Precisión diagnóstica del índice de masa triponderal (kg/m3) para identificar el fenotipo de riesgo metabólico en pacientes obesos / Diagnostic accuracy of the tri-ponderal mass index in identifying the unhealthy metabolic obese phenotype in obese patients

INTRODUCCIÓN: El fenotipo obeso metabólicamente sano (FOMS) define a los pacientes obesos que tienen preservada la sensibilidad a la insulina y que no presentan complicaciones metabólicas. Este fenotipo se asocia a menor riesgo de padecer enfermedad cardiovascular y diabetes tipo2 en la edad adulta. OBJETIVOS: Determinar la prevalencia del FOMS y del fenotipo obeso con riesgo metabólico (FORM) en una cohorte de niños y adolescentes obesos y establecer la capacidad predictiva del índice de masa triponderal (IMT) y de otros parámetros antropométricos para identificar a estos pacientes. PACIENTES Y MÉTODOS: Estudio transversal de 239 pacientes (125varones) obesos de 8 a 18años de edad. El 45,9% presentan obesidad grado3. Se utilizan las curvas ROC para buscar el mejor punto de corte para: IMT, índice de masa corporal (IMC), valor z-score del IMC (zsIMC) e índice cintura/talla (ICT). Componentes FOMS: glucemia plasmática, triglicéridos plasmáticos, colesterol HDL y presión arterial. RESULTADOS: La prevalencia del FORM en nuestra cohorte es del 62,4%, sin que se observen diferencias entre sexos, incrementándose con la edad y con el grado de obesidad. El IMT tiene una sensibilidad de 75,8 y una especificidad de 42,2 para identificar los pacientes FORM. El mejor punto de corte para el IMT es 18,7kg/m3, para el IMC 30,4kg/m2, para el zsIMC +3,5DE y para el ICT 0,62. CONCLUSIONES: La precisión diagnóstica del IMT para identificar niños y adolescentes con riesgo metabólico es similar al IMC y al ICT. No obstante, su cálculo es más sencillo y además facilita y simplifica la categorización del grado de obesidad en ambos sexos

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 (125 males) from 8 to 18 years 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 18.7 kg/m3, for BMI it was 30.4 kg/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

[Diagnostic accuracy of the tri-ponderal mass index in identifying the unhealthy metabolic obese phenotype in obese patients]. / Precisión diagnóstica del índice de masa triponderal (kg/m3) para identificar el fenotipo de riesgo metabólico en pacientes obesos.

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.

Measurement of the soliton number in guiding media through continuum generation.

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.

A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness.

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.

Papel de la inmunofluorescencia y el diagnóstico molecular en la caracterización de la discinesia ciliar primaria / Role of Immunofluorescence and Molecular Diagnosis in the Characterization of Primary Ciliary Dyskinesia

No disponible

Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long-term follow-up study.

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.

Índice de masa corporal e índice de masa triponderal de 1.453 niños no obesos ni malnutridos de la generación del milenio. Estudio longitudinal de Barcelona / Body mass index and tri-ponderal mass index of 1,453 healthy non-obese, non-undernourished millennial children. The Barcelona longitudinal growth study

INTRODUCCIÓN: Hasta el momento no se han comunicado valores del índice de masa corporal (IMC) ni del índice de masa triponderal (IMT) de niños sanos sin malnutrición ni obesidad de la generación del milenio. Nuestro objetivo fue obtener estos valores. Sujetos y métodos: Estudio longitudinal de crecimiento (1995-2017) en 1.453 niños sanos sin malnutrición ni obesidad de la generación del milenio desde el nacimiento (n = 477) o los 4 años de edad (n = 976) hasta los 18 años en mujeres y los 19 años en varones (25.851 mediciones antropométricas). RESULTADOS: En ambos sexos, los valores medios del IMC según la edad aumentaron entre el nacimiento y el año de edad, luego decrecieron hasta los 5 años de edad y finalmente aumentaron a partir de dicha edad. Los valores del IMT según la edad descendieron abruptamente en los 6 primeros años de vida y lentamente a partir de esa edad en ambos sexos. Aunque a algunas edades los valores medios del IMC difirieron de manera significativa entre los sexos, esas diferencias fueron pequeñas y de escasa relevancia clínica. Lo mismo ocurrió con los valores del IMT según la edad. Los puntos de corte del IMC según la edad obtenidos para definir la malnutrición (-2 DE) fueron similares a los propuestos por Cole y la OMS en ambos sexos. En cambio, los puntos de corte del IMC según la edad obtenidos para definir la obesidad (+2 DE) fueron menores en ambos sexos (1,0-5,3) en comparación con los propuestos por Cole y similares a los propuestos por la OMS hasta los 12 años en niñas y los 14 en niños, e inferiores (1,0-4,8) a los de la OMS a partir de dichas edades. CONCLUSIONES: Presentamos valores del IMC y el IMT según la edad de niños sanos sin malnutrición ni obesidad de la generación del milenio. No se observaron diferencias significativas entre los 2 sexos. Estos valores podrían emplearse para evaluar la malnutrición y la obesidad en poblaciones pediátricas actuales y para estudiar la relación entre el IMC y el IMT (según la edad) en la práctica clínica

