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1.
JAMA Netw Open ; 4(8): e2120456, 2021 08 02.
Artigo em Inglês | MEDLINE | ID: mdl-34379123

RESUMO

Importance: Prior studies on COVID-19 and pregnancy have reported higher rates of cesarean delivery and preterm birth and increased morbidity and mortality. Additional data encompassing a longer time period are needed. Objective: To examine characteristics and outcomes of a large US cohort of women who underwent childbirth with vs without COVID-19. Design, Setting, and Participants: This cohort study compared characteristics and outcomes of women (age ≥18 years) who underwent childbirth with vs without COVID-19 between March 1, 2020, and February 28, 2021, at 499 US academic medical centers or community affiliates. Follow-up was limited to in-hospital course and discharge destination. Childbirth was defined by clinical classification software procedural codes of 134-137. A diagnosis of COVID-19 was identified using International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10) diagnosis of U07.1. Data were analyzed from April 1 to April 30, 2021. Exposures: The presence of a COVID-19 diagnosis using ICD-10. Main Outcomes and Measures: Analyses compared demographic characteristics, gestational age, and comorbidities. The primary outcome was in-hospital mortality. Secondary outcomes included hospital length of stay, intensive care unit (ICU) admission, mechanical ventilation, and discharge status. Continuous variables were analyzed using t test, and categorical variables were analyzed using χ2. Results: Among 869 079 women, 18 715 (2.2%) had COVID-19, and 850 364 (97.8%) did not. Most women were aged 18 to 30 years (11 550 women with COVID-19 [61.7%]; 447 534 women without COVID-19 [52.6%]) and were White (8060 White women [43.1%] in the COVID-19 cohort; 499 501 White women (58.7%) in the non-COVID-19 cohort). There was no significant increase in cesarean delivery among women with COVID-19 (6088 women [32.5%] vs 273 810 women [32.3%]; P = .57). Women with COVID-19 were more likely to have preterm birth (3072 women [16.4%] vs 97 967 women [11.5%]; P < .001). Women giving birth with COVID-19, compared with women without COVID-19, had significantly higher rates of ICU admission (977 women [5.2%] vs 7943 women [0.9%]; odds ratio [OR], 5.84 [95% CI, 5.46-6.25]; P < .001), respiratory intubation and mechanical ventilation (275 women [1.5%] vs 884 women [0.1%]; OR, 14.33 [95% CI, 12.50-16.42]; P < .001), and in-hospital mortality (24 women [0.1%] vs 71 [<0.01%]; OR, 15.38 [95% CI, 9.68-24.43]; P < .001). Conclusions and Relevance: This retrospective cohort study found that women with COVID-19 giving birth had higher rates of mortality, intubation, ICU admission, and preterm birth than women without COVID-19.


Assuntos
COVID-19/mortalidade , Unidades de Terapia Intensiva/estatística & dados numéricos , Nascimento Prematuro/epidemiologia , Centros Médicos Acadêmicos/estatística & dados numéricos , Adolescente , Adulto , COVID-19/terapia , Estudos de Casos e Controles , Cesárea/estatística & dados numéricos , Bases de Dados Factuais , Feminino , Mortalidade Hospitalar , Humanos , Intubação Intratraqueal/estatística & dados numéricos , Tempo de Internação/estatística & dados numéricos , Pessoa de Meia-Idade , Pandemias , Gravidez , Complicações Infecciosas na Gravidez/mortalidade , Complicações Infecciosas na Gravidez/terapia , Estudos Retrospectivos , SARS-CoV-2 , Estados Unidos/epidemiologia , Adulto Jovem
2.
N Engl J Med ; 383(18): 1746-1756, 2020 10 29.
Artigo em Inglês | MEDLINE | ID: mdl-33027564

