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1.
Development ; 149(15)2022 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-35781329

RESUMEN

Cell fate determination is a necessary and tightly regulated process for producing different cell types and structures during development. Cranial neural crest cells (CNCCs) are unique to vertebrate embryos and emerge from the neural plate borders into multiple cell lineages that differentiate into bone, cartilage, neurons and glial cells. We have previously reported that Irf6 genetically interacts with Twist1 during CNCC-derived tissue formation. Here, we have investigated the mechanistic role of Twist1 and Irf6 at early stages of craniofacial development. Our data indicate that TWIST1 is expressed in endocytic vesicles at the apical surface and interacts with ß/δ-catenins during neural tube closure, and Irf6 is involved in defining neural fold borders by restricting AP2α expression. Twist1 suppresses Irf6 and other epithelial genes in CNCCs during the epithelial-to-mesenchymal transition (EMT) process and cell migration. Conversely, a loss of Twist1 leads to a sustained expression of epithelial and cell adhesion markers in migratory CNCCs. Disruption of TWIST1 phosphorylation in vivo leads to epidermal blebbing, edema, neural tube defects and CNCC-derived structural abnormalities. Altogether, this study describes a previously uncharacterized function of mammalian Twist1 and Irf6 in the neural tube and CNCCs, and provides new target genes for Twist1 that are involved in cytoskeletal remodeling.


Asunto(s)
Cresta Neural , Tubo Neural , Animales , Cateninas , Regulación del Desarrollo de la Expresión Génica , Mamíferos/genética , Cráneo/metabolismo , Catenina delta
2.
J Pak Med Assoc ; 73(6): 1308-1310, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37427638

RESUMEN

Basaloid follicular hamartoma is a rare benign malformation of hair follicles, characterised clinically as generalised or localised multiple brown papules mostly on face, scalp and trunk. It may be congenital or acquired with or without any associated disease. Histologically it is composed of epithelial proliferation of basaloid cells with radial disposition enclosed in a fibrous stroma. It is of important consideration because it can be mistaken for basal cell carcinoma both clinically and histologically. Here we report the case of a 51-year-old female with acquired, generalised basaloid follicular hamartomas associated with alopecia, hypothyroidism and hypohidrosis which is an extremely rare disease.


Asunto(s)
Hamartoma , Hipohidrosis , Hipotiroidismo , Enfermedades de la Piel , Neoplasias Cutáneas , Femenino , Humanos , Persona de Mediana Edad , Hipohidrosis/complicaciones , Alopecia/complicaciones , Hamartoma/complicaciones , Hamartoma/diagnóstico , Hipotiroidismo/diagnóstico , Hipotiroidismo/complicaciones , Neoplasias Cutáneas/complicaciones
3.
Cell Mol Biol (Noisy-le-grand) ; 67(1): 125-131, 2021 Jan 31.
Artículo en Inglés | MEDLINE | ID: mdl-34817357

RESUMEN

Experiment was conducted to determine the proximate, minerals, antioxidant capacities and enzymes activities of grape fruit peel and grape fruit pomace along with sensorial evaluation of functional drinks. In this milieu, values of grapefruit peel and pomace powder for moisture, fat, crude protein, carbohydrate, crude fiber, ash, and NFE were recorded as 10.85±1.34,8.9±0.08 , 9.27±0.03, 7.69±0.02, 60.22±2.32, 50.33±2.1, 6.13±0.02, 6.13±0.01, 2.97±0.01 ,2.16±0.01 ,10.56±1.97, 24.97±2.4, respectively whilst in time intervals highest TPC for peel (118.66±8.9) mg/g was observed in 60 min followed by (102.33±7.6) mg/g at 90 min and (82.02±5.5) mg/g at 30 min respectively Whereas, the recorded TPC for pomace at 30, 60 and 90 minute were (112.73±9.1) mg/g has observed in 60 min followed by (97.21±7.9) mg/g at 90 min and (84.55±5.8) mg/g at 30 min respectively. Among the time intervals highest flavonoids contents of peel were at 60 min 52.3±1.9% followed by 52.51±1.7% at 90 min and minimum 50.72±1.4% at 30 min. The highest ABTS value was observed for peel content 248.33±5.6 λg/ml in ethanol extract followed by methanolic extract 212.11±4.4 λg/ml least in water extract 152.5±3.2 λg/ml. The means reviewed FRAP activity highest value for ethanol in peel and pomace were (92.66±5.3 µg/ml Fe2+/g) & (82.47±4.2 µg/ml Fe2+/g) followed by methanol (86.33±4.1 µg/ml Fe2+/g) & (76.83±3.4 µg/ml Fe2+/g) and least in water (66.46±2.2 µg ml Fe2+/g) &(54.24±2.1 µg/ml Fe2+/g) respectively. The color acceptability varied significant effect between 7.49 to 7.55 in T0 to T3. Likewise, storage imparted more significant decline from 7.72 to 7.30 at 0th to 60th days, respectively. The flavor scores were 7.59, 7.41, 7.26 and 7.53 in T0, T1, T2 and T3 respectively. The overall acceptability of drink was significantly increase from initiation (0th) day to termination (60th) day as 7.68 to 6.9.


