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1.
J Community Health ; 47(1): 9-16, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34232452

RESUMO

Human papillomavirus (HPV) is the most common sexually transmitted infection in the US. HPV vaccine is a viable source of prevention against high-risk strains that are likely to cause cancer. However, particularly among racial and ethnic minorities such as Chinese Americans, HPV vaccination rates are suboptimal. The goal of this study was to evaluate the effect of a culturally tailored intervention on HPV vaccine uptake in Chinese Americans. We designed and implemented a multilevel longitudinal pilot study to examine the efficacy of the HPV intervention among Chinese American parents/guardians. We recruited 180 participants from federally qualified health center and community-based clinics that serve predominantly low-income Chinese Americans in Philadelphia. Participants were randomized into an intervention group (n = 110) or a control group (n = 70). The intervention group received an HPV specific intervention, while the control group received a general health intervention. The primary outcome was medical record-confirmed receipt of first shot and completion of HPV vaccine within six months of receiving the interventions. Repeated measure ANOVA was utilized to examine the intervention effect on knowledge between intervention and control groups. Knowledge differed significantly, with participants in the intervention group demonstrating the greatest improvement following the intervention. A multivariable logistic regression was used to examine the association between HPV vaccine initiation and study group assignment. There was a significant effect of provider recommendation, parent's gender, and health insurance status on HPV vaccine uptake. This study demonstrated positive impact of a culturally tailored intervention on HPV vaccination uptake among Chinese Americans.


Assuntos
Infecções por Papillomavirus , Vacinas contra Papillomavirus , Adolescente , Asiático , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Infecções por Papillomavirus/prevenção & controle , Vacinas contra Papillomavirus/uso terapêutico , Projetos Piloto , Vacinação
2.
Int J Dent Hyg ; 17(4): 350-358, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31278830

RESUMO

OBJECTIVE: To assess the oral health-related quality of life among Hong Kong preschool children with severe early childhood caries. METHODS: A total of 315 Hong Kong preschool children diagnosed with severe early childhood caries (S-ECC) were recruited. Their caries and plaque status were evaluated. Their parents were asked to complete the Early Childhood Oral Health Impact Scale (ECHOIS) and a sociodemographic background questionnaire. RESULTS: There was a 98.7% response rate. The mean age was 4.7 ± 0.8 years. The mean decayed, missing and filled teeth (dmft) score was 10.2 ± 4.5. Almost all the children (98.7%) had decayed teeth. More than half of the children (61.4%) had a visible plaque index (VPI) score of above 90%. About one quarter (28.9%) were experiencing symptoms of pain. The dmft score of the child was significantly associated with the ECOHIS child impact, child function, family impact and family distress domains (P < .001). The presence of pain was significantly associated with increased ECOHIS child and family impact scores (P < .001). In the multiple regression analyses, the dmft score and presence of pain showed a significant association with the ECOHIS scores (P < .001). CONCLUSION: The OHRQoL of children with S-ECC was worsened with the presence of pain and severity of the disease. More measures need to be placed to decrease the prevalence of children with S-ECC.


Assuntos
Cárie Dentária , Saúde Bucal , Criança , Pré-Escolar , Índice CPO , Hong Kong , Humanos , Qualidade de Vida , Inquéritos e Questionários
3.
J Pediatr Surg ; 59(3): 368-371, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37973421

RESUMO

OBJECTIVES: This study evaluates the safety and efficacy of thoracoscopic lobectomy for congenital lung lesions in infants less then 4 months of age. MATERIALS AND METHODS: From January 1997 to October 2022, 194 patients under 4 months of age and weight less then 5.6 Kg underwent video-assisted thoracoscopic lobe resection for CPAM, Sequestration, and CLE. All procedures were performed by or under the direct guidance of a single surgeon. RESULTS: 195 of 196 procedures were completed thoracoscopically. Operative times ranged from 25 min to 195 min (average, 82 min). There were 50 upper, 8 middle, and 136 lower lobe resections. There were 4 intraoperative complications (2.1 %), of which 1 (0.5 %) required conversion to an open thoracotomy. The postoperative complication rate was 3.1 % Hospital length of stay ranged from 1 to 8 days (Avg 1.8) for those admitted for surgery. There were no conversions to open or blood transfusions in the last 15 years. CONCLUSIONS: Thoracoscopic lung resection congenital lung lesions in infants is a safe and efficacious technique and avoids the morbidity of a thoracotomy. Early intervention allows surgery before clinical infections or symptoms occur. Newer instrumentation and techniques allow the operation to be safely performed in the first few months of life with shorter operative times, fewer complications, and decreased hospital stays. The minimal morbidity of this procedure should be considered when considering non-operative management of these patients.


