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1.
J Clin Gastroenterol ; 51(7): 626-631, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27811627

RESUMO

GOALS: To evaluate provider knowledge, attitudes and barriers to hepatitis B virus (HBV) care and management practices across diverse primary care settings. BACKGROUND: Factors influencing adherence to recommended HBV screening and management guidelines are poorly defined. MATERIALS AND METHODS: Providers across various health care settings in San Francisco were surveyed. Multivariate analyses were used to identify factors associated with recommended HBV screening, vaccination, and disease monitoring. RESULTS: Of 277 (41.3%) responding providers, 42% reported performing HBV screening in >50% of at-risk patients, and 49%, HBV vaccination in >50% of eligible patients. Most reported appropriate monitoring of a majority of HBV-infected patients with alanine aminotransferase (79%) and HBV viral load (67%) every 6 to 12 months, but performed any hepatocellular carcinoma screening in 49%. Provider factors significantly associated with HBV screening were speaking an Asian language [odds ratio (OR), 3.27], offering HBV treatment (OR, 3.00), having >25% of Asian patients in practice (OR, 2.10), practicing in safety net settings (OR, 7.51) and having higher barrier score (OR, 0.74). Appropriate HBV monitoring was associated with provider speaking an Asian language (OR, 3.43) and provider age (OR, 0.68/decade). Hepatocellular carcinoma screening was associated with having >25% of patients speaking English as a second language (OR, 4.26) and practicing in safety net settings (OR, 0.14). CONCLUSIONS: Rates of adherence to HBV guidelines were suboptimal irrespective of practice setting and were influenced by certain provider, patient and practice factors. This study reinforces the importance of engaging primary care providers in development, dissemination, and implementation of evidence-based HBV practice guidelines.


Assuntos
Atitude do Pessoal de Saúde , Competência Clínica/estatística & dados numéricos , Fidelidade a Diretrizes/estatística & dados numéricos , Hepatite B/diagnóstico , Hepatite B/terapia , Padrões de Prática Médica/estatística & dados numéricos , Atenção Primária à Saúde/estatística & dados numéricos , Adulto , Idoso , Feminino , Pesquisas sobre Atenção à Saúde , Humanos , Masculino , Programas de Rastreamento/estatística & dados numéricos , Pessoa de Meia-Idade , Guias de Prática Clínica como Assunto , Atenção Primária à Saúde/métodos , Vigilância em Saúde Pública , São Francisco
2.
Head Neck Pathol ; 17(1): 165-171, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36166160

RESUMO

BACKGROUND: Solitary fibrous tumor can exhibit a broad morphologic spectrum, such as presence of epithelioid tumor cells, adipose cells and multinucleated giant cells. This report describes an unusual morphologic variant characterized by adenofibromatous features, all occurring in the sinonasal region. METHODS: Four cases of the adenofibromatous variant of solitary fibrous tumor were retrieved from the surgical pathology and consultation files in Queen Elizabeth Hospital, Hong Kong. Histologic examination, immunohistochemical study and reverse-transcription polymerase chain reaction (RT-PCR) were performed. RESULTS: The patients were adults who presented with an obstructive mass of the nasal septum, nasal cavity or nasolacrimal sac. Histologic examination showed a circumscribed biphasic tumor with intermingling of glandular structures and spindle cells, reminiscent of mammary fibroadenoma. Bland-looking spindle cells formed short, irregularly oriented fascicles, admixed with variable amount of collagen fibers. The glandular component comprised ducts and seromucinous acini with a lobular architecture, indicating that it represented exuberant hyperplasia of indigenous glands rather than part of the neoplastic process. Demonstration of CD34 and STAT6 immunoreactivity in the spindle cells and NAB2::STAT6 gene fusion by polymerase chain reaction supports the diagnosis of solitary fibrous tumor. CONCLUSION: This study reports four cases of sinonasal solitary fibrous tumor with adenofibromatous features, furthermore expanding the morphologic spectrum of this tumor.


