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1.
Cytogenet Genome Res ; 157(3): 135-140, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30933954

RESUMO

We report a patient with developmental delay, brachydactyly type E, short stature, and tetralogy of Fallot. Brachydactyly-mental retardation syndrome (BDMR) was suspected based on the phenotype; however, array CGH excluded a 2q37 deletion, but identified a deletion encompassing the SHOX gene. BDMR is characterized by cognitive impairment, skeletal abnormalities involving hands and feet, short stature, and overweight. Most affected individuals carry relatively large 2q37 deletions encompassing HDAC4. This gene encodes a histone deacetylase involved in epigenetic regulation of cell growth and differentiation, specifically during endochondral bone formation in chondrocyte hypertrophy. Since SHOX haploinsufficiency can cause skeletal defects and short stature but would not fully explain the clinical picture of this patient, exome sequencing was performed, and a heterozygous HDAC8 frameshift mutation was identified. HDAC8 is a distinct histone deacetylase involved in cohesin recycling and is responsible for an X-linked dominant Cornelia de Lange-like phenotype. A new blended clinical phenotype may be explained by the result of a dual molecular diagnosis, which represents a combination of 2 independent genetic defects, with relevant implications for genetic counseling, clinical management, and prognosis.


Assuntos
Síndrome de Lange/diagnóstico , Mutação da Fase de Leitura , Deleção de Genes , Transtornos do Crescimento/diagnóstico , Histona Desacetilases/genética , Osteocondrodisplasias/diagnóstico , Proteínas Repressoras/genética , Proteína de Homoeobox de Baixa Estatura/genética , Criança , Hibridização Genômica Comparativa , Síndrome de Lange/genética , Feminino , Transtornos do Crescimento/genética , Haploinsuficiência , Humanos , Osteocondrodisplasias/genética , Linhagem , Fenótipo , Sequenciamento Completo do Exoma
2.
Medicine (Baltimore) ; 98(14): e14962, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30946320

RESUMO

To investigate the progression rate of bone age (BA) and associated factors during the first 3 years of growth hormone (GH) treatment in children with idiopathic GH deficiency (iGHD) and idiopathic short stature (ISS).Data for prepubertal children with iGHD and ISS who were treated with recombinant human GH were obtained from the LG Growth Study Database and analyzed. Height, weight, BA, insulin-like growth factor-1 (IGF-1) level, and GH dose were recorded every 6 months. Differences between BA and chronological age (CA), BA-CA, were calculated at each measurement. This study included 92 (78 iGHD and 14 ISS) subjects.After 3 years of GH treatment, the height z-score was -1.09 ±â€Š0.71 (P < .001 compared to baseline), BA-CA was -1.21 ±â€Š1.18 years (P < .001), and IGF-1 standard deviation score (SDS) was 0.43 ±â€Š1.21 (P < .001) in the iGHD subjects; the change in BA over the 3 years was 3.68 ±â€Š1.27 years. In the ISS subjects, the height z-score was -1.06 ±â€Š0.59 (P < .001), BA-CA was -0.98 ±â€Š1.23 years (P = .009), and IGF-1 SDS was 0.16 ±â€Š0.76 (P = .648); the change in BA over the 3 years was 3.88 ±â€Š1.36 years. The only significant factor associated with the BA progression was the BA-CA at 1 year of GH treatment (OR = 2.732, P = .001). The baseline BA-CA, IGF-1 SDS, and GH dose did not influence BA progression.Prepubertal subjects with iGHD and ISS showed height improvement and mild BA acceleration over the first 3 years of GH treatment. However, because the BA progression rate was considered to be clinically acceptable, GH treatment may increase the predicted adult height during this period.


Assuntos
Nanismo/tratamento farmacológico , Transtornos do Crescimento/tratamento farmacológico , Hormônio do Crescimento/deficiência , Hormônio do Crescimento Humano/efeitos adversos , Determinação da Idade pelo Esqueleto/métodos , Fenômenos Biológicos , Estatura/efeitos dos fármacos , Criança , Pré-Escolar , Nanismo/diagnóstico , Feminino , Transtornos do Crescimento/diagnóstico , Hormônio do Crescimento/sangue , Hormônio do Crescimento Humano/administração & dosagem , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Fator de Crescimento Insulin-Like I/análise , Masculino , Estudos Prospectivos , Estudos Retrospectivos
3.
Eur J Pediatr ; 178(5): 633-640, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30762116

RESUMO

We aimed to compare body segment and bone lengths in glucocorticoid-treated boys with Duchenne muscular dystrophy (DMD) with healthy controls using dual-energy absorptiometry (DXA) images. Total height (Ht), sitting height (SH), leg length (LL) and bone lengths (femur, tibia) in boys with DMD and age-matched control boys were measured using DXA. Thirty boys with DMD (median age 10.0 years (6.1, 16.8)) were compared with 30 controls. SH in DMD was 3.3 cm lower (95% CI - 6.1, - 0.66; p = 0.016). LL in DMD was 7.3 cm lower (95% CI - 11.2, - 3.4; p < 0.0001). SH:LL of boys with DMD was higher by 0.08 (95% CI 0.04, 0.12; p < 0.0001). Femur length in DMD was 2.4 cm lower (95% CI - 4.6, - 0.12; p = 0.04), whereas tibial length in DMD was 4.8 cm lower (95% CI - 6.7, - 2.9; p < 0.0001). SH:LL was not associated with duration of glucocorticoid use (SH:LL ß = 0.003, 95% CI - 0.01 to 0.002, p = 0.72).Conclusion: Glucocorticoid-treated boys with DMD exhibit skeletal disproportion with relatively shorter leg length and more marked reduction of distal long bones. As glucocorticoid excess is not associated with such disproportion, our findings raise the possibility of an intrinsic disorder of growth in DMD. What is Known • Severe growth impairment and short stature are commonly observed in boys with Duchenne muscular dystrophy (DMD), especially those treated with long-term glucocorticoids (GC). • In other groups of children with chronic conditions and/or disorders of puberty, skeletal disproportion with lower spinal length has been reported. What is New • Growth impairment in GC-treated boys with DMD was associated with skeletal disproportion in relation to age, with lower limbs and distal long bones affected to a greater degree.