Assuntos
Neoplasias Pulmonares , Pneumonectomia , Lactente , Humanos , Pneumonectomia/métodos , Cirurgia Torácica Vídeoassistida/métodos , Pulmão/cirurgia , Toracoscopia/métodos , Tórax , Artéria Pulmonar , Tempo de Internação , Estudos Retrospectivos , Resultado do Tratamento , Neoplasias Pulmonares/cirurgia
4.
Can J Surg ; 55(4): S171-7, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22854144

RESUMO

BACKGROUND: Identification of attributes of residency training that predict competency would improve surgical education. We hypothesized that case experience during residency would correlate with self-reported competency of recent graduates. METHODS: Aggregate case log data of residents enrolled in 2 general surgery programs were collected over a 12-month period and stratified into Surgical Council on Resident Education (SCORE) categories. We surveyed recent (< 5 yr) residency graduates on procedural competency. Resident case volumes were correlated with survey responses by SCORE category. RESULTS: In all, 75 residents performed 11 715 operations, which were distributed by SCORE category as follows: essential-common (EC) 9935 (84.8%), essential-uncommon (EU) 889 (7.6%) and complex 891 (7.6%). Alimentary tract procedures were the most commonly performed EC (2386, 24%) and EU (504, 56.7%) procedures. The least common EC procedure was plastic surgery (4, 0.04%), and the least common EU procedure was abdomen-spleen (1, 0.1%). The questionnaire response rate was 45%. For EC procedures, self-reported competency was highest in skin and soft tissue, thoracic and head and neck (each 100%) and lowest in vascular-venous (54%), whereas for EU procedures it was highest in abdomen-general (100%) and lowest in vascular-arterial (62%). The correlation between case volume and self-reported competency was poor (R = 0.2 for EC procedures). CONCLUSION: Self-reported competency correlates poorly with operative case experience during residency. Other curriculum factors, including specific rotations and timing, balance between inpatient and outpatient surgical experience and competition for cases, may contribute to procedural competency acquisition during residency.


Assuntos
Competência Clínica , Cirurgia Geral/educação , Internato e Residência/organização & administração , Autoavaliação (Psicologia) , Carga de Trabalho/estatística & dados numéricos , Adulto , Colúmbia Britânica , Currículo , Educação de Pós-Graduação em Medicina/organização & administração , Feminino , Humanos , Masculino , Relatório de Pesquisa , Fatores de Tempo
5.
Semin Pediatr Surg ; 28(3): 178-182, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31171154

RESUMO

Growing adoption of thoracoscopy by pediatric surgeons has resulted in increasingly complex operations being performed. Although common complications of these procedures have decreased with experience, surgeons are still at risk to fall into error traps where routine practice in uncommon situations results in unanticipated complications. A background culture of safety that rewards multidisciplinary communication, teamwork, openness and standardization of care can assist surgeons to recognize, address and report error traps when they arise. This article serves to encourage a culture of safety and raise awareness of error traps in pediatric thoracoscopy to minimize potential harm and improve quality of care.


Assuntos
Complicações Intraoperatórias/prevenção & controle , Erros Médicos , Segurança do Paciente/normas , Toracoscopia/normas , Criança , Pré-Escolar , Humanos , Lactente , Complicações Intraoperatórias/etiologia , Toracoscopia/efeitos adversos , Toracoscopia/métodos
6.
Am J Health Behav ; 43(5): 994-1005, 2019 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-31439104

