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2.
J Educ Health Promot ; 12: 21, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37034854

RESUMO

BACKGROUND: Human survival requires the ability to communicate. Today's students' use of social media has opened up a slew of new possibilities; nevertheless, it is hard to say how many more may emerge in the future. As the years have gone by, the use of social networking sites has grown in popularity among teenagers. This research investigates both the ways in which social media draws in users and the ways in which it hooks users by revealing the gimmicky worlds that they inhabit. Depending more on social media than on oneself causes a tremendous problem. It is quite challenging to separate human beings from their many electronic devices in today's world. The use of devices gradually began to take over the world. MATERIALS AND METHODS: Qualitative research approaches were used in this research. The qualitative study's findings were gathered from a variety of secondary sources, including media articles, academic journal articles, and past theses. Throughout the course of this study, a discourse analysis method was employed, and several case studies were gathered from news articles and journals. RESULTS: According to the results of the research, addiction to the Internet has been defined as a decrease in an individual's ability to exercise self-control within the context of the social-cognitive framework. The research is based on true events that occurred in and around India. This research article focuses on the various positive and negative effects that social media may have on education and students. It is critical to figure out how to tackle this issue. CONCLUSION: One effective strategy is to restrict their access to social media. The bulk of the disadvantages may be mitigated by reducing the amount of time spent on social media sites. Keeping track of their academic progress and dealing with any problems early on can help them avoid the negative effects of social media on their education.

3.
Cureus ; 14(10): e30177, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36397907

RESUMO

Vanishing white matter disease (VWMD) is the most common childhood-onset inheritable progressive leukodystrophy disorder, which exclusively affects the white matter of the brain. It shows mutations in one of the five eukaryotic translation initiation factor 2B1-5 genes following an autosomal recessive pattern, of which eIF2B5 mutation is the most frequent. These genes play a vital role in the translation and regulation of protein synthesis and mutation in them leads to a dysregulation of the cellular stress response, which in particular disrupts myelination and affects oligodendrocytes and astrocytes while sparing the neurons. Stressful situations, for example, head trauma, sudden fright, acute psychological stress, or infection, provoke severe and rapid neurological deterioration. Although it is more common in childhood, we report a case of an adult presenting with signs and symptoms of VWMD, such as abusive behavior, emotional liability, and motor incoordination. To our knowledge, this is the first case of adult-onset VWMD in Maharashtra, India, confirmed by magnetic resonance imaging (MRI) of the brain.

5.
Seizure ; 91: 66-71, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34102378

RESUMO

PURPOSE: Posterior quadrant disconnection (PQD) is a surgical procedure for medically refractory epilepsy (MRE) involving diffuse regions of the temporo-parieto-occipital lobes. We sought to compare factors and efficacy according to PQD extent. METHODS: We performed a systematic review of the literature reporting the use of PQD since 2004. We analyzed various characteristics of pooled cases, including the role of preoperative studies in patient selection, intraoperative techniques, and outcomes. RESULTS: Our review of 137 patients from nine studies revealed 66% undergoing total PQD and 34% undergoing partial PQD. Interictal electroencephalography (EEG) findings were predominantly characterized as lateralized for total PQD (56%) and localized within the ipsilateral posterior quadrant in patients undergoing partial PQD (53%). Metabolic functional studies [positron emission tomography (PET) or ictal single-photon emission computed tomography (SPECT)] played a role in surgical decision-making in 42% of patients who underwent total PQD. Wada and/or functional magnetic resonance imaging (fMRI) was more often utilized for partial PQD (22%) than total PQD (3%) as was intracranial electroencephalography (icEEG) (30% versus 13%, respectively). Overall, 75% of total PQD patients achieved seizure freedom [defined as Engel I or International League Against Epilepsy (ILAE) Class 1 outcome] in comparison to 63% of partial PQD patients (p = .078). New visual field deficits were seen in 12% and new or worsened hemiparesis in 6%. For patients in either cohort, concordance of interictal and ictal EEG findings was found to be predictive of seizure freedom (p = .048). CONCLUSION: Both total and partial PQD represent effective alternatives for managing patients with MRE whose seizure onset zone (SOZ) involves a diffuse region within the posterior quadrant. While PET and/or SPECT frequently aided in the decision to proceed with total PQD, patients who underwent a tailored, partial multilobar resection were more likely to undergo Wada and/or fMRI testing as well as stage I icEEG studies.