Asunto(s)
Antioxidantes/análisis , Jugos de Frutas y Vegetales/análisis , Frutas/química , Papaína/metabolismo , Extractos Vegetales/análisis , Subtilisinas/metabolismo , Vitis/química , Antioxidantes/química , Etanol/química , Flavonoides/análisis , Flavonoides/química , Depuradores de Radicales Libres/análisis , Depuradores de Radicales Libres/química , Metanol/química , Extractos Vegetales/química , Proteínas de Plantas/metabolismo , Polifenoles/análisis , Polifenoles/química , Agua/química
4.
Med Teach ; 40(8): 762-780, 2018 08.
Artículo en Inglés | MEDLINE | ID: mdl-30033789

RESUMEN

BACKGROUND/PURPOSE: There is interest to increase diversity among health professions trainees. This study aims to determine the features/effects of interventions to promote recruitment/admission of under-represented minority (URM) students to health professions programs. METHODOLOGY: This registered BEME review applied systematic methods to: title/full-text inclusion review, data extraction, and quality assessment (QA). Included studies reported outcomes for interventions designed to increase diversity of health professions education (HPE) programs' recruitment and admissions. RESULTS: Of 7225 studies identified 86 met inclusion criteria. Interventions addressed: admissions (34%), enrichment (19%), outreach (15%), curriculum (3%), and mixed (29%). They were mostly single center (76%), from the United States (81%), in medicine (45%) or dentistry (22%). URM definition was stated in only 24%. The dimension most commonly considered was ethnicity/race (88%). The majority of studies (81%) found positive effects. Heterogeneity precluded meta-analysis. Qualitative analysis identified key features: admissions studies points systems and altered weightings; enrichment studies highlighted academic, application and exam preparation, and workplace exposure. DISCUSSION/CONCLUSIONS: Several intervention types may increase diversity. Limited applicant pools were a rate-limiting feature, suggesting efforts earlier in the continuum are needed to broaden applicant pools. There is a need to examine underlying cultural and external pressures that limit programs' acceptance of initiatives to increase diversity.


Asunto(s)
Diversidad Cultural , Educación Profesional/métodos , Etnicidad , Personal de Salud/educación , Criterios de Admisión Escolar , Escuelas para Profesionales de Salud , Escolaridad , Etnicidad/educación , Empleos en Salud , Humanos , Metaanálisis como Asunto , Política Pública
5.
Med Teach ; 38(2): 123-36, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26610023

RESUMEN

BACKGROUND/PURPOSE: There is a growing desire for health professions educators to generate high-quality education research; yet, few of them encounter the training to do so. In response, health professions faculties have increasingly been devoting resources to provide members with the skills necessary for education research. The form and impact of these efforts have not been reviewed, though such a synthesis could be useful for practice. The objectives of this systematic review were to (1) identify interventions aimed at building capacity for education research among health professions clinical educators and (2) review the outcomes of these interventions. METHODOLOGY: We developed a systematic review protocol based on our pilot scoping search. This protocol underwent peer review and was prospectively registered with the Best Evidence Medical Education Collaboration. Based on this protocol, we conducted a comprehensive search of health professions' databases and related grey literature. Systematic methods were applied: two independent reviewers completed title screening and full text review for inclusion, data extraction, and methodological quality assessment. Studies were included if they reported outcomes for interventions designed to increase capacity for health professions clinical educators to conduct education research. We conducted a qualitative synthesis of the evidence which included detailed reporting of intervention characteristics and outcomes. RESULTS: Our search returned 14, 149 results, 241 of which were retained after title and abstract screening, and 30 of which met inclusion criteria after full text review. Seven groups of interventions were identified, the most frequent being teaching scholars programs (n = 10), health professions education fellowships (n = 3) or master's programs (n = 4). The most commonly measured outcome was change related to enhanced scholarly outputs (grants, papers, abstracts, and presentations) post-intervention. Unfortunately, most of the included studies lacked detailed description of the intervention and were of low to moderate quality with post-test only design. DISCUSSION/CONCLUSIONS: This review demonstrates that various interventions can have a positive impact on the ability of health professions clinical educators to conduct education research. We note several key elements of the interventions including: (1) protected time, (2) mentorship and/or collaboration, (3) departmental and institutional commitment and leadership, and (4) financial support. Through our analysis we describe the complexities around evaluating clinical educators' health professions research activities and the interventions used to promote education research. While improved study quality would allow more detailed understanding and evaluation of these key features, we are able to provide recommendations for potential strategies for improving participation in and quality of health professions education research based on this analysis.