RESUMO

Objectives: Successful human papilloma virus (HPV) vaccine delivery depends heavily on parents' attitudes, perceptions, and willingness to have their children vaccinated. In this study, we assessed parental knowledge, attitudes, and beliefs about the HPV vaccine, and examine factors associated with willingness to have eligible children receive HPV vaccination. Methods: From a community health center serving Chinese members in the Greater Philadelphia area, 110 Chinese-American parents with at least one child aged 11 to 18 who had not received HPV vaccine were recruited. Data were collected in face-to-face interviews. Results: Chinese-American parents generally lacked knowledge on HPV and the HPV vaccine, yet had a moderately high level of intention to vaccinate their children against HPV. Ordinal logistic regression results indicated that knowledge, whether or not to involve children, doctor influence, and time lived in the United States were significantly and independently related to parental intention to have their children vaccinated against HPV. Conclusion: Interventions should make efforts to raise awareness of HPV and promote vaccination in doctors' offices. The lower level of parental intention among relatively recent immigrants indicated the necessity to target this population in public health campaigns and intervention efforts.


Assuntos
Asiático/psicologia , Intenção , Vacinas contra Papillomavirus/uso terapêutico , Pais/psicologia , Adolescente , Adulto , Asiático/estatística & dados numéricos , Criança , China/etnologia , Feminino , Conhecimentos, Atitudes e Prática em Saúde/etnologia , Humanos , Entrevistas como Assunto , Modelos Logísticos , Masculino , Infecções por Papillomavirus/prevenção & controle , Philadelphia , Fatores Socioeconômicos
7.
J Laparoendosc Adv Surg Tech A ; 27(3): 306-310, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28085557

RESUMO

PURPOSE: To evaluate two-incision laparoscopic cholecystectomy (2I-LC) in children, and compare outcomes with four-port laparoscopic cholecystectomy (4P-LC). METHODS: A retrospective review was performed on children (≤21 years) with gallbladder disease treated with 2I-LC or 4P-LC between February 2010 and February 2016. 2I-LC is performed using two 5-mm ports and a 2-mm endoscopic grasper within a 12-mm umbilical incision, and a 3-mm subxiphoid port for dissection. Demographic, diagnostic, operative, and outcome data were recorded, and the two groups were compared with chi-squared, Fisher, and t-tests. Patients requiring conversion from 2I-LC to 4P-LC were examined to determine factors predicting the need for additional ports. RESULTS: Three hundred eighty-nine laparoscopic cholecystectomies were performed (2I-LC 72.0%, 4P-LC 19.0%). Body mass index (BMI) was greater in the 4P-LC group. 2I-LC was more commonly performed for biliary dyskinesia, but not biliary colic, acute cholecystitis, choledocholithiasis, and gallstone pancreatitis. Operative time was greater in 4P-LC. There were 6 wound infections (2I-LC 1.8%, 4P-LC 1.5%), 1 common bile duct injury (2I-LC 0.4%, 4P-LC 0.0%), and 1 small bowel injury (2I-LC 0.0%, 4P-LC 1.5%). 2.4% of 2I-LC required conversion to 4P-LC, with BMI and operative time greater than the 2I-LC group, but not different from 4P-LC with no complications. CONCLUSIONS: 2I-LC is a safe alternative to 4P-LC for pediatric gallbladder disease, allowing for traction and countertraction to expose the critical view. Operative time was longer in the 4P-LC group, likely secondary to selection bias with higher BMI and preoperative diagnosis of gallstone disease. Overweight patients are more likely to require additional ports.


Assuntos
Colecistectomia Laparoscópica/métodos , Doenças da Vesícula Biliar/cirurgia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
8.
J Laparoendosc Adv Surg Tech A ; 27(8): 845-850, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28350202

