolpidem (DHD 36.4). Conclusions: Applying explicit tools makes it easier to identify potentially inappropriate medications for older adults. An increased consumption of these kinds of drugs was noticed during 2019, as a result of benzodiazepine derivatives and quetiapine.

Introdução: os idosos são uma população de risco para o desenvolvimento de reações adversas a medicamentos. Medicamentos potencialmente inapropriados são aqueles que apresentam maiores riscos do que benefícios nessa faixa etária. Existem ferramentas de apoio à prescrição em geriatria que permitem identificar esses medicamentos e, por meio da aplicação de estudos de utilização de medicamentos, descrever ou analisar seu uso em uma população. Objetivos: reconhecer a disponibilidade de medicamentos potencialmente inapropriados para idosos na RAP metropolitana da ASSE durante o ano de 2019 e estabelecer um diagnóstico de consumo durante esse ano. Método: o formulário institucional foi analisado utilizando os Critérios de Beers 2019 e duas escalas de risco anticolinérgico para identificar medicamentos potencialmente inapropriados. Posteriormente, foi realizado um estudo de consumo dos medicamentos identificados, através dos dados de dispensação da farmácia entre 1 de janeiro e 31 de dezembro de 2019. O consumo foi expresso em Doses Diárias Definidas por 1000 idosos-ano (DHD). Resultados: foram identificados 16 medicamentos potencialmente inapropriados, sendo clonazepam (DHD 69), quetiapina (65,6), alprazolam (DHD 43,7), flunitrazepam (DHD 42,7) e zolpidem (DHD 36,4) os mais utilizados Conclusões: a aplicação de ferramentas explícitas facilita a identificação de medicamentos potencialmente inapropriados para idosos; foi observado um alto consumo dos mesmos em detrimento dos derivados benzodiazepínicos e da quetiapina durante o período do estudo.

Evaluation of the Maxillary Sinus of Patients with Maxillary Posterior Implants: A CBCT Cross-Sectional Study.

BACKGROUND: During oral rehabilitation, dental implants in the posterior maxilla can penetrate the maxillary sinus. The aim was to evaluate the presence of maxillary sinus abnormalities in patients with dental implants in the posterior maxillary region using cone-beam computed tomography (CBCT) images. MATERIALS AND METHODS: This was a retrospective cross-sectional study, and CBCT scans of 199 patients (459 dental implants) were evaluated. Implants were assessed according to their relative location to the maxillary sinus floor (up to 2 mm from the maxillary sinus cortex, within 2 mm to intimate contact with the maxillary sinus cortex, apical third inside the maxillary sinus, two-thirds or more inside the maxillary sinus) and bone-fixation tissue (Alveolar ridge or Bone graft). Maxillary sinus abnormalities were classified. Kappa and Weighted Kappa and the Kruskal-Wallis test were applied. RESULTS: A higher prevalence of mucosal thickening and non-specific opacification were observed in implants located within 2 mm to intimate contact with the cortex of the maxillary sinus floor. Of the 66 implants with apical thirds located inside the maxillary sinus, 31 (46.7%) were associated with sinus abnormalities and of all implants (n = 5) with two-thirds or more located inside the maxillary sinus, all of these were associated with sinus abnormalities. No association was observed in relation to implant bone-fixation tissue. CONCLUSIONS: This study found a significant association between dental implant placement near or within the sinus and sinus abnormalities, mainly mucosal thickening and non-specific opacification.

Hyperglycemia affects neuronal differentiation and Nestin, FOXO1, and LMO3 mRNA expression of human Wharton's jelly mesenchymal stem cells of children from diabetic mothers.