Assuntos
Tamanho Corporal , Osso e Ossos/anatomia & histologia , Glucocorticoides/uso terapêutico , Transtornos do Crescimento/etiologia , Distrofia Muscular de Duchenne/tratamento farmacológico , Absorciometria de Fóton , Adolescente , Estudos de Casos e Controles , Criança , Estudos Transversais , Transtornos do Crescimento/diagnóstico , Humanos , Modelos Lineares , Masculino , Distrofia Muscular de Duchenne/fisiopatologia , Estudos Prospectivos
4.
Indian J Pathol Microbiol ; 62(1): 149-152, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30706883

RESUMO

NeuLaxova syndrome (NLS) is a rare congenital abnormality involving multiple systems. Until date, only 60 cases of this syndrome have been reported in the literature. A stillborn fetus from a 23-year-old female with bad obstetrics history and consanguinity marriage, presented at 41 weeks gestation and not appreciating fetal movements for the past 3 days. Ultrasound examination revealed the absence of fetal cardiac activity and features of growth retardation. The fetus was sent for pathological examination. At autopsy, fetus had ichthyosis over the scalp and face, depressed nasal bridge, low set ears, microcephaly, slopping forehead, wide interdigital spaces, edema of hands and feet, hypoplastic penis, right leg showed congenital talipes equinovarus and left leg showed rocker bottom foot. On dissection, all organs were in situ. Both lungs were hypoplastic, brain was atrophied, and heart showed right ventricle hypertrophied. A diagnosis of NLS was made. Genetic counseling and early serial ultrasound examination should be performed at high-risk families because of its autosomal recessive mode of inheritance. Early diagnosis of the disease may offer termination of the pregnancy as an option. The prognosis is poor, and the affected newborns are either stillborn or die immediately after birth.


Assuntos
Anormalidades Múltiplas/diagnóstico , Encefalopatias/diagnóstico , Retardo do Crescimento Fetal/diagnóstico , Feto/patologia , Transtornos do Crescimento/congênito , Ictiose/diagnóstico , Deformidades Congênitas dos Membros/diagnóstico , Microcefalia/diagnóstico , Encéfalo/patologia , Encefalopatias/congênito , Consanguinidade , Face/patologia , Feminino , Idade Gestacional , Transtornos do Crescimento/diagnóstico , Humanos , Recém-Nascido , Cariotipagem , Microcefalia/etiologia , Pais , Gravidez , Fatores de Risco , Natimorto , Adulto Jovem
5.
Asia Pac J Clin Nutr ; 28(Suppl 1): S32-S42, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30729773

RESUMO

BACKGROUND AND OBJECTIVES: Low birth weight leads to growth faltering, attributable inter alia to malnutrition and maternal health and literacy. Risk for growth faltering in rural children under five is studied. STUDY DESIGN: The Risk Approach Strategy in Tanjungsari, West Java has been analysed for all pregnancies during 1988-1989 and 4,698 singleton infants born between 1 January 1988 and 31 April 1990. Weight and body length/height measurements were repeated over 60 months, and plotted against WHO standards. Weight-for-age and height-forage z-scores were calculated using 2006 WHO growth as reference. The correlation between shortness (so-called stunting) and its presumptive risk factors was determined. A subset underwent DNA analysis for insulin-like growth factor-1 (IGF-1), and insulin receptor substrate-1 (IRS-1) polymorphism. RESULTS: Weight and body length/height follow-ups were followed-up for 3795 infants; 14.2% of the cohort had low birth weight (<2500 g) (LBW) and 85.8% normal birth weight (NBW). LBW infants showed a similar velocity but tended to catch up more slowly (GEE; p<0.001). Relative to WHO references, the differential for stature increased with age, largely offset by reduced weight-for-age so that weight-for-height tracked close to the WHO reference; this contrasts with more divergence internationally. Birth length and weight, along with potable water access were correlated with stunting for children under 2 years. Neither the observed IGF-1, IRS-1 or combined gene polymorphisms were associated with LBW. Conclusions: The prediction by factors operative during pregnancy for early life stature, with some adaptation for LBW infants, endures to 60 months.