Asunto(s)
Creación de Capacidad/métodos , Docentes Médicos , Empleos en Salud , Investigación
6.
Can J Infect Dis Med Microbiol ; 25(5): 281-4, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25371692

RESUMEN

A limited number of studies have been published that examine treatment completion rates and interventions used to increase treatment completion within an inner-city population. The purpose of the present study was to determine the rate of latent tuberculosis infection (LTBI) treatment completion in an inner-city population in Edmonton, Alberta, and to identify factors that correlated with treatment completion. A retrospective chart review was conducted involving patients who started LTBI treatment between January 1, 2005 and December 31, 2010 in Edmonton's inner city. A total of 77 patients started treatment and 57 (74%) patients completed LTBI treatment. Homelessness was the only variable that was significantly associated with incomplete treatment (OR 8.0 [95% CI 1.4 to 45.6]) and it remained significant when controlling for drug use (adjusted OR 6.5 [95% CI 1.1 to 38.8]). While the present study demonstrated treatment completion rates comparable with or better than those described in the general population, it highlighted the need for continued emphasis on interventions aimed at improving outcomes within homeless populations.


Quelques études publiées ont porté sur le taux d'achèvement des traitements et les interventions utilisées pour accroître cet achèvement dans la population d'un quartier pauvre. La présente étude visait à déterminer le taux d'achèvement du traitement contre l'infection tuberculeuse latente (ITL) dans la population d'un quartier pauvre d'Edmonton, en Alberta, et déterminer les facteurs qui corrélaient cet achèvement. Les chercheurs ont effectué une recherche rétrospective dans les dossiers des patients qui avaient un amorcé un traitement contre l'ITL entre le 1er janvier 2005 et le 31 décembre 2010 dans un quartier pauvre d'Edmonton. Au total, 77 patients ont amorcé le traitement contre l'ITL et 57 patients (74 %) l'ont terminé. L'itinérance était la seule variable qui s'associait de manière significative à un traitement incomplet (RR 8,0 [95 % IC 1,4 à 45,6]), et elle demeurait significative lorsqu'on tenait compte de la consommation de drogue (RR rajusté 6,5 [95 % IC 1,1 à 38,8]). La présente étude faisait état d'un taux d'achèvement comparable ou meilleur à celui décrit dans la population générale, mais faisait ressortir la nécessité d'insister constamment sur des interventions visant à améliorer les résultats cliniques dans les populations d'itinérants.

7.
Int J Gynaecol Obstet ; 164(1): 157-165, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37458305

RESUMEN

OBJECTIVE: Pregnancy, a nutritionally demanding situation in terms of macro- and micronutrient supply owing to heightened maternal, placental, and fetal needs, significantly affects thiamine reserves. Thiamine deficiency during pregnancy and the postpartum period, presenting with varied manifestations and outcomes, is a relatively common condition in our population. The study aimed to understand the various manifestations and outcomes of acute thiamine deficiency in pregnant and postpartum women, emphasizing the significance of early recognition and thiamine therapy to prevent serious complications during pregnancy and after childbirth. METHODS: This prospective study conducted in a tertiary care center in North India enrolled consecutive pregnant and postpartum women presenting with clinical features consistent with thiamine deficiency disorders, such as thiamine deficiency-related neuropathy, high-output heart failure, heart failure with reduced ejection fraction, Wernicke's encephalopathy, gastric beriberi, and thiamine-responsive acute pulmonary hypertension. In addition to capturing medical history including drug intake, dietary consumption, and comorbidities, women underwent brief relevant clinical examinations and laboratory assessments, including whole-blood thiamine levels. Response to intravenous thiamine supplementation was also monitored. RESULTS: Data of 31 women (12 pregnant, 19 postpartum) with a diagnosis of acute thiamine deficiency and a mean age of 28.88 ± 2.69 years were analyzed. The mean thiamine level was 1.28 ± 0.44 µg/dL with mean blood lactate of 3.46 ± 3.33. The most common presentation was gastric beriberi (n = 10), followed by paraparesis (n = 6), high-output heart failure (n = 6), acute pulmonary hypertension, heart failure with reduced ejection fraction (n = 3 each), and an acute confusional state (n = 2). All patients responded to thiamine challenge. CONCLUSION: In the context of borderline thiamine status, particularly in our population with endemic thiamine deficiency and heightened demand for thiamine during pregnancy and the peripartum period, the deficiency can have varied and serious manifestations of dry and wet beriberi. Early recognition of the clinical features and thiamine therapy can be life-saving. There is a need for validated clinical criteria owing to the non-availability of thiamine testing in resource-limited settings.


