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PURPOSE: Congenital diaphragmatic hernia (CDH) affects 1 in 3000-5000 newborns. In survivors, long-term complications include gastroesophageal reflux (GER), feeding difficulties, and failure to thrive. Data from the parents' perspective remain scarce. This study aims to report the prevalence and impact of feeding difficulties on CDH families after discharge. METHODS: National web-based survey amongst families with CDH infants in 2021. RESULTS: Caregivers of 112 CDH survivors participated. The baseline characteristics were representative with 54 % male, 83 % left-sided CDH, prenatal diagnosis in 83 %, and 34 % requiring extracorporeal membrane oxygenation. Most infants (81 %) were discharged within three months, with 62 % feeding by mouth, and 30 % requiring a feeding tube. Persisting feeding difficulties were experienced by 73 %, GER being the most common (66 %), followed by insufficient weight gain (64 %). After discharge, 41 % received medical support for failure to thrive. The primary-care pediatrician was consulted most frequently for information (61 %) and treatment of feeding difficulties (74 %). Therapeutic success was reported in 64 %. A cessation of symptoms was achieved in 89 % within three years. CONCLUSION: The majority of CDH infants had persistent feeding difficulties. This survey highlights the impact surrounding feeding problems on CDH families. Further studies and support systems are needed to raise the quality of life in CDH infants and their families.
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Hérnias Diafragmáticas Congênitas , Pais , Humanos , Hérnias Diafragmáticas Congênitas/complicações , Hérnias Diafragmáticas Congênitas/terapia , Masculino , Feminino , Recém-Nascido , Alta do Paciente , Lactente , Insuficiência de Crescimento/etiologia , Insuficiência de Crescimento/epidemiologia , Insuficiência de Crescimento/terapiaRESUMO
Failure to thrive (FTT) is an inadequate growth in young children. It can increase the risk of overweight or obesity later in life. Patients with renal tubulopathies can present FTT due to solute losses in the urine. We aimed to test our hypothesis that children with tubulopathies have an increased risk of overweight and obesity due to rebound following FTT that could complicate these conditions. We enrolled 26 patients with tubulopathies and evaluated for the first time within the first 12 months of life (mean age: 4.8 months ± 2.6 SDS). FTT was evident in 17 out of 26 patients (65.4%). The mean age at the last follow-up was 14.1 years ± 5.5 SDS. The mean age at overweight/obesity onset was 9.0 years ± 3.6 SDS. The prevalence of overweight/obesity was 73.1% (19/26). Among the patients with FTT, 15 (88.2%) developed overweight/obesity compared to 4 out of the 9 patients (44.4%) without FFT (p = 0.028). The presence of FTT determined an OR for obesity/overweight of 9.4 (95% CI: 1.3-67.6; p = 0.026). FTT continued to be significantly associated with obesity/overweight also after adjustment for preterm birth and birth weight <10th percentile (OR = 23.3; 95% CI: 1.95-279.4; p = 0.01). In conclusion, in our series, patients with tubulopathies presented an increased risk of overweight/obesity due to the FTT that can complicate these conditions.
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Insuficiência de Crescimento , Nascimento Prematuro , Criança , Feminino , Humanos , Recém-Nascido , Pré-Escolar , Lactente , Adolescente , Insuficiência de Crescimento/epidemiologia , Insuficiência de Crescimento/etiologia , Sobrepeso/complicações , Sobrepeso/epidemiologia , Obesidade/complicações , Obesidade/epidemiologia , Peso ao Nascer , Redução de PesoRESUMO
OBJECTIVES: This study examines the sociodemographic differences between elective and nonelective admissions for failure to thrive (FTT). We investigate associations between admission type and hospital resource utilization, including length of stay and feeding tube placement. METHODS: We included children <2 years old with FTT in the nationwide Kids' Inpatient Database. We described differences between elective and nonelective admissions using Fisher exact and t tests. To assess associations of admission type and hospital resource utilization, we used negative binomial and logistic regression for length of stay and feeding tube placement, respectively. RESULTS: In this study of 45,920 admissions (37,224 nonelective vs 8696 elective), we found differences by race and ethnicity, income, and insurance type, among other factors. Compared to elective admissions, nonelective admissions had higher proportions of infants who were Black, Hispanic, and of lower-income. Nonelective admissions were associated with longer lengths of stay (incidence rate ratio 1.46; 95% CI: 1.37-1.55), independent of child age, sex, neighborhood income, insurance, admission day, chronic conditions, and location. Nonelective admissions were associated with lower odds of feeding tube placement compared to elective admissions (adjusted odds ratio 0.62; 0.56-0.68). In the stratified analyses, children of racial and ethnic minority groups admitted nonelectively versus electively had relatively higher odds of feeding tube placement, while White children had relatively lower odds of feeding tube placement. CONCLUSION: There are various sociodemographic differences between elective and nonelective FTT admissions. Future research is warranted to elucidate drivers of these differences, particularly those related to racial and ethnic disparities and structural racism.
