RESUMO
PURPOSE: We present an unusual case of a congenital lesion presenting with concomitant chronic dacryocystitis. The clinical presentation, examination, management, and histopathology are reviewed. OBSERVATIONS: A healthy male infant born at 37 weeks gestation presented with an isolated painless 5mm congenital mass of the left medial lower eyelid. Parents also reported episodic epiphora and discharge from the left eye. A surgical excision of the mass revealed an underlying dacryocystitis and the presence of a formed tooth. A dacryocystorhinostomy was performed together with a repair of the soft tissue defect. Histopathology revealed components of disorganized epithelial and mesenchymal tissues including a tooth, skeletal muscle, fat, fibrous tissue, nonkeratinized epithelium, and myelinated nerves. A diagnosis of an odontogenic choristoma of the eyelid was made. Furthermore, a lacrimal sac culture was positive for oxacillin-susceptible Staphylococcus aureus with pathological evidence of chronic dacryocystitis. CONCLUSIONS AND IMPORTANCE: Odontogenic choristoma is a very rare finding in the periocular region with only a few cases reported in the literature. Awareness of clinical findings from this case may allow for a more accurate clinical diagnosis and understanding of the embryologic mechanisms underpinning eyelid and nasolacrimal development. Timely management of this condition is critical to ensure normal oculofacial development and prevent future complications.
RESUMO
PURPOSE: We report an update on a recently published case of uncontrolled hypertension secondary to immunoglobulin A (IgA) nephropathy resulting in massive bilateral retinal and choroidal infarction. OBSERVATIONS: In our previous report, we presented a 30-year old female with end-stage renal disease who complained of painless vision loss after many missed hemodialysis. The patient was found to be in hypertensive crisis resulting in massive retinal and choroidal infarction with severe vision loss in both eyes. The patient was treated with pan-retinal photocoagulation (PRP) with intravitreal Bevacizumab and was subsequently lost to follow-up. In this update, we report the complications that followed. After many months, she presented to clinic with a blind painful right eye. She was found to have a further decrease in vision with neovascular glaucoma in the right eye and a tractional retinal detachment in the left eye. The patient ultimately elected for enucleation of her right eye. Immunohistopathology revealed IgA deposition, confirming the presumed diagnosis of IgA nephropathy, previously unconfirmable through renal biopsy. CONCLUSIONS AND IMPORTANCE: There is a strong association between severity of retinopathy and level of kidney function. Although a rare presentation, hypertensive retinopathy is a common complication of end-stage renal disease and can be a devastating process as emphasized by this report. Those with auto-immune renal disease, such as IgA nephropathy, are at higher risk for retino-choroidal complications. It should remind all ophthalmologists and clinicians on the necessity of closer eye examinations for these patients, particularly for those with auto-immune renal disease.
RESUMO
PURPOSE OF REVIEW: In this review, we explore the change in what is required for outstanding and successful clinical practice and the challenges of putting our teams in positions to succeed. RECENT FINDINGS: We review the benefits of sleep in the training of physicians, acknowledge the science and practice of quality, safety, professionalism and communication in clinical practice. SUMMARY: The talented physician has more than scientific knowledge and technical expertise; they must incorporate a commitment to patient safety, personal and colleague well being and a culture that is built on values of professional behavior.
Assuntos
Cardiologia , Competência Clínica , Comunicação , Cardiologia/normas , Humanos , Segurança do PacienteRESUMO
The majority of ocular adnexal lymphomas are B-cell in origin. We report two cases of T-cell lymphoblastic lymphoma (T-LBL) involving the ocular adnexa. One patient presented with a painless pink conjunctival lesion and inferior orbital fullness. The second patient presented with a painless orbital mass. The diagnoses were confirmed by histopathology and immunohistochemistry. Both patients had extensive multifocal lesions during staging. Prompt intensified chemotherapy regimens were initiated. T-LBL is an aggressive disease with poor prognosis. This report emphasizes the importance of timely diagnosis by the ophthalmologist with co-management and treatment with an oncologist.