Assuntos
Transtornos do Crescimento/diagnóstico , Recém-Nascido de Baixo Peso/crescimento & desenvolvimento , Adolescente , Adulto , Peso ao Nascer , Estatura , Peso Corporal , Pré-Escolar , Feminino , Transtornos do Crescimento/epidemiologia , Transtornos do Crescimento/fisiopatologia , Humanos , Indonésia/epidemiologia , Lactente , Recém-Nascido , Fator de Crescimento Insulin-Like I/genética , Estudos Longitudinais , Masculino , Polimorfismo Genético , Gravidez , Prevalência , Análise de Regressão , Fatores de Risco , Adulto Jovem
6.
Eur J Pediatr ; 178(4): 593-603, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30740618

RESUMO

Growth impairment together with bone and joint involvement is common to most patients with mucopolysaccharidosis (MPS) disorders. The genetic basis for these metabolic disorders involves various enzyme deficiencies responsible for the catabolism of glycosaminoglycans (GAGs). The incomplete degradation and subsequent accumulation of GAGs result in progressive tissue damage throughout the body. Bone ossification is particularly affected, with the consequent onset of dysostosis multiplex which is the underlying cause of short stature. Joint manifestations, whether joint contractures (MPS I, II, VI, VII) or hyperlaxity (MPS IV), affect fine motor skills and quality of life. Subtle decreases in growth velocity can begin as early as 2-4 years of age. Pediatricians are in the front line to recognize or suspect MPS. However, given the rarity of the disorders and variable ages of symptom onset depending on disease severity, recognition and diagnostic delays remain a challenge, especially for the attenuated forms. Prompt diagnosis and treatment can prevent irreversible disease outcomes.Conclusion: We present a diagnostic algorithm based on growth velocity decline and bone and joint involvement designed to help pediatricians recognize early manifestations of attenuated forms of MPS. We illustrate the paper with examples of abnormal growth curves and subtle radiographic nuances. What is Known: • As mucopolysaccharidoses (MPSs) are rare genetic disorders infrequently seen in clinical practice, there can be a lag between symptom onset and diagnosis, especially of attenuated forms of the disease. • This highlights the need for increased disease awareness to recognize early clinical signs and subsequently initiate early treatment to improve outcomes (normal height potential) and possibly prevent or delay the development of irreversible disease manifestations. What is New: • Growth impairment co-presenting with limited range of joint motion and radiographic anomalies in children should raise suspicions of possible attenuated MPS (AMPS). • Experts present a diagnostic algorithm with detailed focus on the decline in growth velocity, delayed puberty and limitation in joint mobility seen in children with AMPS, to shorten time-to-diagnosis and treatment and potentially improve patient outcome.


Assuntos
Mucopolissacaridoses/diagnóstico , Adolescente , Criança , Pré-Escolar , Gráficos de Crescimento , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/metabolismo , Humanos , Mucopolissacaridoses/fisiopatologia , Amplitude de Movimento Articular
7.
Neonatal Netw ; 38(1): 27-33, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30679253

RESUMO

Extrauterine growth restriction (EUGR) affects a significant number of very low birth weight (VLBW) infants and has the potential to impact neurodevelopmental outcome as well as other aspects of long-term health. More aggressive nutritional approaches have reduced the incidence of postnatal growth failure but many questions remain about the expected rate of growth for very preterm infants, the best ways to measure growth velocity, and the optimal approaches to supporting growth. This article examines some of the outstanding issues regarding postnatal growth failure and summarizes current practice recommendations.


Assuntos
Transtornos do Crescimento , Recém-Nascido de Baixo Peso , Doenças do Prematuro , Terapia Nutricional , Peso ao Nascer , Desenvolvimento Infantil , Idade Gestacional , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/fisiopatologia , Transtornos do Crescimento/terapia , Humanos , Recém-Nascido de Baixo Peso/crescimento & desenvolvimento , Recém-Nascido de Baixo Peso/fisiologia , Recém-Nascido , Doenças do Prematuro/diagnóstico , Doenças do Prematuro/fisiopatologia , Doenças do Prematuro/terapia , Enfermagem Neonatal/educação , Terapia Nutricional/efeitos adversos , Terapia Nutricional/métodos
8.
Arch Pediatr ; 26(2): 102-107, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30638765

RESUMO

BACKGROUND AND OBJECTIVES: Sanjad-Sakati syndrome (SSS; OMIM 241410) is a rare autosomal recessive disorder found almost exclusively in people of Arab origin. It is characterized by congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, and distinct facial dysmorphism. The molecular pathology of this syndrome was shown to be due to a mutation in the tubulin-specific chaperone E (TBCE) gene in chromosomal area 1q42-q43. We aimed to detect and confirm the common mutation responsible for SSS in Tunisian patients and review the literature in order to create a set of clinical diagnostic criteria that might provide appropriate indications for molecular testing. METHODS: Three Tunisian patients with clinical feature of SSS were examined via direct Sanger sequencing of exon 3 of the TBCE gene. RESULTS: Mutation analysis of the TBCE gene revealed the common 12-bp (155-166del) deletion in three new patients, thus raising the number of reported SSS patients to 73. Reviewing the literature, we suggest a scoring system that assigns one point each for major criteria and one half point for minor criteria. INTERPRETATION AND CONCLUSIONS: SSS is an autosomal recessive disorder found in the Middle Eastern population with an estimated incidence of 1 per 40,000-100,000 live births in Saudi Arabia. Reviewing the literature on both its clinical and biochemical characteristics, we suggest for the first time, based on defined major and minor SSS criteria, a clinical scoring system for the diagnosis of SSS. On the one hand, an established scoring system will provide appropriate indications for molecular testing and, on the other hand, reviewed data on SSS will help delineate the phenotype and draw a distinction between differential diagnoses.