Asunto(s)
Beriberi , Insuficiencia Cardíaca , Hipertensión Pulmonar , Deficiencia de Tiamina , Femenino , Humanos , Embarazo , Adulto , Beriberi/diagnóstico , Beriberi/tratamiento farmacológico , Beriberi/etiología , Hipertensión Pulmonar/complicaciones , Hipertensión Pulmonar/tratamiento farmacológico , Estudios Prospectivos , Placenta , Deficiencia de Tiamina/complicaciones , Deficiencia de Tiamina/tratamiento farmacológico , Deficiencia de Tiamina/diagnóstico , Tiamina/uso terapéutico , Insuficiencia Cardíaca/complicaciones , Insuficiencia Cardíaca/tratamiento farmacológico , Parto
8.
Can J Infect Dis Med Microbiol ; 24(3): e50-2, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24421829

RESUMEN

Linezolid is a potentially effective drug for the treatment of patients with drug-resistant tuberculosis. Among 13 patients treated for tuberculosis with linezolid in the present study, nine had treatment success and four remain on treatment. Adverse effects occurred in 11 (85%) patients, of whom three discontinued treatment because of adverse effects. The present study adds to the growing evidence supporting the efficacy of linezolid for tuberculosis, although treatment remains complicated by adverse effects.


Le linézolide est un médicament qui peut être efficace dans le traitement de patients atteints d'une tuberculose résistant aux médicaments. Dans la présente étude, chez 13 patients traités au linézolide contre la tuberculose, neuf ont vu leur traitement réussir et quatre sont toujours en traitement. Des effets indésirables se sont manifestés chez 11 (85 %) patients, dont trois ont arrêté le traitement pour cette raison. La présente étude s'ajoute aux données croissantes étayant l'efficacité du linézolide pour soigner la tuberculose, même si le traitement demeure compliqué par des effets indésirables.

9.
Artículo en Inglés | MEDLINE | ID: mdl-22875581

RESUMEN

We describe correlates of reduced antituberculous serum drug concentrations (SDCs) in HIV-infected patients receiving treatment for active tuberculosis (TB). Cross-sectional analysis of individuals diagnosed with HIV and active TB in Northern Alberta, Canada, was performed. Of the 30 HIV-TB cases, 27 underwent measurement of SDCs. Rates of low SDCs were 9 of 26 (34%) for isoniazid (INH) and 16 of 25 (64%) for rifamycins. Increased weight and elevated body mass index (BMI) correlated with low SDCs for rifampin (P < .05) and increased weight also correlated with reduced SDCs for INH (P < .05). This suggests that conventional antituberculous dosing may be too low and consideration should be given to increase the maximum initial weight-based doses in HIV-infected patients.


Asunto(s)
Antituberculosos/sangre , Coinfección/sangre , Isoniazida/sangre , Rifabutina/sangre , Rifampin/sangre , Tuberculosis/tratamiento farmacológico , Adulto , Antituberculosos/farmacocinética , Antituberculosos/uso terapéutico , Índice de Masa Corporal , Peso Corporal , Coinfección/tratamiento farmacológico , Estudios Transversales , Monitoreo de Drogas , Femenino , Infecciones por VIH/complicaciones , Infecciones por VIH/tratamiento farmacológico , Humanos , Isoniazida/farmacocinética , Isoniazida/uso terapéutico , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Rifabutina/farmacocinética , Rifabutina/uso terapéutico , Rifampin/farmacocinética , Rifampin/uso terapéutico , Tuberculosis/complicaciones
10.
J Ayub Med Coll Abbottabad ; 24(3-4): 65-7, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-24669613