Assuntos
Neoplasias da Túnica Conjuntiva/patologia , Neoplasias Orbitárias/patologia , Leucemia-Linfoma Linfoblástico de Células T Precursoras/patologia , Adulto , Biomarcadores Tumorais/metabolismo , Biópsia , Neoplasias da Túnica Conjuntiva/diagnóstico por imagem , Neoplasias da Túnica Conjuntiva/metabolismo , Neoplasias da Túnica Conjuntiva/cirurgia , Humanos , Masculino , Proteínas de Neoplasias/metabolismo , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/metabolismo , Neoplasias Orbitárias/cirurgia , Leucemia-Linfoma Linfoblástico de Células T Precursoras/diagnóstico por imagem , Leucemia-Linfoma Linfoblástico de Células T Precursoras/metabolismo , Leucemia-Linfoma Linfoblástico de Células T Precursoras/cirurgia , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
PURPOSE: To describe an unusual case of Aicardi Syndrome that both affirms hallmark characteristics of the condition and introduces new observations. OBSERVATIONS: We report the case of a 20-year-old woman with Aicardi Syndrome who presented in respiratory distress with bradycardia and died soon thereafter. She had a history of severe mental retardation, seizure disorder, advanced scoliosis and numerous contractures in addition to congenital ocular malformations resulting in bilateral blindness. The case is notable for her age and longevity, as most patients with Aicardi Syndrome expire much younger, as well as the presence of intact nuclei under the posterior lens capsule. CONCLUSIONS AND IMPORTANCE: Aicardi Syndrome is a rare X-linked cerebro-retinal disorder typified by seizures, agenesis of the corpus callosum, and chorioretinal lacunae. Documenting alterations from and additions to this triad of symptoms is critical to better understanding both the syndrome itself, as well as the full breadth of its clinical impact on the patient.
RESUMO
Dacryoadenitis is unusual in children, and noninfectious causes can be manifestations of serious undiagnosed systemic conditions. This report brings further attention to this rarely-encountered condition and emphasizes its association with IgG4-related disease, a group of inflammatory disorders of high current interest whose spectrum of manifestations continues to evolve. The pediatric ophthalmologist could be in the position of identifying a patient's serious and previously unappreciated illness.
Assuntos
Abscesso/etiologia , Dacriocistite/etiologia , Infecções Oculares Bacterianas/etiologia , Doença Relacionada a Imunoglobulina G4/complicações , Doenças do Aparelho Lacrimal/etiologia , Pré-Escolar , Humanos , Masculino , Infecções Estafilocócicas/etiologia , Staphylococcus aureus/isolamento & purificaçãoRESUMO
A 53-year-old woman presented with an apocrine cystadenoma of the right upper eyelid. Histologic examination revealed proliferating epithelial cells with apocrine snouts and occasional mitotic figures. Immunohistochemical analysis revealed a Ki-67 index of 15% and positive staining for synaptophysin, chromogranin, estrogen receptor, progesterone receptor, gross cystic disease fluid protein (GCDFP)-15, and mammoglobin. The complement of positive immunomarkers in this case reinforces the importance of total excision and careful histologic assessment.
