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1.
PLoS One ; 15(11): e0241661, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33151999

RESUMO

PURPOSE: This study was performed to determine the occurrence of ocular surface manifestations in patients diagnosed with coronavirus disease 2019 (COVID-19) due to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). METHODS: A systematic search of electronic databases i.e. PubMed, Web of Science, CINAHL, OVID and Google scholar was performed using a comprehensive search strategy. The searches were current through 31st May 2020. Pooled data from cross-sectional studies was used for meta-analysis and a narrative synthesis was conducted for studies where a meta-analysis was not feasible. RESULTS: A total of 16 studies reporting 2347 confirmed COVID-19 cases were included. Pooled data showed that 11.64% of COVID-19 patients had ocular surface manifestations. Ocular pain (31.2%), discharge (19.2%), redness (10.8%), and follicular conjunctivitis (7.7%) were the main features. 6.9% patients with ocular manifestations had severe pneumonia. Viral RNA was detected from the ocular specimens in 3.5% patients. CONCLUSION: The most common reported ocular presentations of COVID-19 included ocular pain, redness, discharge, and follicular conjunctivitis. A small proportion of patients had viral RNA in their conjunctival/tear samples. The available studies show significant publication bias and heterogeneity. Prospective studies with methodical collection and data reporting are needed for evaluation of ocular involvement in COVID-19.


Assuntos
Infecções por Coronavirus/complicações , Oftalmopatias/virologia , Pneumonia Viral/complicações , Betacoronavirus , Túnica Conjuntiva/virologia , Conjuntivite/virologia , Dor Ocular/virologia , Humanos , Pandemias , Lágrimas/virologia
2.
Zhejiang Da Xue Xue Bao Yi Xue Ban ; 49(5): 644-650, 2020 Oct 25.
Artigo em Chinês | MEDLINE | ID: mdl-33210494

RESUMO

A large number of viruses have been found to be associated with ocular diseases, including human adenovirus, human herpesvirus (HHV), human T lymphotropic virus type-1 (HTLV-1), and newly emerging severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). This group of diseases is prone to be misdiagnosed or missed diagnosis, resulting in serious tissue and visual damage. Etiological diagnosis is a powerful auxiliary mean to diagnose the ocular diseases associated with human adenovirus, herpes simplex virus 1 and varicella-zoster virus, and it provides the leading diagnosis evidence of infections with herpes simplex virus 2, Epstein-Barr virus, cytomegalovirus, HHV-6/7, HHV-8, HTLV-1 and SARS-CoV-2. Virus isolation, immunoassay and genetic diagnosis are usually used for etiologic diagnosis. For genetic diagnosis, the PCR technique is the most important approach because of its advantages of rapid detection, convenient operation, high sensitivity and high specificity.


Assuntos
Oftalmopatias , Pesquisa , Viroses , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/virologia , DNA Viral/genética , Oftalmopatias/diagnóstico , Oftalmopatias/virologia , Humanos , Pandemias , Pneumonia Viral/diagnóstico , Pneumonia Viral/virologia , Pesquisa/tendências , Viroses/diagnóstico , Viroses/virologia
3.
Indian J Ophthalmol ; 68(11): 2391-2395, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33120625

RESUMO

Purpose: To evaluate the impact of 2019 COVID-19 pandemic, national lockdown, and unlocking on ophthalmic care provided by the government-funded apex health institute of India. Methods: Retrospective review of electronic medical records of all patients presenting to the ophthalmology department from March 23, 2020, to July 15, 2020, was compared with that from March 23, 2019, to July 15, 2019. The data between March 23, 2020, to May 31, 2020 (lockdown) and June 06, 2020, to July 15, 2020 (unlock) was compared separately. Parameters evaluated were age, gender, presenting complaints, final diagnosis, treatment advised, and surgical interventions. Results: During the lockdown, routine outpatient flow reduced by 97.14% (P < 0.001), the median age of presentation decreased to 29 years (55 years last year) and males increased by 4.7% (from 61.51% to 66.21%) in 2020. Emergency services decreased by 35.25%, percentage of children decreased by 4.28% (from 34.28% to 30%) and males increased by 13.53% (from 59.97% to 73.5%). Mechanical trauma, microbial keratitis, and conjunctivitis were the most common reasons for presentation. The former lessened by 41.75% while the latter two amplified by 1.25 times and 2 times, respectively. While sanitizer-associated chemical injury increased in proportion, endophthalmitis, and postoperative complications declined. The number of donor corneas collected and emergency therapeutic keratoplasties performed decreased by 99.61% and 92.39%, respectively (P < 0.001). During the unlocking phase, routine patient consultations were 71 ± 19/day, significantly lower than 978 ± 109/day of last year (P < 0.001). No voluntary eye donation was reported during this period. Conclusion: COVID-19 pandemic and national lockdown severely hampered the delivery of ophthalmic care by the apex-ophthalmic institute. Unlike anticipated, lifting of pandemic-associated lockdown served only minimally in improving patient inflow in its initial phases.


Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Assistência à Saúde/estatística & dados numéricos , Oftalmopatias/epidemiologia , Pandemias , Pneumonia Viral/epidemiologia , Quarentena/estatística & dados numéricos , Centros de Atenção Terciária/estatística & dados numéricos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Bancos de Olhos/estatística & dados numéricos , Oftalmopatias/terapia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Oftalmologia/estatística & dados numéricos , Estudos Retrospectivos , Doadores de Tecidos/estatística & dados numéricos
4.
Indian J Ophthalmol ; 68(11): 2396-2398, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33120626

RESUMO

Purpose: With the outbreak of coronavirus disease 2019 (COVID-19), India went for lockdown-I on March 23, 2020. In this article, we report on the demographic profile and ocular disorders from our 20 rural eye centres during lockdown-I and its comparison with the pre-lockdown period. Methods: A retrospective analysis was conducted for all patients who visited or had teleconsultations at the 20 rural centres in our network between March 23 and April 19, 2020. Demographic and clinical details were collected from electronic medical records (EMR). Subspecialty was decided based on the diagnosis. Patients who needed advanced care were referred to the higher tertiary centres. We report the profile of patients seen and managed at the rural centres and the reasons for referrals. We also compare the data with the pre-lockdown period. Results: During the lockdown-I period, a total of 263 patients were treated including 48 teleconsultations (18.25%). The mean age was 48.16 years (SD: 19.53 years). There were 118 females (44.87%). As compared to pre-lockdown, during the lockdown, the patient visits were highest in the cornea and anterior segment specialty with 114 patients (43.35%), including conjunctivitis (n = 25; 22.32%). Of the 263 patients, 24 patients (9.12%) were referred to tertiary centres. This includes 6/27 (22.22%) patients of microbial keratitis. As compared to this, during pre-lockdown, 28,545 patients were seen. The mean age was 49.03 years (SD: 19.24 years). There were 14,927 (52.29%) females. The referral was 1525 (5.34%), including 34/249 (13.65%) of those with keratitis. Conclusion: Lockdown-I had significantly impacted patient care in rural areas. As compared to the pre-lockdown period, during the lockdown, there was an issue with access to services by females. Despite a higher number of specialty patients (including emergencies) visiting during the lockdown, 91% of the patients who visited rural centres could be managed locally, avoiding long-distance travel.


Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Oftalmopatias/epidemiologia , Pneumonia Viral/epidemiologia , Quarentena/estatística & dados numéricos , População Rural/estatística & dados numéricos , Centros de Atenção Terciária/estatística & dados numéricos , Adulto , Idoso , Estudos Transversais , Assistência à Saúde/estatística & dados numéricos , Feminino , Humanos , Índia/epidemiologia , Masculino , Pessoa de Meia-Idade , Pandemias , Encaminhamento e Consulta/estatística & dados numéricos , Estudos Retrospectivos
5.
Washington, D.C.; PAHO; 2020-10-23.
em Inglês | PAHO-IRIS | ID: phr-52930