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Etnicidade , Insuficiência de Crescimento , Hospitalização , Criança , Pré-Escolar , Humanos , Lactente , Insuficiência de Crescimento/epidemiologia , Grupos MinoritáriosRESUMO
Limited data exist regarding the relationship between socioeconomic risk factors and failure to thrive (FTT). Using data from the National Health and Nutrition Examination Survey (NHANES) from years 1999 to 2014, we sought to determine whether there was a higher prevalence of underweight (<5th percentile weight-for-age [WFA], weight-for-length [WFL], or body mass index-for-age [BFA]), and, therefore, likely a higher risk of FTT, in US children <3 years with low household income or food insecurity compared with children without these factors. Among 7356 evaluated children, there were no significant differences in the prevalence of underweight by adjusted household income quintile, food security, household Women, Infants, and Children (WIC) status, or federal poverty income ratio. These findings do not support a link between low income or food security and underweight in children and, therefore, do not provide support for an association between low income or food security and FTT.
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Insuficiência de Crescimento , Magreza , Lactente , Criança , Humanos , Feminino , Inquéritos Nutricionais , Magreza/epidemiologia , Insuficiência de Crescimento/epidemiologia , Fatores de Risco , Insegurança Alimentar , Abastecimento de AlimentosRESUMO
While it is known that intrauterine growth restriction is associated with later mental disorders, it is still unclear whether similar associations exists for postnatal weight faltering, also known as 'failure to thrive' in infancy. This study examined the potential connection between infancy weight faltering and mental disorders diagnosed in childhood focusing specifically on neurodevelopmental disorders. The Copenhagen Child Cohort (CCC2000) was used to explore weight gain in infancy assessed by community health nurses. Data from the Danish national registries were used to quantify ICD-10 mental disorders diagnosed between birth and 12 years of age, as well as potential child and family confounders. Of 4.476 children with sufficient weight data, 339 (7.3%) children were diagnosed with a mental disorder in childhood. Both any (weight gain < -1SD) and severe infancy weight faltering (weight gain < -2SD) were associated with psychomotor delays, while severe infancy weight faltering was also associated with intellectual impairments. Notably, no significant associations were found between weight faltering and autism spectrum disorders or attention deficit hyperactivity disorders. Weight faltering in infancy may be an early marker of neurodevelopmental delays. This possibility should be considered when assessing infants with slow weight gain, to early identification and treatment of co-occurring neurodevelopmental disorders.
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Transtorno do Espectro Autista , Transtornos do Neurodesenvolvimento , Criança , Lactente , Humanos , Estudos de Coortes , Aumento de Peso , Insuficiência de Crescimento/diagnóstico , Insuficiência de Crescimento/epidemiologia , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/epidemiologiaRESUMO
Long-term growth failure can have negative impact on health (by increasing morbidity and mortality) and on neurodevelopmental outcomes. Its prevalence among children with congenital heart disease (CHD) is not well described. The aim of our study was to evaluate the prevalence of growth failure in a population of infants with CHD away from cardiac surgery and identify associated factors. We conducted a retrospective and multicentric study that included infants from the North of France who underwent cardiac surgery before the age of one, between January 2013 and December 2017. 331 infants were included among which 48% had a prenatal diagnosis, 15% had a genetic syndrome, and 15% were premature infants. Mean birth weight was 3 ± 0.6 kg. At surgery, 35% presented feeding difficulties (need for enriched formula and/or feeding tube) and 14% had growth failure (defined by Z-score weight for age < -2SD). 6-12 months after surgery, 16% still presented growth failure. Several associated factors were identified: prenatal diagnosis, genetic syndrome association, birth weight ≤ 3 kg, complex CHD (≥ 2 significative lesions, or double outlet right ventricle or single ventricle physiology), surgery after 30 days, and need for diuretic drug before surgery and/or still needed 1 month after surgery. Growth failure persists between 6 and 12 months after surgery in 16% of infants with CHD. More studies are needed to link growth failure and neurodevelopment, which is the new challenge for this aging population.
