Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 18 de 18
Filtrar
Mais filtros

Base de dados
País/Região como assunto
Tipo de documento
Intervalo de ano de publicação
1.
Hum Genet ; 141(1): 101-126, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34853893

RESUMO

Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular genetic diagnostics with variable diagnostic yields. In this study, we aimed to determine the diagnostic yield of trio-ES in detecting the cause of fetal abnormalities within a highly consanguineous population. In families with a history of congenital anomalies, a total of 119 fetuses with structural anomalies were recruited and DNA from invasive samples were used together with parental DNA samples for trio-ES and CMA. Data were analysed to determine possible underlying genetic disorders associated with observed fetal phenotypes. The cohort had a known consanguinity of 81%. Trio-ES led to diagnostic molecular genetic findings in 59 fetuses (with pathogenic/likely pathogenic variants) most with multisystem or renal abnormalities. CMA detected chromosomal abnormalities compatible with the fetal phenotype in another 7 cases. Monogenic ciliopathy disorders with an autosomal recessive inheritance were the predominant cause of multisystem fetal anomalies (24/59 cases, 40.7%) with loss of function variants representing the vast majority of molecular genetic abnormalities. Heterozygous de novo pathogenic variants were found in four fetuses. A total of 23 novel variants predicted to be associated with the phenotype were detected. Prenatal trio-ES and CMA detected likely causative molecular genetic defects in a total of 55% of families with fetal anomalies confirming the diagnostic utility of trio-ES and CMA as first-line genetic test in the prenatal diagnosis of multisystem fetal anomalies including ciliopathy syndromes.


Assuntos
Aberrações Cromossômicas , Ciliopatias/genética , Feto/anormalidades , Feto/fisiopatologia , Variação Genética , Estudos de Coortes , Consanguinidade , Feminino , Predisposição Genética para Doença , Testes Genéticos/métodos , Humanos , Análise em Microsséries , Fenótipo , Gravidez , Diagnóstico Pré-Natal/métodos , Sequenciamento do Exoma
2.
Genet Med ; 22(6): 1051-1060, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32055034

RESUMO

PURPOSE: Ciliopathies are highly heterogeneous clinical disorders of the primary cilium. We aim to characterize a large cohort of ciliopathies phenotypically and molecularly. METHODS: Detailed phenotypic and genomic analysis of patients with ciliopathies, and functional characterization of novel candidate genes. RESULTS: In this study, we describe 125 families with ciliopathies and show that deleterious variants in previously reported genes, including cryptic splicing variants, account for 87% of cases. Additionally, we further support a number of previously reported candidate genes (BBIP1, MAPKBP1, PDE6D, and WDPCP), and propose nine novel candidate genes (CCDC67, CCDC96, CCDC172, CEP295, FAM166B, LRRC34, TMEM17, TTC6, and TTC23), three of which (LRRC34, TTC6, and TTC23) are supported by functional assays that we performed on available patient-derived fibroblasts. From a phenotypic perspective, we expand the phenomenon of allelism that characterizes ciliopathies by describing novel associations including WDR19-related Stargardt disease and SCLT1- and CEP164-related Bardet-Biedl syndrome. CONCLUSION: In this cohort of phenotypically and molecularly characterized ciliopathies, we draw important lessons that inform the clinical management and the diagnostics of this class of disorders as well as their basic biology.


Assuntos
Síndrome de Bardet-Biedl , Ciliopatias , Alelos , Síndrome de Bardet-Biedl/genética , Cílios/genética , Ciliopatias/genética , Humanos , Canais de Sódio
3.
Genet Med ; 20(4): 420-427, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-28749478