Pregestational Diabetes Mellitus (PDM) during pregnancy constitutes an unfavorable embryonic and fetal development environment, with a high incidence of congenital malformations (CM). Neural tube defects are the second most common type of CM in children of diabetic mothers (CDM), who also have an elevated risk of developing neurodevelopmental disorders. The mechanisms that lead to these neuronal disorders in CDM are not yet fully understood. The present study aimed to know the effect of hyperglycemia on proliferation, neuronal differentiation percentage, and expression of neuronal differentiation mRNA markers in human umbilical cord Wharton's jelly mesenchymal stem cells (hUCWJMSC) of children from normoglycemic pregnancies (NGP) and PDM. We isolated and characterized hUCWJMSC by flow cytometry, immunofluorescence, RT-PCR and were induced to differentiate into adipocytes, osteocytes, and neurons. Proliferation assays were performed to determine the doubling time, and Nestin, TUBB3, FOXO1, KCNK2, LMO3, and MAP2 mRNA gene expression was assessed by semiquantitative RT-PCR. Hyperglycemia significantly decreased proliferation and neuronal differentiation percentage in NGP and PDM cells treated with 40 mM d-glucose. Nestin mRNA expression decreased under control glycemic conditions, while FOXO1, KCNK2, LMO3, and MAP2 mRNA expression increased during neuronal differentiation in both NGP and PDM cells. On the other hand, under hyperglycemic conditions, Nestin was significantly decreased in cells from NGP but not in cells from PDM, while mRNA expression of FOXO1 and LMO3 was significantly increased in cells from NGP, but not in cells from PDM. We found evidence that maternal PDM, with hyperglycemia in culture, affects the biological properties of fetal cells. All these results could be part of fetal programming.

Viscosupplementation in the upper and lower compartments of the temporomandibular joint checked by ultrasonography in an ex vivo and in vivo study.

Viscosupplementation (VS) of the temporomandibular joint (TMJ) aims to treat temporomandibular dysfunction (TMD) by stimulating synovial cells to improve intracapsular lubrication. The purpose of the present study was to assess a VS protocol planned with the aid of cone-beam computed tomography (CBCT) and checked by ultrasonography (US). The study was carried out in 3 stages. The first was to check the correspondence between the proposed facial reference points and the osseous components of the joint by means of CBCT. In the second stage, the upper and lower compartments of 20 TMJs of fresh frozen cadavers were injected with coloured liquids, and the accuracy of the technique was confirmed by dissecting the anatomical specimens. The third stage consisted of VS in 10 patients (20 TMJs), with real-time verification of the location of the needle tip by means of ultrasonography. CBCT confirmed the correct locations of the marked points used in the proposed VS protocol. The dissections showed that 13 of the 14 injections effectively reached the upper and lower compartments. The location of the needle tip was effectively verified by ultrasonography, confirming the correct access to both compartments. The proposed protocol was effective for accessing the upper and lower compartments of the TMJ. The evaluated protocol proved to be accurate, safe and clinically reproducible means of VS in the upper and lower compartments of the TMJ.

Effects of root canal enlargement on unprepared areas and coronal dentine thickness of three-rooted maxillary first premolars with different root configurations: A stepwise micro-CT study.

AIM: To evaluate the effects of progressive root canal enlargements on the unprepared surface area and remaining dentine thickness of three-rooted maxillary first premolars with different root configurations. METHODOLOGY: Thirty three-rooted maxillary first premolars with three root configurations (n = 10) were selected and scanned in a micro-CT device. The root canals were sequentially enlarged with rotary instruments sizes 30.02 (step 1), 30.04 (step 2) and 30.06 (step 3). After each step, a new scan was taken. Analysed parameters included morphometric measurements (length, volume and surface area), number of static voxels and minimal dentine thickness. Statistical analyses were performed with one-way anova post hoc Tukey tests and paired sample t-test at a significance level of 5%. RESULTS: No statistical differences were observed amongst groups regarding the morphometric parameters and static voxels (p > .05). The minimal dentine thickness of the distobuccal root significantly changed depending on the root configuration (p < .05), whilst no differences were observed in the other roots (p > .05). A great variation in the position of the minimal dentine thickness was observed after preparation. Overall, mean percentage reduction in dentine thickness was higher in the buccal roots than in the palatal root (p < .05). In the mesiobuccal and distobuccal root, the number of slices with minimal dentine thickness lower than 0.05 mm increases 2 to 3 times and 3 to 4 times, respectively, from steps 1 to 3. CONCLUSIONS: Instruments sizes 30.02 and 30.04 can be safely and effectively used to enlarge the buccal and palatal canals of three-rooted maxillary first premolars.

AZFa, AZFb, AZFc and gr/gr Y-chromosome microdeletions in azoospermic and severe oligozoospermic patients, analyzed from a neural network perspective.

