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1.
Int J Mol Sci ; 25(11)2024 Jun 06.
Artículo en Inglés | MEDLINE | ID: mdl-38892456

RESUMEN

Postoperative pain (POP) is a challenging clinical phenomenon that affects the majority of surgical patients and demands effective management to mitigate adverse outcomes such as persistent pain. The primary goal of POP management is to alleviate suffering and facilitate a seamless return to normal function for the patient. Despite compelling evidence of its drawbacks, opioid analgesia remains the basis of POP treatment. Novel therapeutic approaches rely on multimodal analgesia, integrating different pharmacological strategies to optimize efficacy while minimizing adverse effects. The recognition of the imperative role of the endocannabinoid system in pain regulation has prompted the investigation of cannabinoid compounds as a new therapeutic avenue. Cannabinoids may serve as adjuvants, enhancing the analgesic effects of other drugs and potentially replacing or at least reducing the dependence on other long-term analgesics in pain management. This narrative review succinctly summarizes pertinent information on the molecular mechanisms, clinical therapeutic benefits, and considerations associated with the plausible use of various cannabinoid compounds in treating POP. According to the available evidence, cannabinoid compounds modulate specific molecular mechanisms intimately involved in POP. However, only two of the eleven clinical trials that evaluated the efficacy of different cannabinoid interventions showed positive results.


Asunto(s)
Cannabinoides , Manejo del Dolor , Dolor Postoperatorio , Humanos , Dolor Postoperatorio/tratamiento farmacológico , Cannabinoides/uso terapéutico , Cannabinoides/farmacología , Manejo del Dolor/métodos , Analgesia/métodos , Animales , Analgésicos/uso terapéutico , Analgésicos/farmacología , Endocannabinoides/metabolismo , Endocannabinoides/uso terapéutico
2.
Opt Lett ; 45(16): 4432-4435, 2020 Aug 15.
Artículo en Inglés | MEDLINE | ID: mdl-32796976

RESUMEN

No general approach is available yet to measure directly the ratio between chromatic dispersion and the nonlinear coefficient, and hence the soliton number for a given optical pulse, in an arbitrary guiding medium. Here we solve this problem using continuum generation. We experimentally demonstrate our method in polarization-maintaining and single-mode fibers with positive and negative chromatic dispersion. Our technique also offers new opportunities to determine the chromatic dispersion of guiding media over a broad spectral range while pumping at a fixed wavelength.

3.
Pain Med ; 19(7): 1304-1314, 2018 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-29016846

RESUMEN

Objective: To assess the impact of the empathy of physicians, perceived by patients with chronic pain, regarding pain relief and health-related quality of life (HR-QoL). Methods: A prospective noninterventional study was conducted in 2,898 patients with moderate to severe chronic pain who were referred to pain clinics. The same physician visited each patient at baseline and after one and three months. Study questionnaires included the Jefferson Scale of Patient Perceptions of Physician Empathy (JSPPPE), the Life Orientation Test-Revised (LOT-R), the Pain Coping Questionnaire (CAD-R), the Brief Pain Inventory Short Form (BPI-SF), and the EuroQol-5D (EQ-5D). Regression analyses were used to evaluate the independent contribution of the changes in perceived empathy over pain intensity and improvement of HR-QoL. Results: BPI-SF scores for pain intensity, rated as worst, least, average, and current pain, decreased significantly (P < 0.001) from baseline to month 3, with reductions of 33.7%, 42.5%, 40.0%, and 46.9%, respectively. Pain intensity decreased from 6.3 ± 1.5 at baseline to 4.7 ± 1.8 at one month and 3.8 ± 1.9 at three months (P < 0.050). Significant (P < 0.001) improvements in the EQ-5D tariff (+37.1%) and EQ-5D VAS (+26.7%) were also recorded. In the linear regression analysis, JSPPPE and LOT-R, but not CAD-R, were significantly associated with pain relief and HR-QoL. Conclusions: Physicians' empathy and patients' dispositional optimism have a role in determining positive outcomes in patients with chronic pain. Physicians' empathy may therefore be a suitable, yet relatively unexplored, target for intervention.