RESUMO

The effects of climate change on human health are unequivocal and can already be perceived worldwide. Phenomena such as heat waves, cold waves, floods, droughts, hurricanes, storms, and other extreme weather events can impact health both directly and indirectly, as well as trigger or exacerbate certain conditions and, consequently, put pressure on health services and their infrastructure. These include vector-borne, waterborne, and foodborne diseases—due to changes in the behavior and distribution of vectors and pathogens—and mental health disorders induced by mounting social unrest and forced displacement. Climate change for health professionals is a pocket book based on empirical data that offers essential information for medical personnel and other health professionals to realize the impacts of climate change on their daily practice. With this quick reference guide, providers can easily recognize diseases and side effects related to climate change, implement appropriate management and provide guidance to exposed populations, provide up-to-date information on the relationship between the adverse effects of certain drugs and the worsening of climate-sensitive health conditions, and determine the possible consequences of climate change for health services. This book addresses key meteorological risks, as well as the health conditions which they may influence, grouped by specific clinical areas. With this publication, the Pan American Health Organization aims to help build knowledge on the subject and strengthen the capacity of health systems to predict, prevent, and prepare, with a view to offering continuous high-quality health services in a world where climate is changing rapidly.


Assuntos
Mudança Climática , Meio Ambiente e Saúde Pública , Doenças Cardiovasculares , Doenças Respiratórias , Nefropatias , Oftalmopatias , Dermatopatias , Gastroenteropatias , Saúde Mental , Indicadores de Saúde Comunitária , Doenças Transmitidas por Vetores , Efeitos do Clima
7.
Medicina (Kaunas) ; 56(10)2020 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-33019514

RESUMO

Background and objectives: the emergency department (ED) is frequently identified by patients as a possible solution for all healthcare problems, leading to a high rate of misuse of the ED, possibly causing overcrowding. The coronavirus disease 2019 (COVID-19) pandemic started in China; it then spread throughout Italy, with the first cases confirmed in Lombardy, Italy, in February 2020. This has totally changed the type of patients referred to EDs. The aim of this study was to analyze the reduction of ED admissions at a Second level urban teaching (Fondazione Policlinico Universitario Agostino Gemelli IRCCS) during the COVID-19 pandemic. Materials and Methods: in this retrospective observational cross-sectional study, we reviewed and compared clinical records of all the patients consecutively admitted to our ED over a 40-day period (21 February -31 March) in the last three years (2018-2019-2020). Mean age, sex, triage urgency level, day/night admission, main presentation symptom, and final diagnosis, according to different medical specialties, hospitalization, and discharge rate, were analyzed. Results: we analyzed 16,281 patient clinical records. The overall reduction in ED admissions in 2020 was 37.6% compared to 2019. In 2020, we observed an increase in triage urgency levels for ED admissions (the main presentation symptom was a fever). We noticed a significant drop in admissions for cardio-thoracic, gastroenterological, urological, otolaryngologic/ophthalmologic, and traumatological diseases. Acute neurological conditions registered only a slight, but significant, reduction. Oncology admissions were stable. Admissions for infectious diseases were 30% in 2020, compared to 5% and 6% in 2018 and 2019, respectively. In 2020, the hospitalization rate increased to 42.9% compared to 27.7%, and 26.4% in previous years. Conclusions: the drastic reduction of ED admissions during the pandemic may be associated with fear of the virus, suggesting that patients with serious illnesses did not go to the emergency room. Moreover, there was possible misuse of the ED in the previous year. In particular, worrisome data emerged regarding a drop in cardiology and neurology admissions. Those patients postponed medical attention, possibly with fatal consequences, just for fear of exposure to COVID-19, leading to unnecessary morbidity and mortality.


Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Serviço Hospitalar de Emergência/estatística & dados numéricos , Pandemias , Admissão do Paciente/estatística & dados numéricos , Pneumonia Viral/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Serviço Hospitalar de Emergência/tendências , Oftalmopatias/epidemiologia , Feminino , Gastroenteropatias/epidemiologia , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Neoplasias/epidemiologia , Doenças do Sistema Nervoso/epidemiologia , Otorrinolaringopatias/epidemiologia , Admissão do Paciente/tendências , Estudos Retrospectivos , Doenças Torácicas/epidemiologia , Doenças Urológicas/epidemiologia , Ferimentos e Lesões/epidemiologia , Adulto Jovem
9.
Discov Med ; 29(158): 145-157, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33007190