Assuntos
Epilepsia Resistente a Medicamentos , Epilepsia , Epilepsia Resistente a Medicamentos/diagnóstico por imagem , Epilepsia Resistente a Medicamentos/cirurgia , Eletroencefalografia , Epilepsia/diagnóstico por imagem , Epilepsia/cirurgia , Humanos , Imageamento por Ressonância Magnética , Tomografia por Emissão de Pósitrons , Estudos Retrospectivos , Tomografia Computadorizada de Emissão de Fóton Único , Resultado do Tratamento
6.
J Med Econ ; 24(1): 706-716, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33904347

RESUMO

BACKGROUND: Acquired thrombotic thrombocytopenic purpura (aTTP) is a rare hematologic disorder that can lead to serious life-threatening medical complications. OBJECTIVE: The aim of this study was to describe aTTP-related hospital resource utilization, cost, complications, and overall survival among US Medicare and non-Medicare populations following aTTP episodes prior to the US approval of caplacizumab. METHODS: This retrospective study utilized administrative claims data for Medicare Fee-for-Service (FFS) beneficiaries (100% sample) and a sample of commercial, managed Medicaid [MM], Medicare Advantage [MA] plan members from the Inovalon MORE2 Registry. aTTP patients ages 18+ were identified between 2010 and 2018 using a published validated algorithm: ≥1 hospitalization for thrombotic microangiopathy + therapeutic plasma exchange (TPE). 2,279 patients were identified; 65.2% were enrolled in Medicare FFS, 13.6% in commercial, 15.7% in MM, and 5.4% in MA. Mean hospitalization days for aTTP index episode ranged between 12 and 17 days; ∼60% of patients required intensive care. Mean payments for index hospitalization varied by payer [Medicare FFS: $29,024; MA: $12,860; commercial: $9,996 and MM: $10,470]. Among FFS patients, 15.7% died during initial hospitalization and 21.0% died within first 30 days of the event. During follow-up, 11.6-19.6% experienced aTTP-related exacerbation. Incidence rate of relapse and complications per 100 person-years was 5.6 [Medicare FFS: 3.6; MA: 8.7; commercial: 10.4 and MM: 14.7] and 16.7 [FFS: 15.5; MA: 20.5; commercial: 21.7 and MM: 19.1], respectively. Among Medicare patients with and without aTTP, mortality risk was 2.9 (95 % CI: 2.4-3.4) times higher for aTTP vs. non-aTTP patients. CONCLUSION: This is the first real-world study evaluating burden of illness among aTTP patients in the US across payer types. Despite being treated with TPE, patients with aTTP have lower survival rates in comparison to a matched cohort without aTTP. These findings highlight the need for more effective and novel therapies to reduce disease burden for this population.Key pointsIn US Medicare and managed care populations with aTTP between 2010 and 2018, aTTP can lead to significant utilization of ICU services due to clinical complications, and/or relapse following hospital discharge.Despite treatment with therapeutic plasma exchange, acute mortality remains high (15.7%) indicating the need for more effective and novel treatments.


Assuntos
Medicare Part C , Púrpura Trombocitopênica Trombótica , Adolescente , Idoso , Efeitos Psicossociais da Doença , Hospitalização , Humanos , Estudos Retrospectivos , Estados Unidos
7.
J Family Med Prim Care ; 9(4): 1801-1804, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32670921

RESUMO

Urgent care practice (UCP) is a novel concept for India. Urgent care primarily deals with injuries or illnesses requiring immediate care. Medical emergency and urgency can happen anywhere unannounced. Research has shown that 90% of the morbidities can be resolved within the community by primary care physicians lead teams. Given the changing professional demands, non-specialists tend to refer away far too many cases to specialists, undermining generalist medical care, particularly in Indian settings. The spillover of the patient load from the primary care setting to the tertiary care centers is enormous leading to resource mismatch. Family physicians and other primary care providers are best positioned to develop practices and provide good quality urgent care to society. Family physicians, general practitioners, and medical officers are already functioning as the frontline care providers for any emergency or medical urgency arising within communities. Urgent care is essentially ambulatory care or outpatient care outside of a traditional hospital emergency room. "UCP aims to provide timely support, which is easily accessible with a focus on good clinical outcomes, e.g. survival, recovery, lack of adverse events, and complications. Core interventions of urgent care are centered on the 4Rs - Rescue, Resuscitate, Relate, and Refer. At present, there are no available, established training model for future faculty, residents, and medical students on "UCP" in India.