AIM: Analysis of male infertility by molecular methods has increased since recognition of genetic risk factors. The AZFa, AZFb, AZFc, and gr/gr regions on the Y-chromosome can cause male infertility. The aim of this study was to determine the prevalence of Y-chromosome microdeletions in these regions in infertile Mexican patients. MATERIAL AND METHODS: We recruited 57 infertile patients with abnormal sperm count (26 azoospermic and 31 oligozoospermic) and 55 individuals with normal sperm count. Analysis of the regions of interest was performed by PCR. RESULTS: 15.8% of infertile patients presented Y-chromosome microdeletions, whereas no deletions were found in the control group. Deletions were observed in all the analyzed regions except in AZFa. Additionally, the neural network model revealed a mild genotype-phenotype correlation between deletion of the sY1191, sY1291 and sY254 markers with oligozoospermia, azoospermia and cryptozoospermia, respectively. CONCLUSIONS: Our data show that AZFb, AZFc, and gr/gr microdeletions are significantly associated with infertility in Mexican population. In addition, the neural network model revealed a discrete genotype-phenotype correlation between specific deletions and a particular abnormality. Our results reinforce the importance of the analysis of AZF regions as part of the clinical approach of infertile men.

OBJETIVO: La utilización de técnicas moleculares para estudiar la infertilidad masculina se ha incrementado desde el reconocimiento de factores genéticos. Las regiones AZFa, AZFb, AZFc, y gr/gr del cromosoma Y son causa de infertilidad masculina. El objetvo de este estudio fue determinar la prevalencia de microdeleciones en estas regiones en pacientes infértiles Mexicanos. MATERIAL Y MÉTODOS: Reclutamos 57 pacientes infértiles con cuentas espermáticas anormales (26 con azoospermia y 31 con oligozoospermia) y 55 individuos con cuentas espermáticas normales. El análisis de las regiones se realizó mediante PCR. RESULTADOS: 15.8% de los pacientes infértiles presentó microdeleciones, no se encontraron microdeleciones en el grupo control. Las microdeleciones fueron observadas en todas las regiones excepto en AZFa. Adicionalmente, el modelo de red neuronal reveló una leve correlación genotipo-fenotipo entre microdeleciones de los marcadores sY1191, Sy1291 y sY254 con oligozoospermia, azoospermia y criptozoospermia, respectivamente. CONCLUSIONES: Nuestros datos muestran que las microdeleciones en AZFb, AZFc, y gr/gr se asocian significativamente con infertilidad en la población Mexicana. Además, el modelo de red neuronal reveló una discreta correlación genotipo-genotipo entre microdeleciones específicas con una anormalidad en particular. Nuestros resultados refuerzan la importancia del análisis de las regiones AZF en el abordaje de la infertilidad masculina.

Surveying the Genomic Landscape Supporting the Development of Precision Military Aerospace Medicine.

INTRODUCTION: Precision medicine is an approach to healthcare that is modifying clinical management by leveraging technological advances in genomics that assess a patient's genetic information to identify unique predispositions. While the civilian sector is integrating genomics widely to personalize diagnosis and treatment, the military medical environment has reacted more slowly. The operational requirements of military service encourage a tailored approach for focusing military precision medicine on occupation-specific conditions. Here, we present a survey of the genomic landscape related to military aerospace medicine.METHODS: We collated observations from genome-wide association studies (GWAS) relating genetic markers to conditions that may negatively influence flight operations and for which the U.S. Air Force School of Aerospace Medicine's Aeromedical Consult Service (ACS) provides aeromedical waiver guidance. Our sources for identifying relevant literature were the GWAS Catalog, the Atlas of GWAS Summary Statistics, and PubMed/Google Scholar searches.RESULTS: Using the ACS guidance as a starting point, we found 1572 papers describing 84 clinical conditions with genetic associations. The earliest aeromedical GWAS publication was in 2006, increasing to 225 publications in 2019. We identified 42,020 polymorphisms from more than 84 million participants across the studies.CONCLUSION: Our study revealed areas where deeper investigations into how genetic markers manifest in clinical diagnosis, prevention, or risk management could lead to increased medical readiness. Additionally, our results show those clinical areas for which guidance could include genetic risk considerations.Chapleau RR, Regn DD, de Castro MJ. Surveying the genomic landscape supporting the development of precision military aerospace medicine. Aerosp Med Hum Perform. 2022; 93(2):89-93.

The applicability of ultrasound in the diagnosis of inflammatory and obstructive diseases of the major salivary glands: a scoping review.