Asunto(s)
Dolor Crónico/psicología , Empatía , Clínicas de Dolor , Manejo del Dolor/psicología , Relaciones Médico-Paciente , Calidad de Vida/psicología , Adulto , Anciano , Dolor Crónico/epidemiología , Dolor Crónico/terapia , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Manejo del Dolor/métodos , Estudios Prospectivos , España/epidemiología
4.
Biomed Pharmacother ; 177: 117054, 2024 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-38943991

RESUMEN

Spinal opioids have mixed efficacy and their adverse effects force treatment cessation of postoperative pain. Consequently, there is an ongoing search for new therapeutic strategies. Here, we evaluated the analgesic efficacy of intrathecal UCM707, an anandamide reuptake inhibitor, and morphine combination. Firstly, we assessed the effects of morphine (1, 5 and 10 µg), UCM707 (75 µg) and its combination in the hot plate. Then, morphine + UCM707 at sub-effective doses was evaluated in a rat post-incisional pain model. In addition, µ-, CB1r-, CB2r- and TRPV1-antagonists were pre-administered before the combination. Activation of µ-opioid and CB1r, and Cnr1, Cnr2, Oprm1 and TRPV1 expressions were evaluated in the lumbar sacra and periaqueductal grey by [35 S]-GTPγS binding autoradiography and qPCR studies. In the hot plate, morphine (1 µg) and UCM707 (75 µg) induced a more robust analgesic effect than each drug alone. Morphine plus UCM707 did not modify µ-opioid nor CB1 receptor function in the PAG or LS. Cnr1 and TRPV1 expression increased in the lumbar sacra (LS). Morphine plus UCM707 significantly reduced post-incisional pain at 1 and 4 days after surgery. Cnr1, Cnr2 and TRPV1 expressions increased in the LS. Blockade of µ-opioid receptor reduced combination effects on days 1 and 4. CB1r- and CB2r-antagonism reduced morphine + UCM707 effects on days 1 and 4, respectively. CB1r and TRPV1-antagonism improved their antinociceptive effects on day 4. These results revealed a synergistic/additive analgesic effect of UCM707 and morphine combination controlling postincisional pain. CB1r, CB2r and TRPV1 contribute differently as central sensitization occurs.

5.
Clin Endocrinol (Oxf) ; 78(2): 255-62, 2013 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-22738321

RESUMEN

CONTEXT: IGF-I is essential for normal human growth and mediates its effects through the IGF1R. IGF1R mutations have been associated with varying degrees of intrauterine and postnatal growth retardation. OBJECTIVE: To identify IGF1R gene mutations in a short-statured family with intrauterine growth retardation and microcephaly. METHODS: Direct DNA sequencing was used to identify IGF1R mutations. Multiplex ligation-dependent probe amplification analyses were performed for deletions and duplications of all IGF1R exons. Functional studies were conducted to assess mutation pathogenicity. RESULTS: A novel heterozygous IGF1R missense mutation in exon 7 (c.A1549T, p.Y487F) was identified in a short-statured girl with severe prenatal growth retardation and microcephaly. The same mutation was also identified in her mother, who presented prenatal and postnatal growth failure, and her short-statured maternal grandmother, both of whom exhibited microcephaly. The index case showed a partial response to rhGH. Functional studies performed in dermal fibroblasts from the index case and her mother showed normal IGF-I binding; however, IGF-I activation of intracellular signalling measured as AKT and extracellular signal-regulated kinase phosphorylation was markedly reduced, with patients' values being lower than those of her mother. IGF-I stimulation of DNA synthesis was significantly reduced compared with controls. CONCLUSION: Our results show a novel missense mutation in the IGF1R gene (c.A1549T, p.Y487F) associated with prenatal and postnatal growth failure and microcephaly in the context of familial short stature. The functional studies are in line with the inactivation of one copy of the IGF1R gene with variable expression within the same family.


Asunto(s)
Retardo del Crecimiento Fetal/genética , Mutación Missense/genética , Receptor IGF Tipo 1/genética , Adulto , Niño , ADN , Análisis Mutacional de ADN , Quinasas MAP Reguladas por Señal Extracelular/genética , Quinasas MAP Reguladas por Señal Extracelular/metabolismo , Femenino , Regulación del Desarrollo de la Expresión Génica , Predisposición Genética a la Enfermedad , Humanos , Microcefalia , Persona de Mediana Edad , Linaje , Embarazo , Proteínas Proto-Oncogénicas c-akt/genética , Proteínas Proto-Oncogénicas c-akt/metabolismo , Receptor IGF Tipo 1/metabolismo
6.
Am J Epidemiol ; 175(9): 867-77, 2012 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-22494952

