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2.
BMJ Case Rep ; 12(6)2019 Jun 18.
Artículo en Inglés | MEDLINE | ID: mdl-31217210

RESUMEN

A 7-year-8-month-old boy with cardiofaciocutaneous syndrome caused by the D638E mutation of the B-Raf proto-oncogene (BRAF) presented with new-onset seizures. He was incidentally found to have advanced Tanner staging on physical examination. Hormonal testing revealed pubertal levels of gonadotropins and sex steroid hormones. On brain imaging, a lack of visualisation of the posterior pituitary bright spot was observed, in addition to mild thinning of the corpus callosum and the lateral gyri of the cerebellar hemispheres. A diagnosis of idiopathic central precocious puberty was made and the patient was started on leuprolide depot treatment. Pituitary hormone testing revealed hyperprolactinemia for which the patient did not receive treatment as he was asymptomatic. During a subsequent hospital admission for seizures, the patient was diagnosed with transient central diabetes insipidus for which he required treatment with a desmopressin infusion.


Asunto(s)
Diabetes Insípida Neurogénica/tratamiento farmacológico , Displasia Ectodérmica/diagnóstico , Insuficiencia de Crecimiento/diagnóstico , Cardiopatías Congénitas/diagnóstico , Proteínas Proto-Oncogénicas B-raf/genética , Pubertad Precoz/diagnóstico , Convulsiones/tratamiento farmacológico , Antineoplásicos Hormonales/uso terapéutico , Niño , Desamino Arginina Vasopresina/uso terapéutico , Diabetes Insípida Neurogénica/fisiopatología , Displasia Ectodérmica/tratamiento farmacológico , Displasia Ectodérmica/genética , Displasia Ectodérmica/fisiopatología , Facies , Insuficiencia de Crecimiento/tratamiento farmacológico , Insuficiencia de Crecimiento/genética , Insuficiencia de Crecimiento/fisiopatología , Cardiopatías Congénitas/tratamiento farmacológico , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/fisiopatología , Hemostáticos/uso terapéutico , Humanos , Leuprolida/uso terapéutico , Masculino , Pubertad Precoz/tratamiento farmacológico , Pubertad Precoz/genética , Pubertad Precoz/fisiopatología , Convulsiones/fisiopatología , Resultado del Tratamiento
3.
Horm Res Paediatr ; 91(4): 223-240, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31195397

RESUMEN

Based on a recent Dutch national guideline, we propose a structured stepwise diagnostic approach for children with growth failure (short stature and/or growth faltering), aiming at high sensitivity for pathologic causes at acceptable specificity. The first step is a detailed clinical assessment, aiming at obtaining relevant clinical clues from the medical history (including family history), physical examination (emphasising head circumference, body proportions and dysmorphic features) and assessment of the growth curve. The second step consists of screening: a radiograph of the hand and wrist (for bone age and assessment of anatomical abnormalities suggestive for a skeletal dysplasia) and laboratory tests aiming at detecting disorders that can present as isolated short stature (anaemia, growth hormone deficiency, hypothyroidism, coeliac disease, renal failure, metabolic bone diseases, renal tubular acidosis, inflammatory bowel disease, Turner syndrome [TS]). We advise molecular array analysis rather than conventional karyotyping for short girls because this detects not only TS but also copy number variants and uniparental isodisomy, increasing diagnostic yield at a lower cost. Third, in case of diagnostic clues for primary growth disorders, further specific testing for candidate genes or a hypothesis-free approach is indicated; suspicion of a secondary growth disorder warrants adequate further targeted testing.


Asunto(s)
Determinación de la Edad por el Esqueleto , Variaciones en el Número de Copia de ADN , Insuficiencia de Crecimiento , Hormona de Crecimiento Humana , Cariotipificación , Disomía Uniparental , Niño , Preescolar , Insuficiencia de Crecimiento/sangre , Insuficiencia de Crecimiento/diagnóstico , Insuficiencia de Crecimiento/genética , Insuficiencia de Crecimiento/patología , Femenino , Hormona de Crecimiento Humana/sangre , Hormona de Crecimiento Humana/deficiencia , Humanos , Masculino
4.
Acta Derm Venereol ; 99(9): 789-796, 2019 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-31037311