Assuntos
Neoplasias de Cabeça e Pescoço , Hemangiopericitoma , Seios Paranasais , Tumores Fibrosos Solitários , Adulto , Humanos , Hemangiopericitoma/genética , Tumores Fibrosos Solitários/genética , Tumores Fibrosos Solitários/patologia , Fusão Gênica , Seios Paranasais/patologia , Biomarcadores Tumorais/análise
3.
Hong Kong Med J ; 17(5): 410-3, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21979481

RESUMO

We report on an adult patient with citrin deficiency in Hong Kong, in whom a novel mutation was identified. The patient presented with recurrent hyperammonaemic encephalopathy due to impairment of the liver urea cycle enzyme argininosuccinate synthetase. This autosomal recessive condition is also characterised by interesting food preferences, notably aversion to carbohydrates and craving for protein-rich and/or lipid-rich foods, as well as neuropsychiatric symptoms. Plasma amino acid analysis is very useful in revealing urea cycle disorders, and mutational analysis of the SLC25A13 gene can confirm the diagnosis.


Assuntos
Encefalopatias Metabólicas Congênitas/genética , Proteínas de Ligação ao Cálcio/deficiência , Hiperamonemia/etiologia , Proteínas de Transporte da Membrana Mitocondrial/genética , Transportadores de Ânions Orgânicos/deficiência , Adulto , Proteínas de Ligação ao Cálcio/genética , Citrulinemia/complicações , Confusão/etiologia , Dieta , Humanos , Masculino , Mutação , Transportadores de Ânions Orgânicos/genética
4.
Hong Kong Med J ; 15(6): 474-7, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19966354

RESUMO

Pompe disease (acid maltase deficiency, glycogen storage disease type II) is a rare progressive autosomal recessive disorder caused by a deficiency of lysosomal hydrolase acid alpha-glucosidase. Historically, infantile-onset Pompe disease presents with cardiomegaly, hepatomegaly, weakness and hypotonia leading to death caused by cardiorespiratory failure in the first year of life. Enzyme replacement therapy has recently become available and has been shown to be effective in prolonging survival and improving respiratory performance. In this article, we report a case of infantile-onset Pompe disease successfully managed with enzyme replacement therapy during the critical period. We would like to highlight the occurrence of sudden cardiac arrest in our patient during the early course of enzyme replacement therapy, which has not been reported before. A novel mutation was also identified in the family.


Assuntos
Terapia de Reposição de Enzimas , Doença de Depósito de Glicogênio Tipo II/tratamento farmacológico , Doença de Depósito de Glicogênio Tipo II/genética , Mutação , alfa-Glucosidases/genética , alfa-Glucosidases/uso terapêutico , Cardiomiopatia Hipertrófica/tratamento farmacológico , Humanos , Lactente , Masculino
5.
Hong Kong Med J ; 15(1): 57-60, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19197098

RESUMO

Lipoprotein glomerulopathy is a rare kidney disease in which lipoprotein thrombi are seen in the glomerular capillaries. Most of these patients are found in Japan and East Asian countries. The presenting symptoms include proteinuria, an abnormal plasma lipoprotein profile that resembles type III hyperlipoproteinaemia, and a marked increase in serum apolipoprotein E concentration. Previous studies have suggested that lipoprotein glomerulopathy might be related to APOE gene mutation. No effective therapeutic regimen has been established for lipoprotein glomerulopathy. We report the first case of biopsy-proven lipoprotein glomerulopathy in Hong Kong in a patient who presented with nephrotic syndrome and dyslipidaemia. DNA analysis revealed apolipoprotein E Kyoto together with a novel apolipoprotein E mutation, apolipoprotein E (Asp230Tyr) Hong Kong. There was significant improvement in the clinical parameters and resolution of symptoms after the introduction of statins. Further studies will be needed to clarify the role of apolipoprotein E Hong Kong and its interaction with apolipoprotein E Kyoto in the pathogenesis of lipoprotein glomerulopathy.


Assuntos
Apolipoproteínas E/sangue , Apolipoproteínas E/genética , Nefrose Lipoide/diagnóstico , Nefrose Lipoide/genética , Adulto , Análise Mutacional de DNA , Glomerulonefrite/diagnóstico , Glomerulonefrite/tratamento farmacológico , Hong Kong , Humanos , Hipolipemiantes/administração & dosagem , Lipoproteínas/sangue , Masculino , Mutação , Nefrose Lipoide/tratamento farmacológico , Síndrome Nefrótica , Reação em Cadeia da Polimerase , Proteinúria , Sinvastatina/administração & dosagem
6.
Hong Kong Med J ; 15(2): 130-5, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19342739