RESUMEN

Recombinant human growth hormone (rhGH) therapy is used in the long-term treatment of children with growth disorders, but there is considerable treatment response variability. The exon 3-deleted growth hormone receptor polymorphism (GHR(d3)) may account for some of this variability. The authors performed a systematic review (to April 2011), including investigator-only data, to quantify the effects of the GHR(fl-d3) and GHR(d3-d3) genotypes on rhGH therapy response and used a recently established Bayesian inheritance model-free approach to meta-analyze the data. The primary outcome was the 1-year change-in-height standard-deviation score for the 2 genotypes. Eighteen data sets from 12 studies (1,527 children) were included. After several prior assumptions were tested, the most appropriate inheritance model was codominant (posterior probability = 0.93). Compared with noncarriers, carriers had median differences in 1-year change-in-height standard-deviation score of 0.09 (95% credible interval (CrI): 0.01, 0.17) for GHR(fl-d3) and of 0.14 (95% CrI: 0.02, 0.26) for GHR(d3-d3). However, the between-study standard deviation of 0.18 (95% CrI: 0.10, 0.33) was considerable. The authors tested by meta-regression for potential modifiers and found no substantial influence. They conclude that 1) the GHR(d3) polymorphism inheritance is codominant, contrasting with previous reports; 2) GHR(d3) genotypes account for modest increases in rhGH effects in children; and 3) considerable unexplained variability in responsiveness remains.


Asunto(s)
Proteínas Portadoras/genética , Trastornos del Crecimiento/tratamiento farmacológico , Hormona de Crecimiento Humana/uso terapéutico , Modelos Genéticos , Teorema de Bayes , Niño , Heterogeneidad Genética , Humanos , Polimorfismo Genético , Sesgo de Publicación
7.
Clin Endocrinol (Oxf) ; 77(4): 564-74, 2012 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-22489751

RESUMEN

OBJECTIVE: Molecular causes of isolated severe growth hormone deficiency (ISGHD) in several genes have been established. The aim of this study was to analyse the contribution of growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to GH deficiency in a series of prepubertal ISGHD patients and to normal adult height. DESIGN, SUBJECTS AND MEASUREMENTS: A systematic GHRHR gene sequence analysis was performed in 69 ISGHD patients and 60 normal adult height controls (NAHC). Four GHRHR single-nucleotide polymorphisms (SNPs) were genotyped in 248 additional NAHC. An analysis was performed on individual SNPs and combined genotype associations with diagnosis in ISGHD patients and with height-SDS in NAHC. RESULTS: Twenty-one SNPs were found. P3, P13, P15 and P20 had not been previously described. Patients and controls shared 12 SNPs (P1, P2, P4-P11, P16 and P21). Significantly different frequencies of the heterozygous genotype and alternate allele were detected in P9 (exon 4, rs4988498) and P12 (intron 6, rs35609199); P9 heterozygous genotype frequencies were similar in patients and the shortest control group (heights between -2 and -1 SDS) and significantly different in controls (heights between -1 and +2 SDS). GHRHR P9 together with 4 GH1 SNP genotypes contributed to 6·2% of height-SDS variation in the entire 308 NAHC. CONCLUSIONS: This study established the GHRHR gene sequence variation map in ISGHD patients and NAHC. No evidence of GHRHR mutation contribution to ISGHD was found in this population, although P9 and P12 SNP frequencies were significantly different between ISGHD and NAHC. Thus, the gene sequence may contribute to normal adult height, as demonstrated in NAHC.


Asunto(s)
Enanismo Hipofisario/genética , Variación Genética/genética , Receptores de Neuropéptido/genética , Receptores de Hormona Reguladora de Hormona Hipofisaria/genética , Estatura/genética , Estatura/fisiología , Niño , Enanismo Hipofisario/sangre , Hormona de Crecimiento Humana/sangre , Humanos , Polimorfismo de Nucleótido Simple/genética
8.
An Pediatr (Engl Ed) ; 94(2): 68-74, 2021 Feb.
Artículo en Español | MEDLINE | ID: mdl-32446672

RESUMEN

INTRODUCTION: The metabolically healthy obese (MHO) phenotype defines obese patients who have preserved insulin sensitivity and absence of metabolic complications. This phenotype is associated with a lower risk of cardiovascular disease and type2 diabetes in adulthood. OBJECTIVES: To determine the prevalence of MHO and the metabolically unhealthy obesity (MUO) phenotype in a cohort of obese children and adolescents and to establish the predictive capacity of the tri-ponderal mass index (TMI) and other anthropometric parameters in order to identify these patients. PATIENTS AND METHODS: A cross-sectional study was conducted on 239 obese patients (125males) from 8 to 18years of age. Grade3 obesity was present in 45.9% of the patients. ROC curves were used to find the best cut-off point for: TMI, body mass index (BMI), BMI z-score (BMIzs), and waist/height index (WHI). MHO components: plasma blood glucose, plasma triglycerides, HDL-cholesterol, and blood pressure. RESULTS: The prevalence of MUO in the study cohort was 62.4%. No differences between genders were observed, and it was increasing with the age and obesity degree. The TMI has a sensitivity of 75.8 and a specificity of 42.2 to identify the MUO patients. The best cut-off point for TMI is 18.7kg/m3, for BMI it was 30.4kg/m2, for BMIzs +3.5SD, and 0.62 for WHI. CONCLUSIONS: The diagnostic accuracy of TMI in identifying obese adolescents with metabolic risk was similar to BMI and WHI. However, the TMI is much simpler to use and simplifies the categorization of the obesity in both genders.