Assuntos
Biomarcadores Tumorais/análise , Cistadenoma/química , Neoplasias Palpebrais/química , Receptores de Estrogênio/análise , Receptores de Progesterona/análise , Feminino , Humanos , Imuno-Histoquímica , Pessoa de Meia-IdadeRESUMO
IMPORTANCE: Our experience may be useful to other practitioners using compounded intravitreal agents, those suspecting infectious outbreaks, and those managing fungal endophthalmitis. OBJECTIVE: To describe a series of patients with fungal endophthalmitis following intravitreal injection of combined bevacizumab and triamcinolone acetonide prepared by the same compounding pharmacy. DESIGN AND SETTING: Noncomparative case series. PARTICIPANTS: Eight eyes of 8 patients who received an intravitreal injection of compounded combined bevacizumab-triamcinolone in a period of 3 weeks had subtle, nonspecific findings that were later diagnosed as fungal endophthalmitis. MAIN OUTCOME MEASURES: Visual acuity, response to antimicrobial therapy, and number of vitreoretinal surgical operations after diagnosis of fungal endophthalmitis. RESULTS: Eight patients developed endophthalmitis 41 to 97 days after receiving the intravitreal injection, which was prepared by the same compounding pharmacy. The injections occurred at the same location in New York. Treatment was based on clinical examination findings and knowledge of the etiology of the endophthalmitis. Eventually, all patients were treated with oral voriconazole. Five of 8 patients were initially treated with intravitreal antimicrobial agents. After 3 months of follow-up, visual acuities ranged from 20/50 to hand motions. Local, state, and federal health department officials were involved in investigating the source of the outbreak. CONCLUSIONS AND RELEVANCE: In the current study, we report a fungal endophthalmitis outbreak after intravitreal injection of contaminated, compounded combined bevacizumab-triamcinolone. In this series, Bipolaris hawaiiensis was the identified causative agent. The challenge of medical diagnosis, identification of the source of the outbreak, and management experience are highlighted in our series. Our experience may be useful to other practitioners using compounded intravitreal agents, those suspecting infectious outbreaks, and those managing fungal endophthalmitis.
Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Ascomicetos/isolamento & purificação , Surtos de Doenças , Contaminação de Medicamentos , Endoftalmite/epidemiologia , Infecções Oculares Fúngicas/epidemiologia , Micoses/epidemiologia , Triancinolona Acetonida/uso terapêutico , Idoso , Inibidores da Angiogênese/administração & dosagem , Inibidores da Angiogênese/uso terapêutico , Antibacterianos/uso terapêutico , Anticorpos Monoclonais Humanizados/administração & dosagem , Bevacizumab , Terapia Combinada , Composição de Medicamentos , Quimioterapia Combinada , Endoftalmite/microbiologia , Endoftalmite/terapia , Infecções Oculares Fúngicas/microbiologia , Infecções Oculares Fúngicas/terapia , Feminino , Glucocorticoides/administração & dosagem , Glucocorticoides/uso terapêutico , Humanos , Injeções Intravítreas , Edema Macular/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Micoses/microbiologia , Micoses/terapia , New York/epidemiologia , Triancinolona Acetonida/administração & dosagem , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade Visual/fisiologia , Vitrectomia , Corpo Vítreo/microbiologiaRESUMO
OBJECTIVE: To understand the role of the α(1A)-adrenoreceptors (ARs) in the pathophysiologic mechanism of intraoperative floppy iris syndrome (IFIS). METHODS: Iris specimens from a patient with tamsulosin hydrochloride-induced IFIS were obtained during trabeculectomy. Specimens underwent histological analysis and immunohistochemical analysis with antibodies specific for actin, myoglobin, α(1A)-ARs, and myosin. Iris specimens from a patient without IFIS were used for comparison. Samples were processed for transmission electron microscopy. RESULTS: Histological examination showed normal dilator muscle, arterioles, stroma, and pigment epithelium. Actin, myosin, and myoglobin distribution and intensities were similar between IFIS and non-IFIS tissue. The staining pattern and colocalization with myosin suggested that α(1A)-ARs are present in iris arteriolar muscularis in addition to the dilator muscle in both IFIS and control irides. Significantly less staining of IFIS tissue was found compared with the non-IFIS iris. Ultrastructures of melanocytes and stroma appeared to be normal. Iris arterioles possessed thick endothelial basement membranes, semilongitudinally oriented muscularis, and abundant perivascular collagen coats. CONCLUSIONS: We confirm the presence of α(1A)-ARs in human iris by results of immunohistochemical analysis. The α(1A)-ARs localize to iris arteriolar muscularis in addition to the iris dilator muscle. This localization suggests that IFIS may develop because of iris vascular dysfunction and that iris vasculature may have structural in addition to nutritive functions.