RESUMEN

Desmoplakin (DSP) and Desmoglein 1 (DSG1) variants result in skin barrier defects leading to erythroderma, palmoplantar keratoderma and variable [AQ4] other features. Some DSG1 variant carriers present with SAM syndrome (Severe dermatitis, multiple Allergies, Metabolic wasting) and a SAM-like phenotype has been reported in 4 subjects with different heterozygous DSP variants. We report here a patient with a novel DSP spectrin region (SR) 6 variant c.1756C>T, p.(His586Tyr), novel features of brain lesions and severe recurrent mucocutaneous herpes simplex virus infections, with a favourable response to ustekinumab. Through a review of reported cases of heterozygous variants in DSP SR6 (n = 15) and homozygous or compound heterozygous variants in DSG1 (n = 12) and SAM-like phenotype, we highlight phenotypic variability. Woolly hair, nail abnormalities and cardiomyopathy characterize patients with DSP variants, while elevated immunoglobulin E and food allergies are frequent in patients with DSG1 variants. Clinicians should be aware of the diverse manifestations of desmosomopathies.


Asunto(s)
Encefalopatías/genética , Dermatitis Exfoliativa/genética , Desmoplaquinas/genética , Insuficiencia de Crecimiento/genética , Variación Genética , Herpes Simple/genética , Ictiosis/genética , Encefalopatías/diagnóstico por imagen , Preescolar , Dermatitis Exfoliativa/diagnóstico , Dermatitis Exfoliativa/tratamiento farmacológico , Fármacos Dermatológicos/uso terapéutico , Insuficiencia de Crecimiento/diagnóstico , Predisposición Genética a la Enfermedad , Herpes Simple/diagnóstico , Herpes Simple/virología , Humanos , Ictiosis/diagnóstico , Ictiosis/tratamiento farmacológico , Lactante , Recién Nacido , Masculino , Fenotipo , Índice de Severidad de la Enfermedad , Resultado del Tratamiento , Ustekinumab/uso terapéutico
5.
J Vet Diagn Invest ; 31(4): 601-603, 2019 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-31006384

RESUMEN

Six, 5-6-wk-old pigs, from 3 farms of the same company, with significant loss of body condition were submitted for postmortem evaluation. Macroscopically, the main lesion observed in all of the pigs was thymic atrophy. Microscopically, all of the pigs had thymic atrophy, superficial lymphocytic fundic gastritis, atrophic enteritis, superficial colitis, and neutrophilic and lymphocytic rhinitis, leading to a diagnosis of porcine periweaning failure-to-thrive syndrome. In the pigs from 2 of the farms, many of the thymic corpuscles had infiltrates of neutrophils and degenerate cells, in some cases infiltrating the surrounding parenchyma.


Asunto(s)
Insuficiencia de Crecimiento/veterinaria , Enfermedades de los Porcinos/diagnóstico , Timo/patología , Animales , Insuficiencia de Crecimiento/diagnóstico , Insuficiencia de Crecimiento/patología , Porcinos , Enfermedades de los Porcinos/patología , Destete
6.
Med. infant ; 26(1): 5-9, Marzo 2019. tab
Artículo en Español | LILACS | ID: biblio-988450

RESUMEN

El trastorno del espectro autista (TEA) es un trastorno del desarrollo, común de la niñez, con una fuerte predisposición genética y alta heredabilidad. El riesgo de recurrencia en hermanos oscila entre 10-20% y en caso de familias con dos o más niños afectados el riesgo de recurrencia aumenta hasta un 35%. Dentro de las pruebas complementarias para el diagnóstico, el gold standard es la escala ADOS, existe además una prueba de pesquisa, el M-CHAT. Objetivo: evaluar riesgo de recurrencia de TEA en hermanos menores de niños con diagnóstico de TEA. Materiales y Métodos: se realizó un estudio de tipo transversal, observacional y descriptivo. Fueron estudiados niños entre 18-36 meses, hermanos de pacientes con diagnóstico de TEA. La evaluación del desarrollo se realizó utilizando: Escalas CAT/CLAMS, M-CHAT y ADOS 2. Resultados: se estudiaron 39 hermanos. 25 fueron varones y 14 fueron mujeres. Se identificaron 5 niños con diagnóstico de TEA, por lo que el riesgo de recurrencia en la población estudiada fue de 13%, con una relación varón/mujer de 4/1. Del resto de la población estudiada, 13% reunieron criterios para fenotipo ampliado del autismo (Broader Autism Phenotype ­BAP­ en su sigla en inglés), 31% presentaron retraso del lenguaje(RL) y 7%retraso global del desarrollo (RGD). Solo el 36% presentó desarrollo típico. Conclusión: Los hermanos de niños afectados representan un grupo de riesgo para problemas del desarrollo, que debe ser tenido en cuenta por los profesionales de la salud que siguen longitudinalmente a niños con diagnóstico confirmado de TEA (AU)