Assuntos
Anormalidades Múltiplas/diagnóstico , Transtornos do Crescimento/diagnóstico , Hipoparatireoidismo/diagnóstico , Deficiência Intelectual/diagnóstico , Chaperonas Moleculares/genética , Osteocondrodisplasias/diagnóstico , Convulsões/diagnóstico , Anormalidades Múltiplas/genética , Consenso , Feminino , Marcadores Genéticos , Transtornos do Crescimento/genética , Humanos , Hipoparatireoidismo/genética , Lactente , Recém-Nascido , Deficiência Intelectual/genética , Masculino , Osteocondrodisplasias/genética , Convulsões/genética , Deleção de Sequência , Tunísia
9.
J Pediatr Endocrinol Metab ; 32(2): 173-179, 2019 Feb 25.
Artigo em Inglês | MEDLINE | ID: mdl-30676998

RESUMO

Background When evaluating peripubertal short stature patients, the interpretation of insulin-like growth factor 1 (IGF-1) levels based on chronological age (CA) can be inaccurate due to the influence of sex steroids and, presently, there is no evidence to support the assessment of IGF-1 values according to bone age (BA) and pubertal status (PS). Our objective was to assess the discriminatory performance of IGF-1 levels based on CA, BA and PS in the diagnosis of growth hormone (GH) deficiency. Methods We evaluated IGF-1 levels from 154 peripubertal short stature patients classified as GH deficient (GHD, n=23) or non-GHD (n=131). IGF-1 was assayed by a chemiluminescent immunometric assay and transformed into standard deviation scores (SDS) according to CA (IGF-1-SDS-CA), BA (IGF-1-SDS-BA) and PS (IGF-1-SDS-PS). Results The performances of IGF-1-SDS-CA, IGF-1-SDS-BA and IGF-1-SDS-PS in the receiver operator characteristics (ROC) curves were similar. There were greater accuracy and specificity of IGF-1-SDS-PS (98.4% and 93.3%, respectively) and IGF-1-SDS-BA (92.7% and 90.1%, respectively) when compared to IGF-1-SDS-CA (65.6% and 69.5%, respectively). The post-test probability of the IGF-1-SDS was also improved when compared to PS and BA - 44.8% (IGF-1-SDS-PS), 16.8% (IGF-1-SDS-BA) and 5.1% (IGF-1-SDS-CA), with similar negative predictive values. Conclusions The evaluation of IGF-1 levels based on CA has a higher sensitivity than those based on BA or PS, which justify its use as a screening tool. Additionally, IGF-1 assessed by PS has the best positive predictive power for GHD diagnosis in peripubertal age and could reduce the necessity of a second GH stimulation test.


Assuntos
Biomarcadores/sangue , Transtornos do Crescimento/diagnóstico , Hormônio do Crescimento Humano/deficiência , Fator de Crescimento Insulin-Like I/análise , Puberdade , Adolescente , Criança , Estudos Transversais , Feminino , Seguimentos , Transtornos do Crescimento/sangue , Humanos , Masculino , Valor Preditivo dos Testes , Curva ROC , Estudos Retrospectivos
10.
Pediatr Transplant ; 23(1): e13306, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30593730

RESUMO

RTx is currently the best treatment for children with ESRD. This study retrospectively analyzed the outcomes of growth after RTx using the pediatric-to-pediatric allocation strategy and some factors that may affect it. From March 2012 to August 2016, 8 en bloc and 38 single pediatric RTxs were performed at our center using organs from small pediatric deceased donors (weight < 15 kg). Growth before and after RTx was analyzed according to the height-for-age z-score at RTx, the 3-year follow-up, and adulthood and compared between the procedures. The chi-square test and multiple linear regression analysis were used for statistical analyses. Overall, 79.2% of children were diagnosed with chronic nephritis before RTx; 14.6% of cases were due to congenital urinary tract malformation, and 6.3% of cases were due to unknown causes. All grafts and patients survived postoperatively. The mean estimated GFRs were 92.7 ± 28.6 mL/min/1.73 m2 , 100.9 ± 32.3 mL/min/1.73 m2 , and 110.1 ± 34.8 mL/min/1.73 m2 at 1, 2, and 3 years' postoperatively, respectively. The children's postoperative growth and development, particularly during the first year postoperatively, improved but were negatively correlated with age and the height-for-age z-score before RTx. The growth of children after RTx was moderate and accelerated during prepubescence. The rate of post-RTx growth during the first year postoperatively was unrelated to the recipient's sex or duration of dialysis (P > 0.05) but was negatively correlated with age at RTx (r = -0.349, P = 0.043). Future studies on the long-term outcomes are still needed.


Assuntos
Estatura , Peso Corporal , Seleção do Doador/métodos , Transtornos do Crescimento/etiologia , Falência Renal Crônica/cirurgia , Transplante de Rim , Complicações Pós-Operatórias/etiologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Seguimentos , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/epidemiologia , Humanos , Modelos Lineares , Masculino , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos , Fatores de Risco , Doadores de Tecidos , Resultado do Tratamento , Adulto Jovem
11.
Am J Med Genet C Semin Med Genet ; 178(4): 432-439, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30580482

RESUMO

Rhombencephalosynapsis (RES) is a unique cerebellar malformation characterized by fusion of the cerebellar hemispheres with partial or complete absence of a recognizable cerebellar vermis. Subsets of patients also have other brain malformations such as midbrain fusion with aqueductal stenosis, characteristic craniofacial features (prominent forehead, flat midface, hypertelorism, ear abnormalities), and somatic malformations (heart, kidney, spine, and limb defects). Similar to known genetic brain malformations, the RES cerebellar malformation is highly stereotyped, yet no genetic causes have been identified. Here, we outline our current understanding of the genetic basis for RES, discuss limitations, and outline future approaches to identifying the causes of this fascinating brain malformation.