INTRODUCTION: Body mass index-for age (BMI) and tri-ponderal mass index-for-age (TMI) values of healthy non-underweight, non-obese millennial children have not been reported until now. We aimed to obtain these values. Subjects and methods: Longitudinal growth study (1995-2017) of 1,453 healthy non-underweight, non-obese millennial children, from birth (n = 477) or from 4 years of age (n = 976) to 18 years in girls and 19 years in boys (25,851 anthropometric measurements). RESULTS: In each sex, mean BMI-for-age values increased from birth to one year, declined until 5 and increased from then onwards. Mean TMI-for-age values decreased abruptly during the first 6 years of age and slowly thereafter, in both sexes. Although, at some ages, mean BMI-for age values differed statistically between sexes, differences were scant and of poor clinical significance. The same occurred for TMI-for-age values. BMI-for-age cut-off values to define underweight status (-2 SD) were similar to those proposed by Cole and the WHO for both sexes. However, BMI-for-age cut-off values to define obesity (+2 SD) were lower in both sexes (1.0-5.3) than those proposed by Cole and similar to those proposed by the WHO until 12 in girls and 14 in boys and lower (1.0-4.8) from these ages onwards. CONCLUSIONS: BMI-for-age and TMI-for-age values of healthy non-underweight, non-obese millennial children are provided. No clinically relevant differences were observed between sexes. These values may be used to measure underweight status and obesity in present pediatric populations and to evaluate the relationship between BMI-for-age and TMI-for-age in a clinical setting

Crecimiento puberal de 1.453 niños sanos según la edad de inicio de la pubertad. Estudio longitudinal de Barcelona / Pubertal growth of 1.453 healthy children according to age at pubertal growth spurt onset. The Barcelona longitudinal growth study

INTRODUCCIÓN: El patrón de crecimiento puberal varía según la edad de inicio del brote de crecimiento puberal, que ocurre dentro de un período de 5 años (mujeres: 8-13 años; varones: 10-15 años). Se ha propuesto la necesidad de utilizar más de un patrón de referencia puberal. Nuestro objetivo fue obtener 5 patrones puberales a intervalos de un año. Sujetos y métodos: Estudio longitudinal (6 años de edad-talla adulta) de crecimiento en 1.453 niños sanos con evaluación de valores de talla, velocidad de crecimiento y peso para la edad. Según la edad de inicio del brote de crecimiento puberal, las mujeres se consideraron: maduradoras muy tempranas (8-9 años, n = 119), maduradoras tempranas (9-10 años, n = 157), maduradoras intermedias (10-11 años, n = 238), maduradoras tardías (11-12 años, n = 127) y maduradoras muy tardías (12-13 años, n = 102); los varones se consideraron: maduradores muy tempranos (10-11 años, n = 110), maduradores tempranos (11-12 años, n = 139), maduradores intermedios (12-13 años, n = 225), maduradores tardíos (13-14 años, n = 133) y maduradores muy tardíos (14-15 años, n = 103). Se registró la edad de la menarquia y el crecimiento desde esta hasta alcanzar la talla adulta. RESULTADOS: En ambos sexos se observaron diferencias estadísticamente significativas (p < 0,0001) y clínicamente relevantes en el patrón de crecimiento puberal (valores medios de talla para la edad, velocidad de crecimiento para la edad y ganancia de talla puberal) entre los 5 grupos maduradores y entre cada uno de ellos y la población total, a pesar de que los valores de la talla adulta fueron similares en todos los grupos. Se observó la misma tendencia en relación con la edad de la menarquia y la ganancia de talla desde la menarquia hasta la talla adulta (p < 0,05). CONCLUSIONES: En ambos sexos, el inicio del brote de crecimiento puberal es un hito crítico que determina el crecimiento puberal y el desarrollo sexual. Nuestros datos contribuyen a una mejor evaluación clínica del crecimiento de acuerdo con el tempus madurativo de cada niño, obviando los errores que se cometen con el uso de un único patrón de referencia puberal