RESUMO

PURPOSE: To determine the outcomes of laparoscopic cholecystectomy as a treatment for biliary dyskinesia in children. METHODS: With ethics approval, a retrospective chart review was performed on children (<21 years) at a single center diagnosed with biliary dyskinesia (defined as gallbladder ejection fraction [EF] <35% and/or pain with cholecystokinin [CCK] on cholescintigraphy, in the absence of gallstones or cholecystitis on ultrasound) and treated with laparoscopic cholecystectomy between March 2010 and February 2016. Demographic, medical history, diagnostic imaging, pathology, and outcome data were collected and analyzed based on degree of symptom resolution. RESULTS: Laparoscopic cholecystectomy was performed in 215 children with biliary dyskinesia (156/215 [72.6%] female, age 13.8 ± 3.4 years, body mass index [BMI] 22.3 ± 6.3 kg/m2). 181/206 (87.9%) had EF <35%. CCK reproduced symptoms in 149/177 (84.2%). 34/215 (15.8%) were lost to follow-up. Median follow-up time was 2.7 weeks. Pain improved in 162/181 (89.5%). Chronic cholecystitis was found in 183/213 (85.9%) and unexpected cholelithiasis in 4/213 (1.9%) on pathology. Postoperatively, 6/181 (3.3%) had wound infections and 8/181 (4.4%) required common bile duct stents for the following indications: 6 sphincter of Oddi dysfunction, 1 choledocholithiasis, and 1 stricture. Virgin abdomen (odds ratio [OR] 4.03, confidence interval [95% CI] 1.12-14.53, P = .0460) and follow-up <6 months (OR 7.35, 95% CI 2.68-20.21, P = .0002) were associated with better outcomes. CONCLUSIONS: Laparoscopic cholecystectomy is safe and effective in symptom resolution for biliary dyskinesia in children. Virgin abdomen and follow-up <6 months were associated with better outcomes. Prospective long-term studies comparing surgical and nonoperative management of biliary dyskinesia are required to determine the utility of cholecystectomy.


Assuntos
Discinesia Biliar/cirurgia , Colecistectomia Laparoscópica/métodos , Adolescente , Análise de Variância , Criança , Coledocolitíase/cirurgia , Feminino , Humanos , Masculino , Análise de Regressão , Estudos Retrospectivos , Fatores de Risco
9.
PLoS One ; 12(7): e0181453, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28738080

RESUMO

OBJECTIVE: To determine the effects of exogenous glucagon-like peptide-2 (GLP-2), with or without massive distal bowel resection, on adaptation of jejunal mucosa, enteric neurons, gut hormones and tissue reserves in rats. BACKGROUND: GLP-2 is a gut hormone known to be trophic for small bowel mucosa, and to mimic intestinal adaptation in short bowel syndrome (SBS). However, the effects of exogenous GLP-2 and SBS on enteric neurons are unclear. METHODS: Sprague Dawley rats were randomized to four treatments: Transected Bowel (TB) (n = 8), TB + GLP-2 (2.5 nmol/kg/h, n = 8), SBS (n = 5), or SBS + GLP-2 (2.5 nmol/kg/h, n = 9). SBS groups underwent a 60% jejunoileal resection with cecectomy and jejunocolic anastomosis. All rats were maintained on parenteral nutrition for 7 d. Parameters measured included gut morphometry, qPCR for hexose transporter (SGLT-1, GLUT-2, GLUT-5) and GLP-2 receptor mRNA, whole mount immunohistochemistry for neurons (HuC/D, VIP, nNOS), plasma glucose, gut hormones, and body composition. RESULTS: Resection increased the proportion of nNOS immunopositive myenteric neurons, intestinal muscularis propria thickness and crypt cell proliferation, which were not recapitulated by GLP-2 therapy. Exogenous GLP-2 increased jejunal mucosal surface area without affecting enteric VIP or nNOS neuronal immunopositivity, attenuated resection-induced reductions in jejunal hexose transporter abundance (SGLT-1, GLUT-2), increased plasma amylin and decreased peptide YY concentrations. Exogenous GLP-2 attenuated resection-induced increases in blood glucose and body fat loss. CONCLUSIONS: Exogenous GLP-2 stimulates jejunal adaptation independent of enteric neuronal VIP or nNOS changes, and has divergent effects on plasma amylin and peptide YY concentrations. The novel ability of exogenous GLP-2 to modulate resection-induced changes in peripheral glucose and lipid reserves may be important in understanding the whole-body response following intestinal resection, and is worthy of further study.