Assuntos
Doenças Cerebelares/diagnóstico , Doenças Cerebelares/genética , Cerebelo/anormalidades , Transtornos do Crescimento/diagnóstico , Rombencéfalo/anormalidades , Transtornos do Crescimento/genética , Humanos , Rombencéfalo/patologia
12.
Am J Med Genet C Semin Med Genet ; 178(4): 387-397, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30580484

RESUMO

Dubowitz syndrome was described in 1965 as a recognizable syndrome characterized by microcephaly, short stature, eczema, mild developmental delays, and an increased risk of malignancy. Since its original description, there have been over 200 reported cases though no single gene has been identified to explain a significant proportion of affected individuals. Since the last definitive review of Dubowitz syndrome in 1996, there have been 63 individuals with a clinical, or suspected, diagnosis of Dubowitz syndrome reported in 51 publications. These individuals show a markedly wide spectrum with respect to growth, facial gestalt, psychomotor development, and risk of malignancy; genetic causes were identified in 33% (21/63). Seven individuals had deleterious copy number variants, in particular deletions at 14q32 and 17q24 were reported and showed overlap with the Dubowitz phenotype. Several cases were shown to have single gene disorders that included de novo or biallelic pathogenic variants in several genes including NSUN2 and LIG4 frequently identified by next-generation sequencing methods. It appears that the inability to identify a single gene responsible for Dubowitz syndrome reflects its extreme clinical and genetic heterogeneity. However, detailed phenotyping combined with careful grouping of subsets of unsolved cases and in conjunction with data-sharing will identify novel disease genes responsible for additional cases. In the interim, for those clinically diagnosed with a Dubowitz phenotype, we recommend assessment by a Medical Geneticist, a microarray and, if available, clinical or research based genome-wide sequencing. Management suggestions, including decisions regarding malignancy screening in select patients will be discussed.


Assuntos
Eczema/diagnóstico , Eczema/terapia , Heterogeneidade Genética , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/terapia , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/terapia , Microcefalia/diagnóstico , Microcefalia/terapia , Criança , Gerenciamento Clínico , Eczema/genética , Facies , Feminino , Transtornos do Crescimento/genética , Humanos , Deficiência Intelectual/genética , Masculino , Metanálise como Assunto , Microcefalia/genética , Fenótipo , Prognóstico
13.
An. pediatr. (2003. Ed. impr.) ; 89(3): 153-161, sept. 2018. tab
Artigo em Espanhol | IBECS | ID: ibc-177086

RESUMO

Objetivos: Conocer la prevalencia de patología psiquiátrica en atención primaria en la Galicia atlántica. Métodos: Se realizó un estudio observacional, descriptivo, transversal de prevalencia, en 9 consultas de A Coruña y Pontevedra, con una población de 8.293 niños, entre septiembre y noviembre del 2015. Se incluyó a 1.286 pacientes entre 0 y 14 años que acudieron a las consultas en unos días aleatoriamente seleccionados. Se registraron los siguientes datos de la historia clínica: edad, sexo, diagnóstico psiquiátrico establecido por criterios DSM-IV-TR en sus 5 ejes. Se determinó qué profesionales intervinieron en el diagnóstico y tratamiento del proceso y qué tipo de tratamiento recibían. Se obtuvo la autorización del Comité de Ética de Investigación de Galicia número 2015/427. Resultados: Ciento cuarenta y ocho de los 1.286 pacientes presentaban patología psiquiátrica (11,5%, IC del 95%, 9,73-13,29), 68% varones. Entre los 0 y 5 años la prevalencia fue del 4,5%; entre los 6 y 10 del 18,5% y entre los 11 y 14, del 22%. El tiempo de duración de los síntomas tenía una mediana de 25 meses. Las patologías más frecuentes en los 1.286 pacientes fueron TDAH (5,36%), trastornos del lenguaje (3,42%), trastornos del aprendizaje (3,26%) trastornos ansioso-depresivos (2,4%) y trastornos de la conducta (1,87%). De los 148 casos, el 47% presentaba comorbilidad con otro trastorno mental; la mayoría precisó atención por múltiples profesionales del ámbito social, sanitario y educativo; un 33% recibía tratamiento psicofarmacológico. Conclusiones: La prevalencia de patología psiquiátrica en pediatría de atención primaria es frecuente, crónica y compleja, aumenta con la edad y precisa muchos recursos sanitarios, educativos y sociales


Objectives: To determine the prevalence of psychiatric disorders in primary care pediatrics in Atlantic Galicia. Methods: An observational, descriptive, cross-sectional prevalence study was carried out in 9 outpatient clinics in A Coruña and Pontevedra with a population of 8293 children between September and November 2015. A total of 1286 randomly selected patients from 0 to 14 years of age were included. From the medical history was registered: age, sex, psychiatric diagnosis established by DSM-IV-TR criteria in its five axes, professionals who participated in the diagnosis and treatment of the process and what type of treatment was received. Authorization was obtained from the Research Ethics Committee of Galicia number 2015/427. Results: 148 of 1286 patients presented psychiatric pathology (11,5% IC 95% 9.73-13,29), 68% male. Between 0 and 5 years, the prevalence was 4.5%; between 6 y and 10 y, 18.5% and between 11y and 14 y 22%. Symptoms lasted a median of 25 months. The most frequent pathologies in 1286 patients were ADHD (5.36%), language disorders (3.42%), learning disorders (3.26%), anxiety-depressive disorders (2.4%) and behavior disorders (1.87%). Of the 148 cases, 47% had comorbidity with another mental disorder. Most of them required attention by multiple social, health and educational professionals; 33% received psychopharmacological treatment. Conclusions: The prevalence of psychiatric disorders in pediatric primary care is frequent, chronic and complex, increases with age and requires many health, educational and social resources