RESUMO

PurposeThe application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe Mendelian disorders, has been limited.MethodsIn this study, we employed exome sequencing as a molecular autopsy tool in a cohort of 44 families with at least one death or lethal fetal malformation at any stage of in utero development. Where no DNA was available from the fetus, we performed molecular autopsy by proxy, i.e., through parental testing.ResultsPathogenic or likely pathogenic variants were identified in 22 families (50%), and variants of unknown significance were identified in further 15 families (34%). These variants were in genes known to cause embryonic or perinatal lethality (ALPL, GUSB, SLC17A5, MRPS16, THSD1, PIEZO1, and CTSA), genes known to cause Mendelian phenotypes that do not typically include embryonic lethality (INVS, FKTN, MYBPC3, COL11A2, KRIT1, ASCC1, NEB, LZTR1, TTC21B, AGT, KLHL41, GFPT1, and WDR81) and genes with no established links to human disease that we propose as novel candidates supported by embryonic lethality of their orthologs or other lines of evidence (MS4A7, SERPINA11, FCRL4, MYBPHL, PRPF19, VPS13D, KIAA1109, MOCS3, SVOPL, FEN1, HSPB11, KIF19, and EXOC3L2).ConclusionOur results suggest that molecular autopsy in pregnancy losses is a practical and high-yield alternative to traditional autopsy, and an opportunity for bringing precision medicine to the clinical practice of perinatology.


Assuntos
Autopsia , Técnicas de Diagnóstico Molecular , Autopsia/métodos , Causas de Morte , Feminino , Genes Letais , Estudos de Associação Genética , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Predisposição Genética para Doença , Humanos , Medicina de Precisão , Gravidez , Diagnóstico Pré-Natal , Sequenciamento do Exoma , Fluxo de Trabalho
5.
J Med Genet ; 53(5): 338-47, 2016 05.
Artigo em Inglês | MEDLINE | ID: mdl-26862157

RESUMO

BACKGROUND: Inherited cystic kidney disorders are a common cause of end-stage renal disease. Over 50 ciliopathy genes, which encode proteins that influence the structure and function of the primary cilia, are implicated in cystic kidney disease. METHODS: To define the phenotype and genotype of cystic kidney disease in fetuses and neonates, we correlated antenatal ultrasound examination and postnatal renal ultrasound examination with targeted exon sequencing, using a renal gene panel. A cohort of 44 families in whom antenatal renal ultrasound scanning findings in affected cases included bilateral cystic kidney disease, echogenic kidneys or enlarged kidneys was investigated. RESULTS: In this cohort, disease phenotypes were severe with 36 cases of stillbirth or perinatal death. Extra renal malformations, including encephalocele, polydactyly and heart malformations, consistent with ciliopathy phenotypes, were frequently detected. Renal gene panel testing identified causative mutations in 21 out of 34 families (62%), where patient and parental DNA was available. In the remaining 10 families, where only parental DNA was available, 7 inferred causative mutations were found. Together, mutations were found in 12 different genes with a total of 13 novel pathogenic variants, including an inferred novel variant in NEK8. Mutations in CC2D2A were the most common cause of an antenatal cystic kidney disease and a suspected ciliopathy in our cohort. CONCLUSIONS: In families with ciliopathy phenotypes, mutational analysis using a targeted renal gene panel allows a rapid molecular diagnosis and provides important information for patients, parents and their physicians.


Assuntos
Ciliopatias/metabolismo , Análise Mutacional de DNA , Feto/metabolismo , Doenças Renais Císticas/metabolismo , Mutação , Árabes/genética , Ciliopatias/genética , Proteínas do Citoesqueleto , Éxons , Feminino , Humanos , Recém-Nascido , Doenças Renais Císticas/congênito , Doenças Renais Císticas/genética , Quinases Relacionadas a NIMA/genética , Morte Perinatal , Gravidez , Proteínas/genética , Arábia Saudita , Síndrome
6.
Subst Abus ; 35(1): 12-20, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24588288

RESUMO

BACKGROUND: With rising rates of prescription drug abuse and associated overdose deaths, there is great interest in having accurate and efficient screening tools that identify nonmedical use of prescription drugs in health care settings. The authors sought to gain a better understanding of how patients interpret questions about misuse of prescription drugs, with the goal of improving the accuracy and acceptability of instruments intended for use in primary care. METHODS: A total of 27 English-speaking adult patients were recruited from an urban safety net primary care clinic to complete a cognitive interview about a 4-item screening questionnaire for tobacco, alcohol, illicit drugs, and misuse of prescription drugs. Detailed field notes were analyzed for overall comprehension of the screening items on illicit drug use and prescription drug misuse, the accuracy with which participants classified drugs into these categories, and whether the screening response correctly captured the participant's substance use behavior. RESULTS: Based on initial responses to the screening items, 6 (22%) participants screened positive for past-year prescription drug misuse, and 8 (30%) for illicit drug use. The majority (26/27) of participants correctly interpreted the item on illicit drug use, and appropriately classified drugs in this category. Eleven (41%) participants had errors in their understanding of the prescription drug misuse item. The most common error was classifying use of medications without abuse potential as nonmedical use. All cases of misunderstanding the prescription drug misuse item occurred among participants who screened negative for illicit drug use. CONCLUSIONS: The results suggest that terminology used to describe misuse of prescription medications may be misunderstood by many primary care patients, particularly those who do not use illicit drugs. Failure to improve upon the language used to describe prescription drug misuse in screening questionnaires intended for use in medical settings could potentially lead to high rates of false-positive results.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Uso Indevido de Medicamentos sob Prescrição/psicologia , Transtornos Relacionados ao Uso de Substâncias/psicologia , Adulto , Idoso , Cognição , Feminino , Humanos , Entrevista Psicológica , Masculino , Pessoa de Meia-Idade , Adulto Jovem
7.
Clin Adv Hematol Oncol ; 11(5): 291-5, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23880712