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Procedimentos Cirúrgicos Cardíacos , Cardiopatias Congênitas , Lactente , Recém-Nascido , Criança , Humanos , Idoso , Estudos Retrospectivos , Prevalência , Peso ao Nascer , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/cirurgia , Cardiopatias Congênitas/diagnóstico , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Insuficiência de Crescimento/epidemiologia , Insuficiência de Crescimento/etiologia , DiuréticosRESUMO
INTRODUCTION: Laboratory investigations pursued for infants with failure to thrive (FTT) often show mild transaminase elevations, the incidence and significance of which are unknown. METHODS: This retrospective chart review included infants diagnosed with simple nutritional FTT at a single academic tertiary care system. Comparisons of diagnostic studies and outcomes between children with and without transaminase elevation were performed using chi-square and Wilcoxon rank sum tests. RESULTS: None of the infants with abnormal transaminases required additional follow-up or developed alternative diagnoses in the following year. DISCUSSION: Transaminase elevation may be common in infants with FTT and may not warrant further investigation if the history indicates an isolated etiology of insufficient nutrition.
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Insuficiência de Crescimento , Transaminases , Criança , Insuficiência de Crescimento/diagnóstico , Insuficiência de Crescimento/epidemiologia , Insuficiência de Crescimento/etiologia , Humanos , Incidência , Lactente , Estudos RetrospectivosRESUMO
OBJECTIVES: Clinical presentation of pediatric celiac disease (CD) is heterogeneous and ever-evolving. Our aim is to highlight its changes throughout the years. METHODS: Data about clinical presentation of CD in children diagnosed between 1990 and 2020 at the CD Center of Maggiore Hospital, Bologna, were collected. Patients were stratified into groups based on the date [P1 (1990-2011), P2 (2012-2020)] and age [G1 (< 2 years), G2 (2-5), G3 (6-11), G4 (12-18)] at diagnosis, then investigated by comparing CD clinical presentation in different periods and ages. RESULTS: 1081 children were selected. Mean age at diagnosis increases from 5.9 to 6.6 years from P1 to P2. Gastrointestinal Symptoms (GIs) are predominant, with a decline of diarrhea (47%VS30%) and an increase of constipation (4%VS19%) (p < 0.001). Among Extraintestinal symptoms (EIs) a decrease of anemia (76%VS43%, p = 0,001) is observed. Failure to Thrive (FTT) is stable throughout the years (p = 0.03), while screenings show a trend of increment (19%VS23%). GIs' frequency decline from G1 to G4 (p = 0,001), with reduction of diarrhea (p < 0.001), and rise of recurrent abdominal pain (p = 0,02). EIs are more frequent at older ages, FTT in younger patients. CONCLUSIONS: Changes in clinical presentation of CD have occurred in the last 30 years. We observe a reduction of severe and classic gastroenterologic symptoms and a rise of atypical ones, together with a growth of serological screenings and higher age at diagnosis. Awareness about CD clinical trends is crucial for a proper approach and early diagnosis.
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Doença Celíaca/diagnóstico , Dor Abdominal/epidemiologia , Adolescente , Fatores Etários , Anemia/epidemiologia , Doença Celíaca/epidemiologia , Criança , Pré-Escolar , Constipação Intestinal/epidemiologia , Diarreia/epidemiologia , Insuficiência de Crescimento/epidemiologia , Feminino , Humanos , Itália/epidemiologia , Masculino , Estudos RetrospectivosRESUMO
Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical and molecular spectrum of WSS in diverse populations, to identify physical features that may be more prevalent in White versus Black Indigenous People of Color individuals, to delineate genotype-phenotype correlations, to define developmental milestones, to describe the syndrome through adulthood, and to examine clinicians' differential diagnoses. Sixty-nine of the 82 variants (84%) observed in the study were not previously reported in the literature. Common clinical features identified in the cohort included: developmental delay or intellectual disability (97%), constipation (63.8%), failure to thrive (67.7%), feeding difficulties (66.3%), hypertrichosis cubiti (57%), short stature (57.8%), and vertebral anomalies (46.9%). The median ages at walking and first words were 20 months and 18 months, respectively. Hypotonia was associated with loss of function (LoF) variants, and seizures were associated with non-LoF variants. This study identifies genotype-phenotype correlations as well as race-facial feature associations in an ethnically diverse cohort, and accurately defines developmental trajectories, medical comorbidities, and long-term outcomes in individuals with WSS.