RESUMO

BACKGROUND: The cause of most fetal anomalies is not determined prenatally. Exome sequencing has transformed genetic diagnosis after birth, but its usefulness for prenatal diagnosis is still emerging. Nonimmune hydrops fetalis (NIHF), a fetal abnormality that is often lethal, has numerous genetic causes; the extent to which exome sequencing can aid in its diagnosis is unclear. METHODS: We evaluated a series of 127 consecutive unexplained cases of NIHF that were defined by the presence of fetal ascites, pleural or pericardial effusions, skin edema, cystic hygroma, increased nuchal translucency, or a combination of these conditions. The primary outcome was the diagnostic yield of exome sequencing for detecting genetic variants that were classified as either pathogenic or likely pathogenic according to the criteria of the American College of Medical Genetics and Genomics. Secondary outcomes were the percentage of cases associated with specific genetic disorders and the proportion of variants that were inherited. RESULTS: In 37 of the 127 cases (29%), we identified diagnostic genetic variants, including those for disorders affecting the RAS-MAPK cell-signaling pathway (known as RASopathies) (30% of the genetic diagnoses); inborn errors of metabolism and musculoskeletal disorders (11% each); lymphatic, neurodevelopmental, cardiovascular, and hematologic disorders (8% each); and others. Prognoses ranged from a relatively mild outcome to death during the perinatal period. Overall, 68% of the cases (25 of 37) with diagnostic variants were autosomal dominant (of which 12% were inherited and 88% were de novo), 27% (10 of 37) were autosomal recessive (of which 95% were inherited and 5% were de novo), 1 was inherited X-linked recessive, and 1 was of uncertain inheritance. We identified potentially diagnostic variants in an additional 12 cases. CONCLUSIONS: In this large case series of 127 fetuses with unexplained NIHF, we identified a diagnostic genetic variant in approximately one third of the cases. (Funded by the UCSF Center for Maternal-Fetal Precision Medicine and others; ClinicalTrials.gov number, NCT03412760.).


Assuntos
Variação Genética , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/genética , Diagnóstico Pré-Natal , Sequenciamento Completo do Exoma , Feminino , Humanos , Gravidez , Prognóstico
3.
Transfusion ; 59(9): 2952-2963, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31294868

RESUMO

BACKGROUND: Rejuvenation of stored red blood cells (RBCs) increases levels of adenosine 5'-triphosphate (ATP) and 2,3-diphosphoglycerate (2,3-DPG) to those of fresh cells. This study aimed to optimize and validate the US-approved process to a UK setting for manufacture and issue of rejuvenated RBCs for a multicenter randomized controlled clinical trial in cardiac surgery. STUDY DESIGN AND METHODS: Rejuvenation of leukoreduced RBC units involved adding a solution containing pyruvate, inosine, phosphate, and adenine (Rejuvesol, Zimmer Biomet), warming at 37°C for 60 minutes, then "manual" washing with saline adenine glucose mannitol solution. A laboratory study was conducted on six pools of ABO/D-matched units made the day after donation. On Days 7, 21, and 28 of 4 ± 2°C storage, one unit per pool was rejuvenated and measured over 96 hours for volume, hematocrit, hemolysis, ATP, 2,3-DPG, supernatant potassium, lactate, and purines added (inosine) or produced (hypoxanthine) by rejuvenation. Subsequently, an operational validation (two phases of 32 units each) was undertaken, with results from the first informing a trial component specification applied to the second. Rejuvenation effects were also tested on crossmatch reactivity and RBC antigen profiles. RESULTS: Rejuvenation raised 2,3-DPG to, and ATP above, levels of fresh cells. The final component had potassium and hemolysis values below those of standard storage Days 7 and 21, respectively, containing 1.2% exogenous inosine and 500 to 1900 µmoles/unit of hypoxanthine. The second operational validation met compliance to the trial component specification. Rejuvenation did not adversely affect crossmatch reactivity or RBC antigen profiles. CONCLUSION: The validated rejuvenation process operates within defined quality limits, preserving RBC immunophenotypes, enabling manufacture for clinical trials.


Assuntos
Preservação de Sangue/métodos , Eritrócitos/fisiologia , Medicina Regenerativa/métodos , Rejuvenescimento/fisiologia , 2,3-Difosfoglicerato/metabolismo , Trifosfato de Adenosina/sangue , Tipagem e Reações Cruzadas Sanguíneas , Perda Sanguínea Cirúrgica/prevenção & controle , Preservação de Sangue/normas , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Criopreservação/métodos , Contagem de Eritrócitos , Transfusão de Eritrócitos/normas , Eritrócitos/citologia , Hemólise/fisiologia , Humanos , Imunofenotipagem , Manufaturas , Purinas/sangue , Controle de Qualidade , Ensaios Clínicos Controlados Aleatórios como Assunto , Medicina Regenerativa/normas
4.
Genet Med ; 21(6): 1339-1344, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30410095

