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1.
J Pediatr Gastroenterol Nutr ; 75(3): 340-344, 2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-35641894

RESUMO

OBJECTIVES: Nutrition support is essential in improving outcome and survival in children on extra corporal membranous support (ECMO). We aim to evaluate the association between the timing of enteral nutrition (EN) initiation and its impact on outcome. METHODS: We retrospectively reviewed the electronic health records of children (≤18 years) from November 2014 to November 2019 who were on veno-arterial ECMO for ≥48 hours. Abstracted data included demographics, ECMO indication and duration, timing of EN initiation, change in weight-for-age z score (WAZ), and survival rate. The vasoactive-inotropic score (VIS) was calculated to assess illness acuity. RESULTS: We identified 76 children with median age (interquartile range [IQR]) of 0.3 years (0-2.6), 46 of which were infants (59%) who required ECMO for a median (IQR) of 10 days (6-22). Thirty-six (47%) survived to hospital discharge. EN was initiated in 55 (72%) of patients while on ECMO. EN initiation by day 3 of ECMO was positively associated with survival ( P = 0.0438). VIS at the time of EN initiation was lower in surviving infants ( P = 0.022). Children who achieved enteral autonomy were more likely to survive ( P = 0.0024). Survivors had greater WAZs at ECMO completion ( P = 0.0004). CONCLUSIONS: Initiation of EN by day 3 of ECMO and at a lower VIS is associated with greater likelihood of survival.


Assuntos
Oxigenação por Membrana Extracorpórea , Criança , Nutrição Enteral , Humanos , Lactente , Estudos Retrospectivos , Taxa de Sobrevida , Resultado do Tratamento
2.
Cureus ; 13(8): e17409, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34589320

RESUMO

OBJECTIVE: Pediatric feeding disorder (PFD) is defined as impaired oral intake, associated with dysfunction in at least one of four domains: medical, nutritional, feeding skill, and/or psychosocial. The pediatric aerodigestive patient presents with conditions impacting airway, breathing, feeding, swallowing, or growth. The objective of the study was to determine the prevalence of PFD and dysfunctional domain, in the aerodigestive patient presenting to a tertiary aerodigestive clinic. METHODS:  Twenty-five charts from patients enrolled in Mayo Clinic Children's Center Aerodigestive Program were retrospectively reviewed for documentation of dysfunction within the four feeding disorder domains. Results from the aerodigestive triple scope, functional endoscopic evaluation of swallow (FEES), and videofluoroscopic swallow study (VFSS) were recorded. Height and weight z-scores were compared between the initial assessment and 6-12 months later. RESULTS: Median age was 20 months (range 2-81 months). Of the patients, 100% (n = 25) had dysfunction in at least one PFD domain. The domain identified most frequently was medical dysfunction (96%; n = 24). Feeding dysfunction was observed in 76% (n = 19). Psychosocial dysfunction was observed in 76% (n = 19). Nutritional dysfunction was observed in 60% (n = 15). Dysfunction in three or greater domains was seen in 80% (n = 20). Weight z-score increased in 76% (n = 19) of patients 6 to 12 months after the initial aerodigestive evaluation. CONCLUSION:  Aerodigestive patients frequently have PFD and utilizing the consensus definition of PFD at intake may enhance clinical assessment and therapeutic evaluation, and provide a framework to measure outcomes in this heterogeneous patient population.

3.
JPGN Rep ; 2(3): e085, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37205953

RESUMO

Mutations in the hepatocyte nuclear factor-1-beta (HNF1B) gene cause a variety of diseases in different organ systems. Mutations have been described as causing neonatal cholestasis, maturity-onset diabetes of the young (type 5), cortical renal cysts, urogenital abnormalities, liver dysfunction, and atrophy of the pancreas. We describe a male patient who presented with cholestatic liver disease in infancy which progressed by age 14 to end-stage liver disease due to HNF1B disease. He subsequently underwent liver transplantation at age 15 and then developed diabetes requiring insulin which did not resolve after cessation of corticosteroids. To our knowledge, this is the first case reported of liver transplantation for decompensated cirrhosis secondary to HNF1B disease.