Autism spectrum disorder (ASD) is a developmental disorder that is common in childhood with a strong genetic predisposition and high heritability. The risk of recurrence in siblings is found to be between 10-20% and in families with two or more affected children recurrence risk is as high as 35%. Among the complementary diagnostic tests, the gold standard is the ADOS scale, and additionally the M-CHAT screening test. Objective: To evaluate the recurrence risk of ASD in younger siblings of children diagnosed with ASD. Material and Methods: A cross-sectional, observational, descriptive study was conducted. Children between 18- 36 months of age, siblings of children diagnosed with ASD were studied. Development was assessed using the CAT/CLAMS, MCHAT, and ADOS 2 scales. Results: 39 siblings were studied; 25 were male and 14 female. Five children with ASD were identified, accounting for a recurrence risk of 13% in the study population and a male/female ratio of 4/1. Of the remaining children, 13% met the criteria for the broader autism phenotype (BAP), 31% had language delay (LD), and 7% global developmental delay (GDD). Only 36% had normal development. Conclusion: Siblings of affected children are at risk for developmental disorders that should be taken into account by health professionals that ongitudinally follow children with a confirmed diagnosis of ASD (AU)


Asunto(s)
Humanos , Lactante , Preescolar , Recurrencia , Hermanos , Trastorno del Espectro Autista/diagnóstico , Pruebas Neuropsicológicas , Estudios Transversales , Factores de Riesgo , Insuficiencia de Crecimiento/diagnóstico , Estudio Observacional , Trastornos del Desarrollo del Lenguaje/diagnóstico
7.
Nutr Clin Pract ; 34(4): 581-588, 2019 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-30644589

RESUMEN

OBJECTIVES AND STUDY: Failure to thrive (FTT) is an interruption in the normal pattern of growth. We aimed to evaluate the clinical characteristics, underlying etiologies, diagnostic workup, and frequency of micronutrient deficiencies (MDs) in children with FTT. METHODS: This retrospective study was done with 729 children (319 male, mean age 6.8 ± 5.5 years) with FTT (weight for age <3rd percentile) who had visited the Pediatric Gastroenterology outpatient clinic between 2011 and 2016. Children who had previously known chronic diseases, inadequate intake, or inadequate absorption were excluded. Acute malnutrition was considered if weight-for-age z-scores were below -2 and height-for-age z-scores were above -2, and chronic malnutrition was defined if height-for-age z-scores were below -2. RESULTS: The malnutrition rate was 57.1% (acute: 37.8%, chronic: 19.3%). Of children, 98.7% had laboratory evaluation. We found that 1.1% of laboratory tests, 0.4% of imaging studies, 27% of endoscopic findings, and biopsy results led to a specific diagnosis, equating to a total of 1.3% of diagnostic workup leading to a diagnosis related to FTT. The causes of FTT were inadequate nutrition (61.4%), psychiatric and behavioral disorders (17.2%), endocrinologic disorders (9%), recurrent infections (6.4%), gastrointestinal diseases (1.9%), and cardiac disorders (0.1%). Vitamin A and D deficiencies were the most common MD. CONCLUSION: We showed that the most common cause of FTT is "purely nutrition" FFT because of inadequate caloric intake, and extensive diagnostic workup is rarely helpful to reveal the etiology. These results implicate the importance of clinical evaluation and anthropometry to evaluate a child with FTT.