RESUMEN

BACKGROUND: HIV/AIDS is a global problem, South Asia and Africa bearing the maximum burden. The incidence is reported to be rising in Pakistan. It is important to document the prevalence of various risk factors in our population so that appropriate measures could be taken for preventing emergence of new cases. Objectives were to identify the possible etiological factors/high risk behaviour in cases diagnosed as HIV/AIDS presenting at a tertiary care referral centre. METHODS: Prospective observational case series carried out over a one year period at HIV/AIDS referral centre at Allama Iqbal Medical College Lahore. Five hundred patients were included who were positive for HIV on screening devices and then confirmed by ELISA. All these patients were referrals from Punjab AIDS control programme (PACP). A detailed history was taken on a pre-designed Performa specially targeted to identify the known risk factors for HIV infection. RESULTS: Five hundred HIV positive subjects diagnosed by screening device and confirmed on ELISA were included in the present study. Three hundred and fourteen (63%) were males and 186 (37%) were females. Mean age was 35 +/- 12 years. Most prevalent risk factor among these patients was sexual transmission followed by intravenous drug abuse, injections from substandard health facilities, and transmission from infected spouse. CONCLUSION: HIV/AIDS is a preventable disease if the risk factors are avoided. Community awareness for unsafe homo and heterosexual practices and discouraging visits to non qualified health practitioners should be the top priority by PACP apart from controlling the IDUs menace.


Asunto(s)
Infecciones por VIH/prevención & control , Infecciones por VIH/transmisión , Síndrome de Inmunodeficiencia Adquirida/epidemiología , Síndrome de Inmunodeficiencia Adquirida/prevención & control , Síndrome de Inmunodeficiencia Adquirida/transmisión , Adolescente , Adulto , Niño , Ensayo de Inmunoadsorción Enzimática , Femenino , Infecciones por VIH/epidemiología , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Ocupaciones , Pakistán/epidemiología , Prevalencia , Estudios Prospectivos , Factores de Riesgo , Atención Terciaria de Salud
11.
Ethiop J Health Sci ; 32(2): 255-260, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35693569

RESUMEN

Background: Hepatitis A is a vaccine-preventable, feco-oral infection due to poor sanitary conditions. It is predominantly acquired during early childhood and results in lasting acquired protective immunity. However, it results in severe disease which can end up in acute fulminant hepatitis and hepatic failure when acquired during adolescence and adulthood. The prevalence of acute hepatitis A is increasing among children, adolescents, and young adults from higher-income households. They acquire this infection at a later age when they are exposed for the first time to contaminated food and drinks after being brought up in a relatively clean environment. This calls for the introduction of the Hepatitis A vaccine in Ethiopia; possibly as part of the Expanded Program on Immunization (EPI). Methods: Socio-demographic and clinical data were collected from patients who were diagnosed to have hepatitis A infection at Adera Medical Center in 2020. Results: This study showed that clinical acute hepatitis A is becoming common among children, adolescents, and young adults from relatively high-income families. Among patients with acute hepatitis, 89% were from middle and high-income families. Conclusions: There is a need for the incorporation of hepatitis A vaccine in the Ethiopian EPI program.


Asunto(s)
Enfermedades Transmisibles , Hepatitis A , Adolescente , Adulto , Niño , Preescolar , Etiopía/epidemiología , Hepatitis A/epidemiología , Hepatitis A/prevención & control , Vacunas contra la Hepatitis A , Humanos , Programas de Inmunización , Adulto Joven
12.
J Correct Health Care ; 28(6): 429-438, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-36475978

RESUMEN

Incarcerated populations experience higher rates of sexually transmitted infections (STIs) than the general population, alongside inconsistent testing strategies. In response, universal opt-out STIs (chlamydia, gonorrhea, syphilis, and HIV) screening was implemented at admission in a short-term correctional facility in Alberta, Canada, for individuals ≤35 years. A cross-sectional, retrospective evaluation of testing outcomes between March 2018 and February 2020 was completed. Descriptive statistics were used to stratify STIs by gender, age group, and date for univariate analysis. Despite low uptake (31.2%), opt-out screening resulted in high positivity rates (14.9%, 10.8%, 29.5%, and 0.3%, respectively) and treatment completion (93.7%) while capturing a high proportion (52.6%) of asymptomatic cases. Opt-out screening at admission is feasible and can improve STI testing in high-risk individuals experiencing incarceration in Canada.