4.
Eur J Med Genet ; 63(4): 103817, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31778854

RESUMO

BACKGROUND: DGAT1, a gene encoding a protein involved in lipid metabolism, has been recently implicated in causing a rare nutritional and digestive disease presenting as Congenital Diarrheal Disorder (CDD). Genetic causes of malnutrition can be classified as metabolic disorders, caused by loss of a specific enzyme's function. However, disease driven by genetic variants in lipid metabolism genes is not well understood, and additional information is needed to better understand these effects. METHODS: We gathered a multi-institutional cohort of undiagnosed patients with a constellation of phenotypes presenting as malnutrition and metal ion dysregulation. Clinical Whole Exome Sequencing (WES) was performed on four patients and their unaffected parents. We prioritized genetic variants based on multiple criteria including population allele frequency and presumed inheritance pattern, and identified a candidate gene. Computational modeling was used to investigate if the altered amino acids are likely to result in a dysfunctional enzyme. RESULTS: We identified a multi-institutional cohort of patients presenting with malnutrition-like symptoms and likely pathogenic genomic variants within DGAT1. Multiple approaches were used to profile the effect these variants have on protein structure and function. Laboratory and nutritional intervention studies showed rapid and robust patient responses. CONCLUSIONS: This report adds on to the database for existing mutations known within DGAT1, a gene recently implicated with CDD, and also expands its clinical spectrum. Identification of these DGAT1 mutations by WES has allowed for changes in the patients' nutritional rehabilitation, reversed growth failure and enabled them to be weaned off of total parenteral nutrition (TPN).


Assuntos
Diacilglicerol O-Aciltransferase/genética , Diarreia/genética , Desnutrição/genética , Diarreia/dietoterapia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Desnutrição/dietoterapia , Mutação , Sequenciamento do Exoma
5.
Int J Pediatr Otorhinolaryngol ; 113: 119-123, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30173969

RESUMO

OBJECTIVE: This study sought to evaluate the impact of an interdisciplinary care model for pediatric aerodigestive patients in terms of efficiency, risk exposure, and cost. METHODS: Patients meeting a standard clinical inclusion definition were studied before and after implementation of the aerodigestive program. RESULTS: Aerodigestive patients seen in the interdisciplinary clinic structure achieved a reduction in time to diagnosis (6 vs 150 days) with fewer required specialist consultations (5 vs 11) as compared to those seen in the same institution prior. Post-implementation patients also experienced a significant reduction in risk, with fewer radiation exposures (2 vs 4) and fewer anesthetic episodes (1 vs 2). Total cost associated with the diagnostic evaluation was significantly reduced from a median of $10,374 to $6055. CONCLUSION: This is the first study to utilize a pre-post cohort to evaluate the reduction in diagnostic time, risk exposure, and cost attributable to the reorganization of existing resources into an interdisciplinary care model. This suggests that such a model yields improvements in care quality and value for aerodigestive patients, and likely for other pediatric patients with chronic complex conditions.


Assuntos
Gastroenteropatias/diagnóstico , Gastroenteropatias/terapia , Equipe de Assistência ao Paciente/organização & administração , Doenças Respiratórias/diagnóstico , Doenças Respiratórias/terapia , Criança , Pré-Escolar , Eficiência Organizacional , Feminino , Gastroenteropatias/economia , Humanos , Lactente , Masculino , Modelos Organizacionais , Doenças Respiratórias/economia , Estudos Retrospectivos
6.
Pediatrics ; 141(3)2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29437862