RESUMO

Coronavirus disease 2019 (COVID-19), a newly identified acute respiratory disease caused by a strain of novel coronavirus (SARS-CoV-2), has become a worldwide pandemic. From December 2019 to present, millions of cases have been reported, bringing unprecedented pressure on both health and epidemic prevention services in every country. As frontline healthcare workers, ophthalmologists face an increased threat of viral infection, not only because of close contact with patients during examinations or operations, but also due to evidence showing that ocular fluids such as tears or conjunctival secretions may carry the virus. The risk that healthcare workers face is emphasized by the loss of our colleagues who have sacrificed themselves in combating the virus. As a result, it is necessary to have a comprehensive understanding of the threats that we face. In the first part of this review, we start by explaining the structure of SARS-CoV-2 and examining its transmission and means of infection. Next, we summarize the latest scientific advancements of epidemiology, clinical presentations, and current treatments of COVID-19. In the second half of the review, we emphasize the ocular transmission, symptomatic manifestations, and the essential knowledge in an ophthalmology clinic setting. As the pandemic of COVID-19 continues to pose a threat to global health, we hope that this review makes a contribution to combating COVID-19.


Assuntos
Betacoronavirus/patogenicidade , Infecções por Coronavirus/complicações , Oftalmopatias/virologia , Pneumonia Viral/complicações , Antivirais/uso terapêutico , Betacoronavirus/efeitos dos fármacos , Betacoronavirus/imunologia , Técnicas de Laboratório Clínico/métodos , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/terapia , Infecções por Coronavirus/transmissão , Reposicionamento de Medicamentos , Oftalmopatias/diagnóstico , Oftalmopatias/imunologia , Oftalmopatias/terapia , Humanos , Imunização Passiva/métodos , Fatores Imunológicos/uso terapêutico , Medicina Tradicional Chinesa/métodos , Pandemias , Pneumonia Viral/epidemiologia , Pneumonia Viral/terapia , Pneumonia Viral/transmissão
10.
Curr Opin Ophthalmol ; 31(6): 514-520, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33002989

RESUMO

PURPOSE OF REVIEW: Ocular manifestations of leprosy do occur despite advances in the areas of leprosy research. Understanding the nuances in the domain shall guide the clinician for effective patient-centered care. RECENT FINDINGS: Despite the existence of microbiologic cure for leprosy, ocular manifestations of this disease do occur. Advances in genetic and genomic studies have better characterized the interaction that the bacteria has with the host. The ocular features vary with the spectrum of the disease. Its careful correlation can help to predict the bacillary load of the patient. Investigations are particularly relevant in multibacillary cases. The WHO suggests a treatment duration longer than the 2 years in ocular involvement. SUMMARY: The isolation of lepra bacilli from the iris biopsy in negative skin smear patients and multidrug therapy completion highlights the potential role of bactericidal agents in the planned intraocular treatment. Lepra reactions need careful titration of oral steroids and appropriate antibacterial agents. Advances in phacoemulsification with in the bag implantation of intraocular lenses is a game changer in the management of the most common cause of blindness of leprosy. Advances in vaccine research in leprosy are promising.


Assuntos
Oftalmopatias , Hanseníase , Animais , Biópsia , Quimioterapia Combinada , Oftalmopatias/tratamento farmacológico , Humanos , Lentes Intraoculares , Hansenostáticos/uso terapêutico , Hanseníase/tratamento farmacológico , Hanseníase/microbiologia , Hanseníase/patologia , Facoemulsificação
11.
Curr Opin Ophthalmol ; 31(6): 508-513, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33009084

RESUMO

PURPOSE OF REVIEW: The aim of this article is to summarize up-to-date research on the effects of obstructive sleep apnea (OSA) on retinal vascular conditions. RECENT FINDINGS: OSA is associated with the development of diabetic retinopathy, retinal vein occlusion, and central serous chorioretinopathy. The severity of OSA and biomarkers such as the apnea-hypopnea index (AHI) correlate with the severity of retinal disease. Dysregulation of circadian locomotor output cycles kaput (CLOCK) genes that govern circadian rhythm is associated with development of proliferative retinal disease. SUMMARY: OSA and retinal vascular disease have a high cost burden on the healthcare system. OSA creates systemic changes and hypoxic conditions that may incite or exacerbate retinal vascular diseases. Retinal changes may be the first clinical manifestation of otherwise undiagnosed OSA, so it is important to refer patients with new-onset retinal vascular disease for appropriate sleep testing.