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Predisposição Genética para Doença , Transtornos do Crescimento/genética , Histona-Lisina N-Metiltransferase/genética , Hipertricose/congênito , Deficiência Intelectual/genética , Proteína de Leucina Linfoide-Mieloide/genética , População Negra/genética , Constipação Intestinal/epidemiologia , Constipação Intestinal/genética , Constipação Intestinal/patologia , Insuficiência de Crescimento/epidemiologia , Insuficiência de Crescimento/genética , Insuficiência de Crescimento/patologia , Estudos de Associação Genética , Transtornos do Crescimento/epidemiologia , Transtornos do Crescimento/patologia , Humanos , Hipertricose/epidemiologia , Hipertricose/genética , Hipertricose/patologia , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/patologia , Mutação com Perda de Função/genética , Estudos Retrospectivos , População Branca/genéticaRESUMO
Growth delay with height and weight impairment is a common feature of pediatric inflammatory bowel diseases (PIBD). Up to 2/3 of Crohn Disease patients have impaired weight at diagnosis, and up to 1/3 have impaired height. Ulcerative colitis usually manifests earlier with less impaired growth, though patients can be affected. Ultimately, growth delay, if not corrected, can reduce final adult height. Weight loss, reduced bone mass, and pubertal delay are also concerns associated with growth delay in newly diagnosed PIBD patients. The mechanisms for growth delay in IBD are multifactorial and include reduced nutrient intake, poor absorption, increased fecal losses, as well as direct effects from inflammation and treatment modalities. Management of growth delay requires optimal disease control. Exclusive enteral nutrition (EEN), biologic therapy, and corticosteroids are the primary induction strategies used in PIBD, and both EEN and biologics positively impact growth and bone development. Beyond adequate disease control, growth delay and pubertal delay require a multidisciplinary approach, dependent on diligent monitoring and identification, nutritional rehabilitation, and involvement of endocrinology and psychiatry services as needed. Pitfalls that clinicians may encounter when managing growth delay include refeeding syndrome, obesity (even in the setting of malnutrition), and restrictive diets. Although treatment of PIBD has improved substantially in the last several decades with the era of biologic therapies and EEN, there is still much to be learned about growth delay in PIBD in order to improve outcomes.
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Colite Ulcerativa , Doença de Crohn , Insuficiência de Crescimento , Causalidade , Colite Ulcerativa/complicações , Colite Ulcerativa/terapia , Doença de Crohn/complicações , Doença de Crohn/terapia , Insuficiência de Crescimento/epidemiologia , Insuficiência de Crescimento/etiologia , Insuficiência de Crescimento/prevenção & controle , Humanos , Administração dos Cuidados ao Paciente/métodos , Administração dos Cuidados ao Paciente/tendênciasRESUMO
BACKGROUND: Older adults undergoing surgery are at risk for geriatric events (GEs: delirium, dehydration, falls or fractures, failure to thrive, and pressure ulcers). The prevalence and association of GEs with clinical outcomes after elective surgery is unclear. MATERIALS AND METHODS: Using the 2013-2014 National Inpatient Sample, we analyzed hospital admissions for the five most common elective procedures (total knee arthroplasty, right hemicolectomy, carotid endarterectomy, aortic valve replacement, and radical prostatectomy) in older adults (age ≥ 65). Our primary variable of interest was presence of any GE. Logistic regression estimated the association of GEs with (1) age group and (2) perioperative outcomes (mortality, postoperative complications, prolonged length of stay, and discharge to skilled nursing facility). RESULTS: Of 1,255,120 admissions, 66.5% were aged ≥65. The overall rate of any GE was 2.4% and increased with age (55-64 y: 1.5%; 65-74: 2.2%; ≥75: 4.1%; P < 0.001). After adjustment, the probability of any GE increased with age (P < 0.001). Rates of GEs varied by procedure (P < 0.001). In comparison with admissions with no GEs, one or more GE was associated with higher probability of worse outcomes including mortality, postoperative complications, prolonged length of stay, and discharge to skilled nursing facility (all P < 0.001). In addition, there was a dose-dependent relationship between GEs and these poor perioperative outcomes. CONCLUSIONS: GEs are strongly associated with poor perioperative outcomes. Efforts should focus on mutable factors responsible for GEs to optimize surgical care for older adults.