RESUMO

Aerodigestive programs provide coordinated interdisciplinary care to pediatric patients with complex congenital or acquired conditions affecting breathing, swallowing, and growth. Although there has been a proliferation of programs, as well as national meetings, interest groups and early research activity, there is, as of yet, no consensus definition of an aerodigestive patient, standardized structure, and functions of an aerodigestive program or a blueprint for research prioritization. The Delphi method was used by a multidisciplinary and multi-institutional panel of aerodigestive providers to obtain consensus on 4 broad content areas related to aerodigestive care: (1) definition of an aerodigestive patient, (2) essential construct and functions of an aerodigestive program, (3) identification of aerodigestive research priorities, and (4) evaluation and recognition of aerodigestive programs and future directions. After 3 iterations of survey, consensus was obtained by either a supermajority of 75% or stability in median ranking on 33 of 36 items. This included a standard definition of an aerodigestive patient, level of participation of specific pediatric disciplines in a program, essential components of the care cycle and functions of the program, feeding and swallowing assessment and therapy, procedural scope and volume, research priorities and outcome measures, certification, coding, and funding. We propose the first consensus definition of the aerodigestive care model with specific recommendations regarding associated personnel, infrastructure, research, and outcome measures. We hope that this may provide an initial framework to further standardize care, develop clinical guidelines, and improve outcomes for aerodigestive patients.


Assuntos
Gastroenteropatias/terapia , Equipe de Assistência ao Paciente/organização & administração , Desenvolvimento de Programas , Doenças Respiratórias/terapia , Criança , Técnica Delphi , Pesquisa sobre Serviços de Saúde/organização & administração , Humanos , Pesquisa Interdisciplinar/organização & administração , Terminologia como Assunto , Estados Unidos
7.
Paediatr Drugs ; 20(2): 173-180, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29243034

RESUMO

BACKGROUND: Gastrointestinal (GI) motility disorders are common in children. Treatment is challenging with limited medical and surgical options. Pyridostigmine, an acetyl cholinesterase inhibitor, increases acetylcholine at the neuromuscular junction promoting intestinal contractions. Little is known about the role and dosing of pyridostigmine in pediatric GI motility disorders. METHODS: We present a case series of children with GI dysmotility managed with oral pyridostigmine. Patients' diagnoses include chronic intestinal pseudo-obstruction, gastroparesis with delayed small bowel transit, chronic constipation with failure to thrive, and prolonged ileus after pelvic surgery with chronic opioid use. RESULTS: Pyridostigmine was effective and safe in all cases. Pyridostigmine decreased abdominal distention, increased bowel movement frequency, and improved enteral feeding tolerance. Effective dosing ranged between 0.25-2.0 mg/kg/day. One patient experienced cramping abdominal pain while on pyridostigmine, but pain resolved after medication was discontinued. CONCLUSION: We found oral pyridostigmine to be helpful in children with different GI motility problems. Pyridostigmine should be considered in such patients when other treatment interventions have not been beneficial.


Assuntos
Inibidores da Colinesterase/uso terapêutico , Constipação Intestinal/tratamento farmacológico , Motilidade Gastrointestinal/efeitos dos fármacos , Gastroparesia/tratamento farmacológico , Íleus/tratamento farmacológico , Brometo de Piridostigmina/uso terapêutico , Adolescente , Criança , Doença Crônica , Constipação Intestinal/fisiopatologia , Feminino , Trânsito Gastrointestinal/efeitos dos fármacos , Gastroparesia/fisiopatologia , Humanos , Íleus/fisiopatologia , Pseudo-Obstrução Intestinal/tratamento farmacológico , Pseudo-Obstrução Intestinal/fisiopatologia , Intestino Delgado/efeitos dos fármacos , Intestino Delgado/fisiopatologia , Masculino
8.
J Pediatr Gastroenterol Nutr ; 65(1): 58-63, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28045773