Assuntos
Oftalmopatias/complicações , Apneia Obstrutiva do Sono , Biomarcadores , Ritmo Circadiano , Humanos , Polissonografia , Doenças Retinianas/complicações , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/etiologia , Apneia Obstrutiva do Sono/fisiopatologia
12.
Curr Opin Ophthalmol ; 31(6): 521-531, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33009085

RESUMO

PURPOSE OF REVIEW: Ocular sarcoidosis is one of the most common causes of uveitis worldwide. The diagnosis and treatment of patients with ocular sarcoidosis remains challenging in some cases. It is important for clinicians to keep up to date with new diagnostic and treatment tools for this disease. RECENT FINDINGS: The International Workshop on Ocular Sarcoidosis diagnostic criteria were first proposed in 2009 and revised in 2017. The new criteria contained two parts: ocular presentation and systemic investigation. The diagnostic value of liver enzymes was reduced in the new criteria, whereas the value placed of lymphopenia and the CD4/CD8 ratio in bronchoalveolar lavage fluid were increased. Despite not being included in the criteria, recent studies have also highlighted the diagnostic value of serum soluble interleukin-2 receptors. Recent ophthalmologic imaging also provides useful insights for the differential diagnosis.Many new treatments for ocular sarcoidosis have been developed in recent years. The introduction of biological immunomodulatory agents for uveitis treatment represents a big improvement. Antitumor necrosis factor-alpha antibodies, including adalimumab, have been proven to be effective for treating ocular sarcoidosis. Many studies have also suggested that other biological agents could be effective and well tolerated. Newer intravitreal dexamethasone and fluocinolone implants have been developed. Patients treated with these implants have experienced good and sustained control of their intraocular inflammation. SUMMARY: Diagnosis and treatment options for ocular sarcoidosis have changed over time. However, challenges still exist in some difficult patients. Future studies should focus on finding more sensitive biomarkers and developing more effective immunomodulatory treatments with longer efficacy and less side effects.


Assuntos
Oftalmopatias/diagnóstico , Oftalmopatias/tratamento farmacológico , Sarcoidose/diagnóstico , Sarcoidose/tratamento farmacológico , Biomarcadores/análise , Diagnóstico Diferencial , Endoftalmite/diagnóstico , Humanos
13.
Curr Opin Ophthalmol ; 31(6): 538-548, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33009087

RESUMO

PURPOSE OF REVIEW: This review provides a historic perspective of the impact that major pandemics have had on human and their relationship with ophthalmology. The novel coronavirus epidemic is also analyzed, highlighting the relevance of the eye as a possible source of transmission, infection, and prognosis for the disease. RESULTS: Smallpox is suspected to be present for more than 12 000 years. However, trachoma seems to be the first recorded ophthalmological infectious disease. The deadliest pandemics include the bubonic plague, smallpox, and Spanish flu. The CoVID-19 epidemic is still developing and measures need to be implemented to prevent further escalation of the crisis. SUMMARY: Understanding the current facts in light of earlier historical evidence may help us prepare better to minimize the spread of infections in the future.


Assuntos
Oftalmopatias/epidemiologia , Pandemias , Animais , Betacoronavirus , Infecções por Coronavirus , Humanos , Influenza Pandêmica, 1918-1919 , Influenza Humana/epidemiologia , Influenza Humana/prevenção & controle , Influenza Humana/transmissão , Pneumonia Viral
14.
Niger J Clin Pract ; 23(9): 1254-1259, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32913165

RESUMO

Aims: The aim of the study is to determine the confidence of general practitioners (GPs) with ophthalmic exam and management of eye diseases. Materials and Methods: Using self-administered questionnaire, information on sociodemographics, medical practice experience, confidence with eye exam, and management of eye diseases was obtained from GP at the General Outpatient Department. Responses on level of confidence were ranked with Likert scale and analyzed with the Statistical Package for Social Science, version 23. Results: Twenty-two GPs with mean medical practice experience of 17.4 ± 8.5 years participated. Twelve (54.5%) GPs routinely examined patients' eyes. Pen torch assessment of ocular surface was most commonly performed eye exam, 1 (4.6%) did visual acuity, while none performed ophthalmoscopy. Seventeen (77.3%) GPs rated themselves average or higher in interpreting pen torch examination of ocular surface. Expressed diagnostic confidence was highest for pterygium, 19 (86.4%), and low for interpreting visual acuity, 8 (36.4%); 13 (59.1%) were confident with diagnosing cataract. While all GPs (100.0%) were not confident with diagnosing and managing posterior segment diseases, 19 (86.4%) felt that they could confidently manage allergic and bacterial conjunctivitis, respectively. Seventeen (77.3%) GPs thought their undergraduate exposure in ophthalmology was inadequate and 21 (95.5%) felt that update courses in ophthalmology were necessary. Conclusions: Half of the GPs performed eye examination. Self-reported confidence in ophthalmoscopy, diagnosis, and management of posterior segment diseases was low among GPs. Diagnostic confidence was highest for pterygium. Continuing ophthalmic education and provision of basic ophthalmic equipment are recommended to improve confidence of GP in management of ocular disorders.