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Acidentes por Quedas/estatística & dados numéricos , Delírio/epidemiologia , Procedimentos Cirúrgicos Eletivos/efeitos adversos , Insuficiência de Crescimento/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Úlcera por Pressão/epidemiologia , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Pacientes Internados , Tempo de Internação , Masculino , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: To characterise the association between sepsis and postnatal weight growth when accounting for the degree of growth restriction present at birth. DESIGN: Retrospective matched cohort study using data from the Postnatal Growth and Retinopathy of Prematurity study. Participants were born with birth weights of <1500 g or gestational ages of <32 weeks between 2006 and 2011 at 29 neonatal centres in the USA and Canada. Sepsis was defined as a culture-confirmed bacterial or fungal infection of the blood or cerebrospinal fluid before 36 weeks' postmenstrual age (PMA). Growth was assessed as the change in weight z-score between birth and 36 weeks' PMA. RESULTS: Of 4785 eligible infants, 813 (17%) developed sepsis and 693 (85%) were matched 1:1 to controls. Sepsis was associated with a greater decline in weight z-score (mean difference -0.09, 95% CI -0.14 to -0.03). Postnatal weight growth failure (decline in weight z- score>1) was present in 237 (34%) infants with sepsis and 179 (26%) controls (adjusted OR 1.49, 95% CI 1.12 to 1.97). Longitudinal growth trajectories showed similar initial changes in weight z-scores between infants with and without sepsis. By 3 weeks after sepsis onset, there was a greater decline in weight z-scores relative to birth values in those with sepsis than without sepsis (delta z-score -0.89 vs -0.77; mean difference -0.12, 95% CI -0.18 to -0.05). This significant difference persisted until 36 weeks or discharge. CONCLUSION: Infants with sepsis had similar early weight growth trajectories as infants without sepsis but developed significant deficits in weight that were not apparent until several weeks after the onset of sepsis.
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Peso ao Nascer , Insuficiência de Crescimento , Recém-Nascido Prematuro/crescimento & desenvolvimento , Recém-Nascido de muito Baixo Peso/crescimento & desenvolvimento , Sepse Neonatal , Trajetória do Peso do Corpo , Canadá/epidemiologia , Pré-Escolar , Estudos de Coortes , Insuficiência de Crescimento/diagnóstico , Insuficiência de Crescimento/epidemiologia , Insuficiência de Crescimento/etiologia , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Masculino , Sepse Neonatal/complicações , Sepse Neonatal/epidemiologia , Sepse Neonatal/microbiologia , Sepse Neonatal/terapia , Estudos RetrospectivosRESUMO
OBJECTIVE: The aim of the study is to determine the prevalence of RASopathies in a polyhydramnios cohort selected by postnatal medical genetics evaluation. METHODS: In this retrospective study, we reviewed 622 pregnancies with polyhydramnios seen at Lucile Packard Children's Hospital between 2008 and 2017. The findings from 131 cases evaluated by Medical Genetics were included in our final analysis. Genetic testing information was extracted to determine the rate of chromosomal or single gene conditions focusing on the RASopathies. Additional variables collected were: maternal characteristics, ultrasound findings, and the severity and timing of diagnosis of polyhydramnios. RESULTS: Postnatal genetic testing or clinical examination identified a genetic disorder in 63 (48.1%) cases, more than half (n = 33) of which had a single gene condition. Postnatal testing revealed an underlying RASopathy in 15 (11.5%) cases. An underlying RASopathy was significantly associated with the severity and timing of polyhydramnios (p < 0.05). CONCLUSION: Focusing on a selected cohort postnatally evaluated by Medical Genetics, our study identified a chromosomal or genetic disorder in almost half of pregnancies complicated by polyhydramnios. Specifically, an underlying RASopathy was found in 11.5% of cases with 13/15 of these cases having additional ultrasound findings.