RESUMO

BACKGROUND: The association between celiac disease (CD) and eosinophilic esophagitis (EoE) has been the focus of multiple studies with variable results. Both diseases are immune mediated, and dietary triggers play a role in their pathogenesis. OBJECTIVES: The aim of the study was to analyze the risk of EoE in children with CD, assess the magnitude of association between CD and EoE in children, and report the characteristics and outcomes of children with both conditions. METHODS: We conducted a retrospective study of the Mayo Clinic Electronic medical records between January 1, 1998 and December 31, 2015. Systematic review and meta-analysis of multiple databases was conducted to include studies reporting on the same association. Random-effects model was used to report pooled odds ratio (OR) and 95% confidence interval (CI). RESULTS: In this cohort study, of 10,201 children who underwent at least 1 endoscopy, 595 had EoE, and 546 had CD. The risk of having EoE was not increased in children with CD compared to those without CD (OR, 0.29; 95% CI, 0.154-0.545). Nine of 10 children improved with gluten-free diet, topical glucocorticosteroid, and/or elimination diet. One child lost to follow-up.Meta-analysis of 5 studies showed similar results (OR, 0.525; 95% CI, 0.364-0.797). A total of 45 cases in the literature had both CD and EoE (mean age, 10 years; 64% boys; majority presenting with abdominal pain, vomiting, and diarrhea). CONCLUSIONS: Based on our cohort and the observational data, the diagnosis of CD in children is not associated with increased risk of EoE.


Assuntos
Doença Celíaca/complicações , Esofagite Eosinofílica/etiologia , Adolescente , Doença Celíaca/diagnóstico , Doença Celíaca/dietoterapia , Criança , Pré-Escolar , Dieta Livre de Glúten , Esofagite Eosinofílica/diagnóstico , Esofagite Eosinofílica/dietoterapia , Feminino , Humanos , Masculino , Modelos Estatísticos , Razão de Chances , Estudos Retrospectivos , Fatores de Risco
9.
J Oral Maxillofac Surg ; 72(10): 2043-51, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24997023

RESUMO

PURPOSE: To assess the prevalence of gastrointestinal (GI) bleeding in patients after orthognathic surgery and its relation to known risk factors. PATIENT AND METHODS: With institutional review board approval, a single-center case series was conducted with data collected retrospectively from orthognathic surgical patients' medical records from 1990 to 2010. All patients were treated by 1 primary surgeon, were limited to 21 years or younger at the time of surgery, and had no coagulopathy. The authors' hypothesis was that patients concurrently exposed to mechanical ventilation and dual anti-inflammatory drugs in the postoperative period would be at a greater risk for clinically significant GI bleeding according to the American Society of Health-System Pharmacists guideline compared with those exposed to fewer risk factors. Its prevalence and relation to known risk factors were analyzed. RESULTS: In total 498 orthognathic cases consisting of 220 male patients (median age, 17 yr; age range, 3 to 21 yr) and 262 female patients (median age, 17 yr; age range, 10 to 21 yr) were reviewed. Of 17 patients admitted to intensive care unit level of care postoperatively, 4 patients were exposed to concomitant administration of ketorolac and steroids while being mechanically ventilated. Two of these 4 patients developed esophagogastroduodenoscopy-confirmed upper GI bleeding (UGIB). There was no incidence of UGIB in patients not exposed to all 3 risk factors concurrently. CONCLUSIONS: Postoperative GI bleeding complication is rare in orthognathic surgical patients, with an estimated prevalence of 0.4%. Based on these observations, orthognathic surgical patients who require mechanical ventilation and are receiving anti-inflammatory medications may have an increased risk of GI bleeding. In the absence of active bleeding from the surgical site, persistent decrease in hemoglobin concentration should alert one to consider the possibility of UGIB.


Assuntos
Hemorragia Gastrointestinal/epidemiologia , Procedimentos Cirúrgicos Ortognáticos/estatística & dados numéricos , Hemorragia Pós-Operatória/epidemiologia , Adolescente , Corticosteroides/uso terapêutico , Anti-Inflamatórios não Esteroides/uso terapêutico , Transplante Ósseo/estatística & dados numéricos , Criança , Pré-Escolar , Cuidados Críticos/estatística & dados numéricos , Endoscopia do Sistema Digestório/estatística & dados numéricos , Feminino , Hemorragia Gastrointestinal/etiologia , Humanos , Cetorolaco/uso terapêutico , Masculino , Minnesota/epidemiologia , Osteotomia de Le Fort/estatística & dados numéricos , Osteotomia Sagital do Ramo Mandibular/estatística & dados numéricos , Prevalência , Respiração Artificial/estatística & dados numéricos , Estudos Retrospectivos , Fatores de Risco , Adulto Jovem
10.
J Laparoendosc Adv Surg Tech A ; 24(2): 104-10, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24328507