Asunto(s)
Índice de Masa Corporal , Resistencia a la Insulina , Obesidad Infantil , Adolescente , Niño , Estudios Transversales , Femenino , Humanos , Masculino , Obesidad Metabólica Benigna/diagnóstico , Obesidad Infantil/diagnóstico , Fenotipo
9.
Acta Paediatr ; 99(10): 1498-503, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-20456274

RESUMEN

AIM: To evaluate the neurodevelopmental outcome at 12 months' corrected age in preterm infants with and without severe intrauterine growth restriction. METHODS: This prospective follow-up study included 37 infants with severe intrauterine growth restriction and 36 appropriate-for-gestational-age infants born between 26 and 34 weeks. Neonatal and infant data were prospectively recorded. Infants were assessed at 12 ± 2 months' corrected age with the Hammersmith Infant Neurological Examination and the Bayley Scale for Infant Development version-II. RESULTS: Both groups were similar in demographic characteristics and perinatal status. No significant differences in neurodevelopmental performance were found. The mental development index was 98.8 (SD 9.0) vs 98.4 (SD 13.1) (p = 0.9) and the psychomotor development index was 91.7 (SD 9.9) vs 95.5 (SD 13.4) (p = 0.2) for the study and reference groups respectively. Neurological assessment showed no significant differences between the two groups. CONCLUSION: Although the study group showed a non-significant trend towards a lower score in the psychomotor development index than the reference group, significant differences at 12 months could not be demonstrated. IUGR infants continued to have significantly lower weight, length and head circumference at 1 year.


Asunto(s)
Retardo del Crecimiento Fetal/fisiopatología , Recien Nacido Prematuro/crecimiento & desarrollo , Estatura , Peso Corporal , Comorbilidad , Femenino , Retardo del Crecimiento Fetal/epidemiología , Cabeza/crecimiento & desarrollo , Humanos , Recién Nacido , Leucomalacia Periventricular/epidemiología , Leucomalacia Periventricular/fisiopatología , Masculino , Estudios Prospectivos , Desempeño Psicomotor
10.
J Pediatr Endocrinol Metab ; 23(8): 833-6, 2010 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-21073127

RESUMEN

A rare case of glycogen storage disease type III with unusually absent ketone body production during hypoglycemia is presented. A 10-month-old boy presented with asymptomatic hepatomegaly. GOT/GPT 2555/1160 IU/L, CK 302 IU/L, triglycerides 1223 mg/dL, cholesterol 702 mg/dL and uric acid 7.9 mg/dL. After a 9-hour fast, glucose was 27 mg/dL and adequate lipolysis without ketogenesis was observed (total/free carnitine 34.5/20 micromol/L, free fatty acids 1620 micromol/L and beta-hydroxybutyrate 172 micromol/L). Result of MCT (medium-chain triglycerides) load test: basal hydroxybutyrate 29 micromol/L rose to 5748 micromol/L. Treatment with a fat-restricted diet supplemented with formula containing MCT was initiated and the patient presented a satisfactory initial evolution. Three months later, CK were 3000 IU/L. Muscle biopsy was diagnostic of glycogenosis. Enzymatic activity in skin fibroblasts was 0% for amylo-1,6-glucosidase. The diagnosis of glycogenosis type III was established. Echocardiography performed at that time showed non-obstructive ventricular hypertrophy. Until now hypoketosis during hypoglycemia has only been described in glycogenosis type I.


Asunto(s)
Enfermedad del Almacenamiento de Glucógeno Tipo III/diagnóstico , Cetosis/diagnóstico , Enfermedades Asintomáticas , Pruebas de Química Clínica , Dietoterapia , Enfermedad del Almacenamiento de Glucógeno Tipo III/complicaciones , Enfermedad del Almacenamiento de Glucógeno Tipo III/metabolismo , Hepatomegalia/etiología , Hepatomegalia/metabolismo , Hepatomegalia/patología , Humanos , Hipoglucemia/etiología , Hipoglucemia/metabolismo , Hipoglucemia/patología , Lactante , Cetosis/etiología , Cetosis/metabolismo , Masculino , Músculo Esquelético/enzimología , Músculo Esquelético/patología , Músculo Esquelético/fisiopatología
11.
J Clin Endocrinol Metab ; 105(10)2020 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-32652002