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Transtornos do Comportamento Infantil/epidemiologia , Transtorno da Conduta/epidemiologia , Transtornos do Neurodesenvolvimento/epidemiologia , Deficiências do Desenvolvimento , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/terapia , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/terapia , Estudos Transversais , Estudo Observacional , Espanha/epidemiologia
14.
BMJ Case Rep ; 20182018 Aug 10.
Artigo em Inglês | MEDLINE | ID: mdl-30097546

RESUMO

We present a case of a child with pancreatic insufficiency and facial defects typical of Johanson-Blizzard syndrome (JBS), along with the more facultative anomalies of the JBS, such as those of the urogenital system including persistent urogenital sinus, urethral duplication and dysplastic kidneys. Fetal ultrasound in a 21-year-old G1P1 woman revealed ambiguous genitalia. Examination at birth revealed a phallic structure with urethral meatus, non-palpable gonads, two orifices in close proximity in the perineum, with the anterior being a common urogenital channel and the posterior, the rectum. A voiding cystourethrogram/genitogram showed bilateral high-grade vesicoureteral reflux and a common urogenital sinus extending 1.5 cm before dividing into three channels: the native urethra, an accessory urethra directed anteriorly towards the clitoris and a septate vagina with uterus didelphys. JBS was suspected by clinical presentation and confirmed by UBR1 molecular testing (46,XX). At 16 months of age, she underwent feminising genitoplasty and posterior sagittal anorectoplasty.


Assuntos
Anus Imperfurado/diagnóstico , Displasia Ectodérmica/diagnóstico , Transtornos do Crescimento/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Hipotireoidismo/diagnóstico , Deficiência Intelectual/diagnóstico , Nariz/anormalidades , Pancreatopatias/diagnóstico , Ultrassonografia Pré-Natal , Anormalidades Urogenitais/diagnóstico por imagem , Anus Imperfurado/cirurgia , Diagnóstico Diferencial , Displasia Ectodérmica/cirurgia , Feminino , Transtornos do Crescimento/cirurgia , Perda Auditiva Neurossensorial/cirurgia , Humanos , Hipotireoidismo/cirurgia , Recém-Nascido , Deficiência Intelectual/cirurgia , Nariz/cirurgia , Pancreatopatias/cirurgia , Gravidez , Adulto Jovem
15.
Homo ; 69(3): 139-145, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-30017377

RESUMO

This study aimed to define the differences in growth characteristics in the three most frequent causes of growth retardation - growth hormone deficiency, hypothyreosis and constitutional delay of growth and development - in order to provide diagnostic means for distinguishing these disorders. The study included 166 children with growth disorders aged 4-18 years. The height for age, the bone age using the TW3 method, the predicted height as the target height and the current prediction using the TW3 method were studied. For bone age, the radius, ulna and short bones compartment (RUS) and carpal bones (CARP) were evaluated separately and the difference in their delay in relation to chronological age (ΔBA_RUS_CARP) was determined. The relationship of the studied variables with sex and the underlying diagnosis was tested and the relationship of hypothyreosis and growth data was estimated. The model was tested on the growth data of 104 randomly selected patients with a growth disorder. The largest significant distinction was demonstrated by the difference ΔBA_RUS_CARP in hypothyreosis. The created linear regression model was highly statistically significant (χ2 = 19.4, p < 0.0001) and showed high selectivity (0.609, 95% CI 0.409; 0.808) as well as high specificity (0.864, 95% CI 0.781; 0.946). The clinical validity of the model demonstrated a 61% predictive value for the detection and an 81% successful specification of hypothyreosis. The study demonstrated the possibility of distinguishing suspected hypothyreosis from other causes of growth retardation based on differences in severity of the ossification delay in skeletal compartments of the hand.


Assuntos
Transtornos do Crescimento/diagnóstico , Hipotireoidismo/diagnóstico , Adolescente , Determinação da Idade pelo Esqueleto , Estatura , Desenvolvimento Ósseo , Ossos do Carpo/patologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Transtornos do Crescimento/patologia , Hormônio do Crescimento Humano/deficiência , Humanos , Hipotireoidismo/patologia , Modelos Lineares , Masculino , Modelos Biológicos , Rádio (Anatomia)/patologia , Ulna/patologia
16.
Nutrients ; 10(6)2018 Jun 13.
Artigo em Inglês | MEDLINE | ID: mdl-29899251

RESUMO

Despite a major decrease in undernutrition worldwide over the last 25 years, underweight and stunting in children still persist as public health issues especially in Africa and Asia. Adequate nutrition is one of the key factors for healthy growth and development of children. In this study, the associations between dairy consumption and nutritional status in the South East Asian Nutrition Survey (SEANUTS) were investigated. National representative data of 12,376 children in Indonesia, Malaysia, Thailand, and Vietnam aged between 1 and 12 years were pooled, representing nearly 88 million children in this age category. It was found that the prevalence of stunting and underweight was lower in children who consumed dairy on a daily basis (10.0% and 12.0%, respectively) compared to children who did not use dairy (21.4% and 18.0%, respectively) (p < 0.05). The prevalence of vitamin A deficiency and vitamin D insufficiency was lower in the group of dairy users (3.9% and 39.4%, respectively) compared to non-dairy consumers (7.5% and 53.8%, respectively) (p < 0.05). This study suggests that dairy as part of a daily diet plays an important role in growth and supports a healthy vitamin A and vitamin D status.