RESUMO

5Alpha-reductase 2 deficiency is an autosomal recessive disorder characterised by lack of masculinisation in XY individuals due to failure to convert testosterone to dihydrotestosterone, the bioactive androgen. Traditionally, the testosterone-to-dihydrotestosterone ratio is used to diagnose this condition but interpreting these results is not always straightforward, thus they may be inconclusive. On the contrary, urinary steroid profiling unambiguously demonstrates a significantly reduced excretion of 5alpha-reduced steroid metabolites compared to their 5beta counterparts. This analytical technique can also simultaneously confirm or rule out other causes of ambiguous genitalia due to steroidogenic defects. Making a DNA-based diagnosis by studying the SRD5A2 gene has become increasingly popular. Here, we report six Chinese patients from different families who were all diagnosed with 5alpha-reductase 2 deficiency based on urinary steroid profile findings and mutational analysis of the SRD5A2 gene. R227Q was the most commonly identified mutation in these patients. Management of sexual development disorders is also discussed.


Assuntos
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/deficiência , Transtornos do Desenvolvimento Sexual/diagnóstico , Esteroides/urina , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética , Adolescente , Adulto , Pré-Escolar , Cromossomos Humanos X , Cromossomos Humanos Y , Análise Mutacional de DNA , Feminino , Genitália/anormalidades , Humanos , Masculino , Mutação
7.
Int J Surg Pathol ; 27(5): 561-567, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30714449

RESUMO

Ewing sarcomas are typified by EWSR1 fusion to ETS gene family members. Tumors with fusion partners other than ETS family members and atypical histologic features pose significant diagnostic challenges and controversies as to their classification. In this article, we report a tumor with EWSR1-NFATC2 fusion in the left femur of a 43-year-old man and with unusual morphologic features that resemble undifferentiated high-grade sarcoma. Analysis together with reported cases in the literature shows that tumors with EWSR1-NFATC2 exhibit distinctive clinicopathologic features, including predilection for young male adults, highly variable histology that varies from round cell tumors frequently associated with nuclear irregularity, short spindle cells with nuclear pleomorphism, to myoepithelial tumor-like with or without myxohyaline matrix. They show variable positivity to CD99, frequent expression of cytokeratins, and consistent high-level amplification of EWSR1-NFATC2 fusion gene with distinctive gene expression profile. These tumors thus deserve classification separate from Ewing sarcoma.


Assuntos
Neoplasias Ósseas/diagnóstico , Fêmur/patologia , Proteínas de Fusão Oncogênica/genética , Osteossarcoma/diagnóstico , Sarcoma de Ewing/diagnóstico , Antígeno 12E7/metabolismo , Adulto , Amputação Cirúrgica , Biópsia , Neoplasias Ósseas/genética , Neoplasias Ósseas/terapia , Quimioterapia Adjuvante , Diagnóstico Diferencial , Fêmur/cirurgia , Amplificação de Genes , Humanos , Masculino , Metotrexato/uso terapêutico , Osteossarcoma/genética , Osteossarcoma/terapia , Sarcoma de Ewing/genética , Sarcoma de Ewing/patologia , Resultado do Tratamento
8.
Clin Chim Acta ; 368(1-2): 120-4, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16460718

RESUMO

BACKGROUND: Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder characterized by hypertriglyceridemia. The genetic defect lies in a mutation of the LPL gene. METHODS: A Chinese neonate with non-consanguineous parents was incidentally found to have hypertriglyceridemia. Mutation in her LPL gene was screened by using polymerase chain reaction and direct DNA sequencing. RESULTS: Homozygous missense mutations (L252V) were detected in the LPL gene of the patient. A novel nonsense mutation (C27X) was also identified. CONCLUSION: Our finding supports L252V mutation in the LPL gene is a common mutation in Chinese with familial hyperchylomicronemia syndrome. DNA-based diagnosis in this syndrome is definitive. It saves the need for heparin-infusion test, which carries the risk of hemorrhage, and the measurement of LPL activity, which is tedious and is not widely available.


Assuntos
Códon sem Sentido/genética , Hipertrigliceridemia/congênito , Hipertrigliceridemia/genética , Lipase Lipoproteica/genética , Povo Asiático , Sequência de Bases , Cisteína/genética , Feminino , Genótipo , Humanos , Recém-Nascido , Leucina/genética , Metabolismo dos Lipídeos , Masculino , Linhagem
9.
Bone ; 85: 142-7, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26769007