RESUMO

PURPOSE: Numerous etiologies may lead to nonimmune hydrops fetalis (NIHF), and the underlying cause often remains unclear. We aimed to determine the proportion of NIHF cases in which the etiology was clearly determined in a large, contemporary, and diverse cohort, as well as to describe the etiologies with a focus on genetic causes. METHODS: Retrospective review of NIHF cases between 2015 and 2017 from the five University of California Fetal-Maternal Consortium sites. Singleton pregnancies with prenatally diagnosed NIHF were included, and cases with maternal alloimmunization were excluded. Cases were categorized as being of confirmed, suspected, or unknown etiology. RESULTS: Sixty-five NIHF cases were identified. Forty-six percent (30/65) remained of unknown etiology, while 9.2% (6/65) had a suspected etiology and 44.6% (29/65) were of confirmed etiology. Among confirmed cases, 11 resulted from aneuploidy; 7 from fetal structural anomalies; 2 each from fetal arrhythmia, Noonan syndrome, and generalized lymphatic dysplasia; and 1 each from arthrogryposis, parvovirus, neonatal alloimmune thrombocytopenia, fetal goiter, and Kasabach-Merritt syndrome. CONCLUSION: In this contemporary, multicenter study, the cause of prenatally diagnosed NIHF was confirmed in only 44% of cases, and a genetic etiology was found in only 25% of those that received standard of care genetic testing.


Assuntos
Hidropisia Fetal/etiologia , Hidropisia Fetal/genética , Adolescente , Adulto , Aneuploidia , California , Estudos de Coortes , Feminino , Feto , Humanos , Recém-Nascido , Masculino , Gravidez , Primeiro Trimestre da Gravidez , Cuidado Pré-Natal , Estudos Retrospectivos , Ultrassonografia Pré-Natal
5.
Ultrasound ; 26(3): 160-167, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30147740

RESUMO

B-Flow imaging directly displays the flowing intravascular echoes during real-time gray-scale ultrasound without using Doppler techniques. The objective of our study was to evaluate the feasibility of B-Flow imaging in the placenta and to evaluate the artifacts seen on B-Flow imaging. After IRB approval, 36 women (17 normal and 19 high risk women) were enrolled in our study. B-Flow images were acquired on GE LOGIC E9 machine. Retrospective analysis of the B-Flow and cine capture images was performed for artifacts and for vessels visualized. Pregnant women enrolled in the study ranged from 19 to 43 years of age with an average age of 31.7 years. Gestational age varied from 17 weeks and five days to 36 weeks and three days with an average of 26 weeks and three days. From a total of 161 B-Flow images reviewed by one researcher, 15 images were acceptable with no evidence of artifact. The remainder of the images had some artifact in them. For the 36 women with color Doppler and B-Flow images reviewed by the two independent blinded reviewers, a total of 144 reads were obtained. More small horizontal (p = 0.046) and small vertical running vessels (p < 0.001) were identified with B-Flow than color Doppler images. B-Flow is capable of showing perfusion in a human placenta; however, recognizing artifacts and modifying the image acquisition to reduce artifacts is necessary with this new technique to acquire the best images for interpretation.

6.
Diabetes Res Clin Pract ; 118: 98-104, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27351800

RESUMO

OBJECTIVE: To characterize the maternal glycemic response to betamethasone in subjects without diabetes compared to subjects with diabetes. STUDY DESIGN: Blood glucose levels in 22 gravidae without diabetes and 11 gravidae with diabetes were recorded for 48h following betamethasone administration for threatened preterm delivery. Maximum blood glucose value and time to maximum value were compared. Area under the curve calculations were used to express the duration and degree of significant hyperglycemia for individual subjects. These summary measures were then correlated to subject characteristics and laboratory values to determine a risk profile of those subjects without diabetes at risk for significant hyperglycemia. RESULTS: All subjects with diabetes and the majority of those without diabetes had significant hyperglycemia during the study period. Mean maximum blood glucose was higher for those with diabetes (205mg/dL vs. 173mg/dL, p⩽0.01). Mean time to reach the maximum glucose level was similar for both groups. Result of a glucose tolerance test given immediately prior to betamethasone correlated strongly with amount of time spent with hyperglycemia for subjects without diabetes (rho=0.59, p⩽0.01). Morbidly obese subjects spent less time with hyperglycemia than those with lower body mass indices (p=0.03). CONCLUSION: Both subjects with and without diabetes demonstrate significant hyperglycemia after receipt of antenatal betamethasone.


