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1.
J Pediatr ; 230: 23-31.e10, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33197493

RESUMO

OBJECTIVE: To characterize the demographic and clinical features of pediatric severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) syndromes and identify admission variables predictive of disease severity. STUDY DESIGN: We conducted a multicenter, retrospective, and prospective study of pediatric patients hospitalized with acute SARS-CoV-2 infections and multisystem inflammatory syndrome in children (MIS-C) at 8 sites in New York, New Jersey, and Connecticut. RESULTS: We identified 281 hospitalized patients with SARS-CoV-2 infections and divided them into 3 groups based on clinical features. Overall, 143 (51%) had respiratory disease, 69 (25%) had MIS-C, and 69 (25%) had other manifestations including gastrointestinal illness or fever. Patients with MIS-C were more likely to identify as non-Hispanic black compared with patients with respiratory disease (35% vs 18%, P = .02). Seven patients (2%) died and 114 (41%) were admitted to the intensive care unit. In multivariable analyses, obesity (OR 3.39, 95% CI 1.26-9.10, P = .02) and hypoxia on admission (OR 4.01; 95% CI 1.14-14.15; P = .03) were predictive of severe respiratory disease. Lower absolute lymphocyte count (OR 8.33 per unit decrease in 109 cells/L, 95% CI 2.32-33.33, P = .001) and greater C-reactive protein (OR 1.06 per unit increase in mg/dL, 95% CI 1.01-1.12, P = .017) were predictive of severe MIS-C. Race/ethnicity or socioeconomic status were not predictive of disease severity. CONCLUSIONS: We identified variables at the time of hospitalization that may help predict the development of severe SARS-CoV-2 disease manifestations in children and youth. These variables may have implications for future prognostic tools that inform hospital admission and clinical management.


Assuntos
COVID-19/epidemiologia , Hospitalização , Índice de Gravidade de Doença , Síndrome de Resposta Inflamatória Sistêmica/epidemiologia , Adolescente , Biomarcadores/análise , Proteína C-Reativa/análise , COVID-19/sangue , Criança , Pré-Escolar , Connecticut/epidemiologia , Feminino , Humanos , Hipóxia/epidemiologia , Lactente , Unidades de Terapia Intensiva , Contagem de Linfócitos , Masculino , Análise Multivariada , New Jersey/epidemiologia , New York/epidemiologia , Obesidade Infantil/epidemiologia , Pró-Calcitonina/sangue , Estudos Prospectivos , Estudos Retrospectivos , Síndrome de Resposta Inflamatória Sistêmica/sangue , Troponina/sangue , Adulto Jovem
2.
J Pediatr Gastroenterol Nutr ; 70(6): 849-852, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32443045

RESUMO

Inflammatory bowel disease (IBD) is a chronic disease causing inflammation of the gastrointestinal tract. Some patients require ostomy surgery to optimize their health. This study assessed perceived medical and psychosocial educational needs related to ostomy surgery in pediatric patients with IBD. This mixed-methods study included qualitative interviews of pediatric patients and caregivers with demographic/medical variables obtained from medical records. Participants (n = 8) had an average age of 15.62 years (standard deviation = 2.97). Mean length of diagnosis was 4.5 years (standard deviation = 3.6 years). Interviews were transcribed and coded. Qualitative coding of narratives identified main codes of Ostomy Surgery, Preoperative Concerns, Postoperative Concerns, Education Preferences, and Social Concerns, with various subcodes. Codes captured unfamiliarity with the ostomies, preferences for education from a medical provider, and psychosocial concerns. Results suggest pediatric patients with IBD have limited understanding of ostomies and limited insight into educational preferences. These findings highlight the importance of developmentally appropriate information for accessible ostomy education.


Assuntos
Colite , Doenças Inflamatórias Intestinais , Estomia , Adolescente , Cuidadores , Criança , Humanos , Doenças Inflamatórias Intestinais/cirurgia , Qualidade de Vida , Inquéritos e Questionários
3.
J Pediatr Gastroenterol Nutr ; 64(6): 907-910, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-27513695

RESUMO

OBJECTIVES: Few studies have examined the role health disparities play in pediatric gastrointestinal (GI) procedures. We hypothesized that health disparity factors affect whether patients undergo an emergent versus nonemergent GI procedure. The aims were to characterize the existing pediatric population undergoing GI procedures at our institution and assess specific risk factors associated with emergent versus nonemergent care. METHODS: We retrospectively reviewed the medical records of 2110 patients undergoing GI procedures from January 2012 to December 2014. Emergent procedures were performed on an urgent inpatient basis. All other procedures were considered nonemergent. Health disparity factors analyzed included age, sex, insurance type, race, and language. Logistic regression analysis identified the odds of undergoing emergent procedures for each factor. RESULTS: Most study patients were boys (58.2%), primarily insured by Medicaid (63.8%), white (44.0%), and spoke English (91.7%). Ten percent of all patients had an emergent procedure. Logistic regression analysis showed significant odds ratios (P value) for ages 18 years older (2.16, 0.003), females (0.62, 0.001), commercial insurance users (0.49, <0.0001), African Americans (1.94, <0.0001), and other race (1.72, 0.039). CONCLUSIONS: Health disparities in age, sex, insurance, and race appear to exist in this pediatric population undergoing GI procedures. Patients older than 18 years, African Americans, and other races were significantly more likely to have an emergent procedure. Girls and commercial insurance users were significantly less likely to have an emergent procedure. More research is necessary to understand why these relations exist and how to establish appropriate interventions.


Assuntos
Doenças do Sistema Digestório , Procedimentos Cirúrgicos do Sistema Digestório/estatística & dados numéricos , Etnicidade , Disparidades nos Níveis de Saúde , Disparidades em Assistência à Saúde/estatística & dados numéricos , Seguro Saúde/estatística & dados numéricos , Grupos Raciais , Adolescente , Criança , Pré-Escolar , Doenças do Sistema Digestório/diagnóstico , Doenças do Sistema Digestório/economia , Doenças do Sistema Digestório/etnologia , Doenças do Sistema Digestório/terapia , Emergências , Feminino , Disparidades em Assistência à Saúde/economia , Disparidades em Assistência à Saúde/etnologia , Humanos , Lactente , Recém-Nascido , Idioma , Modelos Logísticos , Masculino , Razão de Chances , Philadelphia/epidemiologia , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais
4.
J Pediatr Gastroenterol Nutr ; 64(3): 485-494, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-27642781

RESUMO

Wireless capsule endoscopy (CE) was introduced in 2000 as a less invasive method to visualize the distal small bowel in adults. Because this technology has advanced it has been adapted for use in pediatric gastroenterology. Several studies have described its clinical use, utility, and various training methods but pediatric literature regarding CE is limited. This clinical report developed by the Endoscopic and Procedures Committee of the North American Society of Pediatric Gastroenterology, Hepatology and Nutrition outlines the current literature, and describes the recommended current role, use, training, and future areas of research for CE in pediatrics.


Assuntos
Endoscopia por Cápsula , Gastroenteropatias/diagnóstico por imagem , Endoscopia por Cápsula/efeitos adversos , Endoscopia por Cápsula/educação , Endoscopia por Cápsula/métodos , Criança , Contraindicações de Procedimentos , Gastroenterologia/educação , Gastroenteropatias/terapia , Humanos , Consentimento Livre e Esclarecido , América do Norte , Pediatria/educação , Recusa do Paciente ao Tratamento
5.
J Pediatr Gastroenterol Nutr ; 63(2): 295-306, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-26974415

RESUMO

There is significant variability in the design and management of pediatric endoscopy units. Although there is information on adult endoscopy units, little guidance is available to the pediatric endoscopy practitioner. The purpose of this clinical report, prepared by the NASPGHAN Endoscopy and Procedures Committee, is to review the important considerations for setting up an endoscopy unit for children. A systematic review of the literature was undertaken in the preparation of this report regarding the design, management, needed equipment, motility setup, billing and coding, and pediatric specific topics.


Assuntos
Endoscopia Gastrointestinal , Gastroenterologia/organização & administração , Unidades Hospitalares/organização & administração , Pediatria/organização & administração , Desenvolvimento de Programas/métodos , Criança , Documentação , Eficiência Organizacional , Endoscopia Gastrointestinal/instrumentação , Endoscopia Gastrointestinal/métodos , Arquitetura de Instituições de Saúde , Gastroenterologia/instrumentação , Gastroenterologia/métodos , Humanos , Pediatria/instrumentação , Pediatria/métodos , Admissão e Escalonamento de Pessoal
6.
J Pediatr Gastroenterol Nutr ; 60(4): 562-74, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25611037

RESUMO

Foreign body ingestions in children are some of the most challenging clinical scenarios facing pediatric gastroenterologists. Determining the indications and timing for intervention requires assessment of patient size, type of object ingested, location, clinical symptoms, time since ingestion, and myriad other factors. Often the easiest and least anxiety-producing decision is the one to proceed to endoscopic removal, instead of observation alone. Because of variability in pediatric patient size, there are less firm guidelines available to determine which type of object will safely pass, as opposed to the clearer guidelines in the adult population. In addition, the imprecise nature of the histories often leaves the clinician to question the timing and nature of the ingestion. Furthermore, changes in the types of ingestions encountered, specifically button batteries and high-powered magnet ingestions, create an even greater potential for severe morbidity and mortality among children. As a result, clinical guidelines regarding management of these ingestions in children remain varied and sporadic, with little in the way of prospective data to guide their development. An expert panel of pediatric endoscopists was convened and produced the present article that outlines practical clinical approaches to the pediatric patient with a variety of foreign body ingestions. This guideline is intended as an educational tool that may help inform pediatric endoscopists in managing foreign body ingestions in children. Medical decision making, however, remains a complex process requiring integration of clinical data beyond the scope of these guidelines. These guidelines should therefore not be considered to be a rule or to be establishing a legal standard of care. Caregivers may well choose a course of action outside of those represented in these guidelines because of specific patient circumstances. Furthermore, additional clinical studies may be necessary to clarify aspects based on expert opinion instead of published data. Thus, these guidelines may be revised as needed to account for new data, changes in clinical practice, or availability of new technology.


Assuntos
Sistema Digestório , Corpos Estranhos/terapia , Gastroenteropatias/terapia , Criança , Ingestão de Alimentos , Endoscopia , Humanos , Pediatria
7.
J Pediatr Gastroenterol Nutr ; 59(3): 409-16, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24897169

RESUMO

Pediatric bowel preparation protocols used before colonoscopy vary greatly, with no identified standard practice. The present clinical report reviews the evidence for several bowel preparations in children and reports on their use among North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition members. Publications in the pediatric literature for bowel preparation regimens are described, including mechanisms of action, efficacy and ease of use, and pediatric studies. A survey distributed to pediatric gastroenterology programs across the country reviews present national practice, and cleanout recommendations are provided. Finally, further areas for research are identified.


Assuntos
Catárticos/administração & dosagem , Colonoscopia/métodos , Padrões de Prática Médica , Cuidados Pré-Operatórios/métodos , Adolescente , Catárticos/efeitos adversos , Criança , Pré-Escolar , Gastroenterologia/métodos , Humanos , Laxantes/administração & dosagem , Laxantes/efeitos adversos , Pediatria/métodos
8.
Children (Basel) ; 11(6)2024 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-38929192

RESUMO

Gastrointestinal tract perforation is uncommon in children, accounting for <10% of cases of blunt abdominal trauma. Diagnosis of bowel perforation in children can be challenging due to poor diagnostic imaging accuracy. Intra-abdominal free air is found only in half of the children with bowel perforation. Ultrasound findings are nonspecific and suspicious for perforation in only two-thirds of cases. A computer tomography (CT) scan has a sensitivity and specificity of 50% and 95%, respectively. Surgical decisions should be made based on clinical examination despite normal CT results. Management of bowel perforation in children includes primary repair in 50-70% and resection with anastomosis in 20-40% of cases.

9.
Children (Basel) ; 10(2)2023 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-36832472

RESUMO

This review article highlights the disparities evident in pediatric trauma care in the United States. Social determinants of health play a significant role in key aspects of trauma care including access to care, gun violence, child abuse, head trauma, burn injuries, and orthopedic trauma. We review the recent literature as it relates to these topics. The findings from these recent studies emphasize the important principle that trauma care for children should be designed with a focus on equity for all children.

10.
J Pediatr Health Care ; 37(4): 381-390, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36863886

RESUMO

INTRODUCTION: Adolescents with chronic conditions have disparate mental health outcomes. This study aimed to explore the perspectives of adolescents with chronic conditions on mental health system redesign to improve outcomes. METHOD: Within an interpretive phenomenological approach, semistructured interviews with 17 adolescents aged 10-20 years with chronic conditions were conducted. Purposive sampling and recruitment occurred at three ambulatory sites. Data were analyzed using inductive and deductive thematic analysis until information saturation was achieved. RESULTS: Four themes were identified: (1) Brushed off: I need to be heard, (2) I need someone I can really talk to and trust, (3) They need to reach out to us. Check in on us, and (4) the school nurse is for physical illness only. DISCUSSION: Mental health system redesign should be considered for adolescents with chronic conditions. The findings can inform future research to test innovative health care delivery models to reduce mental health disparities in this vulnerable population.


Assuntos
Serviços de Saúde Mental , Saúde Mental , Humanos , Criança , Adolescente , Doença Crônica , Saúde da Criança , Alocação de Recursos
11.
J Spec Pediatr Nurs ; 28(2): e12403, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36815596

RESUMO

PURPOSE: The Covid-19 pandemic contributed to adverse adolescent mental health outcomes globally. Adolescents with chronic conditions have four times the odds of self-harm than peers. Little evidence exists to guide pediatric nurses on how to engage this vulnerable population with mental health support as the pandemic continues. In adults with chronic conditions, positive health assets (health access literacy, health self-efficacy, and emotional well-being) are directly related to improved patient engagement. The objective of this study was to gain a deeper understanding of engagement with mental health supports in adolescents with chronic conditions to inform practice. DESIGN AND METHODS: Using mixed methods, we surveyed and interviewed adolescents with chronic conditions aged 10-20 years. Random sampling was applied to avoid bias. Valid and reliable scales were used to measure health access literacy, health self-efficacy, and emotional well-being. Textual data were collected using a semistructured interview guide. Integrated data analysis was conducted using structural equation models and interpretive phenomenology. RESULTS: One hundred fifty-four participants provided numerical data and 17 participants provided textual data (mean age 15.5 years; 56% female, 5.8% agender; 56% White; 16.9% Black or African American, 4.5% Asian; 51.9% Hispanic or Latinx; 23.4% LGBTQ+). The structural model was an acceptable fit for the data (comparative fit index [CFI] = 0.97, Tucker-Lewis index [TLI] = 0.95). Participants reported higher levels of health access literacy (M = 3.88, SD = 0.848) than health self-efficacy (M = 2.98, SD = 0.646), and engagement (M = 1.78, SD = 1.71). Health access literacy predicted emotional well-being (ß = .33, p < .001, 95% confidence interval [CI] [.20, .50]) and health self-efficacy (ß = .52, p < .001, 95% CI [0.42, .062]). Emotional well-being positively predicted health self-efficacy (ß = .21, p < .003, 90% CI [0.10, 0.033]). Health self-efficacy predicted engagement (ß = .20, p < .01, 90% CI [0.07, 0.034]). Participants reported not engaging until "it was really, really bad" citing fear, stigma, and lack of connectedness with providers as barriers. PRACTICE IMPLICATIONS: Regardless of health access literacy and health self-efficacy, adolescents with chronic conditions may not engage until crisis levels. Pediatric nurses can aim to engage with this vulnerable population proactively.


Assuntos
COVID-19 , Serviços de Saúde Mental , Participação do Paciente , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Doença Crônica , COVID-19/epidemiologia , Emoções , Saúde Mental , Pandemias , Estigma Social
12.
Children (Basel) ; 9(12)2022 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-36553312

RESUMO

The SARS-CoV-2 pandemic disrupted the delivery of education in our school systems and exacerbated pre-existing health and educational disparities. School administrators and staff from underserved communities struggled with continuously changing medical guidance, ensuring equitable education by virtual platforms, and re-opening schools safely. The Hackensack Meridian School of Medicine (HMSOM) partnered with statewide resource-limited school districts to create the COVID Support Our Schools (SOS) initiative. This consisted of a physician advisory board, medical student task forces, and community leaders. Numerous sessions were hosted by the COVID SOS team to answer questions, address community needs, and carry out initiatives to meet identified needs. Surveys, including Likert scale questions and open-ended feedback, were administered to all participating school districts. In total, 100% of respondents strongly agreed or agreed that the COVID SOS program was dedicated to community needs and provided timely support with necessary resources. Open-ended feedback described that the K-12 school districts valued our partnership as well as found the opportunity to engage with other districts informative and rewarding. The partnership between our academic medical institution and community school districts is mutually beneficial, providing an opportunity for medical student service learning as well as imparting medical expertise in times of need.

13.
Ann Transl Med ; 10(22): 1240, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36544660

RESUMO

Background: Recent research suggests that dihydrolipoamide acetyltransferase (DLAT), which is a copper-induced cell death-related gene, is involved in multiple biological events in tumors. This study sought to investigate the relationship between DLAT and hepatocellular carcinoma (HCC). Methods: In the Cancer Genome Atlas (TCGA) database, we first identified the differentially expressed gene (i.e., DLAT), then confirmed DLAT expression, and found a link between it and the prognosis of HCC patients. An internal validation nomogram was built based on a multivariate Cox regression analysis. Data from the Tumor Immune Estimation Resource (TIMER) database was used to examine the association between DLT and immunological cells. A gene set enrichment analysis (GSEA) was conducted to investigate the probable mechanism of action. Finally, in vitro cytological research was conducted to further examin the involvement of DLAT in HCC-related unfavorable biological events. Results: The database screenings showed that DLAT was a differentially expressed molecule; that is, DLAT was more highly expressed in the cancer tissues than normal tissues. TCGA results and Kaplan-Meier-plotter data sets showed that HCC patients with reduced DLAT expression had greater disease-specific survival (DSS), overall survival (OS), and progression-free interval (PFI). The prediction model had a concordance index of 0.659 (0.614-0.704), which indicates high accuracy. According to the TIMER database, tumor cells in the HCC microenvironment may be able to bypass the immune system due to the expression of DLAT. The in vitro cytological tests showed that DLAT knockdown significantly decreased the proliferation and invasion of the HCC cells. It also inhibited the activity of the phosphatidylinositol-4,5-bisphosphate 3-kinase (PI3K)/protein kinase B (Akt) and Wnt/ß-catenin signaling pathways. Conclusions: Decreased DLAT expression significantly prolongs the OS, PFI, and DSS of HCC patients. DLAT may be employed as a new predictive biomarker for HCC, and may be linked to the immune system in HCC patients. The tumor microenvironment (TME) may have a significant effect on the ability of tumor cells to evade the immune system. The PI3K/Akt and Wnt/ß-catenin signaling pathways may affect the prognosis of HCC by interfering with DLAT. Given these findings, HCC may be an ideal target for the development of anti-cancer therapies.

14.
J Gastrointest Oncol ; 12(Suppl 2): S316-S323, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34422396

RESUMO

Immunizations have influenced the epidemiology of numerous gastrointestinal cancers. Human papillomavirus (HPV) is a common sexually transmitted infection (STI). Although most infections are transient and asymptomatic, persistent infections with oncogenic strains of HPV can progress to cervical, anal, penile, vaginal, vulvar, and oropharyngeal cancers. The introduction of HPV vaccinations has drastically reduced incidences of HPV-vaccine related infections and HPV related cervical cancers. The vaccine has proven to be safe and effective however, HPV vaccination rates have yet to reach target goals in the U.S. and many countries worldwide have not incorporated the vaccine into national immunization programs. The first successful nationwide vaccination program was employed against hepatitis B virus (HBV) in Taiwan in 1984 and demonstrated a statistically significant decrease in the incidence of hepatocellular carcinoma (HCC) in the 6 to 10 years after implementation of universal HBV vaccinations in infants. Twenty-year follow-up studies have continued to demonstrate statistically significant decreased rates of HBV related HCC among vaccinated populations. Despite the successful decrease in incidence of HBV-related HCC, efforts to create an effective prophylactic vaccination against hepatitis C virus (HCV) to prevent chronic HCV infection and its associated morbidity, including HCV-related HCC, have to date been unsuccessful.

15.
Pediatr Clin North Am ; 68(6): 1147-1155, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34736581

RESUMO

Social determinants of health (SDH) as outlined by Healthy People 2020 encompasses 5 key domains: economic, education, social and community context, health and health care, and neighborhood and built environment. This article emphasizes pediatric populations and some of the existing SDH and health care disparities seen in pediatric gastroenterology. We specifically review inflammatory bowel disease, endoscopy, bariatric surgery, and liver transplantation. We also examine the burgeoning role of telehealth that has become commonplace since the coronavirus disease 2019 era.


Assuntos
Proteção da Criança/estatística & dados numéricos , Gastroenterologia/organização & administração , Equidade em Saúde/estatística & dados numéricos , Disparidades em Assistência à Saúde/estatística & dados numéricos , Determinantes Sociais da Saúde , Criança , Acessibilidade aos Serviços de Saúde/organização & administração , Disparidades nos Níveis de Saúde , Humanos , Fatores Socioeconômicos , Estados Unidos
16.
Health Equity ; 5(1): 270-276, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34095706

RESUMO

Objectives: There is limited data describing the role of health disparity factors and socioeconomic status (SES) on emergent versus nonemergent gastrointestinal (GI) procedures within pediatrics. We aimed to characterize risk factors and determine the role of SES on emergent versus nonemergent GI care. We hypothesized that patients with lower SES incur higher risk of having emergent procedures performed. Methods: Retrospective chart review was performed between 2012 and 2016, with 2556 patient records reviewed. Demographic data and SES categories were determined. The majority of emergent procedures were performed on an inpatient basis. Health disparity factors analyzed included age, gender, insurance type, race, language, and SES using census tracts. Logistic regression analyses and paired t-tests were utilized. Results: Two hundred eighty-six (11.2%) patients had emergent GI procedures performed. Logistic regression (odds ratio [OR], confidence interval (95% CI)] showed patients from 6-11 to 12-17 years of age were less likely to seek emergent care than the youngest group [0.47, 0.33-0.66 and 0.61, 0.45-0.84]. Patients with Medicaid insurance [1.68, 1.27-2.26], African American or "other" race [2.07, 1.48-2.90 and 2.43, 1.77-3.36, respectively], as well as "other" language [2.1, 1.14-3.99] more often sought emergent care. Using geocoded data, we found that as SES increases by 1, emergent risk for procedures decreased by 2.9% (OR 0.97, p=0.045). Conclusions: Children with lower SES, at extremes of age (<5, >18 years), non-English or Spanish speaking and with Medicaid insurance are at higher risk of undergoing emergent GI procedures. This study gives us an opportunity to plan targeted interventions to improve access and quality of care.

18.
Mol Genet Genomic Med ; 8(3): e1078, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31951325

RESUMO

BACKGROUND: The Xq22.2 q23 is a complex genomic region which includes the genes MID2 and PLP1 associated with FG syndrome 5 and Pelizaeus-Merzbacher disease, respectively. There is limited information regarding the clinical outcomes observed in patients with deletions within this region. METHODS: We report on a male infant with intrauterine growth retardation (IUGR) who developed head titubation and spasticity during his postnatal hospital course. RESULTS: Chromosome microarray revealed a 6.7 Mb interstitial duplication of Xq22.2q22.3. Fluorescence in situ hybridization showed that the patient's mother also possessed the identical duplication in the Xq22.3q22.3 region. Among the 34 OMIM genes in this interval, the duplication of the PLP1 (OMIM# 300401) and MID2 (OMIM# 300204) appears to be the most significant contributors to the patient's clinical features. Mutations and duplications of PLP1 are associated with X-linked recessive Pelizaeus-Merzbacher disease (PMD). A single case of a Xq22.3 duplication including the MID2 has been reported in boy with features of FG syndrome. However, our patient's clinical features are not consistent with the FG syndrome phenotype. CONCLUSION: Our patient's clinical features appear to be influenced by the PLP1 duplication but the clinical effect of other dosage sensitive genes influencing brain development cannot be ruled out.


Assuntos
Duplicação Cromossômica , Anormalidades Craniofaciais/genética , Retardo do Crescimento Fetal/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Proteínas Associadas aos Microtúbulos/genética , Proteína Proteolipídica de Mielina/genética , Fatores de Transcrição/genética , Cromossomos Humanos X/genética , Anormalidades Craniofaciais/patologia , Retardo do Crescimento Fetal/patologia , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Humanos , Lactente , Masculino , Síndrome
19.
Radiol Case Rep ; 13(4): 839-842, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29955242

RESUMO

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited condition characterized by hamartomatous gastrointestinal polyps, mucocutaneous pigmentation, and a predisposition for malignancy. Most patients with PJS are diagnosed in the second or third decade of life, and commonly have intussusception as a complication. This report describes an unusual case of a 2-year-old male known to have PJS, who had previously developed a small bowel intussusception caused by a polyp requiring a very short segmental small bowel resection. The patient remained asymptomatic several months after the surgery and then presented with acute abdominal discomfort. On abdominal ultrasound, a target sign measuring 2.7 cm was noted in the left upper quadrant of the abdomen, suggesting a small bowel-small bowel intussusception. There was no evidence of intussusception or bowel obstruction otherwise on diagnostic laparoscopy. It was thought that the previous side-to-side anastomosis had mimicked intussusception on the ultrasound examination. A repeat abdominal ultrasound was performed 1 week after the laparoscopy when the patient was asymptomatic. This again demonstrated a target sign identical in appearance to the previous ultrasound and confirmed that the side-to side anastomosis had in fact mimicked intussusception. It is important that the pediatric gastroenterology, radiology, and surgery communities are aware of this ultrasound finding; it could impact the decision on whether to operate emergently. To our knowledge this is the first report describing this unusual scenario in humans.

20.
J Pediatr ; 151(3): 255-9, 2007 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17719933

RESUMO

OBJECTIVE: To determine whether primary sclerosing cholangitis (PSC) in childhood is associated with abnormalities in cystic fibrosis transmembrane conductance regulator (CFTR). STUDY DESIGN: Subjects with PSC diagnosed in childhood (n = 20) were recruited from Children's Hospital. Subjects had testing with sweat chloride concentration, nasal transmembrane potential difference, and extensive genetic analysis of the CFTR gene. Disease control subjects consisted of 14 patients with inflammatory bowel disease alone and no liver disease. t tests were performed to determine statistical significance. RESULTS: In the PSC group, CFTR chloride channel function (deltaChloride free + isoproterenol) was markedly diminished at -8.6 +/- 8.2 mV (reference range: -24.6 +/- 10.4 mV). In contrast, disease control subjects had normal function, at -17.8 +/- 9.7 mV (P = .008). Sweat chloride concentration in subjects with PSC was greater than in disease control subjects (20.8 +/- 3.4 mmol/L vs 12.0 +/- 1.6 mmol/L, P = .045). Comprehensive CFTR genotyping revealed that 5 of 19 (26.3%) subjects with PSC had a CFTR mutation or variant, compared with 6 of 14 (42.9%) disease control subjects. CONCLUSIONS: There is a high prevalence of CFTR-mediated ion transport dysfunction in subjects with childhood PSC.


Assuntos
Colangite Esclerosante/genética , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Adolescente , Colangiopancreatografia Retrógrada Endoscópica , Colangiopancreatografia por Ressonância Magnética , Colangite Esclerosante/diagnóstico , Regulador de Condutância Transmembrana em Fibrose Cística/metabolismo , Análise Mutacional de DNA , Progressão da Doença , Feminino , Genótipo , Humanos , Transporte de Íons/genética , Isoproterenol/sangue , Masculino , Receptores Ativados por Proliferador de Peroxissomo/fisiologia , Estudos Prospectivos , Suor/química
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