RESUMO

BACKGROUND: The existence, etiology, diagnosis, and treatment of median arcuate ligament syndrome (MALS) have long been subjects of debate. To our knowledge, there have not been any studies assessing the effectiveness of surgical treatment in improving physical and psychological quality of life in pediatric patients. SUBJECTS AND METHODS: This is an Institutional Review Board-approved prospective study including all patients undergoing surgical treatment of MALS between 2009 and 2012 at our institution. Demographic information, presenting symptoms, radiological imaging, procedure duration, hospital length of stay, and perioperative complications were gathered for analysis. Patients and their parents were asked to complete the Child Health Questionnaire, a physical and psychological health survey, both within 1 week prior to and at least 3 months following their surgery. RESULTS: Six patients underwent laparoscopic release for MALS. The majority of patients were female (n=5 [83.3%]), with an average age of 15.7±1.5 years. Presenting symptoms lasted on average 16.5±12.7 months prior to treatment. Average pre- and postsurgical ultrasound celiac artery peak velocities with inspiration were 332.0±34.1 cm/second and 224.3±31.2 cm/second, respectively, with a statistically significant decrease of 107.67 cm/second (P=.03). The average follow-up period from time of surgery to time of quality of life survey completion was 13±11.3 months, with a range of 3-29 months. A significant improvement from pre- to postsurgical scores was observed in the physical functioning (P=.03), mental health (P=.03), and self-esteem categories (P=.03) of the child assessment. Similarly, there was a significant postsurgical improvement in all categories pertaining to the parent's quality of life (P=.03). Improvement was also seen in the parents' perception of their child's physical functioning (P=.03), bodily pain/discomfort (P=.03), mental health (P=.03), and general health perceptions (P=.03). No intraoperative or postoperative complications occurred. CONCLUSIONS: Our preliminary results demonstrate that laparoscopic median arcuate ligament release for MALS in the pediatric population is safe and effective and improves overall quality of life for the patients and their parents. In carefully selected patients, laparoscopic release for MALS without additional celiac artery reconstruction normalizes blood flow in the celiac artery and improves physical and psychosocial quality of life for the child and his or her parents.


Assuntos
Artéria Celíaca/anormalidades , Constrição Patológica/psicologia , Constrição Patológica/cirurgia , Laparoscopia/métodos , Qualidade de Vida , Adolescente , Artéria Celíaca/cirurgia , Constrição Patológica/diagnóstico , Feminino , Humanos , Tempo de Internação , Masculino , Síndrome do Ligamento Arqueado Mediano , Duração da Cirurgia , Cuidados Pós-Operatórios/métodos , Estudos Prospectivos , Inquéritos e Questionários , Resultado do Tratamento
11.
Case Rep Gastroenterol ; 7(2): 327-31, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24019765

RESUMO

Pylephlebitis with associated liver abscesses is a rare complication of Crohn's disease that usually presents in the setting of active disease and recent escalation of the immunosuppressive regimen. Here we describe a 17-year-old female patient with active Crohn's disease who presented with a clinical picture and hepatic radiographic findings concerning for pylephlebitis and associated liver abscesses but subsequently confirmed to be an atypical form of focal fatty liver infiltration. We describe the diagnostic difficulty this unique distribution of hepatic fatty infiltration can present and highlight the importance of the different imaging studies to differentiate between atypical focal fatty infiltration and pylephlebitis.