8.
Health Qual Life Outcomes ; 18(1): 195, 2020 Jun 22.
Artigo em Inglês | MEDLINE | ID: mdl-32571349

RESUMO

BACKGROUND: To compare quality of life of patients treated with cetuximab with or without radiation therapy (±RT) vs. cisplatin±RT for locoregionally advanced squamous cell carcinoma of the head and neck (SCCHN) in the real-world setting. METHODS: In this retrospective observational study, electronic medical records and Patient Care Monitor (PCM) survey data from the Vector Oncology Data Warehouse were utilized from adult patients in the United States who received initial treatment with cetuximab±RT or cisplatin±RT for locoregionally advanced SCCHN between January 1, 2007 and January 1, 2017. Quality of life was assessed using PCM index scores and individual PCM items. Cetuximab±RT and cisplatin±RT cohorts were balanced using propensity score weighting. Linear mixed models were used to assess the impact of baseline demographic and clinical characteristics on PCM endpoints. RESULTS: Of 531 patients with locoregionally advanced SCCHN, 187 received cetuximab±RT, and 344 received cisplatin±RT. Before propensity score weighting, the cetuximab±RT cohort was older (mean [SD] age of 63.9 [9.6] years vs. 57.4 [8.6] years), and more likely to be white (82.4% vs. 72.4%) compared to the cisplatin±RT cohort. After propensity score weighting, the two cohort subsamples (cetuximab±RT, N = 60; cisplatin±RT, N = 177) with PCM data showed no significant differences in General Physical Symptoms, Treatment Side Effects, Impaired Ambulation, or Impaired Performance index scores. Patients in the cetuximab±RT cohort had higher Acute Distress index (p = 0.023), Despair index (p = 0.011), and rash (p = 0.003) scores but lower numbness/tingling scores (p = 0.022) than patients in the cisplatin±RT cohort. CONCLUSIONS: Significant group differences were observed in this comparative analysis, as the cetuximab±RT cohort had significantly higher Acute Distress index, Despair index, and rash scores compared with the cisplatin±RT cohort but lower numbness/tingling scores. These patterns of symptoms appear consistent with previously reported symptoms associated with the treatment of SCCHN.


Assuntos
Cetuximab/uso terapêutico , Cisplatino/uso terapêutico , Neoplasias de Cabeça e Pescoço/tratamento farmacológico , Neoplasias de Cabeça e Pescoço/radioterapia , Qualidade de Vida/psicologia , Carcinoma de Células Escamosas de Cabeça e Pescoço/tratamento farmacológico , Carcinoma de Células Escamosas de Cabeça e Pescoço/radioterapia , Idoso , Antineoplásicos Imunológicos/uso terapêutico , Estudos de Coortes , Feminino , Neoplasias de Cabeça e Pescoço/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores Sexuais , Carcinoma de Células Escamosas de Cabeça e Pescoço/epidemiologia , Resultado do Tratamento , Estados Unidos/epidemiologia
9.
Future Oncol ; 15(25): 2943-2953, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31037966

RESUMO

Aim: Little is known about recent treatment patterns among patients with unresected stage III NSCLC in the real world. This retrospective study used medical records from USA community oncology practices to address this knowledge gap. Materials & methods: Eligible patients were stage III NSCLC adults diagnosed between 1 January 2011 and 1 March 2016 without surgical resection. Treatment patterns were assessed across three progression intervals, from stage III diagnosis through third progression. Results: The most common regimen in interval 1 was platinum doublet chemotherapy + radiation therapy, in interval 2 was chemotherapy only, and in interval 3 was non-platinum chemotherapy monotherapy. Conclusion: Most patients were treated following national guidelines, but important unmet needs remain.