Assuntos
Betametasona/uso terapêutico , Diabetes Gestacional/tratamento farmacológico , Hipoglicemiantes/uso terapêutico , Adolescente , Adulto , Betametasona/farmacologia , Glicemia , Diabetes Gestacional/sangue , Feminino , Humanos , Hipoglicemiantes/farmacologia , Recém-Nascido , Gravidez , Resultado do Tratamento , Adulto Jovem
7.
AJP Rep ; 6(2): e212-5, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27294007

RESUMO

Background When placenta accreta complicates a delivery, the typical management is to perform a cesarean hysterectomy. Other management strategies, including leaving the placenta in situ, have been attempted and supported in some cases. This may allow for an interval hysterectomy, which can potentially decrease average blood loss and/or allow a minimally invasive approach to the hysterectomy. Cases We present two cases of women with invasive placentation managed conservatively with interval hysterectomy. One woman was managed with robotic-assisted laparoscopic surgery and the other with an open surgical approach. Conclusion These cases highlight the successful use of conservative management for invasive placentation in two stable patients and showcase the novel use of a robotic-assisted laparoscopic surgery for management of invasive placentation.

8.
Blood ; 127(23): 2791-803, 2016 06 09.
Artigo em Inglês | MEDLINE | ID: mdl-27084890

RESUMO

Inherited bleeding, thrombotic, and platelet disorders (BPDs) are diseases that affect ∼300 individuals per million births. With the exception of hemophilia and von Willebrand disease patients, a molecular analysis for patients with a BPD is often unavailable. Many specialized tests are usually required to reach a putative diagnosis and they are typically performed in a step-wise manner to control costs. This approach causes delays and a conclusive molecular diagnosis is often never reached, which can compromise treatment and impede rapid identification of affected relatives. To address this unmet diagnostic need, we designed a high-throughput sequencing platform targeting 63 genes relevant for BPDs. The platform can call single nucleotide variants, short insertions/deletions, and large copy number variants (though not inversions) which are subjected to automated filtering for diagnostic prioritization, resulting in an average of 5.34 candidate variants per individual. We sequenced 159 and 137 samples, respectively, from cases with and without previously known causal variants. Among the latter group, 61 cases had clinical and laboratory phenotypes indicative of a particular molecular etiology, whereas the remainder had an a priori highly uncertain etiology. All previously detected variants were recapitulated and, when the etiology was suspected but unknown or uncertain, a molecular diagnosis was reached in 56 of 61 and only 8 of 76 cases, respectively. The latter category highlights the need for further research into novel causes of BPDs. The ThromboGenomics platform thus provides an affordable DNA-based test to diagnose patients suspected of having a known inherited BPD.


Assuntos
Transtornos Plaquetários/genética , Predisposição Genética para Doença , Hemorragia/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Trombose/genética , Estudos de Casos e Controles , Variações do Número de Cópias de DNA , Feminino , Estudos de Associação Genética/métodos , Humanos , Masculino , Mutação , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA/métodos
9.
Surg Endosc ; 30(9): 3783-91, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-26585194

RESUMO

BACKGROUND: Surgical procedures have a learning curve regarding the number of cases required for proficiency. Consequently, involvement of less experienced resident surgeons may impact patients and the healthcare system. This study examines basic and advanced laparoscopic procedures performed between 2010 and 2011 and evaluates the resident surgeon participation effect. METHODS: Basic laparoscopic procedures (BL), appendectomy (LA), cholecystectomy (LC), and advanced Nissen fundoplication (LN) were queried from the American College of Surgeons National Surgical Quality Improvement Program database. Cases were identified using Current Procedural Terminology codes. Analyses were performed using IBM SPSS Statistics v.22, α-level = 0.05. Multiple logistic regression was used, accounting for age, race, gender, admission status, wound classification, and ASA classification. RESULTS: In total, 71,819 surgeries were reviewed, 66,327 BL (37,636 LC and 28,691 LA) and 5492 LN. Median age was 48 years for LC and 37 years for LA. In sum, 72.2 % of LC and 49.5 % of LA patients were female. LN median age was 59 years, and 67.7 % of patients were female. For BL, resident involvement was not significantly associated with mortality, morbidity, and return to the OR. Readmission was not related to resident involvement in LC. In LA, resident-involved surgeries had increased readmission and longer OR time, but decreased LOS. In LC, resident involvement was associated with longer LOS and OR time. Resident involvement was not a significant factor in the odds of mortality, morbidity, return to OR, or readmission in LN. Surgeries involving residents had increased odds of having longer LOS, and of lengthier surgery time. CONCLUSIONS: We demonstrate resident involvement is safe and does not result in poorer patient outcomes. Readmissions and LOS were higher in BL, and operative times were longer in all surgeries. Resident operations do appear to have real consequences for patients and may impact the healthcare system financially.


Assuntos
Internato e Residência , Laparoscopia/estatística & dados numéricos , Tempo de Internação/estatística & dados numéricos , Duração da Cirurgia , Adulto , Idoso , Apendicectomia/estatística & dados numéricos , Colecistectomia/estatística & dados numéricos , Competência Clínica , Feminino , Fundoplicatura/estatística & dados numéricos , Humanos , Curva de Aprendizado , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde , Melhoria de Qualidade , Resultado do Tratamento
10.
Surg Endosc ; 30(5): 1790-5, 2016 05.
Artigo em Inglês | MEDLINE | ID: mdl-26194263

RESUMO

BACKGROUND: Laparoscopic repair of paraesophageal hernia (PEH) with fundoplication is currently the preferred elective strategy, but emergent cases are often done open without an anti-reflux (AR) procedure. This study examined PEH repair in elective and urgent/emergent settings and investigated patient characteristic influence on the use of adjunctive techniques, such as AR procedures or gastrostomy tube (GT) placement. METHODS: Utilizing the University HealthSystem Consortium Clinical Database Resource Manager, selected discharge data were retrieved using International Classification of Disease 9 diagnosis codes for PEH and procedure specific codes. Chi-squared and paired t tests were applied (α = 0.05). RESULTS: Discharge data from October 2010 through June 2014 indicated 7950 patients (≥18 years) underwent PEH surgery, 84.7 % were performed laparoscopically and 15.3 % open. 24.6 % of cases were classified urgent/emergent upon admission, and almost 70 % of these were completed laparoscopically. Open paraesophageal hernia repairs (OHR) represented a higher proportion of urgent/emergent cases but were only 30 % of this total. Laparoscopic paraesophageal hernia repair (LHR) patients were more likely to receive an AR procedure in all situations (54.9 % LHR vs. 26.3 % OHR). Almost 90 % of elective PEH repairs in this cohort were laparoscopic. Elective cases were more commonly associated with AR procedures than emergent cases which frequently incorporated GT placement. CONCLUSION: We demonstrate that laparoscopic PEH repair has become accepted in emergent cases. Open PEH repair is often reserved for emergent surgeries and less commonly includes an AR procedure. Laparoscopy with an AR procedure is clearly the standard of care in elective surgery. The decision to perform an open or laparoscopic surgery, with or without adjunctive techniques, may be based more on the physician's comfort with laparoscopic surgery and surgical practices than the patient's condition. Long-term follow-up studies are needed to determine the functional outcomes of these strategies.


Assuntos
Fundoplicatura/estatística & dados numéricos , Hérnia Hiatal/cirurgia , Herniorrafia/métodos , Laparoscopia/estatística & dados numéricos , Padrões de Prática Médica/estatística & dados numéricos , Centros Médicos Acadêmicos , Adulto , Idoso , Idoso de 80 Anos ou mais , Bases de Dados Factuais , Procedimentos Cirúrgicos Eletivos/métodos , Procedimentos Cirúrgicos Eletivos/estatística & dados numéricos , Emergências , Feminino , Fundoplicatura/métodos , Herniorrafia/estatística & dados numéricos , Humanos , Laparoscopia/métodos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Estados Unidos
11.
Genome Med ; 7(1): 36, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25949529

RESUMO

BACKGROUND: Heritable bleeding and platelet disorders (BPD) are heterogeneous and frequently have an unknown genetic basis. The BRIDGE-BPD study aims to discover new causal genes for BPD by high throughput sequencing using cluster analyses based on improved and standardised deep, multi-system phenotyping of cases. METHODS: We report a new approach in which the clinical and laboratory characteristics of BPD cases are annotated with adapted Human Phenotype Ontology (HPO) terms. Cluster analyses are then used to characterise groups of cases with similar HPO terms and variants in the same genes. RESULTS: We show that 60% of index cases with heritable BPD enrolled at 10 European or US centres were annotated with HPO terms indicating abnormalities in organ systems other than blood or blood-forming tissues, particularly the nervous system. Cases within pedigrees clustered closely together on the bases of their HPO-coded phenotypes, as did cases sharing several clinically suspected syndromic disorders. Cases subsequently found to harbour variants in ACTN1 also clustered closely, even though diagnosis of this recently described disorder was not possible using only the clinical and laboratory data available to the enrolling clinician. CONCLUSIONS: These findings validate our novel HPO-based phenotype clustering methodology for known BPD, thus providing a new discovery tool for BPD of unknown genetic basis. This approach will also be relevant for other rare diseases with significant genetic heterogeneity.

12.
Surg Clin North Am ; 95(3): 555-65, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25965129

RESUMO

The treatment of PEHs is challenging. They tend to occur in patients in their 60s and 70s with multiple medical problems and a variety of associated symptoms. Detailed preoperative evaluation is crucial to determining a safe and effective strategy for repair in the operating room. Laparoscopic PEH repair has shown to be advantageous compared with conventional open repair with regard to hospital stay, recovery time, and decreased complications. Although some results indicate there are higher recurrence rates in laparoscopic PEH repair, the clinical significance of these recurrences has not yet been determined. In order to maximize the efficacy of this procedure, modifications have emerged, such as performing a fundoplication and using an absorbable mesh onlay to reinforce the cruroplasty. Althoughmoreprospective, randomized studies are needed to support the superior results of these surgical adjuncts, laparoscopic PEH repair with an antireflux procedure and absorbable mesh should be the current standard of care.


Assuntos
Fundoplicatura/métodos , Hérnia Hiatal/cirurgia , Laparoscopia/métodos , Endoscopia do Sistema Digestório , Refluxo Gastroesofágico/complicações , Hérnia Hiatal/classificação , Hérnia Hiatal/complicações , Humanos , Cuidados Pré-Operatórios , Recidiva
14.
Birth Defects Res A Clin Mol Teratol ; 103(4): 260-8, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25820190

RESUMO

BACKGROUND: With refinement in ultrasound technology, detection of fetal structural abnormalities has improved and there have been detailed reports of the natural history and expected outcomes for many anomalies. The ability to either reassure a high-risk woman with normal intrauterine images or offer comprehensive counseling and offer options in cases of strongly suspected lethal or major malformations has shifted prenatal diagnoses to the earliest possible gestational age. METHODS: When indicated, scans in early gestation are valuable in accurate gestational dating. Stricter sonographic criteria for early nonviability guard against unnecessary intervention. Most birth defects are without known risk factors, and detection of certain malformations is possible in the late first trimester. RESULTS: The best time for a standard complete fetal and placental scan is 18 to 20 weeks. In addition, certain soft anatomic markers provide clues to chromosomal aneuploidy risk. Maternal obesity and multifetal pregnancies are now more common and further limit early gestation visibility. CONCLUSION: Other advanced imaging techniques during early gestation in select cases of suspected malformations include fetal echocardiography and magnetic resonance imaging.


Assuntos
Anormalidades Congênitas/diagnóstico por imagem , Anormalidades Congênitas/diagnóstico , Viabilidade Fetal/fisiologia , Ultrassonografia/métodos , Ultrassonografia/tendências , Fatores Etários , Ecocardiografia/métodos , Feminino , Viabilidade Fetal/genética , Humanos , Imageamento por Ressonância Magnética/métodos , Gravidez
15.
Ultrasound Q ; 31(1): 34-6, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25706362

RESUMO

We present the sonographic features of a second-trimester fetus diagnosed with a bradyarrhythmia at 19 weeks' gestation. The mother carried a diagnosis of Sjögren syndrome, including the presence of SSA and SSB antibodies. Ultrasound M-mode and fetal echocardiogram revealed the etiology of the bradycardia to be a complete fetal congenital heart block, likely due to transplacental passage of autoimmune anti-Ro/SSA and anti-La/SSB antibodies. Consequential to the congenital heart block, the fetus developed hydrops fetalis at 21 weeks' gestational age. We discuss the 2 major etiologies of congenital heart block and the implications in subsequent pregnancies.


Assuntos
Anticorpos Antinucleares/imunologia , Bloqueio Cardíaco/congênito , Complicações na Gravidez/imunologia , Síndrome de Sjogren/diagnóstico por imagem , Síndrome de Sjogren/imunologia , Adulto , Feminino , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/imunologia , Bloqueio Cardíaco/diagnóstico por imagem , Bloqueio Cardíaco/imunologia , Humanos , Gravidez , Complicações na Gravidez/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos
16.
J Matern Fetal Neonatal Med ; 28(1): 71-6, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24670202

RESUMO

OBJECTIVE: To evaluate the impact of an obstetric hemorrhage risk assessment on pretransfusion testing and hemorrhage outcomes at a tertiary care, academic medical center. METHODS: A retrospective cohort study was performed among women delivering neonates≥24 weeks from 2009 to 2011. Demographics, pretransfusion testing rates and hemorrhage outcomes were compared between those delivering before and after implementation of the risk assessment. Multivariable analyses were used to determine predictors of postpartum hemorrhage and transfusion. RESULTS: There were 1388 women delivering before and 2121 women delivering after implementation of the risk assessment. More pretransfusion testing occurred after the assessment was initiated (22.8% versus 15.0%). Those who were considered high-risk were more likely to experience hemorrhage outcomes. In multivariable analyses, physician ordering practice in the pre-risk assessment period was a better prognosticator of both postpartum hemorrhage (aOR 9.98, 95% CI 5.02-19.82) and transfusion (aOR 31.14, 95% CI 14.97-64.82) than completion of a cross-match after implementation of the risk assessment (postpartum hemorrhage: aOR 2.10, 95% CI 1.20-3.66, transfusion: aOR 6.31, 95% CI 3.34-11.94). CONCLUSIONS: Pre-risk assessment practice may be better at identifying those in need of blood transfusion, strictly due to the necessity for pretransfusion orders for transfusion to occur. In contrast, the obstetric hemorrhage risk assessment accurately predicted those who were more likely to experience hemorrhage outcomes. Optimal utilization of the risk assessment has yet to be determined.


Assuntos
Hemorragia Pós-Parto , Adulto , Transfusão de Sangue/estatística & dados numéricos , Estudos Controlados Antes e Depois , Feminino , Humanos , Gravidez , Estudos Retrospectivos , Medição de Risco , Adulto Jovem
17.
Nat Commun ; 5: 4926, 2014 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-25352340

RESUMO

Variation in body iron is associated with or causes diseases, including anaemia and iron overload. Here, we analyse genetic association data on biochemical markers of iron status from 11 European-population studies, with replication in eight additional cohorts (total up to 48,972 subjects). We find 11 genome-wide-significant (P<5 × 10(-8)) loci, some including known iron-related genes (HFE, SLC40A1, TF, TFR2, TFRC, TMPRSS6) and others novel (ABO, ARNTL, FADS2, NAT2, TEX14). SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis. There is substantial overlap between our iron loci and loci affecting erythrocyte and lipid phenotypes. These results will facilitate investigation of the roles of iron in disease.


Assuntos
Loci Gênicos , Predisposição Genética para Doença , Hemocromatose/genética , Homeostase/genética , Ferro/metabolismo , Adulto , Cromossomos Humanos Par 7/genética , Ferritinas/metabolismo , Regulação da Expressão Gênica , Estudos de Associação Genética , Hemocromatose/sangue , Humanos , Ferro/sangue , Lipídeos/sangue , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Reprodutibilidade dos Testes , Fatores de Risco , Transferrina/metabolismo
18.
PLoS One ; 9(5): e98289, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24879339

RESUMO

AIMS: Genetic factors explain a proportion of the inter-individual variation in the risk for atherosclerotic events, but the genetic basis of atherosclerosis and atherothrombosis in families with Mendelian forms of premature atherosclerosis is incompletely understood. We set out to unravel the molecular pathology in a large kindred with an autosomal dominant inherited form of premature atherosclerosis. METHODS AND RESULTS: Parametric linkage analysis was performed in a pedigree comprising 4 generations, of which a total of 11 members suffered from premature vascular events. A parametric LOD-score of 3.31 was observed for a 4.4 Mb interval on chromosome 12. Upon sequencing, a non-synonymous variant in KERA (c.920C>G; p.Ser307Cys) was identified. The variant was absent from nearly 28,000 individuals, including 2,571 patients with premature atherosclerosis. KERA, a proteoglycan protein, was expressed in lipid-rich areas of human atherosclerotic lesions, but not in healthy arterial specimens. Moreover, KERA expression in plaques was significantly associated with plaque size in a carotid-collar Apoe-/- mice (r2 = 0.69; p<0.0001). CONCLUSION: A rare variant in KERA was identified in a large kindred with premature atherosclerosis. The identification of KERA in atherosclerotic plaque specimen in humans and mice lends support to its potential role in atherosclerosis.