RESUMO

Due to the lack of molecular targets, triple-negative breast cancers (TNBCs) typically represent a worse prognosis compared to their hormone-positive counterparts. While neoadjuvant chemotherapy has been used for breast cancers for a long time, there is no standard chemotherapy regimen for TNBCs. Cisplatin has generally been regarded as an effective chemotherapy agent against TNBCs. However, here we present a pilot study involving the use of cisplatin in combination with oral capecitabine in the neoadjuvant setting in 16 patients with TNBC. Twelve patients were African American and 4 patients were white. Six patients completed all 4 cycles of chemotherapy, 6 patients completed 3 cycles, and 4 patients completed 2 cycles. A complete clinical response was observed in 2 patients, and 10 patients achieved partial clinical response. One patient had progressive disease, and 3 patients were lost to follow-up or taken off study. Following chemotherapy, 12 patients underwent surgery (7 patients had breast conservation, and 5 patients had a mastectomy). Ten of the 12 patients who had surgery achieved a partial pathologic response and the other 2 patients had complete pathologic response. Grade 3 nausea, vomiting, and diarrhea occurred in 7 patients; 1 patient experienced dehydration and renal failure; and 5 patients had grade 1/2 hand-foot syndrome. There were no grade 4 or 5 toxicities. The response to cisplatin-capecitabine combination chemotherapy in the neoadjuvant setting was suboptimal compared to that with single-agent cisplatin in prior studies. The toxicity profile with this combination was also worse than that of cisplatin alone. Based on our findings, we do not recommend this combination regimen in the neoadjuvant setting for TNBCs. However, future studies analyzing the use of cisplatin with other combinations are warranted.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias de Mama Triplo Negativas/tratamento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Capecitabina , Cisplatino/administração & dosagem , Desoxicitidina/administração & dosagem , Desoxicitidina/análogos & derivados , Feminino , Fluoruracila/administração & dosagem , Fluoruracila/análogos & derivados , Humanos , Terapia Neoadjuvante , Estadiamento de Neoplasias , Projetos Piloto , Resultado do Tratamento , Neoplasias de Mama Triplo Negativas/patologia
8.
Ann Saudi Med ; 43(4): 199-203, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37554025

RESUMO

BACKGROUND: Twin reversed arterial perfusion (TRAP) sequence is a rare condition that affects primarily monozygotic monochorionic twin pregnancies in which a normal twin acts as a pump (donor) for an acardiac recipient (perfuse) twin. OBJECTIVE: We report our experience over the last 13 years at a tertiary health care center. DESIGN: Descriptive, retrospective case series SETTING: Tertiary health care center PATIENTS AND METHODS: All TRAP cases managed between the years 2009 and 2022 at our Fetal Diagnosis and Therapy Center were included. Data recorded included demographic and clinical information which was used to generate descriptive data. Patients were managed by a multidisciplinary team with variable interventions. MAIN OUTCOME MEASURE: Survival of normal twin SAMPLE SIZE: Eight RESULTS: Eight pregnant women with TRAP syndrome were managed at our center during that period. One was monozygotic monochorionic and the others were monochorionic diamniotic. Median maternal age at presentation was 27 years and median gestational age at diagnosis was 23 weeks. All were diagnosed with ultrasound (US) imaging. Three were managed with bipolar ligation of the cord of the acardiac twin under general anesthesia, one US-guided (single port) and 2 fetoscopic (2 ports) with a median operative time of 39 minutes. The last five cases were managed with US-guided radiofrequency ablation (RFA) under local anesthesia, one needed 2 sessions, 1 week apart. The median duration of the RFA procedure was 23 minutes. There were no complications and all had viable normal babies born at a median of 32 weeks of gestation (6 C-section, 2 spontaneous membrane rupture). CONCLUSIONS: Acardiac twin cord ligation and RFA are feasible and safe options with excellent outcome for TRAP syndrome. RFA may be preferable owing to its less invasiveness under local anesthesia. LIMITATIONS: None, given the rarity of the disease and the study design. CONFLICT OF INTEREST: None.