INTRODUCTION: Pubertal growth pattern differs according to age at pubertal growth spurt onset which occurs over a five years period (girls: 8-13 years, boys: 10-15 years). The need for more than one pubertal reference pattern has been proposed. We aimed to obtain five 1-year-age-interval pubertal patterns. Subjects and methods: Longitudinal (6 years of age-adult height) growth study of 1,453 healthy children to evaluate height-for-age, growth velocity-for-age and weight-for-age values. According to age at pubertal growth spurt onset girls were considered: very-early matures (8-9 years, n = 119), early matures (9-10 years, n = 157), intermediate matures (10-11 years, n = 238), late matures (11-12 years, n = 127) and very-late matures (12-13 years, n = 102), and boys: very-early matures (10-11 years, n = 110), early matures (11-12 years, n = 139), intermediate matures (12-13 years, n = 225), late matures (13-14 years, n = 133) and very-late matures (14-15 years, n = 103). Age at menarche and growth up to adult height were recorded. RESULTS: In both sexes, statistically-significant (P < .0001) and clinically-pertinent differences in pubertal growth pattern (mean height-for-age, mean growth velocity-for-age and mean pubertal height gain, values) were found among the five pubertal maturity groups and between each group and the whole population, despite similar adult height values. The same occurred for age at menarche and growth from menarche to adult height (P < .05). CONCLUSIONS: In both sexes, pubertal growth spurt onset is a critical milestone determining pubertal growth and sexual development. The contribution of our data to better clinical evaluation of growth according to the pubertal maturity tempo of each child will obviate the mistakes made when only one pubertal growth reference is used

Estudio Longitudinal de Crecimiento Barcelona 1995-2017 / Barcelona Longitudinal Growth Study 1995-2017

No disponible

[Pubertal growth of 1,453 healthy children according to age at pubertal growth spurt onset. The Barcelona longitudinal growth study]. / Crecimiento puberal de 1.453 niños sanos según la edad de inicio de la pubertad. Estudio longitudinal de Barcelona.

INTRODUCTION: Pubertal growth pattern differs according to age at pubertal growth spurt onset which occurs over a five years period (girls: 8-13 years, boys: 10-15 years). The need for more than one pubertal reference pattern has been proposed. We aimed to obtain five 1-year-age-interval pubertal patterns. SUBJECTS AND METHODS: Longitudinal (6 years of age-adult height) growth study of 1,453 healthy children to evaluate height-for-age, growth velocity-for-age and weight-for-age values. According to age at pubertal growth spurt onset girls were considered: very-early matures (8-9 years, n=119), early matures (9-10 years, n=157), intermediate matures (10-11 years, n=238), late matures (11-12 years, n=127) and very-late matures (12-13 years, n=102), and boys: very-early matures (10-11 years, n=110), early matures (11-12 years, n=139), intermediate matures (12-13 years, n=225), late matures (13-14 years, n=133) and very-late matures (14-15 years, n=103). Age at menarche and growth up to adult height were recorded. RESULTS: In both sexes, statistically-significant (P<.0001) and clinically-pertinent differences in pubertal growth pattern (mean height-for-age, mean growth velocity-for-age and mean pubertal height gain, values) were found among the five pubertal maturity groups and between each group and the whole population, despite similar adult height values. The same occurred for age at menarche and growth from menarche to adult height (P<.05). CONCLUSIONS: In both sexes, pubertal growth spurt onset is a critical milestone determining pubertal growth and sexual development. The contribution of our data to better clinical evaluation of growth according to the pubertal maturity tempo of each child will obviate the mistakes made when only one pubertal growth reference is used.

[Body mass index and tri-ponderal mass index of 1,453 healthy non-obese, non-undernourished millennial children. The Barcelona longitudinal growth study]. / Índice de masa corporal e índice de masa triponderal de 1.453 niños no obesos ni malnutridos de la generación del milenio. Estudio longitudinal de Barcelona.