Assuntos
Competência Clínica , Oftalmopatias/diagnóstico , Clínicos Gerais/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Oftalmologia , Adulto , Atitude do Pessoal de Saúde , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Oftalmologia/educação , Oftalmologia/instrumentação , Autoeficácia , Autorrelato , Inquéritos e Questionários
15.
PLoS One ; 15(9): e0239748, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32976546

RESUMO

Significant number out of 2.2 billion vision impairments in the world can be attributed to genetics. The current study is aimed to decipher the genetic basis of Leber congenital Amaurosis (LCA), Anterior Segment dysgenesis (ASD), and Retinitis Pigmentosa (RP), segregating in four large consanguineous Pakistani families. The exome sequencing followed by segregation analysis via Sanger sequencing revealed the LCA phenotypes segregating in families GCUF01 and GCUF04 can be attributed to c.465G>T (p.(Gln155His)) missense and novel c.139_140delinsA p.(Pro47Trhfster38) frameshift variant of AIPL1 and GUCY2D, respectively. The c.1843A>T (p.(Lys615*) truncating allele of MERTK is homozygous in all the affected individuals, presumably suffering with RP, of the GCUF02 family. Meanwhile, co-segregation of the ASD phenotype and the c.289A>G (p.(Ile97Val)) variant of FOXE3 was found in the GCUF06 family. All the identified variants were either absent or present in very low frequencies in the control databases. Our in-silico analyses and 3D molecular modeling support the deleterious impact of these variants on the encoded proteins. Variants identified in MERTK, GUCY2D, and FOXE3 were categorized as "pathogenic" or "likely pathogenic", while the missense variant found in AIPL1 was deemed to have "uncertain significance" based upon the variant pathogenicity guidelines from the American College of Medical Genetics and Genomics (ACMG). This paper highlights the genetic diversity of vision disorders in the Pakistani population and reports the identification of four novel mutations in families who segregate clinically heterogeneous eye diseases. Our results give insight into the genotype-phenotype correlations of AIPL1, FOXE3, MERTK, and GUCY2D variants.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Oftalmopatias/genética , Fatores de Transcrição Forkhead/genética , Guanilato Ciclase/genética , Mutação , Receptores de Superfície Celular/genética , c-Mer Tirosina Quinase/genética , Adolescente , Adulto , Idoso , Criança , Oftalmopatias/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Paquistão , Linhagem , Fenótipo
16.
PLoS One ; 15(9): e0239769, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32976549

RESUMO

PURPOSE: To report the significance of extraglandular ocular involvement and long-term systemic morbidity and mortality in primary Sjögren's Syndrome (SS). METHODS: This retrospective, longitudinal cohort study included consecutive patients with primary SS evaluated at a tertiary referral center. An electronic chart review was performed and all available data were extracted from clinic visits between October 1999 and March 2019. The primary outcome measures included occurrence of extraglandular ocular manifestations of SS, serological markers, prevalence of malignancy, and incidence of death. RESULTS: One hundred and twenty-six SS patients with minimum 3 years of follow-up (median 9.6, range 3.0-15.9 years, total of 1,235 patient-years) were included. Of those, 10 patients with inflammatory keratolysis or scleritis had 2.3 times greater likelihood of death compared to the rest of the cohort (OR = 2.3, 95% confidence interval [CI] 0.5 to 4.0, p = 0.01) due to SS related complications. The lifetime prevalence of any malignancy in the entire cohort was 15.5%. The most common hematologic malignancy was non-Hodgkin's lymphoma (4.8%) and the most common solid malignancy was breast cancer (6.0%). Men SS patients were more likely to have a history of or concurrent malignancy compared to women (30.0% versus 13.7%, p = 0.16) and double the mortality (OR = 2.1, 95% CI 0.09 to 1.4, p = 0.04), independent of malignancy. CONCLUSIONS: SS patients with serious ocular manifestations, particularly men, may be at greater risk for mortality due to SS complications. The eye seems to be the barometer of systemic disease activity.