Assuntos
Aterosclerose/genética , Análise Mutacional de DNA , Ligação Genética , Mutação , Linhagem , Proteoglicanas/genética , Idoso , Animais , Apolipoproteínas E/deficiência , Aterosclerose/patologia , Espaço Extracelular/metabolismo , Feminino , Humanos , Masculino , Camundongos , Pessoa de Meia-Idade , Simulação de Dinâmica Molecular , Conformação Proteica , Proteoglicanas/química
19.
Obstet Gynecol ; 123(2 Pt 2 Suppl 2): 469-472, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24413234

RESUMO

BACKGROUND: To demonstrate that vaginal delivery is a safe alternative to hysterotomy when planning pregnancy termination of late-second-trimester conjoined twins. We present two cases of conjoined twins in the late second trimester desiring pregnancy termination. CASE: The first case involved a multiparous 29-year-old woman at 23 6/7 weeks of gestation with thoraco-omphalopagus conjoined twins. The second case involved an 18-year-old primigravid woman at 25 1/7 weeks of gestation with pyopagus conjoined twins. Both desired pregnancy termination and to avoid hysterotomy. Inductions were initiated with Laminaria and augmented with vaginal misoprostol or oxytocin. Both patients had uncomplicated vaginal deliveries of intact conjoined twins without significant maternity morbidity. CONCLUSION: Induction of labor and vaginal delivery can be a safe method for late-second-trimester termination of pregnancies with conjoined twins.


Assuntos
Aborto Induzido , Trabalho de Parto Induzido , Segundo Trimestre da Gravidez , Gêmeos Unidos , Adolescente , Adulto , Feminino , Humanos , Gravidez
20.
J Matern Fetal Neonatal Med ; 27(8): 821-4, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-23962130

RESUMO

OBJECTIVE: To describe the impact of previous cervical surgery on preterm birth prior to 34 weeks in twins. METHODS: A retrospective review of twin pregnancies delivered between January 1998 and December 2005 at two institutions was performed. Women with a prior cold knife cone (CKC), loop electrosurgical excision procedure (LEEP), or ablative procedure were compared to a control group of women who had not undergone a previous treatment for cervical dysplasia. The primary outcome was delivery before 34 weeks of gestation. RESULTS: A total of 876 women met inclusion criteria. Of these, 110 (12.6%) had previous surgical procedures for cervical dysplasia, including CKC (n = 10), LEEP (n = 36), cryotherapy (n = 59) and CO2 laser treatment (n = 5). Delivery prior to 34 weeks was more common in women with a previous CKC compared to women with no prior treatment (40% versus 11.3%; odds ratio [OR], 3.6; 95% confidence interval [CI], 1.7-8.0). Delivery prior to 34 weeks was not more common in women with a previous LEEP (8.3%; OR, 0.8; 95% CI, 0.3-2.3) or ablative procedure (9.4%; OR, 0.9; 95% CI, 0.4-1.9) in comparison to the untreated group. Adjusting for the potential confounders of age, tobacco use, infertility treatments and previous preterm birth did not change the results. CONCLUSIONS: Previous CKC is associated with delivery prior to 34 weeks while LEEP and ablative procedures are not. CKC should be carefully considered and avoided when possible in reproductive age women.


Assuntos
Procedimentos Cirúrgicos em Ginecologia/estatística & dados numéricos , Gravidez de Gêmeos/estatística & dados numéricos , Nascimento Prematuro/epidemiologia , Displasia do Colo do Útero/epidemiologia , Displasia do Colo do Útero/cirurgia , Adulto , Criocirurgia/efeitos adversos , Criocirurgia/estatística & dados numéricos , Eletrocirurgia/efeitos adversos , Eletrocirurgia/estatística & dados numéricos , Feminino , Procedimentos Cirúrgicos em Ginecologia/efeitos adversos , Humanos , Recém-Nascido , Terapia a Laser/efeitos adversos , Terapia a Laser/estatística & dados numéricos , Gravidez , Nascimento Prematuro/etiologia , Estudos Retrospectivos , Gêmeos , Displasia do Colo do Útero/complicações
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