Asunto(s)
Trastornos de la Nutrición del Niño/diagnóstico , Insuficiencia de Crecimiento/diagnóstico , Enfermedades Gastrointestinales/diagnóstico , Micronutrientes/deficiencia , Niño , Trastornos de la Nutrición del Niño/complicaciones , Preescolar , Diagnóstico Diferencial , Insuficiencia de Crecimiento/etiología , Femenino , Enfermedades Gastrointestinales/etiología , Humanos , Masculino , Estudios Retrospectivos
8.
Clin Pediatr (Phila) ; 58(4): 446-452, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30596256

RESUMEN

There is no concordance between current diagnostic criteria for failure to thrive (FTT). We analyzed validity of the Semi-Objective Failure to Thrive (SOFTT) diagnosis tool, which uses a combination of subjective and objective components to make the diagnosis of FTT. The tool was used to diagnose FTT in 94 patients who met 1 of 7 accepted criteria for FTT. Concurrent and predictive validity were demonstrated using anthropometric z-scores and change in anthropometric z-scores, respectively. SOFTT results correlated with differences in anthropometric z-scores for length ( P = .011), weight, weight-for-length, body mass index, mid-upper arm circumference, and triceps skinfold thickness ( P < .0001) between those diagnosed as normal and those with FTT. At follow-up, children with FTT compared with children rated as normal had significantly higher change in weight ( P ≤ .001) and body mass index ( P = .026) z-scores. The SOFTT tool leads to the accurate diagnosis of FTT demonstrated by concurrent and predictive validity.


Asunto(s)
Antropometría/métodos , Insuficiencia de Crecimiento/diagnóstico , Preescolar , Países Desarrollados , Femenino , Humanos , Lactante , Masculino , Wisconsin
10.
Br J Dermatol ; 180(1): 172-180, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-30141192

RESUMEN

BACKGROUND: Data on dermatological manifestations of cardiofaciocutaneous syndrome (CFCS) remain heterogeneous and almost without expert dermatological classification. OBJECTIVES: To describe the dermatological manifestations of CFCS; to compare them with the literature findings; to assess those discriminating CFCS from other RASopathies, including Noonan syndrome (NS) and Costello syndrome (CS); and to test for dermatological phenotype-genotype correlations. METHODS: We performed a 4-year, large, prospective, multicentric, collaborative dermatological and genetic study. RESULTS: Forty-five patients were enrolled. Hair abnormalities were ubiquitous, including scarcity or absence of eyebrows and wavy or curly hair in 73% and 69% of patients, respectively. Keratosis pilaris (KP), ulerythema ophryogenes (UO), palmoplantar hyperkeratosis (PPHK) and multiple melanocytic naevi (MMN; over 50 naevi) were noted in 82%, 44%, 27% and 29% of patients, respectively. Scarcity or absence of eyebrows, association of UO and PPHK, diffuse KP and MMN best differentiated CFCS from NS and CS. Oral acitretin may be highly beneficial for therapeutic management of PPHK, whereas treatment of UO by topical sirolimus 1% failed. No significant dermatological phenotype-genotype correlation was determined. CONCLUSIONS: A thorough knowledge of CFCS skin manifestations would help in making a positive diagnosis and differentiating CFCS from CS and NS.


Asunto(s)
Displasia Ectodérmica/diagnóstico , Insuficiencia de Crecimiento/diagnóstico , Cardiopatías Congénitas/diagnóstico , Acitretina/administración & dosificación , Administración Cutánea , Administración Oral , Adolescente , Niño , Preescolar , Síndrome de Costello/diagnóstico , Diagnóstico Diferencial , Displasia Ectodérmica/tratamiento farmacológico , Displasia Ectodérmica/genética , Facies , Insuficiencia de Crecimiento/tratamiento farmacológico , Insuficiencia de Crecimiento/genética , Femenino , Francia , Estudios de Asociación Genética , Cardiopatías Congénitas/tratamiento farmacológico , Cardiopatías Congénitas/genética , Humanos , MAP Quinasa Quinasa 1/genética , MAP Quinasa Quinasa 2/genética , Masculino , Mutación , Síndrome de Noonan/diagnóstico , Estudios Prospectivos , Proteínas Proto-Oncogénicas B-raf/genética , Sirolimus/administración & dosificación , Resultado del Tratamiento , Adulto Joven
11.
Pediatr Transplant ; 23(1): e13321, 2019 02.
Artículo en Inglés | MEDLINE | ID: mdl-30417493