12.
Dysphagia ; 25(3): 221-30, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19856027

RESUMO

The aim of this study was to develop the Mayo Dysphagia Questionnaire-30 Day (MDQ-30), a tool to measure esophageal dysphagia, by adapting items from validated instruments for use in clinical trials, and assess its feasibility, reproducibility, and concurrent validity. Outpatients referred to endoscopy for dysphagia or seen in a specialty clinic were recruited. Feasibility testing was done to identify problematic items. Reproducibility was measured by test-retest format. Concurrent validity reflects agreement between information gathered in a structured interview versus the patients' written responses. The MDQ-30, a 28-item instrument, took 10 min (range = 5-30 min) to complete. Four hundred thirty-one outpatients [210 (49%) men; mean age = 61 years] participated. Overall, most concurrent validity kappa values for dysphagia were very good to excellent with a median of 0.78 (min 0.28, max 0.95). The majority of reproducibility kappa values for dysphagia were moderate to excellent with a median kappa value of 0.66 (min 0.07, max 1.0). Overall, concurrent validity and reproducibility kappa values for gastroesophageal reflux disease (GERD) symptoms were 0.81 (95% CI = 0.72, 0.91) and 0.66 (95% CI = 0.55, 0.77), respectively. Individual item percent agreement was generally very good to excellent. Internal consistency was excellent. We conclude that the MDQ-30 is an easy-to-complete tool to evaluate reliably dysphagia symptoms over the last 30 days.


Assuntos
Transtornos de Deglutição/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Intervalos de Confiança , Deglutição , Transtornos de Deglutição/tratamento farmacológico , Doenças do Esôfago/diagnóstico , Doenças do Esôfago/tratamento farmacológico , Estudos de Viabilidade , Feminino , Indicadores Básicos de Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Pacientes Ambulatoriais , Reprodutibilidade dos Testes , Fatores de Risco , Inquéritos e Questionários , Adulto Jovem
13.
J Pediatr Gastroenterol Nutr ; 46(3): 285-8, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18376245

RESUMO

OBJECTIVE: To describe the relationships between gastric emptying, autonomic function, and postural tachycardia in adolescent patients with nausea and/or abdominal discomfort. It was hypothesized that patients with both gastrointestinal symptoms and symptoms of orthostatic intolerance are more likely to show abnormal tilt table results and delayed gastric emptying. PATIENTS AND METHODS: A retrospective review was conducted of adolescent patients who came to a pediatric referral center because of nausea and dyspepsia and who subsequently underwent both autonomic reflex screening and gastric emptying testing. Patients with a heart rate change of 30 or more beats per minute on the heads-up tilt table test were assigned to the postural orthostatic tachycardia syndrome (POTS) group (n = 21), and those with a heart rate change of fewer than 30 beats per minute on the heads-up tilt table test were assigned to the non-POTS group (n = 10). RESULTS: There was no significant difference between the POTS and non-POTS groups with regard to presenting symptoms (P > 0.05). Overall, 13 (42%) individuals had abnormal gastric emptying results (delayed in 6, accelerated in 7), but gastric emptying scores were similar between the POTS and non-POTS groups. Furthermore, there was no correlation between an individual's gastric emptying results at 1, 2, and 4 hours and that person's heart rate change on HUT (r = -0.05, -0.15, and -0.19). CONCLUSIONS: Although altered gastric emptying and postural tachycardia are common in a referral population of adolescents with nausea and/or abdominal discomfort, the clinical presentation was not predictive of test results. Furthermore, delayed gastric emptying was not correlated with the current definition of postural tachycardia.


Assuntos
Esvaziamento Gástrico/fisiologia , Motilidade Gastrointestinal/fisiologia , Frequência Cardíaca/fisiologia , Sistema Nervoso Simpático/fisiopatologia , Taquicardia/fisiopatologia , Teste da Mesa Inclinada , Dor Abdominal/etiologia , Adolescente , Estudos de Casos e Controles , Criança , Tontura/etiologia , Feminino , Humanos , Masculino , Náusea/etiologia , Valor Preditivo dos Testes , Estudos Retrospectivos
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