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Poli-Hidrâmnios/diagnóstico , Poli-Hidrâmnios/genética , Adulto , Malformações Arteriovenosas/diagnóstico , Malformações Arteriovenosas/epidemiologia , Malformações Arteriovenosas/genética , Capilares/anormalidades , Estudos de Coortes , Síndrome de Costello/diagnóstico , Síndrome de Costello/epidemiologia , Síndrome de Costello/genética , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/epidemiologia , Displasia Ectodérmica/genética , Fácies , Insuficiência de Crescimento/diagnóstico , Insuficiência de Crescimento/epidemiologia , Insuficiência de Crescimento/genética , Feminino , Testes Genéticos/métodos , Testes Genéticos/estatística & dados numéricos , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/genética , Humanos , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/epidemiologia , Síndrome de Noonan/genética , Poli-Hidrâmnios/epidemiologia , Mancha Vinho do Porto/diagnóstico , Mancha Vinho do Porto/epidemiologia , Mancha Vinho do Porto/genética , Gravidez , Prevalência , Estudos Retrospectivos , Ultrassonografia Pré-Natal/métodos , Ultrassonografia Pré-Natal/estatística & dados numéricosRESUMO
OBJECTIVES: To determine the incidence of refeeding syndrome in otherwise healthy children <3 years of age admitted for failure to thrive (FTT). METHODS: A multicenter retrospective cohort study was performed on patients aged ≤36 months admitted with a primary diagnosis of FTT from January 1, 2011, to December 31, 2016. The primary outcome measure was the percentage of patients with laboratory evidence of refeeding syndrome. Exclusion criteria included admission to an ICU, parenteral nutrition, history of prematurity, gastrostomy tube feeds, and any complex chronic conditions. RESULTS: Of the 179 patients meeting inclusion criteria, none had laboratory evidence of refeeding syndrome. Of these, 145 (81%) had laboratory work done at the time of admission, and 69 (39%) had laboratory work repeated after admission. A small percentage (6%) of included patients experienced an adverse event due to repeat laboratory draw. CONCLUSIONS: In otherwise healthy hospitalized patients <3 years of age with a primary diagnosis of FTT, routine laboratory monitoring for electrolyte derangements did not reveal any cases of refeeding syndrome. More robust studies are needed to determine the safety and feasibility of applying low-risk guidelines to this patient population to reduce practice variability and eliminate unnecessary laboratory evaluation and monitoring.
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Síndrome da Realimentação , Criança , Insuficiência de Crescimento/epidemiologia , Insuficiência de Crescimento/etiologia , Hospitalização , Humanos , Incidência , Síndrome da Realimentação/diagnóstico , Síndrome da Realimentação/epidemiologia , Estudos RetrospectivosRESUMO
Potocki-Lupski Syndrome (PTLS, MIM 610883), or duplication of chromosome 17p11.2, is a clinically recognizable condition characterized by infantile hypotonia, failure to thrive, developmental delay, intellectual disability, and congenital anomalies. Short stature, classified as greater than two standard deviations below the mean, has not previously been considered a major feature of PTLS. Retrospective chart review on a cohort of 37 individuals with PTLS was performed to investigate the etiology of short stature. Relevant data included anthropometric measurements, insulin growth factor-1 (IGF-1), insulin-like growth factor binding protein 3 (IGFBP-3), growth hormone (GH) stimulation testing, blood glucose levels, brain MRI, and bone age. Approximately 25% (9/37) of individuals with PTLS had short stature. Growth hormone deficiency (GHD) was definitively identified in two individuals. These two PTLS patients with growth hormone deficiency, as well as three others with short stature and no documented GHD, received growth hormone and obtained improvement in linear growth. One individual was identified to have pituitary abnormalities on MRI and had complications of hypoglycemia due to unrecognized GHD. Individuals with PTLS can benefit from undergoing evaluation for GHD should they present with short stature or hypoglycemia. Early identification of GHD could facilitate potential therapeutic benefit for individuals with PTLS, including linear growth, musculoskeletal, and in cases of hypoglycemia, potentially cognitive development as well.
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Anormalidades Múltiplas/genética , Transtornos Cromossômicos/genética , Duplicação Cromossômica/genética , Nanismo Hipofisário/genética , Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina/genética , Fator de Crescimento Insulin-Like I/genética , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/patologia , Adolescente , Adulto , Glicemia/genética , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Criança , Pré-Escolar , Transtornos Cromossômicos/diagnóstico por imagem , Transtornos Cromossômicos/epidemiologia , Transtornos Cromossômicos/patologia , Hibridização Genômica Comparativa , Nanismo Hipofisário/diagnóstico por imagem , Nanismo Hipofisário/epidemiologia , Nanismo Hipofisário/patologia , Insuficiência de Crescimento/epidemiologia , Insuficiência de Crescimento/genética , Insuficiência de Crescimento/patologia , Feminino , Hormônio do Crescimento Humano/deficiência , Hormônio do Crescimento Humano/genética , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Fenótipo , Síndrome de Smith-Magenis/diagnóstico por imagem , Síndrome de Smith-Magenis/epidemiologia , Síndrome de Smith-Magenis/genética , Síndrome de Smith-Magenis/patologia , Adulto JovemRESUMO
The frequency of celiac disease (CD) has increased along time, with relevant changes reported in geographical variations, clinical presentation and nutritional repercussions. In recent years, some celiac patients are presenting overweight/obesity, but it is unclear how frequent this is and to what extent undernutrition remains a concern. This is relevant because CD tends to be overlooked in overweight patients. With this in mind, we assessed age at diagnosis, clinical characteristics and nutritional status of 155 celiac patients diagnosed between 1994-2017 in four pediatric hospitals in Santiago, Chile. Since 2003, the number of patients diagnosed has increased (p < 0.0033), coinciding with antitransglutaminase and antiendomysial antibodies becoming available to public health systems. In 2000, 4.5% of patients were asymptomatic at diagnosis, suggesting that active search is not routinely applied. Gastrointestinal symptoms plus failure to thrive were significantly more frequent under 2 years (p = 0.0001). Nutritional status has improved at diagnosis and during follow up, but undernutrition remains more frequent in children <2 and <5 years (p < 0.002 and p < 0.0036, respectively). Overweight at diagnosis was reported in 2002 and obesity in 2010. After initiating treatment, since 2010, patients changing from undernourishment to overweight has sometimes been observed after only 6 months on a gluten-free diet.