Asunto(s)
Infecciones por Chlamydia , Gonorrea , Infecciones por VIH , Enfermedades de Transmisión Sexual , Sífilis , Humanos , Estudios Retrospectivos , Estudios Transversales , Alberta/epidemiología , Enfermedades de Transmisión Sexual/diagnóstico , Enfermedades de Transmisión Sexual/epidemiología , Enfermedades de Transmisión Sexual/prevención & control , Gonorrea/diagnóstico , Gonorrea/epidemiología , Gonorrea/prevención & control , Tamizaje Masivo/métodos , Sífilis/diagnóstico , Sífilis/epidemiología , Sífilis/prevención & control , Instalaciones Correccionales , Infecciones por VIH/diagnóstico , Infecciones por VIH/epidemiología , Infecciones por Chlamydia/diagnóstico , Infecciones por Chlamydia/epidemiología , Infecciones por Chlamydia/prevención & control
13.
Cureus ; 14(7): e26634, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35949744

RESUMEN

In recent decades, the general tendency has switched from the use of tobacco products to the inhalation of marijuana with or without the addition of tobacco. The majority of existing research on marijuana use focuses on its euphoric effects. Pneumothorax, pneumomediastinum, and subcutaneous emphysema are infrequently described in the medical literature in association with cannabis use. It is a diagnostic and therapeutic challenge because of its infrequency of occurrence. We see a huge diversity of multisystem involvement linked with marijuana smoking, and physicians should be aware of this uncommon clinical presentation, which might be observed more often because of the recent upsurge in its consumption. We describe a case of a 20-year-old male with a chronic history of marijuana use disorder who was found to have non-tension type pneumothorax, pneumomediastinum, and subcutaneous emphysema on chest imaging. The patient was managed conservatively and did not require any surgical intervention.

14.
Asian Pac J Cancer Prev ; 22(3): 719-724, 2021 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-33773534

RESUMEN

BACKGROUND: Pathogenic germline mutations in BRCA1/2 constitute the majority of hereditary breast and/or ovarian cancers worldwide. Incidence and mortality rate of breast and ovarian cancers in Pakistani women is high. Thus, to establish the diagnosis for targeted therapy in Pakistan, we conducted Next-generation sequencing-based germline testing for the detection of BRCA1/2 oncogenic variants associated with breast and ovarian cancer subtype. METHODS: Peripheral blood of 24 women, diagnosed with breast and epithelial ovarian cancers, was taken from the recruited cases with the consent of performing germline genetic testing. DNA was isolated from the peripheral blood and subjected to indexed BRCA Panel libraries. Targeted NGS was performed for all coding regions and splicing sites of BRCA1 and BRCA2 genes using AmpliSeq for Illumina BRCA Panel and Illumina MiSeq sequencer (placed at AFIP). Analysis of the sequencing results has been done by using Illumina bioinformatics tools. RESULTS: We detected 421 variants having a quality score of 100 in all cases under study. The list of identified variants in BRCA1 and BRCA2 genes was narrowed down after filtering out those which did not pass q30 and those with a minor allele frequency (MAF) > 0.05 based on gnomAD browser. To classify these variants, clinical significance was predicted using external curated databases. As a result, we interpreted (n = 4) 16.7% pathogenic variants in BRCA1 and (n = 6) 25% variants of uncertain significance (VUS) in both genes. Descriptive statistics depicted that the age and BMI of BRCA positive cases are less than BRCA negative cases. CONCLUSION: Our findings exhibit an initial report for the NGS based cancer genetic testing in Pakistan.  This will enable us to pursue screening and diagnosis of hereditary BRCA mutation utilizing the latest state-of-the-art technique locally available in Pakistan ultimately resulting in targeted cancer therapy.


Asunto(s)
Neoplasias de la Mama/genética , Carcinoma Epitelial de Ovario/genética , Carcinoma/genética , Genes BRCA1 , Genes BRCA2 , Síndrome de Cáncer de Mama y Ovario Hereditario/diagnóstico , Neoplasias Ováricas/genética , Adulto , Anciano , Femenino , Mutación de Línea Germinal , Síndrome de Cáncer de Mama y Ovario Hereditario/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Persona de Mediana Edad , Pakistán
15.
Clin Neurol Neurosurg ; 198: 106146, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32823187