INTRODUCTION: Body mass index-for age (BMI) and tri-ponderal mass index-for-age (TMI) values of healthy non-underweight, non-obese millennial children have not been reported until now. We aimed to obtain these values. SUBJECTS AND METHODS: Longitudinal growth study (1995-2017) of 1,453 healthy non-underweight, non-obese millennial children, from birth (n = 477) or from 4 years of age (n = 976) to 18 years in girls and 19 years in boys (25,851 anthropometric measurements). RESULTS: In each sex, mean BMI-for-age values increased from birth to one year, declined until 5and increased from then onwards. Mean TMI-for-age values decreased abruptly during the first 6years of age and slowly thereafter, in both sexes. Although, at some ages, mean BMI-for age values differed statistically between sexes, differences were scant and of poor clinical significance. The same occurred for TMI-for-age values. BMI-for-age cut-off values to define underweight status (-2 SD) were similar to those proposed by Cole and the WHO for both sexes. However, BMI-for-age cut-off values to define obesity (+2 SD) were lower in both sexes (1.0-5.3) than those proposed by Cole and similar to those proposed by the WHO until 12 in girls and 14 in boys and lower (1.0-4.8) from these ages onwards. CONCLUSIONS: BMI-for-age and TMI-for-age values of healthy non-underweight, non-obese millennial children are provided. No clinically relevant differences were observed between sexes. These values may be used to measure underweight status and obesity in present pediatric populations and to evaluate the relationship between BMI-for-age and TMI-for-age in a clinical setting.

Impact of Empathy in the Patient-Doctor Relationship on Chronic Pain Relief and Quality of Life: A Prospective Study in Spanish Pain Clinics.

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.

Tratamiento a largo plazo con análogos de GnRh en pacientes con endometriosis severa / Long-term treatment with GnRh analogs in patients with severe endometriosis

La endometriosis constituye aproximadamente un 15% de los diagnósticos de dolor pélvico crónico en nuestro medio. La complejidad del diagnóstico, que en muchas ocasiones requiere abordaje multidisciplinar, y la dificultad en su manejo, hacen de esta patología un auténtico reto para el ginecólogo. En casos leves, el manejo se realiza con analgésicos convencionales, preferiblemente antiinflamatorios no esteroideos, acompañados o no de contraceptivos orales combinados. En casos más graves se puede suprimir la función ovárica mediante análogos de hormona liberadora de gonadotropina que han demostrado efectividad no solo en la reducción del dolor, sino también en la disminución de tamaño de los implantes endometriósicos. La Food and Drug Administration no recomienda la terapia con análogos durante periodos superiores a 6 meses (prorrogables a 6 meses más llegando a un total de 12 meses) debido fundamentalmente al riesgo osteoporótico. Debido a este efecto secundario producido por la supresión de la función ovárica, se ha desarrollado una terapia denominada add back que se trata de administrar a las pacientes estrógenos y/o progesterona externos con el fin de paliar en cierta medida los efectos secundarios derivados del uso de análogos de hormona liberadora de gonadotropina. En este caso se expone la historia de una paciente con endometriosis severa que ha seguido tratamiento con análogos de la hormona liberadora de gonadotropina durante más de 10 años, junto con terapia hormonal con tibolona durante el mismo tiempo. Se estudia el efecto beneficioso sobre la patología de base, la aparición de efectos secundarios y la evolución de la endometriosis a lo largo de estos 10 años (AU)

Endometriosis is diagnosed in approximately 15% of every cases of chronic pelvic pain. Complexity of diagnosis that in many cases requires several disciplines and treatments make this pathology a challenge for the Gynecologist. In minor cases management is made with conventional analgesics as AINES combined or not with oral anticonceptives. In severe cases, ovaric suppression makes an option. This therapy has demonstrated effectiveness not only in reduction of pain scale but also decreases size of endometriosis implants. Food and Drug Administration does not recommend this therapy for periods larger than 6 months (with an option of 12 months) due to risk of osteoporosis. Due to this risk, add back therapy (Hormonal therapy with estrogens with/or progesterone) has been developed. In this case, it is presented the history of a patient with severe endometriosis that has been treated with analogues of gonadotropin-releasing hormone combined with tibolone during 10 years. It is studied the benefit over main patology, secondary effects and evolution of the endometriosis (AU)

Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature.

Microcephaly with simplified gyration, epilepsy and permanent neonatal diabetes syndrome (MEDS) is a recently described, autosomal recessive-inherited syndrome. We report the case of an infant presenting with lethargy at age five weeks and clinical findings of persistent hyperglycaemia and microcephaly with simplified gyration, suggestive of MEDS. The diagnosis was confirmed by the detection of a known c.233 T > C mutation in the IER3IP1 gene. Only eight cases of MEDS have been reported in the literature. We reviewed these with the aim of better delineating their clinical manifestations, which should allow earlier and more accurate diagnosis and genetic counseling.

Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.