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Índice de Massa Corporal , Doença Celíaca/complicações , Dieta Livre de Glúten , Estado Nutricional , Obesidade Infantil , Magreza/etiologia , Aumento de Peso , Fatores Etários , Autoanticorpos , Doença Celíaca/diagnóstico , Doença Celíaca/dietoterapia , Doença Celíaca/epidemiologia , Criança , Pré-Escolar , Chile/epidemiologia , Insuficiência de Crescimento/diagnóstico , Insuficiência de Crescimento/dietoterapia , Insuficiência de Crescimento/epidemiologia , Insuficiência de Crescimento/etiologia , Feminino , Gastroenteropatias/diagnóstico , Gastroenteropatias/dietoterapia , Gastroenteropatias/epidemiologia , Gastroenteropatias/etiologia , Hospitais , Humanos , Lactente , Masculino , Sobrepeso , Prevalência , Magreza/diagnóstico , Magreza/dietoterapia , Magreza/epidemiologiaRESUMO
OBJECTIVE: To evaluate change in the incidence of failure to thrive (FTT) based on selected growth percentile criteria and diagnostic codes before and after a switch in growth curves. METHODS: We performed a retrospective cohort study of children 2 to 24 months of age in a large primary care network that switched its default growth curve from the Centers for Disease Control and Prevention (CDC) reference to the World Health Organization (WHO) standards in 2012. We compared the incidence of FTT defined by growth percentile criteria (using the default growth curve at the time of each measurement) and by International Classification of Diseases, Ninth Revision, codes in the 3 years before and after the CDC-WHO switch using an interrupted time series analysis. We performed these analyses stratified by age group (≤6 months and >6-24 months). RESULTS: We evaluated 83,299 children. Among those ≤6 months, increases in FTT incidence were found in both growth-percentile and clinician-diagnosis criteria at the CDC-WHO switch (P < .05). Among those >6 to 24 months, decreases in FTT incidence were found by growth-percentile criteria at the CDC-WHO switch (P < .05), but no significant changes were found in FTT incidence by diagnostic codes. CONCLUSIONS: When switching from the CDC to the WHO growth curves, changes in the incidence of FTT by growth-percentile and clinician-diagnosis criteria differed for younger versus older infants. Factors beyond growth likely influence the decision to diagnose a child as having FTT and may differ in younger compared to older infants.
Assuntos
Insuficiência de Crescimento/epidemiologia , Gráficos de Crescimento , Centers for Disease Control and Prevention, U.S. , Pré-Escolar , Etnicidade/estatística & dados numéricos , Insuficiência de Crescimento/diagnóstico , Feminino , Hospitais Pediátricos , Humanos , Incidência , Lactente , Masculino , Philadelphia/epidemiologia , Estudos Retrospectivos , Estados Unidos , Organização Mundial da SaúdeRESUMO
There are virtually no data regarding appropriate oral intake in infants with dwarfing disorders such as achondroplasia, nor is there clear information regarding appropriate weight gain velocity in this population. Yet, these individuals are at increased risk for both early failure to thrive and, later in life, for obesity. Having appropriate expectations regarding weight gain and reasonable goals in management is imperative. We sought to clarify the rate of weight gain in infants with achondroplasia during the first year of life through analysis of data from 60 infants with achondroplasia seen at least twice during the first year of life in the Midwest Regional Bone Dysplasia Clinic, University of Wisconsin-Madison between 1998 and 2018. The mean weight gain velocity during the first 3 months was 23 g/day which contrasts with 30 g/day in average statured infants. Mean weight gain from 0 to 12 months of age was 13 g/day. The 3% of weight gain velocity during the first year of life was 8 g/day, and this rate did not differ between 0-3 months and 0-12 months of age. Infants with achondroplasia slightly more than doubled their birth weights by 1 year of age in contrast to averaged statured infants who typically triple birth weights by 1 year. Infants with achondroplasia can be thriving but erroneously assessed as failing to thrive if the incorrect reference values are used. This article describes infant weight gain velocity reference data for this population.