RESUMEN

BACKGROUND: Prior to transplantation, effects of advanced CKD contribute to malnutrition and impaired growth. After transplant, children are expected to thrive, however, in a subset of transplant recipients this does not occur. Factors associated with post-transplant FTT are poorly understood. OBJECTIVE: A retrospective cohort study was conducted to determine factors associated with FTT and association of FTT with infections and hospitalizations. METHODS: Records of 119 children transplanted between 2005 and 2016 were reviewed. FTT was defined by ≥2 of the following post-transplant criteria: (a) low BMI or deceleration in BMI z-score, (b) poor growth velocity, and (c) chronic hypoalbuminemia at 1 or 3 years post-transplant. Association of FTT with deceased donor transplant, de novo DSA, intolerance to MMF, anemia, vitamin D deficiency, and CIC was investigated by logistic regression. Poisson regression was used to identify outcomes associated with FTT. RESULTS: Low pre-transplant BMI and post-transplant CIC dependence were independently associated with FTT after transplant. Odds of FTT at 1 year post-transplant decreased by 0.5 for each 1 unit increase in pre-transplant BMI z-score. Requirement for CIC conferred 3.8 and 7.8 higher odds of FTT at 1 and 3 years. Patients with FTT had 2.7 and 2.6 times infections and hospitalizations during the first year, and 4.2 and 4.3 times infections and hospitalizations over 3 years post-transplant. CONCLUSIONS: Children with low BMI prior to transplant and those requiring CIC after transplant are at increased risk for post-transplant FTT. FTT is associated with adverse outcomes, evidenced by increased infections and hospitalizations.


Asunto(s)
Insuficiencia de Crecimiento/epidemiología , Trasplante de Riñón , Complicaciones Posoperatorias/epidemiología , Adolescente , Niño , Insuficiencia de Crecimiento/diagnóstico , Insuficiencia de Crecimiento/etiología , Femenino , Humanos , Modelos Logísticos , Masculino , Complicaciones Posoperatorias/diagnóstico , Complicaciones Posoperatorias/etiología , Prevalencia , Pronóstico , Estudios Retrospectivos , Factores de Riesgo , Adulto Joven
12.
Pediatr Ann ; 47(11): e465-e469, 2018 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-30423190

RESUMEN

Traditionally, nutritional risk has been defined by growth failure, with clinical intervention indicated when a child falls below the third to fifth percentile on growth charts. Although the velocity of linear growth and weight gain during the first years are unparalleled at any other time of life, this period is also unique for other reasons. Nutrition not only supports increased bone length, muscle mass, and tissue growth, but also continued development of several highly metabolic organs such as the gastrointestinal tract, the immune system, the cardiorespiratory system, the kidneys, and the central nervous system. Just as growth depends on consistent nutrients, so too does organ development, especially the brain. The undernourished child may exhibit compromised optimal development and future cognitive performance, irrespective of weight status. It is often challenging in early childhood to ensure that a child is receiving high-quality nutrition. Primary care clinicians are positioned to identify the child with potential nutritional risk and design an appropriate intervention that promotes optimal development. [Pediatr Ann. 2018;47(11):e465-e469.].


Asunto(s)
Desarrollo Infantil/fisiología , Trastornos de la Nutrición del Niño/diagnóstico , Insuficiencia de Crecimiento/diagnóstico , Atención Primaria de Salud/métodos , Trastornos de la Nutrición del Niño/complicaciones , Preescolar , Insuficiencia de Crecimiento/etiología , Gráficos de Crecimiento , Humanos , Lactante , Fenómenos Fisiológicos Nutricionales del Lactante , Necesidades Nutricionales , Estado Nutricional , Medición de Riesgo/métodos
13.
Am J Med Genet A ; 176(12): 2798-2802, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30345613

RESUMEN

Wolf-Hirschhorn syndrome (WHS) is a microdeletion syndrome characterized by distinctive facial features consisting of "Greek warrior helmet" appearance, prenatal and postnatal growth deficiency, developmental disability, and seizures. This disorder is caused by heterozygous deletions on chromosome 4p16.3 often identified by cytogenetic techniques. Many groups have attempted to identify the critical region within this deletion to establish which genes are responsible for WHS. Herein, clinical whole exome sequencing (WES) was performed on a child with developmental delays, mild facial dysmorphisms, short stature, failure to thrive, and microcephaly, and revealed a de novo frameshift variant, c.1676_1679del (p.Arg559Tfs*38), in WHSC1 (NSD2). While WHSC1 falls within the WHS critical region, individuals with only disruption of this gene have only recently been described in the literature. Loss-of-function de novo variations in WHSC1 were identified in large developmental delay, autism, diagnostic, and congenital cardiac cohorts, as well as recent case reports, suggesting that de novo loss-of-function WHSC1 variants may be related to disease. These findings, along with our patient suggest that loss-of-function variation in WHSC1 may lead to a mild form of Wolf-Hirschhorn syndrome, and also may suggest that the developmental delays, facial dysmorphisms, and short stature seen in WHS may be due to disruption of WHSC1 gene.