Assuntos
Adaptação Fisiológica/efeitos dos fármacos , Peptídeo 2 Semelhante ao Glucagon/farmacocinética , Mucosa Intestinal/efeitos dos fármacos , Animais , Procedimentos Cirúrgicos do Sistema Digestório/métodos , Modelos Animais de Doenças , Peptídeo 2 Semelhante ao Glucagon/metabolismo , Mucosa Intestinal/metabolismo , Jejuno/efeitos dos fármacos , Jejuno/metabolismo , Masculino , Nutrição Parenteral/métodos , Nutrição Parenteral Total/métodos , Ratos , Ratos Sprague-Dawley , Síndrome do Intestino Curto/metabolismo
10.
Colloids Surf B Biointerfaces ; 157: 174-181, 2017 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-28586730

RESUMO

We report on the use of organosilica shells to couple gold nanorods to functional peptides and modulate their physiochemical and biological profiles. In particular, we focus on the case of cell penetrating peptides, which are used to load tumor-tropic macrophages and implement an innovative drug delivery system for photothermal and photoacoustic applications. The presence of organosilica exerts subtle effects on multiple parameters of the particles, including their size, shape, electrokinetic potential, photostability, kinetics of endocytic uptake and cytotoxicity, which are investigated by the interplay of colorimetric methods and digital holographic microscopy. As a rule of thumb, as the thickness of organosilica increases from none to ∼30nm, we find an improvement of the photophysical performances at the expense of a deterioration of the biological parameters. Therefore, detailed engineering of the particles for a certain application will require a careful trade-off between photophysical and biological specifications.


Assuntos
Ouro/química , Nanotubos/química , Compostos de Organossilício/química , Linhagem Celular , Sistemas de Liberação de Medicamentos , Humanos , Macrófagos/metabolismo , Compostos de Organossilício/metabolismo
11.
BMJ Open ; 7(8): e015721, 2017 Aug 11.
Artigo em Inglês | MEDLINE | ID: mdl-28801406

RESUMO

OBJECTIVES: Despite growing recognition of the importance of speaking up to protect patient safety in critical care, little research has been performed in this area in an intensive care unit (ICU) context. This study explored the communication openness perceptions of Chinese doctors and nurses and identified their perceptions of issues in ICU communication, their reasons for speaking up and the possible factors and strategies involved in promoting the practice of speaking up. DESIGN: A mixed-methods design with quantitative and sequential qualitative components was used. SETTING AND PARTICIPANTS: Eighty ICU staff members from a large public hospital in Hong Kong completed a questionnaire regarding their perceptions of communication openness. Ten clinicians whose survey responses indicated support for open communication were then interviewed about their speak-up practices. RESULTS: The participating ICU staff members had similar perceptions of their openness to communication. However, the doctors responded more positively than the nurses to many aspects of communication openness. The two groups also had different perceptions of speaking up. The interviewed ICU staff members who indicated a high level of communication openness reported that their primary reasons for speaking up were to seek and clarify information, which was achieved by asking questions. Other factors perceived to influence the motivation to speak up included seniority, relationships and familiarity with patient cases. CONCLUSIONS: Creating an atmosphere of safety and equality in which team members feel confident in expressing their personal views without fear of reprisal or embarrassment is necessary to encourage ICU staff members, regardless of their position, to speak up. Because harmony and saving face is valued in Chinese culture, training nurses and doctors to speak up by focusing on human factors and values rather than simply addressing conflict management is desirable in this context.


Assuntos
Atitude do Pessoal de Saúde , Comunicação , Comunicação Interdisciplinar , Cultura Organizacional , Segurança do Paciente , Estudos Transversais , Feminino , Hong Kong , Humanos , Unidades de Terapia Intensiva/organização & administração , Masculino , Pessoa de Meia-Idade , Enfermeiras e Enfermeiros , Médicos , Pesquisa Qualitativa , Inquéritos e Questionários
12.
ChemSusChem ; 8(1): 184-91, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25410150

RESUMO

Some inexpensive and commercially available secondary amines reversibly react with CO2 at room temperature and ambient pressure to yield carbonated species in the liquid phase in the absence of any additional solvent. These solvent-free absorbents have a high CO2 capture capacity (0.63-0.65 mol CO2 /mol amine) at 1.0 bar (=100 kPa), combined with low-temperature reversibility at ambient pressure. (13) C NMR spectroscopy analysis identified the carbonated species as the carbamate salts and unexpected carbamic acids. These absorbents were used for CO2 (15 and 40 % in air) capture in continuous cycles of absorption-desorption carried out in packed columns, yielding an absorption efficiency of up to 98.5 % at absorption temperatures of 40-45 °C and desorption temperatures of 70-85 °C at ambient pressure. The absence of any parasitic solvent that requires to be heated and stability towards moisture and heating could result in some of these solvent-free absorbents being a viable alternative to aqueous amines for CO2 chemical capture.