RESUMEN

CONTEXT: Individual patients vary in their response to growth hormone (GH). No large-scale genome-wide studies have looked for genetic predictors of GH responsiveness. OBJECTIVE: To identify genetic variants associated with GH responsiveness. DESIGN: Genome-wide association study (GWAS). SETTING: Cohorts from multiple academic centers and a clinical trial. PATIENTS: A total of 614 individuals from 5 short stature cohorts receiving GH: 297 with idiopathic short stature, 276 with isolated GH deficiency, and 65 born small for gestational age. INTERVENTION: Association of more than 2 million variants was tested. MAIN OUTCOME MEASURES: Primary analysis: individual single nucleotide polymorphism (SNP) association with first-year change in height standard deviation scores. Secondary analyses: SNP associations in clinical subgroups adjusted for clinical variables; association of polygenic score calculated from 697 genome-wide significant height SNPs with GH responsiveness. RESULTS: No common variant associations reached genome-wide significance in the primary analysis. The strongest suggestive signals were found near the B4GALT4 and TBCE genes. After meta-analysis including replication data, signals at several loci reached or retained genome-wide significance in secondary analyses, including variants near ST3GAL6. There was no significant association with variants previously reported to be associated with GH response nor with a polygenic predicted height score. CONCLUSIONS: We performed the largest GWAS of GH responsiveness to date. We identified 2 loci with a suggestive effect on GH responsiveness in our primary analysis and several genome-wide significant associations in secondary analyses that require further replication. Our results are consistent with a polygenic component to GH responsiveness, likely distinct from the genetic regulators of adult height.


Asunto(s)
Estatura/efectos de los fármacos , Enanismo Hipofisario/tratamiento farmacológico , Sitios Genéticos , Hormona de Crecimiento Humana/uso terapéutico , Estatura/genética , Niño , Estudios de Cohortes , Enanismo Hipofisario/genética , Femenino , Galactosiltransferasas/genética , Estudio de Asociación del Genoma Completo , Humanos , Recién Nacido Pequeño para la Edad Gestacional , Masculino , Chaperonas Moleculares/genética , Pruebas de Farmacogenómica/estadística & datos numéricos , Polimorfismo de Nucleótido Simple , Sialiltransferasas/genética , Resultado del Tratamiento
12.
Eur J Pediatr ; 168(1): 65-9, 2009 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-18414894

RESUMEN

DAX1 gene (Xp21) expression is involved in the development of the hypothalamo-pituitary-gonadal and adrenal axes, and acts as a negative regulator of steroidogenesis. Mutations of this gene determine adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism. We report the case of a 9-month-old boy referred for the study of macrogenitosomia and pubic hair development. He had presented acute adrenal crises in the neonatal period and, later, a clinical picture of peripheral precocious puberty. A mutation in the DAX1 gene was found (Trp291Arg) and a diagnosis of AHC was made. Replacement doses of hydrocortisone (HC) (10 mg/m2/day) failed to produce a feedback inhibition of adrenocorticotropic hormone (ACTH), and testosterone levels remained high. Testosterone and ACTH values normalized after HC was progressively increased to 18 mg/m2/day. In conclusion, peripheral precocious puberty in patients with DAX1 gene mutations appears to be secondary to the stimulus exerted by ACTH on melanocortin receptors in Leydig cells and to the overexpression of testicular steroidogenesis activators by the loss of transcriptional repression.


Asunto(s)
Hormona Adrenocorticotrópica/metabolismo , Proteínas de Unión al ADN/genética , Enfermedades Hipotalámicas/genética , Enfermedades Hipotalámicas/metabolismo , Mutación Puntual/genética , Receptores de Ácido Retinoico/genética , Proteínas Represoras/genética , Receptor Nuclear Huérfano DAX-1 , Humanos , Lactante , Masculino
13.
J Pediatr Endocrinol Metab ; 22(6): 487-92, 2009 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-19694195

RESUMEN

BACKGROUND: A prospective study was conducted to evaluate low-density lipoprotein-cholesterol (LDL-C) lowering efficacy and tolerability of ezetimibe as monotherapy in children and adolescents with polygenic hypercholesterolemia (PH) or familial hypercholesterolemia (FH). METHODS AND RESULTS: Children with PH (n=6) or FH (n=11) aged 5-15 years were consecutively enrolled to receive ezetimibe as monotherapy at 10 mg/day for 11.3 +/- 7.3 and 15.9 +/- 10.1 months, respectively. Plasma biochemical and lipid profiles were assessed before and after treatment. Ezetimibe significantly lowered total cholesterol (TC) and LDL-C in patients with PH and FH: TC from 260.5 +/- 12.4 to 180.0 +/- 21.6 mg/dl (p = 0.02) and from 315.3 +/- 41.8 to 233.3 +/- 36.8 mg/dl (p = 0.003), respectively, and LDL-C from 177.1 +/- 17.7 to 102.6 +/- 16.7 mg/dl (p = 0.02) and from 243.0 +/- 41.8 to 170.0 +/- 29.8 mg/dl (p = 0.003), respectively. However, high-density lipoprotein-cholesterol (HDL-C) only decreased significantly (from 58.1 +/- 10.0 to 49.3 +/- 9.1 mg/dl) (p < 0.01) in patients with FH and remained unaltered in patients with PH. Triglyceride levels remained unchanged in both groups. Biochemical profile (hemogram, transaminases, creatinine, calcium, phosphorus and liposoluble vitamins A and E) remained unchanged; no adverse effects were observed. CONCLUSIONS: Our data show that ezetimibe as monotherapy significantly lowered TC and LDL-C in children with PH and FH.


Asunto(s)
Anticolesterolemiantes/uso terapéutico , Azetidinas/uso terapéutico , Hipercolesterolemia/tratamiento farmacológico , Hiperlipidemia Familiar Combinada/tratamiento farmacológico , Adolescente , Niño , HDL-Colesterol/sangre , HDL-Colesterol/efectos de los fármacos , LDL-Colesterol/sangre , LDL-Colesterol/efectos de los fármacos , Ezetimiba , Femenino , Humanos , Hipercolesterolemia/sangre , Hipercolesterolemia/genética , Hiperlipidemia Familiar Combinada/sangre , Masculino , Estudios Prospectivos , Resultado del Tratamiento , Triglicéridos/sangre
14.
J Pediatr Endocrinol Metab ; 22(8): 715-26, 2009 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-19845122

RESUMEN

BACKGROUND: Age at pubertal growth spurt (PGS) onset varies and is sex-dependent. We present anthropometric pubertal growth data for five 1-year interval age maturity groups: very early, early, intermediate, late and very late. METHODS: Longitudinal growth study of 458 healthy children (223 boys, 235 girls). Ages at PGS onset and at adult height attainment, total pubertal growth (TPG), and peak height velocity (PHV) were evaluated. PGS begins between the ages of 10 and 15 in boys and 8 and 13 in girls; children were allocated to the corresponding 1-year interval age maturity group. RESULTS: For each sex, the earlier the start of PGS onset, the higher were PHV and TPG gain. However, adult heights were similar among the five pubertal maturity groups. Height SDS values for mean values of the very early, early, late and very late maturity groups calculated according to data from the five pubertal maturity groups taken together as a single group differed from zero in both sexes, mainly during the pubertal years for the very early (> +1) and very late (> -1) maturers. These differences disappeared at adult height. CONCLUSIONS: Our data might contribute to better clinical evaluation of pubertal growth according to individual pubertal maturity tempo.


Asunto(s)
Estatura/fisiología , Pubertad/fisiología , Adolescente , Factores de Edad , Niño , Femenino , Humanos , Estudios Longitudinales , Masculino , España
15.
Pediatr Pulmonol ; 54(6): 837-846, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-30912317

RESUMEN

INTRODUCTION: Pulmonary interstitial glycogenosis (PIG) is a rare infant interstitial lung disease characterized by an increase in the number of interstitial mesenchymal cells, presenting as enhanced cytoplasmic glycogen, and is considered to represent the expression of an underlying lung development disorder. METHODS: This study describes the clinical, radiological, and functional characteristics and long-term outcomes (median 12 years) of nine infants diagnosed with isolated PIG associated with alveolar simplification in the absence of other diseases. RESULTS: All patients presented with tachypnea. Additionally, seven patients had breathing difficulties and hypoxemia. Abnormalities in chest-computerized tomography (CT) with a pattern of ground-glass opacity, septal thickening, and air trapping were observed in all individuals, with images suggesting abnormal alveolar growth (parenchymal bands and architectural distortion). All lung biopsies showed alveolar simplification associated with an increased number of interstitial cells, which appeared as accumulated cytoplasmic glycogen. In the follow-up, all patients were asymptomatic. The respiratory function test was normal in only two patients. Five children showed an obstructive pattern, and two children showed a restrictive pattern. Chest-CT, performed after an average of 6.5 years since the initial investigation, revealed a partial improvement of the ground-glass opacity pattern; however, relevant alterations persisted. CONCLUSION: Although the patients with PIG in the absence of other associated pathologies had a good clinical outcome, significant radiographic alterations and sequelae in lung function were still observed after a median follow-up of 12 years, suggesting that PIG is a marker of some other persistent abnormalities in lung growth, which have effects beyond the symptomatic period.


Asunto(s)
Enfermedad del Almacenamiento de Glucógeno/diagnóstico , Enfermedades Pulmonares Intersticiales/diagnóstico , Alveolos Pulmonares/patología , Biopsia , Niño , Preescolar , Citoplasma/metabolismo , Progresión de la Enfermedad , Disnea , Femenino , Estudios de Seguimiento , Glucógeno/metabolismo , Enfermedad del Almacenamiento de Glucógeno/complicaciones , Humanos , Hipoxia , Lactante , Recién Nacido , Pulmón/diagnóstico por imagen , Enfermedades Pulmonares Intersticiales/complicaciones , Masculino , Taquipnea , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
16.
J Clin Endocrinol Metab ; 93(1): 147-53, 2008 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-17925340

RESUMEN

CONTEXT: In short small-for-gestational-age (SGA) patients, the exon 3-deleted(d3)/full-length (fl)-GHR polymorphism was associated with responsiveness to GH therapy (30-48 microg/kg.d); however, these results were not confirmed for higher GH doses (56-66 microg/kg.d). We hypothesized that higher doses would mask the lower dose differences. OBJECTIVE: Our objective was to evaluate, in short SGA patients, 2-yr growth response to GH therapy (32.1 +/- 3.8 microg/kg.d) according to exon d3/fl-GHR genotypes. SETTING: This was a 2-yr follow-up study. PATIENTS: There was a total of 60 short SGA children (d3/d3 n = 8, d3/fl n = 23, and fl/fl n = 29). There were 11 children that entered puberty during the second follow-up year. Results were evaluated for all patients (group A1, n = 60, 7.7 +/- 2.7 yr) and for patients who remained prepubertal (group A2, n = 49, 6.9 +/- 2.2 yr). MAIN OUTCOME MEASURES: Patients were followed by a single clinical team, and exon d3/fl-GHR genotypes were determined and analyzed in the same hospital. RESULTS: In groups A1 and A2, growth velocity significantly (P < 0.0001) increased during the first and second years of therapy, as did height sd score (SDS). These increases were similar in each exon d3/fl-GHR genotype. Total 2-yr height gain (cm, SDS) did not differ statistically among genotypes: group A1, 15.0 +/- 2.0 cm and 1.15 +/- 0.45 SDS in d3/d3, 16.0 +/- 2.4 cm and 1.17 +/- 0.51 SDS in d3/fl, 16.1 +/- 2.4 cm and 1.15 +/- 0.53 SDS in fl/fl; and group A2, 15.4 +/- 2.0 cm and 1.03 +/- 0.42 SDS in d3/d3, 15.6 +/- 2.1 cm and 1.22 +/- 0.51 in d3/fl, and 16.2 +/- 2.6 cm and 1.21 +/- 0.56 SDS in fl/fl. CONCLUSIONS: These results did not confirm our hypothesis and show that, in short SGA children, 2-yr growth response to GH therapy 32.1 +/- 3.8 microg/kg.d was similar for each exon d3/fl-GHR genotype carried, as occurred in our previous study using 66 microkg.d.


Asunto(s)
Trastornos del Crecimiento/tratamiento farmacológico , Trastornos del Crecimiento/genética , Terapia de Reemplazo de Hormonas/métodos , Hormona de Crecimiento Humana/administración & dosificación , Receptores de Somatotropina/genética , Niño , Exones , Femenino , Genotipo , Trastornos del Crecimiento/metabolismo , Humanos , Factor I del Crecimiento Similar a la Insulina/metabolismo , Masculino , Polimorfismo Genético , Estudios Retrospectivos
18.
J Pediatr Endocrinol Metab ; 21(3): 237-43, 2008 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-18540250

RESUMEN

AIM: To assess thyroid function in 76 sick preterm infants 30-36 weeks gestational age. PATIENTS AND METHODS: Measurement of serum TSH, T4, T3, free T4 and rT3 in the mother and cord at delivery, and in the infant at 1 and 24 hours, 1 and 3 weeks, 2, 4, 6 and 12 months of postnatal age. These values were compared with those of 75 healthy age-matched controls. Gestational age was 30 weeks in 24, 31 weeks in 23, 32 weeks in 13, 33 weeks in 13, 34 weeks in one, 35 weeks in one and 36 weeks in one. Hypothyroxinemia at each postnatal age was defined as serum free T4 values under -2 SD of the mean of controls. RESULTS: Forty-four patients were normothy-roxinemic at all times, and 32 presented hypothyroxinemia at 24 hours (29 patients), 1 week (seven patients) and 3 weeks (two patients). Follow-up of 31 patients who were normothyroxinemic at 24 hours of life showed that at one week three (9.7%) were hypothyroxinemic and at 3 weeks all were normothyroxinemic. At 24 hours of life, all patients with patent ductus arteriosus and all patients treated with dopamine were in the hypothyroxinemic range. CONCLUSION: Hypothyroxinemia may be present in sick preterm infants 30-36 weeks of gestational age, particularly in those treated with dopamine and/or presenting patent ductus arteriosus.


Asunto(s)
Edad Gestacional , Hipotiroidismo/sangre , Enfermedades del Recién Nacido/sangre , Recien Nacido Prematuro/sangre , Glándula Tiroides/fisiología , Estudios de Casos y Controles , Femenino , Humanos , Recién Nacido , Enfermedades del Recién Nacido/epidemiología , Estudios Longitudinales , Tamizaje Neonatal , Estudios Prospectivos , Pruebas de Función de la Tiroides , Tirotropina/sangre , Tiroxina/sangre , Triyodotironina/sangre
19.
Med Clin (Barc) ; 131(7): 245-9, 2008 Sep 06.
Artículo en Español | MEDLINE | ID: mdl-18775214

RESUMEN

BACKGROUND AND OBJECTIVE: "Niñ@s en movimiento" is an interventional programme (11 weekly sessions of 90 minutes' duration) designed to modify psychological aspects and nutritional and life style habits in obese children aged 6-12 and in their families. PATIENTS AND METHOD: Eighty-one obese children (46 girls, 35 boys), 6-12 years of age were included. Body mass index (BMI), Mediterranean diet (KIDMED), anxiety (CMAS-R) and depression tests (CDS) were evaluated in at the start and end of the programme. RESULTS: In 72 patients (88.9%) BMI decreased from a mean (standard deviation) 27.8 (3.8) to 26.5 (3.6) kg/m(2) (p < 0.001) and from 3.3 (1,4) to 2.6 (1.2) kg/m(2) (p < 0.001). Diary fruit intake increased from 63.3% to 82.7% of patients (p < 0.001) and greens from 45.6% to 88,2% of patients (p < 0.001). Breakfast intake of industrial cakes decreased from 17.7% to 1.3% of patients (p < 0.001) and the number of patients who skipped breakfast changed from 36.7% to 11.7% (p < 0.001). Anxiety and depression scores fell from 53.46 (27.69) to 47.22 (26.3) (p < 0.03) and from 29.68 to 16.88 (p < 0.001), respectively. The relative risks of suffering a depressive or anxiety disorder dropped from 38.8% to 22.5% (p < 0.001) and from 15% to 8.2% (p = 0.01) of the patients respectively. CONCLUSIONS: Application of the "Niñ@s en movimiento" programme leads to a decrease in BMI and in anxiety and depression scores and an increase in Mediterranean diet score.


Asunto(s)
Pesos y Medidas Corporales , Dieta Mediterránea , Estilo de Vida , Obesidad/psicología , Obesidad/terapia , Ansiedad/etiología , Niño , Depresión/etiología , Femenino , Humanos , Masculino , Obesidad/complicaciones , Sobrepeso/psicología , Sobrepeso/terapia
20.
Med Clin (Barc) ; 130(17): 645-9, 2008 May 10.
Artículo en Español | MEDLINE | ID: mdl-18501126

RESUMEN

BACKGROUND AND OBJECTIVE: In both sexes, postnatal growth differs among subjects due to differences in age at which pubertal growth begins. However, little is known on the influence of this fact on normal adult height distribution. Our aim was to compare adult height reached in the 5 maturing groups, according to age at pubertal onset. SUBJECTS AND METHOD: Two-hundred and thirty healthy subjects (115 girls, and 115 boys) were followed longitudinally by 2 pediatricians from birth to adult height. Height was evaluated 1-3 times/year and the corresponding growth chart was made. Growth velocity (cm/year), age at pubertal growth start, pubertal growth gain, age at adult height and adult height were recorded for each subject. According to the age at start of pubertal growth, subjects were distributed in 5 maturing groups: 8-9 years (n = 10), 9-10 years (n = 29), 10-11 years (n = 45), 11-12 years (n = 23) and 12-13 years (n = 8) in girls, and 10-11 years (n = 10), 11-12 years (n = 26), 12-13 years (n = 45), 13-14 years (n = 27) and 14-15 years (n = 7) in boys. RESULTS: In both sexes, statistically-significant differences (p < 0.01) were found for mean height values at start of pubertal growth and for mean total pubertal height gain values (p < 0.0001) when the 5 maturing groups were compared among themselves. However, such differences were not found when mean adult height values were compared among the 5 groups or when these values were compared with adult height values obtained in other recent Spanish longitudinal and cross-sectional growth studies. A statistically-significant correlation (p

Asunto(s)
Estatura , Desarrollo Infantil/fisiología , Pubertad/fisiología , Adolescente , Adulto , Factores de Edad , Antropometría , Niño , Femenino , Humanos , Masculino , España
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