Asunto(s)
Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/genética , Insuficiencia de Crecimiento/diagnóstico , Insuficiencia de Crecimiento/genética , N-Metiltransferasa de Histona-Lisina/genética , Mutación con Pérdida de Función , Proteínas Represoras/genética , Preescolar , Análisis Citogenético , Femenino , Estudios de Asociación Genética , Genómica/métodos , Humanos , Linaje , Fenotipo , Secuenciación del Exoma Completo , Síndrome de Wolf-Hirschhorn/diagnóstico , Síndrome de Wolf-Hirschhorn/genética
14.
World J Gastroenterol ; 24(36): 4208-4216, 2018 Sep 28.
Artículo en Inglés | MEDLINE | ID: mdl-30271085

RESUMEN

Interstitial lung and liver disease (ILLD) is caused by biallelic mutations in the methionyl-tRNA synthetase (MARS) gene. To date, no genetic changes other than missense variants were reported in the literature. Here, we report a five-month old female infant with typical ILLD (failure to thrive, developmental delay, jaundice, diffuse interstitial lung disease, hepatomegaly with severe steatosis, anemia, and thrombocytosis) showing novel phenotypes such as kidney stones, acetabular dysplasia, prolonged fever, and extreme leukocytosis. Whole exome sequencing revealed a novel truncating variant (c.2158C>T/p.Gln720Stop) together with a novel tri-nucleotide insertion (c.893_894insTCG that caused the insertion of an arginine at amino acid position 299) in the MARS gene.


Asunto(s)
Insuficiencia de Crecimiento/genética , Hepatopatías/genética , Metionina-ARNt Ligasa/genética , Proteinosis Alveolar Pulmonar/genética , Biopsia , Insuficiencia de Crecimiento/diagnóstico , Femenino , Humanos , Lactante , Hígado/diagnóstico por imagen , Hígado/patología , Hepatopatías/diagnóstico , Hepatopatías/patología , Mutación , Proteinosis Alveolar Pulmonar/diagnóstico , Secuenciación del Exoma Completo
15.
Hosp Pediatr ; 8(10): 620-627, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-30254115

RESUMEN

OBJECTIVES: To investigate the association of in-hospital weight gain with failure to thrive (FTT) etiologies. METHODS: With this retrospective cross-sectional study, we included children <2 years of age hospitalized for FTT between 2009 and 2012 at a tertiary care children's hospital. We excluded children with a gestational age <37 weeks, intrauterine growth restriction, acute illness, or preexisting complex chronic conditions. Average daily in-hospital weight gain was categorized as (1) below average or (2) average or greater for age. χ2, Fisher's exact test, and 1-way analysis of variance tests were used to compare patient demographics, therapies, and FTT etiologies with categorical weight gain; multivariable logistic regression models tested for associations. RESULTS: There were 331 children included. The primary etiologies of FTT were neglect (30.5%), gastroesophageal reflux disease (GERD) (28.1%), child-centered feeding difficulties (22.4%), and organic pathology (19.0%). Average or greater weight gain for age had a specificity of 22.2% and positive predictive value of 33.9% for differentiating neglect from other FTT etiologies. However, sensitivity and negative predictive value were 91.1% and 85.0%, respectively. After adjusting for demographics and therapies received, neglect (P = .02) and child-centered feeding difficulties (P = .01) were more likely to have average or greater weight gain for age compared with organic pathology. Children with GERD gained similarly (P = .11) to children with organic pathology. CONCLUSIONS: In-hospital weight gain was nonspecific for differentiating neglect from other FTT etiologies. Clinicians should exercise caution when using weight gain alone to confirm neglect. Conversely, below average weight gain may be more useful in supporting GERD or organic pathologies but cannot fully rule out neglect.