RESUMEN

BACKGROUND: The objective of this paper is to assess the clinical outcomes between non-traumatic intracerebral hemorrhage(ICH) in patients using direct oral anticoagulants(DOAC) versus vitamin K antagonists(VKA) for non-valvular atrial fibrillation. We also evaluated the predictors of the poor post-ICH outcomes. METHODS: We have performed pooled meta-analysis to assess long-term clinical outcomes in patients with DOAC-ICH as compared to those with VKA-ICH. A systematic literature search was conducted by searching the full-text English literature in PubMed, EMBASE, and Cochrane databases for observational studies reporting outcomes on interest. MOOSE guidelines were used to collect data till December 31, 2019 and random effects analysis was carried out to account for heterogeneity. For outcomes, risk ratios(RR) and the mean differences were pooled using a random-effects model and weighted mean differences (WMDs), respectively. RESULTS: Seventeen studies met the inclusion criteria (n = 25,354 patients; DOAC-ICH arms = 5,631; VKA-ICH arm = 19,273). Patients with DOAC-ICH had smaller hematoma volumes (WMD=-9.59; 95%CI=-15.33--3.85; I2 = 68.6%) and reduced mortality rate at discharge (RR = 0.82; 95%CI = 0.71-0.96; I2 = 9.4%). There was no significant difference between the two groups in rate of hematoma expansion (RR = 0.79; 95%CI = 0.56-1.11; I2 = 50.9%), unfavorable functional outcome(Modified Rankin Scale) at discharge (RR = 0.82; 95%CI = 0.56-1.18; I2 = 80.2%), unfavorable outcome at 3-months (RR = 0.77; 95%CI = 0.56-1.06; I2 = 63.9), and mortality at 3-months (RR = 0.90; 95%CI = 0.73-1.10; I2 = 35∙8%). Multivariate meta-regression revealed that the average age of patient population had a significantly negative correlation with(RR=-0.202; p = 0.017) hematoma expansion. CONCLUSION: We conclude that use of DOAC is associated with reduced hematoma volume and mortality rate at discharge. Age is a predictor of the poor outcome of hematoma expansion.


Asunto(s)
Anticoagulantes/uso terapéutico , Hemorragia Cerebral/tratamiento farmacológico , Vitamina K/antagonistas & inhibidores , Administración Oral , Anciano , Anciano de 80 o más Años , Hemorragia Cerebral/complicaciones , Hemorragia Cerebral/patología , Femenino , Hematoma/tratamiento farmacológico , Hematoma/etiología , Hematoma/patología , Humanos , Masculino , Resultado del Tratamiento
16.
Infect Prev Pract ; 2(2): 100060, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34368704

RESUMEN

Antimicrobial resistance (AMR) is a global healthcare problem and therefore raising awareness within young learners is imperative. An AMR roadshow was designed to take key stage 4 students' learning 'out of the classroom', assess pre-existing knowledge of AMR and determine the impact of the roadshow on knowledge retention. Knowledge and subsequent retention were measured pre- and post-event through a standardised questionnaire. The roadshow significantly improved knowledge and understanding of AMR, which was retained for a minimum of twelve weeks. Engaging and interactive strategies addressing key health issues provide a positive learning experience which contributes to retained knowledge in young learners.

17.
Int J Prison Health ; 15(3): 273-281, 2019 08 29.
Artículo en Inglés | MEDLINE | ID: mdl-31329036

RESUMEN

PURPOSE: Incarceration provides an opportunity for screening and treatment of sexually transmitted and blood-borne infections (STBBIs) in high-risk groups. The purpose of this paper is to determine positivity rates of STBBI screening within correctional facilities using opt-in strategies and estimate the proportion of admissions tested. DESIGN/METHODOLOGY/APPROACH: A cross-sectional, retrospective review of testing data from January 2012 to August 2015 from three provincial correctional facilities located in Alberta, Canada was completed. Analysis variables included STBBI, gender, facility, collection year and age. STBBI-stratified analysis was performed to identify correlates for positivity using univariate and logistic regressions. FINDINGS: Overall prevalence of chlamydia was 11.2 percent and gonorrhea was 3.5 percent; correlates for both were younger age and facility type. The syphilis prevalence rate was 3.2 percent; correlates included being female, older age, adult facilities, with later years being protective. In total, 14 (0.3 percent) newly diagnosed HIV cases were found, prevalence increased with age. HBV prevalence was 1.7 percent with no significant correlations. Nearly one-tenth (n=422) of those screened for HCV antibody were positive; all variables were significantly correlated. Overall estimates of the proportion of admissions tested by STBBI were low and ranged from 4.8 to 16.1 percent. ORIGINALITY/VALUE: This study found high rates of STBBI in correctional facilities and showed that only a small proportion of the population was tested using an opt-in strategy. Shifting to an "opt-out" strategy may be warranted.