RESUMO

PURPOSE: Several epidemiologic studies suggest that compared to white women, Asians have a greater propensity to suffer an atypical femur fracture (AFF) while taking bisphosphonate therapy. This study examines the relative risk of AFF following bisphosphonate initiation for Asian compared to white women. METHODS: Using data from a large integrated northern California healthcare delivery system, we examined diaphyseal femur fracture outcomes among women age≥50years old who initiated oral bisphosphonate therapy during 2002-2007. An AFF was defined by the 2013 American Society of Bone and Mineral Research Task Force criteria. The risk of radiographically-confirmed AFF was examined for Asian compared to white women, adjusting for differences in bisphosphonate exposure and other potential risk factors. RESULTS: Among 48,390 women (65.3% white, 17.1% Asian) who newly initiated bisphosphonate therapy and were followed for a median of 7.7years, 68 women experienced an AFF. The rate of AFF was 18.7 per 100,000 person-years overall and eight-fold higher among Asian compared to white women (64.2 versus 7.6 per 100,000 person-years). Asians were also more likely to have longer bisphosphonate treatment duration compared to whites (median 3.8 versus 2.7years). The age-adjusted relative hazard for AFF was 8.5 (95% confidence interval 4.9-14.9) comparing Asian to white women, and was only modestly reduced to 6.6 (3.7-11.5) after adjusting for bisphosphonate duration and current use. CONCLUSIONS: Our study confirms marked racial disparity in AFF risk that should be further investigated, particularly the mechanisms accounting for this difference. These findings also underscore the need to further examine the association of bisphosphonate duration and AFF in women of Asian race, as well as differential risk across Asian subgroups. In the interim, counseling of Asian women about osteoporosis drug continuation should include consideration of their potentially higher AFF risk.


Assuntos
Difosfonatos/administração & dosagem , Difosfonatos/efeitos adversos , Etnicidade , Fraturas do Fêmur/induzido quimicamente , Fraturas do Fêmur/epidemiologia , Grupos Raciais , Administração Oral , Idoso , Feminino , Humanos , Incidência , Pessoa de Meia-Idade , Fatores de Risco
10.
Am J Surg Pathol ; 29(6): 832-6, 2005 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15897752

RESUMO

Primary non-Hodgkin lymphoma arising at the site of metallic implant is very rare, and the possible carcinogenic effects of the metallic components and wear particles of the implant have not been answered despite many years of investigation. We report a case of large B-cell lymphoma occurring in a 78-year-old man who had a knee prosthesis implant for more than 30 years. The lymphoma was of microscopic size and found incidentally in the wear debris removed at surgical revision of the loosened prosthesis. The lymphoma expressed CD20, showed clonal rearrangements of immunoglobulin gene, and harbored Epstein-Barr virus (EBV). This case, together with previously reported cases, suggests that metallic implant-associated lymphoma is a distinctive subgroup of large B-cell lymphoma that shares many similarities with pyothorax-associated lymphoma and osteomyelitis-associated lymphoma, in that the lymphoma is an EBV-associated large B-cell lymphoma arising in a setting of chronic inflammation or irritation in a confined body space.


Assuntos
Prótese do Joelho/efeitos adversos , Linfoma de Células B/patologia , Linfoma/patologia , Artrite Infecciosa/cirurgia , Artroplastia do Joelho/efeitos adversos , Artroplastia do Joelho/instrumentação , Materiais Biocompatíveis/efeitos adversos , Humanos , Linfoma/etiologia , Linfoma de Células B/etiologia , Masculino , Metais/efeitos adversos , Pessoa de Meia-Idade , Falha de Prótese , Reoperação
11.
Am J Manag Care ; 21(3): e206-14, 2015 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-26014308

RESUMO

OBJECTIVES: To examine contemporary trends in mortality following hip fracture among older postmenopausal women in an integrated healthcare delivery system. STUDY DESIGN: Retrospective cohort study of 13,550 women aged ≥65 years with hip fracture during 2000 to 2010. METHODS: Demographic factors, comorbidity index score, fracture history, early rehospitalization, and all-cause mortality within 1 year following hip fracture were examined using health plan databases and records. Temporal trends, risk factors, and the association of race/ethnicity and mortality within 1 year post fracture were examined using multivariable logistic regression. RESULTS: Among 13,550 women with hip fracture, 84.6% were aged ≥75 years: 83.6% were white, 2.8% black, 5.6% Hispanic, 4.5% Asian, and 3.5% of other/unknown race. Following hip fracture, 2.4% died during the index hospitalization, while 12.3% were rehospitalized within 30 days of discharge. Infection, pneumonia, and cardiovascular conditions were the most common nonorthopedic indications for readmission. Mortality rates at 6 months (17%) and 1 year (22.8%) following hip fracture were high and increased with age. Greater comorbidity and early rehospitalization were associated with increased mortality risk, while Asian and Hispanic race/ethnicity were associated with lower mortality risk (vs white). Temporal trends demonstrated a small but significant reduction in mortality risk during 2004 to 2010. CONCLUSIONS: While hip fracture morbidity and mortality remain high, temporal trends suggest recent declines in mortality risk, with risk of death following hip fracture lower for Asian and Hispanic women. Future studies should examine potential benefits of targeted interventions within integrated healthcare settings and factors contributing to observed racial/ethnic differences in post fracture survival.


Assuntos
Fraturas do Quadril/mortalidade , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , California/epidemiologia , Estudos de Coortes , Comorbidade , Feminino , Hospitalização , Humanos , Readmissão do Paciente/estatística & dados numéricos , Grupos Raciais , Estudos Retrospectivos
12.
Hum Pathol ; 35(6): 685-8, 2004 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15188134

RESUMO

Gliomatosis peritonei, a rare condition that occurs almost exclusively in the setting of ovarian immature teratoma, is characterized by the occurrence of nodules of mature glial tissues in the peritoneum. It is controversial whether glial tissues are derived from maturation of the associated teratomatous tissue that has implanted in the peritoneum, or glial differentiation of subperitoneal stem cells. In this study, we employed the unique genetic characteristics of ovarian teratomas (often with a duplicated set of maternal chromosomes and thus homozygous at many polymorphic microsatellite loci) versus normal tissues (heterozygous pattern due to presence of maternal and paternal genetic materials) to investigate the origin of gliomatosis peritonei. DNA samples were extracted from microdissected paraffin-embedded tissues, including the glial implants, the associated ovarian teratomas, and normal tissues, to determine their patterns of microsatellite loci in a multiplex polymerase chain reaction system. Two cases were not informative because the ovarian teratoma showed a heterozygous microsatellite pattern. In the 5 informative cases, the normal tissues showed a heterozygous pattern in the microsatellite loci, the associated teratomas showed a homozygous pattern, and the glial tissues showed a heterozygous pattern. Thus, gliomatosis peritonei is genetically unrelated to the associated teratoma but is probably derived from nonteratomatous cells, such as through metaplasia of submesothelial cells.


Assuntos
Neoplasias Primárias Múltiplas/patologia , Neoplasias Ovarianas/patologia , Neoplasias Peritoneais/patologia , Teratoma/patologia , Feminino , Humanos , Repetições de Microssatélites , Neoplasias Primárias Múltiplas/genética , Neoplasias Ovarianas/genética , Neoplasias Peritoneais/genética , Reação em Cadeia da Polimerase , Teratoma/genética
13.
Am J Surg Pathol ; 37(5): 734-8, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23588368

RESUMO

Low-grade fibromyxoid sarcoma (LGFMS) is an uncommon sarcoma with a deceptively bland-looking morphology that disguises its malignant clinical behavior. It shows distinctive chromosomal translocations resulting in fusion of FUS with the CREB3L2 gene in most cases and CREB3L1 in rare cases. Thus molecular studies are particularly helpful in the diagnosis of this bland-looking sarcoma. We report 2 cases of LGFMS serendipitously found to harbor a novel alternative EWSR1-CREB3L1 gene fusion, as confirmed by DNA sequencing of reverse transcriptase-polymerase chain reaction products and fluorescence in situ hybridization. One patient was a child who presented with a subcutaneous nodule on the lower leg, and the other was a middle-aged woman who had a mass lesion over the proximal thigh. Morphologically, one case showed a spindle cell tumor with hyalinization and giant rosettes, whereas the other showed classical histology of LGFMS with focal metaplastic bone formation. Immunostaining for MUC4 showed extensive positive staining. Our findings therefore expand the spectrum of gene fusions that characterize LGFMS and suggest that the EWSR1 gene may substitute for the function of FUS in gene fusions of sarcoma.


Assuntos
Proteínas de Ligação a Calmodulina/genética , Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico/genética , Fibrossarcoma/genética , Proteínas do Tecido Nervoso/genética , Proteínas de Ligação a RNA/genética , Neoplasias de Tecidos Moles/genética , Criança , Feminino , Humanos , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Proteínas de Fusão Oncogênica , Proteína EWS de Ligação a RNA , Reação em Cadeia da Polimerase Via Transcriptase Reversa
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