Assuntos
Antagonistas de Receptores Adrenérgicos alfa 1/efeitos adversos , Complicações Intraoperatórias , Doenças da Íris/induzido quimicamente , Doenças da Íris/patologia , Iris/efeitos dos fármacos , Sulfonamidas/efeitos adversos , Trabeculectomia , Actinas/metabolismo , Idoso de 80 Anos ou mais , Humanos , Iris/metabolismo , Iris/patologia , Doenças da Íris/metabolismo , Masculino , Microscopia Eletrônica de Transmissão , Mioglobina/metabolismo , Miosinas/metabolismo , Receptores Adrenérgicos alfa 1/metabolismo , Síndrome , TansulosinaRESUMO
OBJECTIVE: We investigated the prenatal prevalence of congenital heart defects (CHDs) among in vitro fertilization (IVF) pregnancies at a referral program in the United States. METHODS: Study patients were referred for fetal echocardiography between April 1, 2006, and May 1, 2009, due to IVF. An IVF pregnancy was defined as a patient who conceived with IVF with or without intracytoplasmic sperm injection. Congenital heart defect odds relative to historical data were calculated by standard methods. P < .05 was considered statistically significant. RESULTS: During the study period, we performed fetal echocardiography on 749 consecutive IVF pregnancies. Overall, the frequency of CHDs was 1.1% (95% confidence interval, 0.3%-1.8%) per pregnancy. Compared to earlier historical population data, IVF pregnancies had a significantly higher risk of CHDs (odds ratios, 7.3 [3.6-14.7] and 2.9 [1.4-5.9], respectively). However, compared to more contemporary population data, there was no difference in the CHD risk between IVF gestations and naturally conceived pregnancies. Further analysis indicated that IVF twin pregnancies were as much as 12.5 (4.6-33.5) times as likely to have CHDs compared to a general population. CONCLUSIONS: In this study population, the frequency of CHDs in IVF pregnancies was higher than early historical population data; however, it was similar to that of a more contemporary general population. Further analysis showed that this increase was mainly driven by IVF twin gestations. Previous reports of increased CHD risk in pregnancies conceived via IVF may have been due, in part, to an increased frequency of higher-order pregnancies seen among these patients.
Assuntos
Ecocardiografia/métodos , Fertilização in vitro , Cardiopatias Congênitas/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Estudos de Casos e Controles , Doenças em Gêmeos/diagnóstico por imagem , Doenças em Gêmeos/epidemiologia , Feminino , Cardiopatias Congênitas/epidemiologia , Humanos , Gravidez , Resultado da Gravidez , Gravidez Múltipla , Prevalência , Fatores de Risco , Estados Unidos/epidemiologiaAssuntos
Antagonistas de Receptores Adrenérgicos alfa 1 , Antagonistas Adrenérgicos alfa/efeitos adversos , Extração de Catarata , Complicações Intraoperatórias , Doenças da Íris/induzido quimicamente , Hiperplasia Prostática/tratamento farmacológico , Sulfonamidas/efeitos adversos , Estudos de Casos e Controles , Humanos , Masculino , Síndrome , TansulosinaAssuntos
Antagonistas de Receptores Adrenérgicos alfa 1 , Antagonistas Adrenérgicos alfa , Extração de Catarata , Doenças da Íris/etiologia , Complicações Pós-Operatórias , Sulfonamidas , Antagonistas Adrenérgicos alfa/efeitos adversos , Antagonistas Adrenérgicos alfa/uso terapêutico , Idoso , Extração de Catarata/efeitos adversos , Contraindicações , Humanos , Complicações Intraoperatórias , Iris/irrigação sanguínea , Iris/metabolismo , Masculino , Hiperplasia Prostática/tratamento farmacológico , Receptores Adrenérgicos alfa 1/metabolismo , Sulfonamidas/efeitos adversos , Sulfonamidas/uso terapêutico , TansulosinaRESUMO
OBJECTIVE: Counseling patients with an isolated ventricular septal defect (i-VSD) is clinically important because with high-resolution ultrasound equipment, more small muscular VSDs are now being diagnosed. The prevalence of these lesions is not yet completely described, and the frequency with which muscular VSDs resolve in utero has also not been extensively reported. METHODS: We investigated the perinatal course of isolated muscular VSDs diagnosed only on color Doppler examinations and followed between January 1, 2005, and December 31, 2006. A complete evaluation of the fetal heart was performed by gray scale, spectral Doppler, and color Doppler examinations. RESULTS: We performed a total of 2583 fetal echocardiographic examinations on 2410 fetuses during 2318 pregnancies. The study group included 78 twin gestations (3.4%) and 7 triplet gestations (0.3%). There were 16 fetuses with an i-VSD (6.6/1000 fetuses) within the study group. The mean gestational age +/- SD at diagnosis was 23.5 +/- 4.3 weeks. Two of the i-VSDs (12.5%) spontaneously resolved prenatally. One fetus with an i-VSD had trisomy 21 and also had increased nuchal translucency in the first trimester. One i-VSD was diagnosed among 22 fetuses with trisomy 21 examined during the study period. CONCLUSIONS: An i-VSD is a common congenital heart defect. Prenatal resolution of i-VSDs is less frequent than reported in the literature. A larger cohort is needed to provide a better risk estimate for aneuploidy in the presence of an i-VSD.