Asunto(s)
Tamizaje Masivo/organización & administración , Prisiones/organización & administración , Enfermedades de Transmisión Sexual/diagnóstico , Enfermedades de Transmisión Sexual/epidemiología , Adolescente , Adulto , Factores de Edad , Patógenos Transmitidos por la Sangre , Canadá/epidemiología , Estudios Transversales , Femenino , Infecciones por VIH/diagnóstico , Infecciones por VIH/epidemiología , Hepatitis/diagnóstico , Hepatitis/epidemiología , Humanos , Masculino , Persona de Mediana Edad , Salud Pública , Estudios Retrospectivos , Factores Sexuales , Adulto Joven
19.
J Correct Health Care ; 24(3): 276-294, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29925287

RESUMEN

Incarcerated women have a disproportionate burden of infectious and chronic disease, substance disorders, and mental illness. This study explored incarcerated women's health and whether a Women's Health Clinic improved care within this vulnerable population. Retrospective chart reviews and focus groups were conducted. Poor access to care in the community due to competing social needs was described. Barriers to care during incarceration included lack of comprehensive gender-specific services, mistrust of providers, and fragmentation. Of 109 women, high rates of mental illness, partner violence, substance use, sexually transmitted infection (STI), and irregular Pap testing were observed. Pap (15% to 54%, p < .001) and STI (17% to 89%, p < .001) testing rates increased. Fragmentation of care remained at transition points, and further work is needed to improve continuity within corrections and the community.


Asunto(s)
Atención a la Salud/organización & administración , Estado de Salud , Salud Mental , Prisiones/organización & administración , Salud de la Mujer , Adolescente , Adulto , Canadá , Femenino , Grupos Focales , Accesibilidad a los Servicios de Salud , Humanos , Violencia de Pareja/estadística & datos numéricos , Persona de Mediana Edad , Evaluación de Necesidades , Estudios Retrospectivos , Enfermedades de Transmisión Sexual/epidemiología , Trastornos Relacionados con Sustancias/epidemiología , Adulto Joven
20.
Am J Health Syst Pharm ; 74(8): 587-592, 2017 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-28389458

RESUMEN

PURPOSE: A case of probable interaction of levothyroxine and ritonavir is presented along with a review of the relevant literature and recommendations on clinical management. SUMMARY: A 37-year-old woman with human immunodeficiency virus infection who had recently undergone thyroidectomy for a benign multinodular goiter presented to a clinic with hypothyroidism (she was also found to be pregnant), and treatment with levothyroxine 75 µg daily was initiated. While receiving antiretroviral therapy (abacavir-lamivudine and lopinavir-ritonavir) during pregnancy, the patient had persistently elevated serum thyroid-stimulating hormone (TSH) concentrations (up to 125.89 µIU/mL) despite gradual escalation of the levothyroxine dosage to 175 µg daily. An interaction between ritonavir and levothyroxine was suspected, and dolutegravir was substituted for lopinavir-ritonavir. Within 4 months, the TSH concentration had normalized. The daily levothyroxine dose was tapered over a 5-month period and stabilized at 125 µg, and TSH concentrations remained within the normal range over an 18-month follow-up period. Scoring of the case using the Drug Interaction Probability Scale yielded a score of 6 out of 11, indicating a probable interaction between levothyroxine and ritonavir. A literature search identified 4 reported cases of interactions involving levothyroxine and ritonavir. CONCLUSION: A potentially serious and underrecognized drug interaction between ritonavir and levothyroxine was observed in a pregnant woman with postthyroidectomy-related hypothyroidism. This case and a review of other cases reported in the literature indicate that higher-than-usual doses of levothyroxine may be required in patients who are taking ritonavir concurrently.


Asunto(s)
Infecciones por VIH/tratamiento farmacológico , Inhibidores de la Proteasa del VIH/farmacología , Hipotiroidismo/tratamiento farmacológico , Ritonavir/farmacología , Tiroxina/farmacología , Adulto , Relación Dosis-Respuesta a Droga , Interacciones Farmacológicas , Femenino , Inhibidores de la Proteasa del VIH/uso terapéutico , Humanos , Ritonavir/uso terapéutico , Tiroxina/uso terapéutico
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