OBJECTIVES: The purpose of the present scoping review was to determine the contribution of ultrasound images in the diagnosis of inflammatory and obstructive diseases of the major salivary glands (MSGs). METHODS: A search of studies of ultrasonographic assessments of human samples was performed in several electronic databases and grey literature up to July 2021. The extracted data were the examined MSG; the diagnostic value of ultrasound (sensibility, specificity, positive- and negative predictive value, accuracy); features of lesions, including number, echogenicity, echotexture, form, margins, size, posterior acoustic aspect, and location; and related clinical information, such as swelling, palpation, sensible to pain, salivation, lymph nodes, recurrence, duration, and causes. RESULTS: After verifying the eligibility criteria, 90 articles focused on detecting inflammatory, and obstructive diseases of the MSG were gathered, with variable study designs and size samples. A wide variety of pathologies were assessed, including sialolitiasis (n = 45), acute sialadenitis (n = 30), chronic sialadenitis (n = 25), granulamatous diseases (n = 15), Kuttner's tumor (n = 11), juvenile recurrent parotitis (n = 9), abscess (n = 7), post-radiotherapy sialadenitis (n = 6), sialadenosis (n = 9), abscess (n = 7), IgG4-related disease sialadenitis (n = 5), HIV-sialadenitis (n = 4), obstructive sialadenitis (n = 3), iodinated contrast-induced sialadenitis (n = 2), and pneumoparotitis (n = 1). Most studies were case reports or series of cases. Few studies exhibited data about the accuracy of ultrasound in detecting MSG diseases. CONCLUSIONS: The present scoping review concluded that ultrasound aspects of different MSG pathologies are similar but contribute to their differential diagnosis and can be considered as a valuable initial method for assessing the MSG of adults and children.

Precision Medicine-A Demand Signal for Genomics Education.

Pressed by the accumulating knowledge in genomics and the proven success of the translation of cancer genomics to clinical practice in oncology, the Obama administration unveiled a $215 million commitment for the Precision Medicine Initiative (PMI) in 2016, a pioneering research effort to improve health and treat disease using a new model of patient-powered research. The objectives of the initiative include more effective treatments for cancer and other diseases, creation of a voluntary national research cohort, adherence to privacy protections for maintaining data sharing and use, modernization of the regulatory framework, and forging public-private partnerships to facilitate these objectives. Specifically, the DoD Military Health System joined other agencies to execute a comprehensive effort for PMI. Of the many challenges to consider that may contribute to the implementation of genomics-lack of familiarity and understanding, poor access to genomic medicine expertise, needs for extensive informatics and infrastructure to integrate genomic results, privacy and security, and policy development to address the unique requirements of military medical practice-we will focus on the need to establish education in genomics appropriate to the provider's responsibilities. Our hypothesis is that there is a growing urgency for the development of educational experiences, formal and informal, to enable clinicians to acquire competency in genomics commensurate with their level of practice. Several educational approaches, both in practice and in development, are presented to inform decision-makers and empower military providers to pursue courses of action that respond to this need.

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.

Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder caused by pathogenic variants in SUMF1. This gene encodes formylglycine-generating enzyme (FGE), a protein required for sulfatase activation. The clinical course of MSD results from additive effect of each sulfatase deficiency, including metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IIIE, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis. While it is known that affected individuals demonstrate a complex and severe phenotype, the genotype-phenotype relationship and detailed clinical course is unknown. We report on 35 cases enrolled in our retrospective natural history study, n = 32 with detailed histories. Neurologic function was longitudinally assessed with retrospective scales. Biochemical and computational modeling of novel SUMF1 variants was performed. Genotypes were classified based on predicted functional change, and each individual was assigned a genotype severity score. The median age at symptom onset was 0.25 years; median age at diagnosis was 2.7 years; and median age at death was 13 years. All individuals demonstrated developmental delay, and only a subset of individuals attained ambulation and verbal communication. All subjects experienced an accumulating systemic symptom burden. Earlier age at symptom onset and severe variant pathogenicity correlated with poor neurologic outcomes. Using retrospective deep phenotyping and detailed variant analysis, we defined the natural history of MSD. We found that attenuated cases can be distinguished from severe cases by age of onset, attainment of ambulation, and genotype. Results from this study can help inform prognosis and facilitate future study design.