Assuntos
Doenças Fetais/diagnóstico por imagem , Coração Fetal/diagnóstico por imagem , Comunicação Interventricular/diagnóstico por imagem , Ultrassonografia Doppler em Cores , Ultrassonografia Pré-Natal , Estudos de Coortes , Síndrome de Down/diagnóstico por imagem , Ecocardiografia , Feminino , Desenvolvimento Fetal/fisiologia , Coração Fetal/patologia , Seguimentos , Idade Gestacional , Humanos , Recém-Nascido , Medição da Translucência Nucal , Gravidez , Resultado da Gravidez , Estudos Prospectivos , Medição de Risco , Trigêmeos , GêmeosRESUMO
OBJECTIVE: Congenital heart defects (CHDs) affect approximately 0.5% of all neonates. Recent literature points to a possible increase in the CHD prevalence among monochorionic/diamniotic (MC/DA) twin gestations. We hypothesized that MC/DA twin pregnancy is a risk factor for CHD. METHODS: A systematic review of all published English literature was conducted on MEDLINE (Ovid and PubMed) from January 2000 through April 2007 using the medical subject heading terms "congenital heart defect" and "monozygotic twins." Four observational studies were included in the final analysis. Published historical data were used for the population background risk of CHD. Relative risk (RR) estimates with 95% confidence intervals (CIs) were calculated by fixed and random effect models. RESULTS: We included a total of 40 fetuses with CHDs among 830 fetuses from MC/DA twin gestations. Compared with the population, CHDs were significantly more prevalent in MC/DA twins regardless of the presence of twin-twin transfusion syndrome (TTTS) (RR, 9.18; 95% CI, 5.51-15.29; P < .001). Monochorionic/diamniotic twin gestations affected by TTTS were more likely to be complicated by CHDs than those that did not have TTTS (RR, 2.78; 95% CI, 1.03-7.52; P = .04). Ventricular septal defects were the most frequent heart defects. Pulmonary stenosis and atrial septal defects were significantly more prevalent in pregnancies complicated with TTTS. CONCLUSIONS: Monochorionic/diamniotic twin gestation appears to be a risk factor for CHDs. Conditions that lead to abnormal placentation may also contribute to abnormal heart development, especially in MC/DA twin pregnancies complicated with TTTS. Fetal echocardiography may be considered for all MC/DA twin gestations because ventricular septal defects and pulmonary stenosis are the most common defects.