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Acondroplasia/epidemiologia , Insuficiência de Crescimento/epidemiologia , Obesidade/epidemiologia , Aumento de Peso/fisiologia , Acondroplasia/fisiopatologia , Peso ao Nascer/fisiologia , Estatura/fisiologia , Aleitamento Materno , Insuficiência de Crescimento/fisiopatologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Obesidade/fisiopatologia , Valores de ReferênciaRESUMO
Older adults undergoing nonelective surgery are at risk for geriatric events (GEs: delirium, dehydration, falls/fractures, failure to thrive, and pressure ulcers), but the impact of GEs on postoperative outcomes is unclear. Using the 2013 to 2014 National Inpatient Sample, we analyzed nonelective hospital admissions for five common operations (laparoscopic cholecystectomy, colectomy, soft tissue debridement, small bowel resection, and laparoscopic appendectomy) in older adults (aged ≥65 years) and a younger referent group (aged 55-64 years). Nationally weighted descriptive statistics were generated for GEs. Logistic regression controlling for patient, procedure, and hospital characteristics estimated the association of 1) age with GEs and 2) GEs with outcomes. Of 471,325 overall admissions, 64.7 per cent were aged ≥65 years. The rate of any GE in older adults was 26.9 per cent; GEs varied by age and procedure (P < 0.001). After adjustment, the probability of any GE increased with age category (P < 0.001); having any GE was associated with higher probability of all outcomes (P < 0.001): mortality (4.5% vs 0.8%), postoperative complications (61.7% vs 24.9%), prolonged length of stay (24.3% vs 7.9%), and skilled nursing facility discharge (46.6% vs 10.3%). In addition, there was a dose-response relationship between GEs and negative outcomes. GEs are prevalent in the nonelective surgery setting and associated with worse clinical outcomes. Quality improvement efforts should focus on addressing GEs.
Assuntos
Apendicectomia/efeitos adversos , Colecistectomia Laparoscópica/efeitos adversos , Colectomia/efeitos adversos , Desbridamento/efeitos adversos , Intestino Delgado/cirurgia , Complicações Pós-Operatórias/epidemiologia , Acidentes por Quedas/estatística & dados numéricos , Fatores Etários , Idoso , Apendicectomia/estatística & dados numéricos , Colecistectomia Laparoscópica/estatística & dados numéricos , Colectomia/estatística & dados numéricos , Desbridamento/estatística & dados numéricos , Desidratação/epidemiologia , Desidratação/etiologia , Delírio/epidemiologia , Delírio/etiologia , Insuficiência de Crescimento/epidemiologia , Insuficiência de Crescimento/etiologia , Feminino , Fraturas Ósseas/epidemiologia , Fraturas Ósseas/etiologia , Mortalidade Hospitalar , Hospitalização/estatística & dados numéricos , Humanos , Tempo de Internação/estatística & dados numéricos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Úlcera por Pressão/epidemiologia , Úlcera por Pressão/etiologia , Instituições de Cuidados Especializados de Enfermagem/estatística & dados numéricos , Resultado do TratamentoRESUMO
OBJECTIVE: A prior study indicated that postoperative mortality and complications were higher in geriatrics with inflammatory bowel disease (IBD). We sought to assess the rates of surgical complications and mortality in patients aged ≥65 years after colectomy for ulcerative colitis (UC). METHODS: This is a single center retrospective study at a tertiary care center. We reviewed all hospital discharges with ICD-9 code 556.X between January 2002 and January 2014. Patients were included if they underwent a colectomy for UC. All records were manually reviewed for demographics, complications and mortality within 90 days postoperatively. RESULTS: A total of 259 patients underwent surgery for UC during the study period and 34 patients were ≥65 years old (range 65-82) at the time of their surgery. There was no difference in overall length of stay (10.5 days vs. 9.6 days; P = 0.645) or complication rates (44% vs. 47%; P = 0.854) in the ≥65 cohort compared with the under 65 cohort. Mortality was higher in the geriatric cohort but this included only two deaths within 90 days, one of which was unrelated to the surgery, compared with one death related to surgery within 90 days in the younger cohort. Readmissions occurred in 24% of both cohorts within 90 days. CONCLUSION: Geriatric patients undergoing surgery for UC are not at increased risk of surgery-related morbidity or mortality compared with a younger cohort.