Assuntos
Carcinoma Pulmonar de Células não Pequenas/tratamento farmacológico , Carcinoma Pulmonar de Células não Pequenas/radioterapia , Platina/uso terapêutico , Adulto , Idoso , Quinase do Linfoma Anaplásico/genética , Carcinoma Pulmonar de Células não Pequenas/genética , Carcinoma Pulmonar de Células não Pequenas/patologia , Terapia Combinada , Progressão da Doença , Intervalo Livre de Doença , Receptores ErbB/genética , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Proteínas Proto-Oncogênicas p21(ras)/genética
10.
Zootaxa ; 4550(2): 268-276, 2019 Jan 24.
Artigo em Inglês | MEDLINE | ID: mdl-30790867

RESUMO

During surveys for the potential biocontrol agents Merochlorops species complex (Diptera: Chloropidae), to control the invasive weed Hedychium gardnerianum Sheppard ex Ker Gawl. (Zingiberaceae), two new species of Rhogadopsis Brèthes (Braconidae: Opiinae) viz., R. gratia Gupta van Achterberg, sp. n. and R. macrusa Gupta van Achterberg, sp. n. were reared as solitary larval-pupal parasitoids of Merochlorops in the stems of H. gardnerianum. Interestingly, both wasp species have very different ovipositor lengths, in addition to other characters for species delimitation. Perhaps parasitism by the respective wasp species depends on the thickness of the stem harbouring the chloropid larvae. In the present study, both these new species of wasps are described and illustrated, together with notes on their biology. For the first time the genus Rhogadopsis has been found associated with Chloropidae; earlier records concern Agromyzidae.


Assuntos
Dípteros , Vespas , Animais , Índia , Larva , Pupa
11.
Med Oncol ; 36(3): 24, 2019 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-30706218

RESUMO

This study examined real-world clinical outcomes such as progression-free survival (PFS), time to metastasis (TTM), overall survival (OS), and health-related quality of life (HRQOL) in patients with unresected stage III non-small cell lung cancer (NSCLC) treated in the community setting. A retrospective review of medical records extracted from 10 US community oncology practices was conducted. Eligible patients were adults diagnosed with stage III NSCLC from 1/1/2011 to 3/1/2016 without evidence of surgical resection within 6 months after stage III NSCLC diagnosis (index date). PFS, OS, and TTM were assessed from the index date, and were analyzed using Kaplan-Meier and Cox regression analyses. HRQOL was assessed for a subset of patients using a patient-reported measure, the 86-item Patient Care Monitor (PCM). Linear mixed models (LMM) were used to assess the impact of patient characteristics and change in PCM scores associated with progression. Among the sample of 478 patients, median PFS (95% confidence interval) was 10 months (9-11), median OS was 20 months (17-22), and median TTM was 30 months (23-45). Most patients (58.2%) experienced disease progression, which the LMM showed to be associated with significant worsening of physical symptoms and psychological states (p < 0.001). This study documented PFS and OS consistent with published literature. The majority of patients experienced disease progression, which was associated with worsening of HRQOL. These findings highlighted the need for better therapeutic options in patients with unresected stage III NSCLC with potential to improve patient outcomes and HRQOL.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Carcinoma Pulmonar de Células não Pequenas/tratamento farmacológico , Carcinoma Pulmonar de Células não Pequenas/mortalidade , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/mortalidade , Adulto , Idoso , Carcinoma Pulmonar de Células não Pequenas/patologia , Progressão da Doença , Feminino , Humanos , Estimativa de Kaplan-Meier , Neoplasias Pulmonares/patologia , Masculino , Pessoa de Meia-Idade , Intervalo Livre de Progressão , Qualidade de Vida , Estudos Retrospectivos
12.
Sci Rep ; 7(1): 17004, 2017 12 05.
Artigo em Inglês | MEDLINE | ID: mdl-29209045

RESUMO

MicroRNAs (miRNAs) are key post-transcriptional regulators of gene expression that play an important role in the control of fundamental biological processes in both physiological and pathological conditions. Their function in retinal cells is just beginning to be elucidated, and a few have been found to play a role in photoreceptor maintenance and function. MiR-211 is one of the most abundant miRNAs in the developing and adult eye. However, its role in controlling vertebrate visual system development, maintenance and function so far remain incompletely unexplored. Here, by targeted inactivation in a mouse model, we identify a critical role of miR-211 in cone photoreceptor function and survival. MiR-211 knockout (-/-) mice exhibited a progressive cone dystrophy accompanied by significant alterations in visual function. Transcriptome analysis of the retina from miR-211-/- mice during cone degeneration revealed significant alteration of pathways related to cell metabolism. Collectively, this study highlights for the first time the impact of miR-211 function in the retina and significantly contributes to unravelling the role of specific miRNAs in cone photoreceptor function and survival.