Assuntos
Doenças em Gêmeos/epidemiologia , Cardiopatias Congênitas/epidemiologia , Gravidez/estatística & dados numéricos , Medição de Risco/métodos , Gêmeos Dizigóticos , Gêmeos Monozigóticos , Feminino , Humanos , Internacionalidade , Prevalência , Fatores de RiscoRESUMO
BACKGROUND: Since the initial utilization of heart transplantation as therapy for end-stage pediatric heart disease, improvements have occurred in outcomes with heart transplantation and surgical therapies for congenital heart disease along with the application of medical therapies to pediatric heart failure that have improved outcomes in adults. These events justify a reevaluation of the indications for heart transplantation in congenital heart disease and other causes of pediatric heart failure. METHODS AND RESULTS: A working group was commissioned to review accumulated experience with pediatric heart transplantation and its use in patients with unrepaired and/or previously repaired or palliated congenital heart disease (children and adults), in patients with pediatric cardiomyopathies, and in pediatric patients with prior heart transplantation. Evidence-based guidelines for the indications for heart transplantation or retransplantation for these conditions were developed. CONCLUSIONS: This evaluation has led to the development and refinement of indications for heart transplantation for patients with congenital heart disease and pediatric cardiomyopathies in addition to indications for pediatric heart retransplantation.
Assuntos
American Heart Association , Cardiopatias/cirurgia , Transplante de Coração , Enfermagem , Avaliação de Resultados em Cuidados de Saúde , Fatores Etários , Cardiologia/métodos , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/cirurgia , Procedimentos Cirúrgicos Cardiovasculares , Criança , Diretrizes para o Planejamento em Saúde , Cardiopatias/epidemiologia , Humanos , Estados UnidosRESUMO
The coronary arteries, the vessels through which both substrate and oxygen are provided to the cardiac muscle, normally arise from paired stems, right and left, each arising from a separate and distinct sinus of the aortic valve. The right coronary artery runs through the right atrioventricular groove, terminating in the majority of instances in the inferior interventricular groove. The main stem of the left coronary artery bifurcates into the anterior descending, or interventricular, and the circumflex branches. Origin of the anterior descending and circumflex arteries from separate orifices from the left sinus of Valsalva occurs in about 1% of the population, while it is also frequent to find the infundibular artery arising as a separate branch from the right sinus of Valsalva. Anomalies of the coronary arteries can result from rudimentary persistence of an embryologic coronary arterial structure, failure of normal development or normal atrophy as part of development, or misplacement of connection of a an otherwise normal coronary artery. Anomalies, therefore, can be summarized in terms of abnormal origin or course, abnormal number of coronary arteries, lack of patency of the orifice of coronary artery, or abnormal connections of the arteries. Anomalous origin of the left coronary artery from the pulmonary trunk occurs with an incidence of approximately 1 in 300,000 children. The degree of left ventricular dysfunction produced likely relates to the development of collateral vessels that arise from the right coronary artery, and provide flow into the left system. Anomalous origin of either the right or the left coronary artery from the opposite sinus of Valsalva can be relatively innocuous, but if the anomalous artery takes an interarterial course between the pulmonary trunk and the aorta, this can underlie sudden death, almost invariably during or immediately following strenuous exercise or competitive sporting events. Distal anomalies of the coronary arteries most commonly involve abnormal connections, or fistulas, between the right or left coronary arterial systems and a chamber or vessel. We discuss the current techniques available for imaging these various lesions, along with their functional assessment, concluding with a summary of current strategies for management.
Assuntos
Circulação Coronária/fisiologia , Anomalias dos Vasos Coronários , Diagnóstico por Imagem/métodos , Atividade Motora/fisiologia , Procedimentos Cirúrgicos Vasculares/métodos , Criança , Anomalias dos Vasos Coronários/diagnóstico , Anomalias dos Vasos Coronários/fisiopatologia , Anomalias dos Vasos Coronários/cirurgia , Eletrocardiografia , Humanos , PrognósticoRESUMO
Working with young pediatricians to create an exciting educational environment in which to learn cardiology remains a challenge for all of us. Numerous forces impact our efforts, making the process of training residents to evaluate and treat congenital heart disease in the current era a dynamic and, at times, difficult endeavor. This article considers the changes that have occurred in the medical school graduate who chooses pediatrics and subsequently pediatric cardiology as a career; explores the changes in the graduate medical training guidelines, requirements, and restrictions that have been put into place within the last several years; and discusses the seemingly constant advances in scientific understanding and technology that shape our field and move us forward as a discipline.