Assuntos
Transfusão Feto-Fetal , Cardiopatias Congênitas , Gravidez , Feminino , Humanos , Lactente , Resultado da Gravidez , Estudos Retrospectivos , Transfusão Feto-Fetal/diagnóstico , Transfusão Feto-Fetal/cirurgia , Gravidez de Gêmeos
9.
Cureus ; 14(10): e30108, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36381760

RESUMO

Primary hypertrophic osteoarthropathy (PHO) is a rare autosomal recessive inherited multi-system disorder characterized by a triad of pachydermia, periostosis, and clubbing. PHO was revealed to be caused by the HPGD gene producing 15-prostaglandin dehydrogenase and the SLCO2A1 gene expressing one kind of prostaglandin transporter. It is primarily a benign disorder, but coexisting myelofibrosis can lead to clinically significant cytopenias. In this case report, we present the case of a 21-year-old boy with a history of transfusion-dependent anemia and a progressive increase in transfusion requirements over the course of seven years. On basis of the patient's medical history, family history, and clinical examination genetic testing was done. The patient was found to have homozygous c.664G>A (p. Gly222Arg) mutation in the SLCO2A1 gene; confirming the diagnosis of PHO.

10.
J Perinat Med ; 40(1): 51-5, 2011 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-22044007

RESUMO

OBJECTIVE: To evaluate the possible association between protease inhibitor (PI) and premature birth and low birth-weight in HIV-infected pregnancies. MATERIALS AND METHODS: Data were collected retrospectively for maternal and pregnancy characteristics, antiretroviral medication, lowest CD4 count and highest viral load during pregnancy, and pregnancy outcomes. χ(2) Analysis, Student's t-test, and multiple logistic regression analysis were performed. RESULTS: Data from 161 HIV-infected women who delivered singleton gestation were analyzed. Fifty-three received an antepartum regimen with PI, 84 received a regimen without PI, and six did not receive antepartum treatment. The mean estimated gestational age (EGA)± SD at delivery was 37.7 ± 3.2 weeks. The premature birth rate was 18.4%. No difference was detected between women receiving the antiretroviral regimen including PI and those on the regimen without PI or on no antepartum medication with regard to: EGA ± SD at delivery (37.7 ± 3.2 vs. 37.6 ± 3.1 weeks, respectively, P=0.87), rate of premature birth (14% vs. 20.6%, respectively, P=0.32) and low birth-weight (12.5% vs. 20.2%, respectively, P=0.25). In multiple logistic regression analysis, PI was not associated with premature birth or low birth-weight. CONCLUSION: Women receiving antiretroviral therapy with PI have a similar rate of premature birth and low birth-weight as women receiving antiretroviral therapy without PI or on no medication.


Assuntos
Terapia Antirretroviral de Alta Atividade , Peso ao Nascer/efeitos dos fármacos , Infecções por HIV/tratamento farmacológico , Complicações Infecciosas na Gravidez/tratamento farmacológico , Nascimento Prematuro/induzido quimicamente , Inibidores de Proteases/efeitos adversos , Adulto , Feminino , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Gravidez , Estudos Retrospectivos , Adulto Jovem
11.
Ann Saudi Med ; 41(6): 313-317, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34873935