Assuntos
Desenvolvimento Infantil , Fenômenos Fisiológicos da Nutrição Infantil , Laticínios , Transtornos do Crescimento/fisiopatologia , Estado Nutricional , Magreza/fisiopatologia , Fatores Etários , Ásia Sudeste , Criança , Pré-Escolar , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/epidemiologia , Transtornos do Crescimento/prevenção & controle , Dieta Saudável , Humanos , Lactente , Inquéritos Nutricionais , Prevalência , Fatores de Proteção , Recomendações Nutricionais , Fatores de Risco , Magreza/diagnóstico , Magreza/epidemiologia , Magreza/prevenção & controle , Deficiência de Vitamina A/epidemiologia , Deficiência de Vitamina A/fisiopatologia , Deficiência de Vitamina D/epidemiologia , Deficiência de Vitamina D/fisiopatologia
17.
Pediatr. aten. prim ; 20(78): 195-200, abr.-jun. 2018. tab
Artigo em Espanhol | IBECS | ID: ibc-174705

RESUMO

La prematuridad continúa siendo la primera causa de morbimortalidad neonatal e infantil y constituye uno de los problemas de salud más importantes, sobre todo en la sociedad industrializada. La población de prematuros tardíos, que incluye a los niños nacidos entre las 340 y 366 semanas de edad gestacional, representa el 70-74% de todos los prematuros. Los prematuros tardíos presentan mayor incidencia de patología comparados con los recién nacidos a término y no solo en el periodo neonatal sino también durante la infancia, con unas mayores tasas de rehospitalización y consulta a los servicios de urgencias, un mayor riesgo de infecciones, de fallo de medro, de problemas respiratorios y de trastornos del neurodesarrollo. Nuestro objetivo debe ser poder realizar diagnósticos e intervenciones precoces, principalmente a nivel del neurodesarrollo, que multiplicarán la probabilidad de buena evolución. En esta línea, desde el grupo de trabajo SEN34-36 de la Sociedad Española de Neonatología, en colaboración con la Asociación Española de Pediatría de Atención Primaria, se ha desarrollado este documento de Recomendaciones de seguimiento del prematuro tardío, con el objetivo de sensibilizar a pediatras y neonatólogos de las patologías en las que los prematuros tardíos presentan mayor riesgo y sobre las que debemos focalizar nuestra atención, facilitando una guía de trabajo a los profesionales implicados en el seguimiento de este grupo de prematuros


Prematurity continues to be the leading cause of neonatal and infant morbidity and mortality and stands as one of the most important health problems, especially in industrialized countries. Late preterm infants are those born between 34 and 36 weeks of gestational age and represent 70-74% of all premature births. Late preterm infants show a higher incidence of pathology compared to term infant and not only in the neonatal period but also during childhood, with higher rates of hospital readmissions and visits to emergency services, an increased risk of infections, of failure to thrive, respiratory problems and neurodevelopmental disorders. Our objective will be to anticipate diagnoses and apply early interventions, mainly at the level of neurodevelopment, which will increase the likelihood of better outcomes. In this line, from the working group SEN34-36 of the Spanish Society of Neonatology and in collaboration with the Spanish Association of Pediatrics of Primary Care, this document of Recommendations for the follow-up of the late preterm infant has been edited in order to raise awareness among pediatricians and neonatologists about the most common pathologies in these babies, and on which we must focus our attention, thereby providing a working guide to the professionals involved in the follow-up of this group of premature infants


Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Adolescente , Recém-Nascido Prematuro/crescimento & desenvolvimento , Deficiências do Desenvolvimento/diagnóstico , Transtornos Psicomotores/diagnóstico , Sistema Nervoso/crescimento & desenvolvimento , Transtornos da Nutrição Infantil/diagnóstico , Transtornos do Crescimento/diagnóstico , Atenção Primária à Saúde
18.
Medicine (Baltimore) ; 97(18): e0656, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29718885

RESUMO

BACKGROUND: Mulvihill-Smith syndrome is a rare sporadic condition that was first recognized in 1975. A total of 11 cases have been described in the literature. The aim of this study was to describe the orofacial signs and dental anomalies, their frequency, and the relationship between Mulvihill-Smith syndrome and other progeroid syndromes via a review of the literature. METHODS: A systematic PubMed search was performed to retrieve articles published between 1975 and the present day that described patients affected by Mulvihill-Smith syndrome. The search identified 14 articles, and data on 11 patients were extracted from the selected articles. RESULTS: A total of 7 patients (63.6%) affected by Mulvihill-Smith syndrome were described as having a typical "bird" face. Dental abnormalities, including irregular shape, enamel defects, hypodontia, and taurodontism, were described in 6 patients (54.5%). All patients (100%) had multiple pigmented nevi on the face and a lack or thinning of subcutaneous tissue around the neck and face. Three patients with Mulvihill-Smith syndrome exhibited early onset of tumors of the gastrointestinal tract, including the tongue. CONCLUSION: Mulvihill-Smith syndrome is a clinically complex disease that may be caused by a single gene mutation. Numerous different tissues of the body are affected. This analysis of the orofacial signs may help clinicians to diagnose this rare pathology.