Asunto(s)
Maltrato a los Niños/diagnóstico , Insuficiencia de Crecimiento/etiología , Reflujo Gastroesofágico/complicaciones , Aumento de Peso/fisiología , Pérdida de Peso/fisiología , Estudios Transversales , Insuficiencia de Crecimiento/diagnóstico , Insuficiencia de Crecimiento/rehabilitación , Femenino , Reflujo Gastroesofágico/diagnóstico , Humanos , Lactante , Recién Nacido , Masculino , Readmisión del Paciente/estadística & datos numéricos , Reproducibilidad de los Resultados , Estudios Retrospectivos , Medición de Riesgo
16.
Ugeskr Laeger ; 180(34)2018 Aug 20.
Artículo en Danés | MEDLINE | ID: mdl-30152319

RESUMEN

Standardised measures are needed in the general child health surveillance. A standardised record with manualised guidelines have been created for use in the existing services of community health nurses, to collect epidemiological data and improve the quality of regional child health surveillance. The record has been used since 2000, and currently one third of the Danish child population is included. Research findings suggest targets of intervention towards risk trajectories of overweight, weight faltering, eating problems and neuro-developmental disorders.


Asunto(s)
Desarrollo Infantil , Servicios de Salud del Niño/organización & administración , Servicios de Salud Comunitaria/organización & administración , Registros de Enfermería , Vigilancia de la Población/métodos , Trayectoria del Peso Corporal , Lactancia Materna , Salud del Niño , Preescolar , Bases de Datos Factuales , Dinamarca , Insuficiencia de Crecimiento/diagnóstico , Trastornos de Alimentación y de la Ingestión de Alimentos/diagnóstico , Femenino , Visita Domiciliaria , Humanos , Lactante , Recién Nacido , Masculino , Tamizaje Masivo , Trastornos Mentales/diagnóstico , Padres , Obesidad Pediátrica/diagnóstico , Contaminación por Humo de Tabaco
17.
J Laryngol Otol ; 132(9): 852-855, 2018 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-29909783

RESUMEN

OBJECTIVE: To describe a case of concurrent cricopharyngeal achalasia with laryngomalacia as a cause of failure to thrive, and to review the literature and management options of cricopharyngeal achalasia in the paediatric population. METHODS: A chart review was performed on a four-month-old male, referred for failure to thrive, and diagnosed with cricopharyngeal achalasia and laryngomalacia. A PubMed and Embase search for 'cricopharyngeal achalasia' and 'laryngomalacia' was conducted. A review of reported paediatric cricopharyngeal achalasia patients, with emphasis on management options, was undertaken. RESULTS: A flexible laryngoscopic examination confirmed the laryngomalacia diagnosis, and videofluoroscopic evaluation of swallowing demonstrated cricopharyngeal achalasia via a cricopharyngeal bar. Supraglottoplasty was performed, with botulinum toxin injection into the cricopharyngeus muscle, with resultant improvement in oral intake and resolution of failure to thrive. The literature review revealed no reported case of the combined pathologies as a cause of failure to thrive. CONCLUSION: Functional endoscopic evaluation of swallowing and videofluoroscopic evaluation of swallowing are complimentary in the evaluation of paediatric patients with failure to thrive and suspected oropharyngeal dysphagia. Both supraglottoplasty and botulinum toxin injection are effective for definitive management in cases of combined pathology, and can be safely performed in a single surgical setting.


Asunto(s)
Trastornos de Deglución/diagnóstico por imagen , Acalasia del Esófago/complicaciones , Insuficiencia de Crecimiento/etiología , Laringomalacia/complicaciones , Músculos Faríngeos/efectos de los fármacos , Músculos Faríngeos/patología , Cuidados Posteriores , Toxinas Botulínicas/administración & dosificación , Toxinas Botulínicas/uso terapéutico , Cartílago Cricoides/cirugía , Deglución/fisiología , Trastornos de Deglución/complicaciones , Endoscopía/métodos , Acalasia del Esófago/diagnóstico por imagen , Acalasia del Esófago/cirugía , Insuficiencia de Crecimiento/diagnóstico , Fluoroscopía/métodos , Humanos , Lactante , Laringomalacia/diagnóstico por imagen , Laringomalacia/cirugía , Laringoscopía/instrumentación , Masculino , Microcirugia/métodos , Neurotoxinas/uso terapéutico , Músculos Faríngeos/cirugía , Resultado del Tratamiento
18.
Pediatr Ann ; 47(3): e130-e134, 2018 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-29538787