Assuntos
Absorção Fisico-Química , Dióxido de Carbono/química , Dióxido de Carbono/isolamento & purificação , Aminas/química
13.
Syst Rev ; 4: 120, 2015 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-26399232

RESUMO

BACKGROUND: Fine needle aspiration biopsy (FNAB) is an accurate test commonly used to determine whether thyroid nodules are malignant in adults. However, less is known about its diagnostic accuracy for this purpose in children, where conduct of FNAB is less frequent, more technically challenging, and pre-test probabilities of malignancy are often higher. The purpose of this systematic review is to evaluate the diagnostic accuracy of FNAB for the detection of malignancy in pediatric thyroid nodules. METHODS: We will search electronic bibliographic databases (MEDLINE, EMBASE, the Cochrane Library, and Evidence-Based Medicine) from their date of inception, reference lists of included articles, proceedings from relevant conferences, and the table of contents of the Journal of Pediatric Surgery (January 2007-present). Two reviewers will independently screen titles and abstracts and identify diagnostic accuracy studies involving FNAB of the thyroid in children. We will include studies comparing FNAB to a reference standard of surgical histopathology or clinical follow-up for detection of malignancy in pediatric thyroid nodules. Two investigators will independently extract data and assess risk of bias using the Quality of Diagnostic Accuracy Studies-II tool. Pooled estimates of sensitivity, specificity, and positive and negative likelihood ratios will be calculated using bivariate random-effects and hierarchical summary receiver operating characteristic models. In the presence of between-study heterogeneity, we will conduct stratified meta-analyses and meta-regression to determine whether diagnostic accuracy estimates vary by country of origin, use of ultrasound guidance during FNAB, qualifications of the individuals performing/interpreting FNAB, adherence to the Bethesda criteria for cytology classification, length of clinical follow-up, timing of data collection, patient selection methods, and presence of verification bias. DISCUSSION: This meta-analysis will determine the diagnostic accuracy of FNAB for detection of malignancy in pediatric thyroid nodules and explore whether heterogeneity observed across studies may be explained by variations in patient population, FNAB technique or interpretation, and/or study-level risks of bias. This will be the first study to determine the accuracy of Bethesda cytological classification levels of FNAB (benign, atypical, follicular, suspicious, malignant). We expect that our results will help in guiding clinical decision-making in children with thyroid nodules. SYSTEMATIC REVIEW REGISTRATION: PROSPERO No. CRD42014007140.


Assuntos
Biópsia por Agulha Fina/métodos , Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/diagnóstico , Nódulo da Glândula Tireoide/diagnóstico , Adolescente , Biópsia por Agulha Fina/normas , Criança , Pré-Escolar , Protocolos Clínicos , Humanos , Lactente , Projetos de Pesquisa , Revisões Sistemáticas como Assunto
14.
Hum Mutat ; 20(3): 189-96, 2002 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-12203991

RESUMO

All reported mutations in the choroideremia (CHM) gene result in the truncation or complete absence of Rab escort protein 1 (REP1). Molecular analysis was carried out on 57 families diagnosed with CHM. Confirmation of the clinical diagnosis is important as end-stage CHM may be clinically similar to the end stages of other retinal degenerative diseases such as RP. The primary means of confirming the diagnosis of CHM is to sequence all 15 exons. An alternative method involves detection of the REP1 protein, as described in MacDonald et al. [1998]. A monoclonal antibody to REP1 does not detect truncated REP1 by immunoblot analysis, presumably due to instability and subsequent degradation of the truncated protein. This analysis provides relatively fast confirmation of the diagnosis, however, protein samples are not always available and are susceptible to degradation, affecting the accurate interpretation of results. CHM gene mutations were found in 54 of 57 families studied. The majority of mutations (>42%) were transitions and transversions. Complete deletions of the CHM gene and deletion/insertion mutations each accounted for almost 4% of the total, while over 9% had large intragenic and other partial deletions. Almost 28% of the mutations were deletions of fewer than 5 base pairs (bp) and almost 13% were splice site mutations. Despite the fact that mutations are found throughout the gene with no common mutation for the disorder, identical mutations have been characterized in unrelated individuals. The majority of these mutations are C to T transitions, changing an arginine residue (CGA) to a stop codon (TGA). Four of the five CGA codons in the CHM gene are sites of recurring mutations.