Assuntos
Neoplasias da Mama/epidemiologia , Oftalmopatias/epidemiologia , Linfoma não Hodgkin/epidemiologia , Síndrome de Sjogren/complicações , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome de Sjogren/epidemiologia , Síndrome de Sjogren/mortalidade
18.
PLoS One ; 15(9): e0227783, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32925977

RESUMO

PURPOSE: To quantify differences in the age, gender, race, and clinical complexity of Medicare beneficiaries treated by ophthalmologists and optometrists in each of the United States. DESIGN: Cross-sectional study based on publicly accessible Medicare payment and utilization data from 2012 through 2017. METHODS: For each ophthalmic and optometric provider, demographic information of treated Medicare beneficiaries was obtained from the Medicare Provider Utilization and Payment Data from the Centers for Medicare and Medicaid Services (CMS) for the years 2012 through 2017. Clinical complexity was defined using CMS Hierarchical Condition Category (HCC) coding. RESULTS: From 2012 through 2017, ophthalmologists in every state treated statistically significantly older beneficiaries, with the greatest difference (4.99 years in 2014) between provider groups seen in Rhode Island. In most states there was no gender difference among patients treated by the providers but in 46 states ophthalmologists saw a more racially diverse group of beneficiaries. HCC risk score analysis demonstrated that ophthalmologists in all 50 states saw more medically complex beneficiaries and the differences were statistically significant in 47 states throughout all six years. CONCLUSIONS: Although there are regional variations in the characteristics of patients treated by ophthalmologists and optometrists, ophthalmologists throughout the United States manage older, more racially diverse, and more medically complex Medicare beneficiaries.


Assuntos
Oftalmopatias/terapia , Medicare/estatística & dados numéricos , Oftalmologia/estatística & dados numéricos , Optometria/estatística & dados numéricos , Demandas Administrativas em Assistência à Saúde/estatística & dados numéricos , Fatores Etários , Idoso , Grupos de Populações Continentais/estatística & dados numéricos , Estudos Transversais , Oftalmopatias/diagnóstico , Oftalmopatias/economia , Feminino , Humanos , Masculino , Medicare/economia , Oftalmologistas/economia , Oftalmologistas/estatística & dados numéricos , Oftalmologia/economia , Optometristas/economia , Optometristas/estatística & dados numéricos , Optometria/economia , Padrões de Prática Médica/economia , Fatores Sexuais , Estados Unidos
19.
Clin Dermatol ; 38(4): 455-461, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32972603

RESUMO

RASopathies are a group of disorders characterized by mutations in the RAS-MAPK pathway. RAS-MAP signaling plays a critical role in cell differentiation, proliferation, and survival. Germline mutations can result in distinctive syndromes, including Noonan syndrome, Costello syndrome, and neurofibromatosis type 1. Mosaic RASopathies can present as localized cutaneous lesions like epidermal nevi and nevus sebaceous, or more extensive conditions such as encephalocraniocutaneous lipomatosis. We review the heterogenous presentation of RAS mutations, discuss new targeted therapies, and highlight areas of uncertainty, including carcinogenesis risk and appropriate screening.


Assuntos
Síndrome de Costello/genética , Oftalmopatias/genética , Mutação em Linhagem Germinativa , Lipomatose/genética , Sistema de Sinalização das MAP Quinases/genética , Proteínas Monoméricas de Ligação ao GTP/genética , Síndromes Neurocutâneas/genética , Neurofibromatose 1/genética , Síndrome de Noonan/genética , Síndrome de Costello/diagnóstico , Síndrome de Costello/terapia , Oftalmopatias/diagnóstico por imagem , Oftalmopatias/terapia , Humanos , Lipomatose/diagnóstico por imagem , Lipomatose/terapia , Terapia de Alvo Molecular , Mutação , Síndromes Neurocutâneas/diagnóstico por imagem , Síndromes Neurocutâneas/terapia , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/terapia , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/terapia , Risco
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