Assuntos
Anormalidades Craniofaciais , Transtornos do Crescimento , Anormalidades da Boca , Nevo Pigmentado , Progéria , Anormalidades Dentárias , Diagnóstico Diferencial , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/fisiopatologia , Humanos , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/fisiopatologia , Progéria/diagnóstico , Progéria/fisiopatologia
19.
Rev Chil Pediatr ; 89(1): 92-97, 2018 Feb.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-29664509

RESUMO

INTRODUCTION: Hydrocephalus is defined as complex conditions influenced by genetic and environmental factors. Excluding hydrocephalus acquired from infection or brain tumors, congenital hydrocephalus with a genetic cause may occur isolated (hydrocephalus isolated, pure or non-syndromatic) or as a component of a genetic syndrome (syndromic hydrocephalus). OBJECTIVE: To present a syndromic congenital hydrocephalus with a known diagnosis, in order to be considered in the study of this pathology and to perform a review of hydrocephaly with a genetic cause. CLINICAL CASE: Preschool with a prenatal diagnosis of hydrocephalus and rhombencephalosynapsis, karyotype and study of TORCH was normal. At the moment of birth, the prenatal diagnoses were confirmed and a malformation of cerebral cortical development was excluded. During the first week of life, perito neal ventricle shunt was performed. A reevaluation at age 4, the absence of corneal reflexes bilate ral parietal and congenital focal alopecia associated with rhombencephalosynapsis, meet definitive criteria for cerebello-trigeminal-dermal displasia or Gómez-López-Hernández syndrome (GLHS). CONCLUSIONS: GLHS is an uncommon neurocutaneous syndrome, possibly a sporadic condition that is underdiagnosed. Due to the new imaging and genetic technologies pre and post-natal, today it is possible to achieve a better and more accurate diagnosis of hydrocephalus with a genetic origin, in which the high suspicion of teams of clinical specialists is essential. Without accurate diagnosis, we can not access to a long-term prognosis, prevention of aggregate morbidity or an adequate genetic counseling, which are required in today's pediatrics.


Assuntos
Anormalidades Múltiplas/diagnóstico , Alopecia/diagnóstico , Cerebelo/anormalidades , Anormalidades Craniofaciais/diagnóstico , Transtornos do Crescimento/diagnóstico , Hidrocefalia/congênito , Síndromes Neurocutâneas/diagnóstico , Pré-Escolar , Humanos , Hidrocefalia/diagnóstico , Recém-Nascido , Masculino , Rombencéfalo
20.
BMC Endocr Disord ; 18(1): 20, 2018 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-29609574

RESUMO

BACKGROUND: Growth hormone deficiency (GHD) is a potential consequence of traumatic brain injury (TBI), including sport-related concussion (SRC). GH stimulation testing is required for definitive diagnosis; however, this is resource intensive and can be associated with adverse symptoms or risks. Measurement of serum IGF-1 is more practical and accessible, and pituitary tumour patients with hypopituitarism and low serum IGF-1 have been shown to have a high probability of GHD. We aimed to evaluate IGF-1 measurement for diagnosing GHD in our local TBI population. METHODS: We conducted a retrospective chart review of patients evaluated for GHD at the TBI clinic and referred for GH stimulation testing with insulin tolerance test (ITT) or glucagon stimulation test (GST) since December 2013. We obtained demographics, TBI severity, IGF-1, data pertaining to pituitary function, and GH stimulation results. IGF-1 values were used to calculate z-scores per age and gender specific reference ranges. Receiver operator curve analysis was performed to evaluate diagnostic threshold of IGF-1 z-score for determining GHD by GST or ITT. RESULTS: Sixty four patient charts were reviewed. 48 patients had mild, six had moderate, eight had severe TBI, and two had non-traumatic brain injuries. 47 patients underwent ITT or GST. 27 were confirmed to have GHD (peak hGH < 5 µg/L). IGF-1 level was within the age and gender specific reference range for all patients with confirmed GHD following GH stimulation testing. Only one patient had a baseline IGF-1 level below the age and gender specific reference range; this patient had a normal response to GH stimulation testing. ROC analysis showed IGF-1 z-score AUC f, confirming lack of diagnostic utility. CONCLUSION: Baseline IGF-1 is not a useful predictor of GHD in our local TBI population, and therefore has no value as a screening tool. TBI patients undergoing pituitary evaluation will require a dynamic test of GH reserve.


Assuntos
Traumatismos em Atletas/complicações , Biomarcadores/sangue , Concussão Encefálica/complicações , Lesões Encefálicas Traumáticas/complicações , Transtornos do Crescimento/diagnóstico , Hormônio do Crescimento Humano/deficiência , Fator de Crescimento Insulin-Like I/análise , Adulto , Traumatismos em Atletas/fisiopatologia , Concussão Encefálica/fisiopatologia , Lesões Encefálicas Traumáticas/fisiopatologia , Feminino , Seguimentos , Transtornos do Crescimento/sangue , Transtornos do Crescimento/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos
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