RESUMO

BACKGROUND: Intravascular intrauterine transfusion (IUT) is considered a safe procedure, but complications still occur, including fatalities. OBJECTIVE: Review the outcomes of Rh alloimmunization, including indications and possible complications. DESIGN: Retrospective cohort (medical record review). SETTING: Tertiary care center. PATIENTS AND METHODS: We retrieved the records for all mothers who had an IUT for Rh alloimmunization between January 2009 and August 2019. We collected data on complications, post-transfusion hemoglobin and antibody combinations. MAIN OUTCOME MEASURE: Complications of IUT. SAMPLE SIZE: 119 mothers with 154 fetuses (154 different pregnancies). RESULTS: The 154 fetuses had 560 intrauterine transfusions. The median pre-IUT hemoglobin was a median of 8.0 g/dL while the median post-IUT hemoglobin 16 g/dL. Immediate procedure-related complications included fetal bradycardia in 2.7%, significant bleeding from the cord puncture site (for more than 2 minutes in 0.9%), and contractions in 0.9%. Eight (5.2%) were delivered by cesarean delivery due to IUT-specific complications such as post-procedure fetal bradycardia. Intrauterine fetal death complicated 8.4% of the pregnancies (13 fetuses). Phototherapy was required in 76 (49.4%), postnatal blood transfusions in 17 (11%), and exchange transfusion in 11 (7.1%). Neonatal death occurred 8 (5.2%). Data were insufficient to assess associations of complications with antibody combinations. CONCLUSIONS: Intrauterine transfusion is an effective treatment with high survival rates (around 90% for cases of Rh alloimmunization). LIMITATIONS: Case series. CONFLICT OF INTEREST: None.


Assuntos
Transfusão de Sangue Intrauterina , Morte Fetal , Transfusão de Sangue , Transfusão de Sangue Intrauterina/efeitos adversos , Estudos de Coortes , Feminino , Humanos , Recém-Nascido , Gravidez , Estudos Retrospectivos
12.
J Coll Physicians Surg Pak ; 20(2): 112-6, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20378039

RESUMO

OBJECTIVE: To determine the frequency of Plasmodium (P.) vivax and P. falciparum in cases of acute febrile illness, and the haematological parameters in patients suffering with acute malaria. STUDY DESIGN: An observational study. PLACE AND DURATION OF STUDY: Baqai Medical University, Fatima Hospital Laboratory, Karachi, from January 2006 to December 2007. METHODOLOGY: Patients with acute febrile illness were evaluated. Complete blood count and malarial parasite were performed. Descriptive statistics of haematological parameters was computed. Mean and standard deviations (SD) were calculated; p-value was determined using test of proportions on SPSS. RESULTS: Out of 3344 patients, 392 (11.72%) were proved as suffering from malaria with male to female ratio of 1.36. The age ranged from 1 month to 94 years. One hundred and seventy six (42.6%) had P. falciparum, 204 (52%) had P. vivax, and 21 (5.4%) had mixed infection. Haemoglobin varied from 1.10 g/dl -17.10 g/dl, (mean 9.83 + 3.09 g/dl). TLC ranged from 1.30 x 103/ul - 48.50 x 103/ul, (mean 6.80 + 5.15 x 103/ul. The platelet counts ranged from 10.0 x 103/ul - 850 x 103/ul, (mean 106 + 90.98 x 103/ul). Thrombocytopenia was observed in 70%, platelet count was significantly lower in patients with mixed infection as compared to patients with P. falciparum and P. vivax (p=.017). CONCLUSION: The frequency of malaria was 11.72%. Thrombocytopenia was the most common finding. In none of the patients platelet counts dropped below the critical levels of 10 x 103/microl.


Assuntos
Surtos de Doenças/estatística & dados numéricos , Malária Falciparum/sangue , Malária Vivax/sangue , Plasmodium falciparum/isolamento & purificação , Plasmodium vivax/isolamento & purificação , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Animais , Criança , Pré-Escolar , Coagulação Intravascular Disseminada/epidemiologia , Coagulação Intravascular Disseminada/etiologia , Feminino , Hemoglobinas/análise , Humanos , Lactente , Leucócitos , Malária Falciparum/complicações , Malária Falciparum/epidemiologia , Malária Vivax/complicações , Malária Vivax/epidemiologia , Masculino , Pessoa de Meia-Idade , Paquistão/epidemiologia , Contagem de Plaquetas , Trombocitopenia/sangue , Trombocitopenia/diagnóstico , Trombocitopenia/epidemiologia , Trombocitopenia/etiologia , Adulto Jovem
13.
JIMD Rep ; 38: 41-44, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-28488182