Assuntos
Alquil e Aril Transferases , Coroideremia/genética , Proteínas rab de Ligação ao GTP/genética , Proteínas Adaptadoras de Transdução de Sinal , Coroideremia/metabolismo , DNA/química , DNA/genética , Análise Mutacional de DNA , DNA Complementar/química , DNA Complementar/genética , Saúde da Família , Feminino , Humanos , Immunoblotting , Masculino , Mutação , Polimorfismo Genético , Polimorfismo Conformacional de Fita Simples , Proteínas rab de Ligação ao GTP/metabolismo
15.
J Pediatr Surg ; 49(1): 114-9, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24439593

RESUMO

PURPOSE: Intestinal perforations are common in premature infants, leading to a diagnostic dilemma between necrotizing enterocolitis and isolated intestinal perforation (IIP). IIP is thought to result from a congenital or acquired absence of the muscularis propria. However, developmental events leading to IIP are not well understood. This study examines the relationship between corrected gestational age (CGA) and intestinal muscle development in controls and patients with IIP. METHODS: Specimens from stillbirths and infants undergoing intestinal surgery from 8 to 48weeks' CGA were collected from 2005 to 2012. Twelve patients with IIP were identified. Control specimens were collected during 25 fetal autopsies and 39 bowel resections. In each case, three sections of intestine were examined histologically for muscularis mucosa, circular and longitudinal muscle thickness. Comparisons of control and perforated specimens were performed via linear regression and ANOVA. RESULTS: Controls and adjacent normal segments in IIP showed a linear relationship between thickness of circular and longitudinal muscles with CGA. Circular and longitudinal muscles were thinner in perforated segments than in adjacent normals and CGA-matched controls (p<0.05). CONCLUSION: Intestinal muscularis propria increases in thickness with CGA. Muscle thickness is focally attenuated in patients with isolated intestinal perforations, while the remaining intestine is normal, suggesting that primary repair is an appropriate treatment.


Assuntos
Enterocolite Necrosante/diagnóstico , Idade Gestacional , Doenças do Prematuro/diagnóstico , Perfuração Intestinal/diagnóstico , Intestino Delgado/patologia , Músculo Liso/patologia , Anastomose Cirúrgica , Diagnóstico Diferencial , Enterocolite Necrosante/patologia , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/patologia , Doenças do Prematuro/cirurgia , Perfuração Intestinal/patologia , Perfuração Intestinal/cirurgia , Intestino Delgado/embriologia , Laparotomia , Masculino , Músculo Liso/embriologia , Estomia , Cuidados Pós-Operatórios , Natimorto
16.
Front Biosci (Schol Ed) ; 1(1): 358-75, 2009 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-19482707

RESUMO

The endocrine system plays an intricate role in the regulation and modulation of cardiovascular function. Several hormones including thyroid, mineralocorticoid, glucocorticoid, arginine-vasopressin (AVP), and growth hormone (GH) have been investigated as adjunctive therapies in pediatric cardiac disease. Thyroid hormone supplementation appears to be safe in neonatal and pediatric post-operative cardiac patients, but the benefits have been modest and inconsistent. Glucocorticoids appear to decrease the inflammatory response associated with cardiopulmonary bypass in children, but have little effect on clinical outcomes. The role of AVP in pediatric shock remains limited due to inconsistent trial results and its potential side effect profile. Although mineralcorticoids are commonly used to treat neurocardiogenic syncope, little to no benefit has been demonstrated in controlled trials. GH normalizes altered cardiac function in children who are GH deficient, but its effectiveness in the treatment of heart failure has been variable. Overall, the use of these hormones in a variety of pediatric cardiac conditions generally appears to be safe, but their efficacy for relieving symptoms, improving cardiac function, and improving clinical outcomes remains unclear.


Assuntos
Cardiopatias/terapia , Hormônios/uso terapêutico , Criança , Terapia Combinada , Cardiopatias/fisiopatologia , Cardiopatias/cirurgia , Humanos , Cuidados Pós-Operatórios
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