Assuntos
Distrofia de Cones/etiologia , Proteínas do Olho/metabolismo , Regulação da Expressão Gênica , MicroRNAs/fisiologia , Células Fotorreceptoras Retinianas Cones/metabolismo , Visão Ocular/fisiologia , Animais , Distrofia de Cones/metabolismo , Distrofia de Cones/patologia , Proteínas do Olho/genética , Feminino , Perfilação da Expressão Gênica , Masculino , Camundongos , Camundongos Knockout
13.
Curr Med Res Opin ; 33(5): 869-876, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-28276256

RESUMO

BACKGROUND: Numerous studies demonstrate that, even with use of statins, many patients are unable to meet their LDL-C goals. This study examined modifications to statin and/or ezetimibe therapy among patients with hyperlipidemia and prior history of cardiovascular (CV) events in a US commercially insured population. METHODS: Adults (age ≥18 years) initiating statins and/or ezetimibe between 1 January 2007 and 31 December 2008 were identified from HealthCore Integrated Research Database. The index date was the initiation date of statins and/or ezetimibe. All patients had ≥1 medical claims related to myocardial infarction, unstable angina, ischemic stroke, transient ischemic attack, coronary artery bypass graft, or percutaneous coronary intervention within 12 months prior to the index date. Treatment modifications to statins and/or ezetimibe initiated on the index date (index therapy) included permanent discontinuation of any lipid lowering therapy (LLT), rechallenge, switching, subtraction, augmentation, and dose changes. RESULTS: Among 17,902 patients, around 90% initiated with statin monotherapy, followed by statin and ezetimibe combination (3.0%: 18-64 years; 3.8%: ≥65 years). Ten percent or less initiated on high intensity statins. Most common treatment modifications were rechallenging index therapy (25.2%: 18-64 years, 27.0%: ≥65 years), switching (27.5%: 18-64 years, 24.6%: ≥65 years), and permanent discontinuation of any LLT (18.6%: 18-64 years, 21.0%: ≥65 years). Only 10% of patients in both groups underwent dose escalation. CONCLUSIONS: Real-world evidence indicates that few high-risk patients initiate therapy with high-intensity statins. More than 50% of patients underwent a rechallenge or switching. Despite high CVD risk profile, approximately 20% of patients permanently discontinued any LLT. Key limitations: Pharmacy claims do not provide information on whether patients who had a pharmacy fill actually took the medication as prescribed. It is unknown whether rechallenge was a simple delay in filling a prescription or an actual rechallenge of their index therapy. Reasons for treatment discontinuations or modifications were unavailable in claims data.


Assuntos
Doenças Cardiovasculares/complicações , Ezetimiba/administração & dosagem , Hiperlipidemias , Conduta do Tratamento Medicamentoso/estatística & dados numéricos , Adulto , Idoso , Feminino , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/administração & dosagem , Hiperlipidemias/complicações , Hiperlipidemias/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Avaliação de Processos e Resultados em Cuidados de Saúde , Estudos Retrospectivos , Fatores de Tempo , Estados Unidos
14.
Zootaxa ; 4237(1): zootaxa.4237.1.4, 2017 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-28264303

RESUMO

Megaprosternum Azevedo (Bethylidae: Scleroderminae) is newly recorded from the Oriental region, and M. cleonarovorum Gupta & Azevedo sp. nov. is described and illustrated from Southern India as a gregarious larval ectoparasitoid of Cleonaria bicolor Thomson (Coleoptera: Cerambycidae) on the host plant Ixora coccinea L. (Rubiacae). This is the first ever documentation of the biology of Megaprosternum Azevedo.


Assuntos
Himenópteros , Animais , Biologia , Besouros , Índia , Larva
15.
Am J Cardiol ; 119(3): 404-409, 2017 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-27887691

RESUMO

A recent analysis of a commercially insured US population found fewer cardiovascular disease (CVD) events in high-risk patients attaining low levels of low-density lipoprotein (LDL), as measured by LDL particle number (LDL-P) versus low LDL cholesterol (LDL-C). Here, we investigated the cost effectiveness of LDL-lowering therapy guided by LDL-P. Patients were selected from the HealthCore Integrated Research Database and followed for 12 to 36 months. Patients who achieved LDL-P <1,000 nmol/l were placed into the LDL-P cohort, whereas those without LDL-P tests, but who achieved LDL-C <100 mg/dl, were placed into the LDL-C cohort. CVD-related costs included all health plan paid amounts related to CVD events or lipid management. Cost effectiveness was assessed through incremental cost-effectiveness ratios, defined as difference in total costs across the cohorts divided by difference in CVD events, measured over follow-up. Each cohort included 2,094, 1,242, and 705 patients over 12-, 24-, and 36-month follow-up. Patients in the LDL-P cohort received more aggressive lipid-lowering therapy and had fewer CVD events during follow-up compared to patients in the LDL-C cohort. This led to greater pharmacy costs and lower medical costs over time. Incremental cost-effectiveness ratio estimates ranged from $23,131 per CVD event avoided at 12 months to $3,439 and -$4,555 at 24- and 36-month follow-up, suggesting a high likelihood that achieving LDL-P <1,000 nmol/l is cost effective. In conclusion, LDL-lowering therapy guided by LDL-P was demonstrated to be cost effective, with greater clinical and economic benefit seen over longer time horizons and with the increased use of generic statins.


Assuntos
Doenças Cardiovasculares/prevenção & controle , LDL-Colesterol/sangue , Dislipidemias/tratamento farmacológico , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Idoso , Doenças Cardiovasculares/economia , Análise Custo-Benefício , Custos de Medicamentos , Dislipidemias/sangue , Dislipidemias/economia , Feminino , Custos de Cuidados de Saúde , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/economia , Lipoproteínas LDL/sangue , Masculino , Pessoa de Meia-Idade , Planejamento de Assistência ao Paciente , Modelos de Riscos Proporcionais , Estudos Retrospectivos
16.
Fetal Pediatr Pathol ; 35(2): 124-8, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26828629

RESUMO

BACKGROUND: Although the most common cause of neonatal intestinal pseudoobstruction (IP) is Hirschprungs disease, rarely myofibrillar myopathy can cause the same. CASE REPORT: This 31+4/7 male infant at autopsy had marked narrowing of the jejunum (0.9 cm long), and colon (7.0 cm long) markedly narrowed segments of the jejunum and large intestine, were noted respectively. Sections from these segments showed eosinophilic periodic acid Schiff stain and desmin positive cytoplasmic inclusion bodies in the myocytes. Transmission electron microscopy performed revealed the presence of abnormal granulofilamentous material around the atrophic sarcomeres, subsarcolemmal rod-shaped and globoid fibrillar inclusions in the intestinal, skeletal, and cardiac myocytes, suggesting a myofibrillar myopathy. CONCLUSION: Pure phenotypic neonatal IP presentation in a myofibrillar myopathy is extremely rare and not reported in the literature. Along with other common causes of neonatal IP, neuromuscular causes should also be investigated.


Assuntos
Pseudo-Obstrução Intestinal/etiologia , Miopatias Congênitas Estruturais/complicações , Miopatias Congênitas Estruturais/patologia , Evolução Fatal , Humanos , Recém-Nascido , Masculino , Microscopia Eletrônica de Transmissão
17.
Urol Case Rep ; 4: 8-10, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26793565

RESUMO

Priapism is a complication rarely seen in leukemia. We report a 19-year-old man presented with persistent painful erection of penis for over 24 hours at home. The patient had underwent immediate irrigation and decompression of priapism by urologist at emergency services of the hospital. This approach resulted in a flaccid penis later. During hospitalization, peripheral blood smear and bone marrow aspiration confirmed the diagnosis of chronic myeloid leukemia.

18.
Anesth Prog ; 62(3): 118-21, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26398129

RESUMO

Airway-related tumors in pediatrics are always challenging for anesthesiologists. We present 2 cases of friable, bleeding large tumors in the oral cavity where conventional methods of securing the airway were not possible. Induction of general anesthesia could potentially lead to complete airway collapse and catastrophic obstruction in such cases. Awake fibrotic intubation is limited in pediatric patients. We describe the innovative use of an endotracheal tube inserted blindly as a nasopharyngeal airway guided by end-tidal carbon dioxide trace. This allowed us to bypass the anatomical obstruction and induce anesthesia using sevoflurane in high-flow oxygen. By the described technique, we were able to maintain and assist the spontaneous breathing of the child as well. We also highlight limitations of the use of a conventional nasopharyngeal airway in such situations.


Assuntos
Manuseio das Vias Aéreas/métodos , Anestesia Endotraqueal/métodos , Anestesia por Inalação/métodos , Anestésicos Inalatórios/efeitos adversos , Éteres Metílicos/administração & dosagem , Neoplasias Bucais/cirurgia , Pré-Escolar , Hemangioma/cirurgia , Humanos , Lactente , Masculino , Neoplasias Bucais/secundário , Neuroblastoma/secundário , Neuroblastoma/cirurgia , Neoplasias Orofaríngeas/secundário , Neoplasias Orofaríngeas/cirurgia , Sevoflurano , Neoplasias da Língua/cirurgia , Traqueostomia/métodos
19.
Proc Natl Acad Sci U S A ; 112(25): E3236-45, 2015 Jun 23.
Artigo em Inglês | MEDLINE | ID: mdl-26056285

RESUMO

Ocular developmental disorders, including the group classified as microphthalmia, anophthalmia, and coloboma (MAC) and inherited retinal dystrophies, collectively represent leading causes of hereditary blindness. Characterized by extreme genetic and clinical heterogeneity, the separate groups share many common genetic causes, in particular relating to pathways controlling retinal and retinal pigment epithelial maintenance. To understand these shared pathways and delineate the overlap between these groups, we investigated the genetic cause of an autosomal dominantly inherited condition of retinal dystrophy and bilateral coloboma, present in varying degrees in a large, five-generation family. By linkage analysis and exome sequencing, we identified a previously undescribed heterozygous mutation, n.37 C > T, in the seed region of microRNA-204 (miR-204), which segregates with the disease in all affected individuals. We demonstrated that this mutation determines significant alterations of miR-204 targeting capabilities via in vitro assays, including transcriptome analysis. In vivo injection, in medaka fish (Oryzias latipes), of the mutated miR-204 caused a phenotype consistent with that observed in the family, including photoreceptor alterations with reduced numbers of both cones and rods as a result of increased apoptosis, thereby confirming the pathogenic effect of the n.37 C > T mutation. Finally, knockdown assays in medaka fish demonstrated that miR-204 is necessary for normal photoreceptor function. Overall, these data highlight the importance of miR-204 in the regulation of ocular development and maintenance and provide the first evidence, to our knowledge, of its contribution to eye disease, likely through a gain-of-function mechanism.


Assuntos
Coloboma/genética , MicroRNAs/genética , Distrofias Retinianas/genética , Sequência de Bases , Coloboma/complicações , Exoma , Feminino , Ligação Genética , Humanos , Masculino , Linhagem , Distrofias Retinianas/complicações , Homologia de Sequência do Ácido Nucleico
20.
Clin Cardiol ; 38(8): 483-91, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26100722

RESUMO

BACKGROUND: Acute cardiovascular (CV) events have been evaluated in patients with specific comorbidities but have not focused on patients with hyperlipidemia or on the their long-term costs. OBJECTIVES: To evaluate incidence of CV events, costs, and resource utilization among patients with hyperlipidemia and baseline risk of CV disease (CVD). METHODS: Patients (age 18 to 64 years) diagnosed with hyperlipidemia or using lipid-modifying medications were identified from administrative claims. Patients were categorized into 3 cohorts based on pre-index clinical characteristics-secondary prevention (SP; history of CV event, n = 15 613); high risk (HR; CVD, n = 47 600); and primary prevention (PP; no CV event history or CVD, n = 60 637)-and followed up to 2 years after the CV event. RESULTS: During follow-up, ≥1 new CV event occurred in 43.0% of the SP cohort, 33.9% of HR, and 20.9% of PP; and ≥3 new events occurred in 19.8% of the SP cohort, 12.9% of HR, and 5.5% of PP. Incremental total costs were $19 320 for SP, $20 003 for HR, and $17 650 for PP. Compared with patients with only 1 CV event, the mean 2-year cost was 30% higher in patients with 2 CV events and 48% higher in patients with 3 CV events. Only 50% of HR patients (with or without CV events) received statins. CONCLUSIONS: Patients with recurrent CV events had higher total health care costs during 24-month follow-up for each type of CV event. Total health care costs among patients with a CV event were higher for the initial as well as subsequent events. Statins and lipid-modifying medications were significantly underutilized in all cohorts, despite the presence of CVD.


Assuntos
Doenças Cardiovasculares/etiologia , Efeitos Psicossociais da Doença , Custos de Cuidados de Saúde/estatística & dados numéricos , Recursos em Saúde/estatística & dados numéricos , Hiperlipidemias/complicações , Adolescente , Adulto , Doenças Cardiovasculares/economia , Doenças Cardiovasculares/epidemiologia , Estudos de Coortes , Feminino , Humanos , Hiperlipidemias/economia , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Medição de Risco , Adulto Jovem
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