RESUMO

Patients with succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency and 3-hydroxy-3-methylglutaryl (HMG)-CoA lyase deficiency are at increased risk of developing metabolic acidosis and hypoglycemia during pregnancy, delivery, and postpartum period. This can be fatal if not treated appropriately. Pregnancy in such patients should be managed in a specialist center by a multidisciplinary team including metabolic physician, high-risk obstetrician, and metabolic dietician. We report two pregnancies in women with SCOT deficiency and HMG-CoA lyase deficiency, which were successfully managed at this tertiary care center. The patient with SCOT deficiency had recurrent ketoacidosis due to severe nausea and vomiting requiring several hospital admissions during pregnancy, while the patient with HMG-CoA lyase deficiency remained metabolically stable. Both patients, nevertheless, had normal delivery of live-born infants and had uneventful postpartum period.

14.
Circulation ; 106(5): 585-91, 2002 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-12147541

RESUMO

BACKGROUND: Although the prenatal diagnosis of most fetal structural heart defects and dysrhythmias has been described, there is a paucity of information about cardiomyopathies (CMs) in prenatal life. METHODS AND RESULTS: To determine the pathogenic mechanisms, hemodynamic findings, and outcome of fetal CM, we reviewed the fetal echocardiograms and perinatal histories of 55 affected fetuses. Dilated CM was diagnosed in 22 cases, including 2 with congenital infections, 5 familial cases, 6 with endocardial fibroelastosis related to maternal anti-Ro/La antibodies, and 9 idiopathic cases. Thirty-three had hypertrophic CM, 7 associated with maternal diabetes, 2 with Noonan's syndrome, 2 with alpha-thalassemia, 18 with twin-twin transfusion syndrome, 1 with familial hypertrophy, and 3 with idiopathic hypertrophy. Systolic dysfunction was present in all cases of dilated CM and 15 cases of hypertrophic CM. Diastolic dysfunction was present in 19 of 30 fetuses with assessment of diastolic function parameters. Significant mitral or tricuspid valve regurgitation was seen in 32 cases. Eight fetuses were hydropic and 23 had signs of early hydrops. Seven pregnancies were terminated. Of 46 continued pregnancies with follow-up, 29 (63%) died perinatally. The presence of systolic dysfunction, diastolic dysfunction, and significant atrioventricular valve regurgitation were identified as risk factors for mortality. By multiple logistic regression, diastolic dysfunction was associated with an 8-fold increased risk relative to the other parameters. CONCLUSIONS: Fetal CM has a broad spectrum of intrinsic and extrinsic causes. A poor outcome is observed in many affected fetuses. Diastolic dysfunction in fetal CM is associated with the highest risk of mortality.


Assuntos
Cardiomiopatias/etiologia , Cardiomiopatias/fisiopatologia , Doenças Fetais/etiologia , Doenças Fetais/fisiopatologia , Cardiomiopatias/classificação , Cardiomiopatias/diagnóstico por imagem , Ecocardiografia Doppler , Feminino , Doenças Fetais/diagnóstico por imagem , Idade Gestacional , Hemodinâmica , Humanos , Modelos Logísticos , Gravidez , Gravidez em Diabéticas , Prognóstico , Risco , Fatores de Risco , Ultrassonografia Pré-Natal
16.
J Subst Abuse Treat ; 47(1): 93-101, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24629887

RESUMO

The time required to conduct drug and alcohol screening has been a major barrier to its implementation in mainstream healthcare settings. Because patient self-administered tools are potentially more efficient, we translated the Alcohol, Smoking and Substance Involvement Screening Test (ASSIST) into an audio guided computer assisted self interview (ACASI) format. This study reports on the test-retest reliability of the ACASI ASSIST in an adult primary care population. Adult primary care patients completed the ACASI ASSIST, in English or Spanish, twice within a 1-4 week period. Among the 101 participants, there were no significant differences between test administrations in detecting moderate to high risk use for tobacco, alcohol, or any other drug class. Substance risk scores from the two administrations had excellent concordance (90-98%) and high correlation (ICC 0.90-0.97) for tobacco, alcohol, and drugs. The ACASI ASSIST has good test-retest reliability, and warrants additional study to evaluate its validity for detecting unhealthy substance use.


