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1.
Pediatr Neurol ; 114: 16-20, 2020 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-33189025

RESUMO

BACKGROUND: Pathogenic variants in the IGHMBP2 gene cause recessive spinal motor neuropathies of variable phenotype, including a predominantly distal motor impairment of Charcot-Marie-Tooth type 2S and the more severe condition of spinal muscular atrophy with respiratory distress type 1 in which infantile respiratory failure predominates. METHODS: We describe the first reported case of spinal muscular atrophy with respiratory distress type 1 caused by a novel deep intronic variant in IGHMBP2 (NM_002180c.712-610A>G). RESULTS: The variant was detected by whole genome sequencing. Reverse transcription-polymerase chain reaction and complimentary DNA sequencing were used to characterize the impact of the novel variant. CONCLUSIONS: This report illustrates the utility in clinical practice of genome sequencing and RNA analysis, compared with exome sequencing alone.

2.
Am J Med Genet A ; 179(6): 1025-1029, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30861314

RESUMO

Overgrowth syndromes are rare genetic conditions which present as global or segmental hyperplasia and are sometimes associated with increased risk of malignancy. Trisomy of the terminal portion of 15q which includes the IGFR1 gene, produces a rare overgrowth phenotype that has been termed 15q overgrowth syndrome (15q OGS). Upregulation of IGF1R has long been implicated in oncogenesis of multiple cancer types, including acute leukemias, and has been shown to render cells more susceptible to other transforming events. To date, too few cases of 15q OGS have been reported to identify any cancer predisposition. We present a case of a 34-year-old female with intellectual disability, macrocephaly, and subtle dysmorphic features who was diagnosed with mixed phenotype acute leukemia (lymphoid and myeloid). Prior to initiation of therapy she was referred to medical genetics for further evaluation and was identified as having a chromosomal translocation resulting in a partial trisomy of chromosome 15q, consistent with 15q OGS. A review of the literature for cases of malignancy in individuals with increased copy number of 15q revealed only one other reported patient. Given the small number of reported individuals, we cannot rule out an increased risk of cancer associated with this chromosomal overgrowth syndrome. Although concerns have been raised regarding treatment feasibility in the setting of chromosomal disorders, the reported patient underwent successful treatment with allogeneic hematopoietic stem-cell transplant.


Assuntos
Cromossomos Humanos Par 15 , Transtornos do Crescimento/complicações , Transtornos do Crescimento/genética , Leucemia/diagnóstico , Leucemia/etiologia , Trissomia , Adulto , Facies , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Transtornos do Crescimento/metabolismo , Humanos , Leucemia/metabolismo , Neoplasias/diagnóstico , Neoplasias/etiologia , Neoplasias/metabolismo , Linhagem , Receptor IGF Tipo 1/genética , Receptor IGF Tipo 1/metabolismo , Transdução de Sinais , Síndrome
3.
Genet Med ; 21(7): 1585-1593, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30514889

RESUMO

PURPOSE: Diagnosing monogenic diseases facilitates optimal care, but can involve the manual evaluation of hundreds of genetic variants per case. Computational tools like Phrank expedite this process by ranking all candidate genes by their ability to explain the patient's phenotypes. To use these tools, busy clinicians must manually encode patient phenotypes from lengthy clinical notes. With 100 million human genomes estimated to be sequenced by 2025, a fast alternative to manual phenotype extraction from clinical notes will become necessary. METHODS: We introduce ClinPhen, a fast, high-accuracy tool that automatically converts clinical notes into a prioritized list of patient phenotypes using Human Phenotype Ontology (HPO) terms. RESULTS: ClinPhen shows superior accuracy and 20× speedup over existing phenotype extractors, and its novel phenotype prioritization scheme improves the performance of gene-ranking tools. CONCLUSION: While a dedicated clinician can process 200 patient records in a 40-hour workweek, ClinPhen does the same in 10 minutes. Compared with manual phenotype extraction, ClinPhen saves an additional 3-5 hours per Mendelian disease diagnosis. Providers can now add ClinPhen's output to each summary note attached to a filled testing laboratory request form. ClinPhen makes a substantial contribution to improvements in efficiency critically needed to meet the surging demand for clinical diagnostic sequencing.


Assuntos
Biologia Computacional , Doenças Genéticas Inatas/diagnóstico , Registros Médicos , Algoritmos , Humanos , Processamento de Linguagem Natural , Fenótipo
4.
Emerg Radiol ; 18(5): 381-4, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21655964

RESUMO

We aimed to determine the yield of positive head computed tomography (CT) findings among suspected alcohol-intoxicated patients presenting to the emergency department (ED). Our secondary aim was to determine if elderly intoxicated patients were more likely to have an intracranial injury. We identified patients suspected of alcohol intoxication who underwent CT scanning in the ED over a 4-year period. Pre-determined data elements including demographics, diagnosis, and disposition were extracted using a pre-formatted data sheet by blinded abstractors. "Positive" CT was defined as evidence of any type of intracranial hemorrhage. A total of 2,671 subjects with suspected alcohol intoxication and a head CT were identified. Fifty out of the 2,671 (1.9%) had a positive CT. Among CT scans of elderly (≥60 years of age) subjects, 15/555 (2.7%, 95% CI = 1.4-4.1%) were positive compared with 35/2,116 (1.7%, 95% CI = 1.1-2.2%) among those <60 years of age (p = 0.11). The yield of positive head CT among alcohol-intoxicated patients was low, at 1.9%. An age cutoff of 60 years in this population did not predict a significantly higher positive rate.


Assuntos
Intoxicação Alcoólica , Traumatismos Craniocerebrais/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Distribuição de Qui-Quadrado , Serviço Hospitalar de Emergência , Feminino , Humanos , Hemorragias Intracranianas/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
5.
Emerg Infect Dis ; 14(3): 390-6, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18325252

RESUMO

We reviewed medical records of patients without known HIV and with positive cultures for nontuberculous mycobacteria (NTM) isolated during 2000-2003 from 1 large hospital in New York, New York. Overall, 505 patients had positive NTM cultures; 119 (24%) met the criteria for NTM disease. The difference between demographic characteristics of case-patients in our study (66% female, 61% white, and 59% > 60 years of age) and those of the base population as determined by regional census data was statistically significant. Estimated incidences for positive cultures, all disease, and respiratory tract disease were 17.7, 2.7, and 2.0 per 100,000 persons, respectively. More patients with rapidly growing mycobacteria (61%), Mycobacterium kansasii (70%), or M. marinum (100%) met criteria for disease than did patients with M. avium complex (MAC) (27%, (p < 0.01). NTM disease in patients without HIV is increasing. Laboratory-based surveillance may be useful for detecting non-MAC and non-respiratory tract disease.


Assuntos
Infecções por HIV , Infecções por Mycobacterium não Tuberculosas/epidemiologia , Infecções por Mycobacterium não Tuberculosas/microbiologia , Mycobacterium/isolamento & purificação , Adolescente , Adulto , Idoso , Bacteriemia/epidemiologia , Bacteriemia/microbiologia , Feminino , Gastroenteropatias/epidemiologia , Gastroenteropatias/microbiologia , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Cidade de Nova Iorque/epidemiologia , Infecções Respiratórias/epidemiologia , Infecções Respiratórias/microbiologia , Dermatopatias Bacterianas/epidemiologia , Dermatopatias Bacterianas/microbiologia , Infecções dos Tecidos Moles/epidemiologia , Infecções dos Tecidos Moles/microbiologia , Infecção da Ferida Cirúrgica/epidemiologia , Infecção da Ferida Cirúrgica/microbiologia , Infecções Urinárias/epidemiologia , Infecções Urinárias/microbiologia
6.
J Immigr Minor Health ; 10(3): 239-46, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-17653863

RESUMO

Cancer screening rates are lower among Asian Americans than the general USA population. While prior studies examined characteristics of Asian American patients as predictors of cancer screening, few investigated their health care providers. Asian American primary care physicians practicing in New York City were surveyed by questionnaire regarding their demographics, practice characteristics, and cancer screening of their Asian American patients. Of the 117 eligible respondents, 96% recommended mammograms to their Asian patients 50+ years of age and 70% to patients 40-49-year-old. Only 30% of respondents use both age and onset of sexual activity to determine when to recommend Pap smears. For colorectal cancer screening, the rates of performing fecal occult blood testing or recommending colonoscopy or sigmoidoscopy were 77% and 74%. About 70% recommend screening for hepatitis B. Gender and ethnicity of the physician were found to be significant predictors for cancer screening practice.


Assuntos
Americanos Asiáticos/estatística & dados numéricos , Programas de Rastreamento/estatística & dados numéricos , Neoplasias/diagnóstico , Médicos de Família/estatística & dados numéricos , Padrões de Prática Médica/estatística & dados numéricos , Atitude do Pessoal de Saúde/etnologia , Feminino , Hepatite B/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Cidade de Nova Iorque , Fatores Sexuais
7.
Ann Acad Med Singap ; 36(11): 926-9, 2007 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18071603

RESUMO

INTRODUCTION: To assess the efficacy of screening stools sent for Clostridium difficile cytotoxin assay (CDTA) for surveillance of vancomycin-resistant enterococci (VRE). MATERIALS AND METHODS: From April to May 2005, all stools submitted for CDTA were also cultured for VRE using vancomycin containing culture media. Isolates were identified to species level and vancomycin resistance confirmed, followed by polymerase chain reaction (PCR) for detection of vancomycin resistance genes and DNA fingerprinting. Over 2 consecutive days during that period, stool specimens or rectal swabs were also obtained from all patients in high-risk units (haematology, oncology, renal and intensive care). Fifty-one patients in each group were compared in terms of VRE risk factors previously identified. RESULTS AND DISCUSSION: The prevalence of VRE in both groups was similar [3/204 (1.5%) in the CDTA arm and 1/97 (1.0%) in the high-risk arm; P = 1.0, Fisher's exact test]. Prevalence of risk factors for VRE colonisation, including age, duration of hospitalisation, exposure to antibiotics, exposure to surgical procedures, presence of malignancy and diabetes mellitus was similar in both groups (P > 0.05). Only renal failure (P < 0.05) was more common in the high-risk group. All 4 isolates of VRE identified were genetically distinct by variable number tandem repeat (VNTR) typing; 3 were Enterococcus faecium (2 with the vanB gene, 1 with vanA) and one E. faecalis. CONCLUSION: Less than 2% of our high-risk patients are VRE carriers. In-hospital VRE screening using stools sent for CDTA is a simple, reasonable surrogate for screening individual high-risk patients as the patient risk profile is similar and the yield comparable in a low-prevalence setting.


Assuntos
/isolamento & purificação , Enterococcus faecalis/efeitos dos fármacos , Hospitais de Ensino , Programas de Rastreamento , Resistência a Vancomicina , Adulto , Idoso , Estudos de Coortes , Fezes/microbiologia , Feminino , Pesquisas sobre Serviços de Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Singapura
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