RESUMEN

A 7-year-old girl with 20q13.33 deletion and a history of generalized convulsive epilepsy presented to the Developmental and Behavioral Pediatrics Clinic due to concerns about her behavioral outbursts in the context of overall delayed development. Evaluation by the Developmental and Behavioral and Gastroenterology teams revealed failure to thrive (FTT) as the primary cause of the behavioral outbursts and developed a high-calorie, high-fat, high-protein nutritional counseling plan. Children who have FTT and a genetic disorder are often thought to not thrive because of their underlying genetic disorder; however, feeding skills and nutritional intake need to be thoroughly investigated before determining an etiology for FTT. Motoric, communicative, and developmental skills in children with genetic disorders may impede appropriate feeding mechanisms, inducing or exaggerating FTT in these children with developmental disabilities due to genetic etiologies. [Pediatr Ann. 2018;47(3):e130-e134.].


Asunto(s)
Deleción Cromosómica , Trastornos de los Cromosomas/complicaciones , Cromosomas Humanos Par 20 , Discapacidades del Desarrollo/complicaciones , Epilepsia Generalizada/complicaciones , Insuficiencia de Crecimiento/diagnóstico , Problema de Conducta , Niño , Trastornos de los Cromosomas/genética , Discapacidades del Desarrollo/genética , Epilepsia Generalizada/genética , Insuficiencia de Crecimiento/etiología , Insuficiencia de Crecimiento/psicología , Femenino , Humanos , Desnutrición/diagnóstico , Desnutrición/etiología , Desnutrición/psicología , Síndrome
19.
Mol Genet Metab ; 123(3): 382-387, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-29398271

RESUMEN

In this study, we report a paediatric patient with a lethal phenotype of respiratory distress, failure to thrive, pancreatic insufficiency, liver dysfunction, hypertrophic cardiomyopathy, bone marrow suppression, humoral and cellular immune deficiency. To identify the genetic basis of this unusual clinical phenotype and potentially make available the option of future prenatal testing, whole exome sequencing (WES) was used followed by functional studies in a bid to confirm pathogenicity. The WES we identified a homozygous novel variant, AK298328; c.9_10insGAG; p.[Glu3dup], in NOX4 in the proband, and parental heterozygosity for the variant (confirmed by Sanger sequencing). NADPH Oxidase 4 NOX4 (OMIM 605261) encodes an enzyme that functions as the catalytic subunit of the NADPH oxidase complex. NOX4 acts as an oxygen sensor, catalysing the reduction of molecular oxygen, mainly to hydrogen peroxide (H2O2). However, although, our functional data including 60% reduction in NOX4 protein levels and a 75% reduction in the production of H2O2 in patient fibroblast extracts compared to controls was initially considered to be the likely cause of the phenotype in our patient, the potential contribution of the NOX4 variant as the primary cause of the disease was clearly excluded based on following pieces of evidence. First, Sanger sequencing of other family members revealed that two of the grandparents were also homozygous for the NOX4 variant, one of who has fibromuscular dysplasia. Second, re-evaluation of more recent variant databases revealed a high allele frequency for this variant. Our case highlights the need to re-interrogate bioinformatics resources as they are constantly evolving, and is reminiscent of the short-chain acyl-CoA dehydrogenase deficiency (SCADD) story, where a functional defect in fatty acid oxidation has doubtful clinical ramifications.


Asunto(s)
Homocigoto , NADPH Oxidasa 4/genética , Fenotipo , Agenesia del Cuerpo Calloso/diagnóstico , Agenesia del Cuerpo Calloso/genética , Cardiomiopatía Hipertrófica/diagnóstico , Cardiomiopatía Hipertrófica/genética , Catarata/diagnóstico , Catarata/genética , Biología Computacional , Insuficiencia Pancreática Exocrina/diagnóstico , Insuficiencia Pancreática Exocrina/genética , Insuficiencia de Crecimiento/diagnóstico , Insuficiencia de Crecimiento/genética , Resultado Fatal , Femenino , Heterocigoto , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro , Síndrome de Dificultad Respiratoria del Recién Nacido/diagnóstico , Síndrome de Dificultad Respiratoria del Recién Nacido/genética , Secuenciación del Exoma Completo
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