Assuntos
Alcoolismo/diagnóstico , Fumar/epidemiologia , Transtornos Relacionados ao Uso de Substâncias/diagnóstico , Adulto , Alcoolismo/epidemiologia , Feminino , Humanos , Masculino , Programas de Rastreamento/métodos , Pessoa de Meia-Idade , Cidade de Nova Iorque/epidemiologia , Atenção Primária à Saúde/métodos , Reprodutibilidade dos Testes , Fatores de Risco , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Inquéritos e Questionários , Adulto Jovem
17.
Clin Child Psychol Psychiatry ; 16(4): 575-98, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21565872

RESUMO

The regulation of pain and other emotions is a developmental process that takes place in the context of attachment relationships. Children with chronic, medically unexplained pain struggle to accurately identify, communicate and regulate negative body states, and to connect these body states to their day-to-day experience. This article describes an individual intervention - one component of a multimodal treatment programme - whose aim is to help children find skills to manage their pain. The intervention incorporates ideas and practices from several theoretical models - the dynamic-maturational model of attachment, cognitive-behavioural theories, narrative therapy, art therapy, sensorimotor approaches -pragmatically selected and adapted to help children presenting to our Chronic Pain Service achieve good clinical outcomes. At the outset we assess the child's capacity to identify, regulate and communicate positive and negative body states, and tailor our individual intervention so as to extend each child's proximal level of development. We initially focus on the body in an effort to equip the child with a non-verbal, image-based language for identifying and communicating pain and other negative body states. Once the child has developed a non-verbal way of knowing her body, a range of cognitive-behavioural, narrative and other strategies are introduced. The intervention aims to increase the child's emotional functioning: her skill in identifying, symbolically representing, communicating and managing pain and other negative body states.


Assuntos
Imagem Corporal , Dor Crônica/psicologia , Dor Crônica/terapia , Psicoterapia/métodos , Adolescente , Criança , Desenvolvimento Infantil/fisiologia , Feminino , Humanos , Masculino
18.
Harv Rev Psychiatry ; 16(2): 136-50, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18415885

RESUMO

Pain is a complex phenomenon: a sensory experience originating in traumatized tissues; an emotional (affective) experience that signals danger in the internal (body) or external environment; and a "disposition to act" that results either in "action" that prioritizes escape or in "inhibition of action" to minimize injury or facilitate healing. Recent advances in our understanding of the affective components of pain have significant implications for the treatment of chronic pain in children and adolescents. This article describes a chronic pain clinic for children and adolescents developed by the pain service of a large pediatric teaching hospital. Pain is conceptualized and managed in terms of multiple, interrelating systems (the body level, the psychological level, and the social level). This model of care is illustrated with reference to the management of two cases of children with chronic pain and significant functional impairment. A brief overview of the care utilization of 62 children referred to the Chronic Pain Clinic is also provided, with the clinical characteristics of 40 children with somatoform pain disorder (SPD) being described in more detail. Of 28 children with SPD treated with our systems intervention, 82% reported significant reductions in pain intensity, 71% returned to school full time, and 29% part time. An advantage of this integrated, family-based assessment and treatment approach is the overarching emphasis on identifying the contribution of each system to the child's subjective experience of pain, thereby avoiding the deleterious polarization of the pain as either physical or psychogenic in origin.


Assuntos
Clínicas de Dor , Manejo da Dor , Transtornos Somatoformes/terapia , Adolescente , Transtornos de Ansiedade/diagnóstico , Transtornos de Ansiedade/psicologia , Transtornos de Ansiedade/terapia , Criança , Pré-Escolar , Doença Crônica , Terapia Combinada , Diagnóstico Diferencial , Emoções , Relações Familiares , Terapia Familiar , Feminino , Humanos , Acontecimentos que Mudam a Vida , Dor/psicologia , Clínicas de Dor/estatística & dados numéricos , Pancreatite/diagnóstico , Pancreatite/psicologia , Pancreatite/terapia , Equipe de Assistência ao Paciente , Determinação da Personalidade , Recidiva , Encaminhamento e Consulta/estatística & dados numéricos , Distrofia Simpática Reflexa/diagnóstico , Distrofia Simpática Reflexa/psicologia , Distrofia Simpática Reflexa/terapia , Papel do Doente , Transtornos Somatoformes/diagnóstico , Transtornos Somatoformes/psicologia , Revisão da Utilização de Recursos de Saúde
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA