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1.
Artigo em Inglês | MEDLINE | ID: mdl-38934419

RESUMO

OBJECTIVES: An acceptable alternative to human milk is US Food and Drug Administration (US FDA)-registered infant formula, which must meet the requirements of the US FDA Infant Formula Act. Human milk contains lactose, but some infant formulas may contain alternative carbohydrate sources such as corn syrup solids, maltodextrin, and sucrose. Recent research shows that infant-formula made with corn syrup solids may be associated with increased obesity risk in the first 5 years of life. A previous study found that of all formulas purchased, 59.0% were lactose-reduced. More US infants consume infant formula with nonlactose carbohydrates more frequently than is medically necessary. The purpose of this study is to use National Health and Nutrition Examination Survey (NHANES) data to describe the type and prevalence of nonlactose carbohydrates consumed in infant formula. METHODS: NHANES data from 1999 to 2020 was used to perform cross-sectional analyses and analyses of comparison of prevalence over time on consumption of nonlactose carbohydrate sources in infant formulas. RESULTS: We identified 3709 unique infant IDs associated with 36,084 feeding sessions. More than half of the feeding sessions involved a formula with at least one nonlactose carbohydrate. Feeding sessions involving a formula with at least one nonlactose carbohydrate increased by 163% from 1999-2004 to 2017-2020; formulas containing single or multiple nonlactose carbohydrate types account for the increase in prevalence. CONCLUSIONS: This study highlights an increase in the consumption of infant formula containing a nonlactose carbohydrate. More studies are needed to understand the short- and long-term effects of early exposure to these carbohydrates.

2.
J Pediatr Gastroenterol Nutr ; 76(4): 512-516, 2023 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-36720107

RESUMO

OBJECTIVE: European Society for Pediatric Gastroenterology, Hepatology and Nutrition and the American Academy of Pediatrics state that young child formula (YCF) is not considered necessary for healthy children. Despite these recommendations, YCF accounts for approximately 13% of overall formula sales. Five percent of infants less than 1 year of age in the United States are being fed YCF. The purpose of this study is to identify the most Internet recommended and encountered YCF in the United States and determine if they meet nutritional recommendations for use in children 0-3 years. STUDY DESIGN: We used the search terms "toddler formula," "toddler milk," "follow-up formula," or "young child formula" in Google and DuckDuckGo to identify the most like encountered or recommended YCF on the Internet. We compared their labeled nutrients to Food and Drug Administration (FDA) Infant Formula Act (IFA) and international nutrient recommendations, given the absence of US nutrient requirements for YCF recommendations, for children 12-36 months. RESULTS: Twenty-nine YCF were reviewed. On average, YCF did not meet nutrient recommendations for infants and toddlers with 2.17 and 4.6 ingredients not meeting formula recommendations for younger and older infants, respectively, and between 3 and 4 ingredients for 12-36 months. CONCLUSIONS: Nutrition content of YCF are variable and do not meet FDA IFA requirements or YCF international recommendations. Increased US regulation is needed for YCF. It is important for health care providers to ask patients what they are feeding their infants and toddlers so they can educate parents on potential nutritional safety concerns.


Assuntos
Alimentos Formulados , Fórmulas Infantis , Lactente , Humanos , Criança , Estados Unidos , Animais , Leite , Estado Nutricional , Necessidades Nutricionais , Fenômenos Fisiológicos da Nutrição do Lactente
3.
J Pediatr Gastroenterol Nutr ; 74(5): 668-673, 2022 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-35149650

RESUMO

OBJECTIVE: The American Academy of Pediatrics (AAP) and North American Society for Pediatric Gastroenterology, Hepatology and Nutrition recommend either exclusively breastfeeding for at least 6 months or an u.S. Food and Drug Administration-reviewed infant formula or donor breast milk from an established milk bank as alternatives. The purpose of this study was to establish the prevalence of contemporary infant feeding practices such as informal human milk sharing, imported European infant formula, toddler formula and homemade formula and gain insight into the parental reasoning for their choices. STUDY DESIGN: An anonymous, cross-sectional, voluntary electronic survey was sent to active prescribers to a Yumi (a baby food subscription company) list server in April and May 2021. Basic demographic, utilization of infant feeding practices and general feeding practices were collected. RESULTS: Of 2315 respondents, at least 18% of the families were following at least one contemporary feeding practice. Thirty six percent of parents using donor breast milk obtained it from unregulated sources, 14% of the respondents were using European infant formula, 5% were using toddler formula for their infants, and 2% were making homemade infant formula. CONCLUSION: The AAP has clear guidelines on infant nutrition and breastfeeding and when not possible, FDA reviewed infant formula or donor breast milk from an established milk bank as alternatives. Yet, our study found that at least 18% of the families across the united States were following at least one contemporary feeding practice with possible nutritional and safety concerns. it is important for pediatric gastroenterologists and dieticians to ask their patients how they are feeding their infants and be aware of these feeding practices that may pose significant health risks.


Assuntos
Fórmulas Infantis , Fenômenos Fisiológicos da Nutrição do Lactente , Aleitamento Materno , Criança , Estudos Transversais , Feminino , Humanos , Lactente , Alimentos Infantis , Leite Humano , Estados Unidos
4.
J Genet Couns ; 31(1): 261-268, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34347921

RESUMO

Preimplantation genetic testing for monogenic disorders (PGT-M) was originally developed to identify embryos affected with serious childhood-onset disorders, but its use has recently broadened. Guidance on the use of PGT-M in the United States (U.S.) is currently limited, with no formal laws or guidelines established on its use. The goals of this study were to determine for which types of conditions U.S. laboratories currently do not offer PGT-M, to explore ethical considerations U.S. laboratory genetic counselors (GCs) take into consideration when deciding to accept or reject a PGT-M request, and to explore whether U.S. laboratory GCs believe PGT-M should be offered for conditions with reduced penetrance or for variants of uncertain significance (VUS). Qualitative analysis of semi-structured interviews with nine genetic counselors, from five different PGT-M laboratories, was conducted. Participants were required to be GCs working at a PGT-M laboratory in the U.S. and either actively counsel patients on PGT-M or determine a patient's eligibility for PGT-M. Two participants reported their separate laboratories have no limitations for allowable PGT-M testing, while the other seven participants representing three other laboratories reported having limitations. The main ethical consideration GCs reported considering when deciding to accept or reject a PGT-M request was patient autonomy, with a focus on the patient understanding risks of the testing. All participants reported believing PGT-M should be allowable for conditions with reduced penetrance and VUS, with all participants stating their respective laboratories allow for this currently. However, all participants reported a lack of sufficient guidelines and that having guidelines from a professional organization would be beneficial to their practice. In conclusion, lack of current guidelines in the United States has created discrepancies between PGT-M laboratories. PGT-M laboratory GCs support the use of PGT-M for conditions with reduced penetrance and VUS with informed consent. The need for guidelines is supported.


Assuntos
Conselheiros , Diagnóstico Pré-Implantação , Criança , Feminino , Testes Genéticos , Humanos , Laboratórios , Penetrância , Gravidez , Estados Unidos
5.
J Pediatr Gastroenterol Nutr ; 73(2): 217-222, 2021 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-34016884

RESUMO

OBJECTIVES: While the use of telemedicine has accelerated significantly with the recent pandemic, it has also magnified disparities in access to telemedicine. This study aims to look at telemedicine utilization patterns within a large pediatric gastroenterology practice. METHODS: A retrospective study of ambulatory care visits within Yale-New Haven Hospital's pediatric gastroenterology practice during the peak expansion of the telemedicine program was conducted. Zip code-level socioeconomic data were obtained using the Distressed Communities Index. A multivariate logistic regression to evaluate disparities between the use of video versus telephone visits was computed, and unadjusted and adjusted odds ratios with 95% confidence intervals (CIs) were obtained. RESULTS: A total of 1273 clinic visits were included in analysis. The majority of the patients listed English as their preferred language, had private insurance, and identified as non-Hispanic White. When adjusting for co-variates, having public insurance/Medicaid was associated with decreased odds of having video over telephone visits (adjusted odds ratio [aOR] 0.60; 95% CI 0.44-0.80). Those whose primary language was not English continued to have a statistically significant decreased odds of using video visits (Spanish aOR 0.24; 95% CI 0.13-0.44; other aOR 0.29; 95% CI 0.12-0.72). Within the adjusted multivariate logistic regression, race/ethnicity and SES were, however, no longer found to have a statistically significant decreased odds of video visits. CONCLUSIONS: The accelerated implementation of telemedicine within pediatric gastroenterology has given rise to disparities in its use. Further studies are needed to understand these disparities and develop interventions to lessen this gap in usage.


Assuntos
Gastroenterologia , Telemedicina , Assistência Ambulatorial , Criança , Humanos , Medicaid , Estudos Retrospectivos , Estados Unidos
6.
Telemed J E Health ; 27(12): 1379-1384, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-33719584

RESUMO

Background: Access to pediatric specialty care is a challenge, particularly for medically underserved populations. Introduction: One evolving method that has shown promise in helping ameliorate this disparity is electronic consultations (e-consults). Materials and Methods: This retrospective cohort study compared two groups: patients referred to pediatric cardiology, endocrinology, or pulmonology from a Federally-Qualified Health Center 10 months before the implementation of an evidence-based care pathway and those referred in the 10 months after implementation. The care pathway included evidence-based referral guidelines for common pediatric diagnoses and an e-consult process. Data included patient demographics, dates of referral requests, appointment dates, e-consult response dates and times, diagnosis codes, and consultants' recommendations. Results: Twenty-three percent of all referrals made postimplementation were submitted for an e-consult, with 53% preventing an unnecessary face-to-face visit. The most common reason for an e-consult was heart murmur/chest pain for cardiology, short stature for endocrinology, and asthma for pulmonology. Discussion: Providers used e-consults for nearly one-quarter of all consultations postimplementation, resulting in 17% of consultations not needing a face-to-face visit. The use of e-consults combined with evidence-based referral guidelines provided a useful tool to help front line pediatric primary care providers manage complex problems and identify those not needing to see a specialist in person. Conclusions: Evidence-based care pathways combined with e-consults can help improve access to pediatric specialty care by reducing demand for in-person visits and allowing more care to be delivered in primary care.


Assuntos
Consulta Remota , Criança , Humanos , Estudos Retrospectivos
7.
Telemed J E Health ; 26(11): 1383-1390, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32023182

RESUMO

Background: Access to endocrinologists is a particular challenge for medically underserved populations. Introduction: Electronic consultations (eConsults) are a promising tool to help address this problem. Materials and Methods: This retrospective cohort study compared two groups: (1) Medicaid patients referred to an endocrinologist 1 year before the implementation of eConsults and (2) those referred in the 1 year after implementation. Data included patient demographics, dates of referral requests, appointment dates, eConsult response dates and times, diagnosis codes, and consultants' recommendations. Provider perspectives of eConsults were determined by using a survey. Results: Before eConsult implementation, only 138 out of 365 (37.8%) of referrals to endocrinology were completed. Postimplementation, 281 out of 469 (59.9%) of referrals were completed either by a confirmed face-to-face visit with an endocrinologist or by an eConsult, of whom 194 (41.4%) did not require a face-to-face visit. Thyroid conditions were the most common reason for a consult, accounting for roughly 40% of all consults. Overall, 32 out of 36 (89%) primary care providers (PCPs) indicated that they were satisfied with eConsults and 19 out of 36 (53%) felt that the process did not create additional work or burden for them. Discussion: These findings demonstrate that eConsult use can help address poor access to specialty care for Medicaid-insured patients. eConsults were able to significantly decrease the need for face-to-face visits and enabled PCPs to address specialty-related issues in primary care. Conclusions: Widespread adoption of eConsults could be a potential solution for major challenges that our health care system faces today.


Assuntos
Endocrinologia , Consulta Remota , Acessibilidade aos Serviços de Saúde , Humanos , Medicaid , Atenção Primária à Saúde , Encaminhamento e Consulta , Estudos Retrospectivos
8.
J Pediatr Gastroenterol Nutr ; 69(4): 480-486, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31107795

RESUMO

OBJECTIVE: Infant formula in the United States is highly regulated. The American Academy of Pediatrics (AAP) has reported concerns over the use of non-Food and Drug Administration (FDA)-registered imported infant formulas. The purpose of this study is to identify Internet purchased and recommended imported European infant formulas and compare them with FDA labeling and nutrient requirements. STUDY DESIGN: We searched "European infant formulas" in Google and DuckDuckGo to identify vendors of European formulas and blogs discussing these formulas to determine the most frequently purchased and recommended brands. We then compared the identified European formula's label and listed nutrients to FDA labeling and nutrient requirements. RESULTS: Thirteen of 18 vendors responded to our inquiry of their top selling formula and 17 blogs were reviewed. Sixteen formulas were identified. None met all FDA label requirements. Listed nutrients fell within FDA requirements in 15 of 16 formulas. CONCLUSIONS: Non-FDA-registered imported European formulas do not meet all FDA-labeling requirements. Although linoleic acid, which was not listed on all of the European formulas, could not be evaluated, all formulas except one met the remaining FDA nutrient requirements. These European infant formulas are being imported into the United States via third party vendors and are not FDA-regulated, limiting the notable consumer protections set by the FDA that ensure infant formula safety. Pediatric gastroenterologists and healthcare providers need to understand the composition, labelling and lack of FDA regulation and safety concerns of these formulas in order to better counsel parents.


Assuntos
Rotulagem de Alimentos/normas , Fórmulas Infantis , Benchmarking , Europa (Continente) , Feminino , Humanos , Recém-Nascido , Masculino , Necessidades Nutricionais , Estados Unidos , United States Food and Drug Administration
9.
J Am Acad Dermatol ; 78(2): 293-302, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29061478

RESUMO

BACKGROUND: The clinical outcome of teledermatology with dermoscopy in large-scale primary care networks remains unclear. OBJECTIVE: We evaluate the impact of implementing a teledermatology consultation program with dermoscopy on a statewide scale, focusing on access to care and skin cancer screening for medically underserved populations. METHODS: Descriptive retrospective cohort study of 2385 dermatology referrals from primary care from June 2014 through November 2015. RESULTS: Before implementation of electronic consultations (eConsults), access to dermatology was limited; only 139 (11%) of 1258 referrals resulted in a confirmed appointment with a median wait time of 77 days. Post implementation, 499 of 1127 consults (44%) were sent electronically, and of those, 16% required a face-to-face visit with a median wait time of 28 days. Ten malignancies were identified via eConsults. Overall consult volume remained stable pre- and post-eConsult implementation. LIMITATIONS: We evaluated eConsults in medically underserved populations seeking care at community health centers. Results might not be generalizable to other populations or in other settings. CONCLUSION: eConsults increase access to dermatologic care and reduce wait times for patients receiving medical care at community health centers. Implementing dermoscopy into teledermatology could increase access to skin cancer screening and treatment for medically disadvantaged populations.


Assuntos
Centros Comunitários de Saúde , Dermatologia/estatística & dados numéricos , Acessibilidade aos Serviços de Saúde , Encaminhamento e Consulta/estatística & dados numéricos , Dermatopatias/diagnóstico , Telemedicina/estatística & dados numéricos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Dermatologia/métodos , Dermoscopia , Detecção Precoce de Câncer , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Área Carente de Assistência Médica , Pessoa de Meia-Idade , Estudos Retrospectivos , Telemedicina/métodos , Fatores de Tempo , Adulto Jovem
10.
J Pediatr Gastroenterol Nutr ; 64(2): 261-264, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27846066

RESUMO

OBJECTIVES: Recent studies in adults report symptom relief with marijuana use in patients with inflammatory bowel disease (IBD). We assessed the prevalence, pattern, effects, and adverse effects of marijuana use in young adults with IBD. METHODS: We conducted a prospective questionnaire survey study at a pediatric IBD clinic. All patients (18-21 years of age) answered anonymous questionnaires about demographics, IBD, medications, and marijuana use. RESULTS: Fifty-three patients (mean age 18.7 years, 32 boys) were enrolled. Thirty-seven patients (70%) reported using marijuana currently or in the past. There was no statistically significant difference between the users and nonusers of marijuana regarding demographics, disease activity, or medications. Despite prolonged use of marijuana, 70% of patients did not discuss it with their gastroenterologists. Twenty-four patients used marijuana medicinally for IBD symptoms in addition to medical therapy. Although majority found marijuana to be moderately/very helpful, complete relief of symptoms such as abdominal pain, poor appetite, nausea, and diarrhea was seen in 29%, 37%, 14%, and 10% of patients, respectively. Only half of patients reported knowledge of possible adverse effects of marijuana and 19% of patients reported mild neuropsychiatric adverse effects. Overall, 98% of patients supported legalization of marijuana and 85% were interested in using medical marijuana if it became legally available. CONCLUSIONS: We found a high rate of marijuana use in our cohort of young adults with IBD. Majority of users report symptom improvement but do not inform physicians. Future well-controlled studies are necessary to assess role of marijuana in IBD therapy.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Doenças Inflamatórias Intestinais/tratamento farmacológico , Uso da Maconha/epidemiologia , Maconha Medicinal/uso terapêutico , Automedicação/estatística & dados numéricos , Adolescente , Connecticut , Feminino , Pesquisas sobre Atenção à Saúde , Humanos , Doenças Inflamatórias Intestinais/psicologia , Masculino , Uso da Maconha/efeitos adversos , Maconha Medicinal/efeitos adversos , Relações Médico-Paciente , Prevalência , Estudos Prospectivos , Automedicação/efeitos adversos , Adulto Jovem
11.
Dig Dis Sci ; 62(1): 175-179, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-27778203

RESUMO

BACKGROUND: Celiac serology is crucial for the diagnosis of celiac disease in children. The American guideline for celiac disease in children suggested that positive serology should be followed by confirmatory intestinal histology. The relationship between high tissue transglutaminase titers and celiac disease in children has not been well investigated in children from North America. AIMS: In the present study, we investigated whether different tissue transglutaminase titers in symptomatic children could predict celiac disease without the confirmation of intestinal histology. METHODS: Data from biopsy confirmed celiac children were collected from four different clinics in North America. Clinical, serological, histological, and follow-up data were collected. The accuracy rates of various tissue transglutaminase titers to predict celiac disease in children were calculated. RESULTS: The data from 240 children were calculated. The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy rate of tissue transglutaminase titers at ≥10× upper limit of normal were 75.4, 48.8, 87.7, 29.0, and 70.8 %, respectively. Similar data were noted in the other tissue transglutaminase titers (≥3× upper limit of normal, >100 U/ml, or >100 U/ml and >10× upper limit of normal). CONCLUSIONS: The positive predictive value of tissue transglutaminase titers at ≥3× upper limit of normal or higher was too low to predict celiac disease in children. Our data suggested that in routine clinical practice, high titers of tissue transglutaminase are not sufficient to diagnose celiac disease in North American children without intestinal biopsies.


Assuntos
Autoanticorpos/imunologia , Doença Celíaca/diagnóstico , Duodeno/patologia , Proteínas de Ligação ao GTP/imunologia , Imunoglobulina A/imunologia , Transglutaminases/imunologia , Adolescente , Biópsia , Doença Celíaca/imunologia , Doença Celíaca/patologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Intestino Delgado/patologia , Masculino , América do Norte , Valor Preditivo dos Testes , Proteína 2 Glutamina gama-Glutamiltransferase , Estudos Retrospectivos , Sensibilidade e Especificidade
12.
Pediatr Endocrinol Rev ; 12 Suppl 1: 125-32, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25345094

RESUMO

Lysosomal acid lipase (LAL) is responsible for the hydrolysis of cholesterol esters and triglycerides. LAL is coded by the LIPA gene on chromosome 10q23.31. Its deficiency leads to two autosomal recessive disorders, Wolman disease (WD) and Cholesteryl Ester Storage Disease (CESD). WD has an estimated incidence of 1 in 500,000 live births and is the result of a complete loss of LAL and presents in infancy with vomiting, diarrhea, poor weight gain and hepatomegaly subsequently leading to death. CESD is the result of partial loss of LAL and its presentation is more variable. Patients may be asymptomatic or present with nonspecific gastrointestinal symptoms, hepatomegaly, elevated transaminases and dystipidemia which may be confused with the diagnosis of Non-alcoholic Fatty Liver Disease. CESD is currently underdiagnosed and has an estimated prevalence as high as I in 40,000 individuals. Radiologic findings in WD is calcification of the adrenal glands. Hepatomegaly is noted on CT scan in both WD and CESD. MRI may demonstrate accumulation of cholesterol esters and may be useful to study effects of potential medical therapies. The diagnosis of WD and CESD is based on LIPA gene sequencing and the measurement of LAL levels in peripheral blood leukocytes. Treatment of LAL deficiency is currently limited to control of cholesterol levels and to prevent premature atherosclerosis. Use of enzyme replacement therapy with recombinant human LAL in short-term studies has shown to be safe and effective.


Assuntos
Doença do Armazenamento de Colesterol Éster/diagnóstico , Doença do Armazenamento de Colesterol Éster/tratamento farmacológico , Doença de Wolman/diagnóstico , Doença de Wolman/tratamento farmacológico , Anticolesterolemiantes/uso terapêutico , Transplante de Medula Óssea , Terapia de Reposição de Enzimas , Humanos , Esterol Esterase/genética , Resultado do Tratamento
13.
Nutrients ; 16(5)2024 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-38474876

RESUMO

In May of 2022, millions of U.S. parents encountered uncertainty in safely feeding their infants due to the infant formula shortage. METHODS: An anonymous, electronic, cross-sectional, retrospective survey was used. RESULTS: U.S. parents (n = 178) whose infants were ~10 weeks old during the shortage completed the survey. Of parents, 81% switched formulas during the shortage, 87% switched because they could not find the formula they typically used, 34% switched 3-5 times, 29% of parents visited ≥4 stores/24 h and 26% of parents traveled >20 miles/24 h to purchase formula. Use of infant formula increased (p < 0.01); in infants requiring specialty formula, use of intact cow's milk formula increased (p < 0.05) and use of premature infant formulas decreased (p < 0.05). Infants relying on specialty formulas experienced at least one undesirable outcome compared with non-specialty users. Parents used social media, relatives/friends and healthcare providers for support during the shortage, but their helpfulness scores were suboptimal. Parents reported the need for greater infant formula availability, free prenatal lactation education and postpartum lactation support. CONCLUSIONS: Government, regulatory and healthcare policy oversight are needed to protect the infant feeding system, including more commercially available products, access to banked donor milk and lactation support.


Assuntos
Comportamento do Consumidor , Fórmulas Infantis , Lactente , Feminino , Gravidez , Animais , Bovinos , Humanos , Estudos Transversais , Estudos Retrospectivos , Aleitamento Materno , Pais , Dieta
14.
J Pediatr Gastroenterol Nutr ; 56(6): 682-5, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23403440

RESUMO

OBJECTIVE: LIPA gene mutations result in deficiency of lysosomal acid lipase and present phenotypically as Wolman disease or cholesteryl ester storage disease (CESD) depending on the level of deficiency. Patients with CESD may often be misdiagnosed because symptoms may be nonspecific. Symptoms may present in infancy if there is complete loss of lysosomal acid lipase or in early childhood or adulthood when there is partial loss. The purpose of the present study is to review the literature for pediatric cases of CESD to better understand the phenotype of CESD. METHODS: A PubMed search of all English-language publications from 1966 through June 2012 for pediatric CESD case reports using the following key words CESD, fatty liver, and NAFLD was performed. All of the cases were reviewed and information regarding age, sex, presenting symptoms, and pertinent laboratory tests were recorded. RESULTS: Seventy-one cases were culled from 39 published case reports. Nearly two-thirds of these patients presented with their first symptoms when they were younger than 5 years. Hepatomegaly and splenomegaly were common features. Serum transaminases and lipids were often elevated. Gastrointestinal symptoms were noted in approximately one-third of cases. Two-thirds of patients had liver fibrosis. CONCLUSIONS: CESD has an estimated incidence as high as 1 in 40,000, which means that it is presently underdiagnosed. Education about common symptoms of CESD as well as a higher level of suspicion for screening for CESD will lead to earlier diagnosis. New treatments for CESD including possible enzyme replacement therapy make early diagnosis especially important.


Assuntos
Doença do Armazenamento de Colesterol Éster/diagnóstico , Doença de Wolman/diagnóstico , Animais , Criança , Pré-Escolar , Doença do Armazenamento de Colesterol Éster/genética , Doença do Armazenamento de Colesterol Éster/metabolismo , Doença do Armazenamento de Colesterol Éster/fisiopatologia , Diagnóstico Diferencial , Fígado Gorduroso/diagnóstico , Humanos , Mutação , Hepatopatia Gordurosa não Alcoólica , Esterol Esterase/genética , Esterol Esterase/metabolismo , Doença de Wolman/genética , Doença de Wolman/metabolismo , Doença de Wolman/fisiopatologia , Doença de Wolman
15.
Curr Opin Pediatr ; 24(1): 113-20, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22157364

RESUMO

PURPOSE OF REVIEW: Chronic hepatitis C infection remains a global public health burden and has important clinical implications due to progressive liver fibrosis and development of cirrhosis and its complications. The role of antiviral therapy in infected children is an area of controversy due to an indolent clinical course in the majority of children, and a low likelihood of viral eradication in response to an intensive interferon-based treatment course that is associated with a wide spectrum of adverse effects. This review summarizes new concepts in the epidemiology, natural history, and management of chronic hepatitis C infection in children. RECENT FINDINGS: In the past 18 months, two large prospective studies demonstrated high rates of sustained virologic response in children with chronic hepatitis C infection, estimated at 53% in genotype 1 with peginterferon α-2b-ribavirin, and 47% in genotype 1 with peginterferon α-2a-ribavirin. On this basis, both combination regimens have been recently approved by the Food and Drug Administration (FDA) for use in children. SUMMARY: Children with hepatitis C infection may benefit from early treatment, and the decision to pursue antiviral therapy should be based on individual assessment of host and viral characteristics, and stage of liver fibrosis.


Assuntos
Antivirais/administração & dosagem , Hepatite C Crônica/tratamento farmacológico , Interferon-alfa/administração & dosagem , Cirrose Hepática/tratamento farmacológico , Polietilenoglicóis/administração & dosagem , Ribavirina/administração & dosagem , Adolescente , Criança , Pré-Escolar , Análise Custo-Benefício , Quimioterapia Combinada , Feminino , Hepatite C Crônica/complicações , Humanos , Cirrose Hepática/prevenção & controle , Masculino , Proteínas Recombinantes/administração & dosagem , Resultado do Tratamento
17.
J Health Care Poor Underserved ; 33(2): 779-789, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35574876

RESUMO

OBJECTIVE: This study evaluated the impact of eConsults on access to specialty care for uninsured patients in Central Texas. METHODS: eConsults for four specialties, cardiology, gastroenterology, rheumatology, and endocrinology, were implemented in a large, multi-site federally qualified health center. Data were collected on specialty care access and utilization for a one-year period before and after implementation of the new process. RESULTS: Prior to implementation, 23% of uninsured patients referred to the included specialties completed a visit with a specialist. After implementation, 62% received a specialty consultation either through an eConsult or with a face-to-face visit. Wait times for referrals improved from a median of 54 days to seven days. CONCLUSION: This project demonstrated that eConsults improve access and reduce wait times for specialty care for uninsured patients. Interventions such as this have the potential to reduce health inequalities by providing timely access to care for common specialty concerns.


Assuntos
Medicina , Consulta Remota , Acessibilidade aos Serviços de Saúde , Humanos , Pessoas sem Cobertura de Seguro de Saúde , Atenção Primária à Saúde , Encaminhamento e Consulta , Texas
18.
JPGN Rep ; 2(1): e033, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37206946

RESUMO

In 2016, the European and North American Societies for Pediatric Gastroenterology, Hepatology, and Nutrition updated guidelines for management of Helicobacter pylori in children, adjusting the previous diagnostic and therapeutic approaches in response to changing epidemiology and antibiotic resistance patterns. In this study, we assessed knowledge, practice habits of H. pylori management, and adherence to new guideline recommendations among one state's community pediatric providers. The majority of the surveyed community pediatric providers are not following the new pediatric guidelines for H. pylori management. An evidence-practice gap for diagnosis and treatment of H. pylori disease can lead to poor resource utilization, inadequate antibiotic usage, increased antibiotic resistance, and prolonged symptoms in patients. By understanding pediatric provider practices, pediatric gastroenterologists can assist in addressing the gap through development of educational interventions for community pediatric providers.

19.
Clin Pediatr (Phila) ; 59(6): 566-572, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32146831

RESUMO

In 2018, the American Academy of Pediatrics warned consumers over the increasing use of imported infant formulas. The purpose of this study was to assess the usage of imported European infant formula among parents in a large urban private practice. An anonymous survey was distributed at well-child appointments to a convenience sample of parents at an urban private pediatric practice from November 2017 to March 2018. Of the 750 eligible respondents, 552 (74%) completed the survey. Of the parents using formula, 20% were using imported European infant formulas. The most commonly used formula was Holle (33%), and 72% were acquired from web-based third-party vendors. Parents chose to use these formulas because they believed that European formulas contained better ingredients. Only 8% of parents received information about European infant formula from their pediatricians. Pediatricians need to be aware of these formulas and their risks to educate families on the use and safety of these formulas.


Assuntos
Fórmulas Infantis/estatística & dados numéricos , Pais , Prática Privada , United States Food and Drug Administration , Estudos Transversais , Europa (Continente) , Humanos , Lactente , Cidade de Nova Iorque , Pediatria , Inquéritos e Questionários , Estados Unidos , População Urbana
20.
Sci Rep ; 9(1): 13574, 2019 09 19.
Artigo em Inglês | MEDLINE | ID: mdl-31537840

RESUMO

Immunoglobulin A is the dominant antibody isotype found in mucosal secretions and enforces host-microbiota symbiosis in mice, yet selective IgA-deficiency (sIgAd) in humans is often described as asymptomatic. Here, we determined the effects of IgA deficiency on human gut microbiota composition and evaluated the possibility that mucosal secretion of IgM can compensate for a lack of secretory IgA. We used 16S rRNA gene sequencing and bacterial cell sorting to evaluate gut microbiota composition and taxa-specific antibody coating of the gut microbiota in 15 sIgAd subjects and matched controls. Despite the secretion of compensatory IgM into the gut lumen, sIgAd subjects displayed an altered gut microbiota composition as compared to healthy controls. These alterations were characterized by a trend towards decreased overall microbial diversity as well as significant shifts in the relative abundances of specific microbial taxa. While secretory IgA in healthy controls targeted a defined subset of the microbiota via high-level coating, compensatory IgM in sIgAd subjects showed less specificity than IgA and bound a broader subset of the microbiota. We conclude that IgA plays a critical and non-redundant role in controlling gut microbiota composition in humans and that secretory IgA has evolved to maintain a diverse and stable gut microbial community.


Assuntos
Bactérias/classificação , Disbiose/imunologia , Imunoglobulina A Secretora/metabolismo , Imunoglobulina M/metabolismo , Adulto , Bactérias/genética , Bactérias/isolamento & purificação , Estudos de Casos e Controles , DNA Ribossômico/genética , Disbiose/microbiologia , Feminino , Humanos , Masculino , Filogenia , RNA Ribossômico 16S/genética , Análise de Sequência de DNA
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