17α-hydroxylase/17,20-lyase deficiency is a rare form of congenital adrenal hyperplasia caused by mutations in CYP17A1. Two phenotypic female sisters, aged 17 and 15 years and with 46,XY and 46,XX karyotypes, respectively, presented with primary amenorrhea and absent secondary sexual characteristics. The elder sib also presented with high blood pressure. Both patients had elevated levels of ACTH, gonadotropins, progesterone, corticosterone, and deoxycorticosterone, and reduced levels of estradiol, testosterone, androstenedione, 17-OH-P, DHEA-S, cortisol, aldosterone, and renin activity. The CYP17A1 gene was sequenced, and polymorphic haplotypes were further analyzed in the Spanish family and in Brazilian patients. The 2 sisters were compound heterozygous for p.Arg362Cys and p.Trp406Arg mutations, previously described as the most prevalent mutations in Brazilian families of Spanish (p.Trp406Arg) or Portuguese (p.Arg362Cys) origin. Analysis of polymorphisms in CYP17A1 suggested that the paternal allele with p.Arg362Cys may share a common origin with the Brazilian carriers, while the maternal allele with p.Trp406Arg did not. Hydrocortisone and sex hormone replacement therapy was initiated in both patients. In conclusion, one CYP17A1 mutation (p.Arg362Cys) may share a common ancestry in Brazilian and our present Spanish patients, while p.Trp406Arg may have arisen separately. The elder patient (46,XY) developed a more severe phenotype and a poorer response to estradiol replacement therapy.

Adiponectin, Leptin and Inflammatory Markers in HIV-associated Metabolic Syndrome in Children and Adolescents.

BACKGROUND: Metabolic syndrome (MetS) is more common in HIV-infected adults and children than in the general population. Adipocytokines and inflammatory markers may contribute to the pathophysiology of this condition and could be useful indices for monitoring MetS. The objective of this study was to provide information on the prevalence of MetS and investigate the role of adipocytokines and other biomarkers in this syndrome in HIV-infected pediatric patients. METHODS: A cross-sectional study was conducted between October 2013 and March 2014 in the outpatient clinics of 2 tertiary pediatric referral hospitals. Fifty-four HIV-infected children and adolescents were included. MetS was defined according to the International Diabetes Federation and modified National Cholesterol Education Program Adult Treatment Panel III criteria. Measurements included anthropometry, waist circumference, blood pressure, fasting lipids, glucose and insulin, adiponectin, leptin, interleukin-6, vitamin D and C-reactive protein and clinical lipodystrophy assessment. RESULTS: Among the total, 3.7% of patients met the International Diabetes Federation criteria for MetS and 7.4% met the National Cholesterol Education Program Adult Treatment Panel III criteria. C-reactive protein and leptin levels were significantly higher and adiponectin level significantly lower in patients with MetS, regardless of the criteria used. Insulin resistance was observed in 40.7% of patients; abnormal quantitative insulin sensitivity check index values were found in 88.9%. Eighteen patients (33.3%) had vitamin D deficiency. CONCLUSIONS: The prevalence of MetS was similar to that observed in larger cohorts of HIV-infected patients in our setting. Adipocytokine dysregulation seems to be related to MetS in HIV-infected children. A high percentage of patients showed insulin resistance, which should be strictly monitored.

Metabolic Syndrome in Children and Adolescents Living with HIV.

BACKGROUND: Metabolic syndrome (MetS) is considered an independent risk factor for developing cardiovascular disease. It is well known that the prevalence of metabolic disorders have increased in pediatric HIV-infected children. The objective of this study is to assess the prevalence and characteristics of MetS in HIV-infected children and adolescents in Spain. METHODS: A cross-sectional multicenter study in 152 patients from the pediatric cohort of the Spanish AIDS Research Network (CoRISpe) was performed. MetS was defined according to the new International Diabetes Federation (IDF) diagnostic criteria and the modified National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATP III) criteria. Measurements included anthropometry, waist circumference, blood pressure, fasting lipids, glucose and insulin and lipodystrophy assessment. Demographic, clinical, immunological, virological and antiretroviral therapy data were obtained from the Network database. RESULTS: An abnormally low high-density lipoprotein-cholesterol level was the most prevalent disturbance (21.05%) found. Three patients met IDF criteria for MetS (1.97%), and MetS was significantly associated with lipohypertrophy (P=0.029) in the analysis. When the modified NCEP-ATP III criteria were used, the prevalence of MetS was 5.92% (9 patients), and MetS was significantly associated with Tanner stage ≥2 (P=0.041), lipohypertrophy (P=0.001) and higher Z scores for weight and body mass index (P=0.002 and P<0.001). Insulin resistance was observed in 17 patients (11.18%) and was associated with MetS (as per the modified NCEP-ATP III criteria) (P=0.03) and lower high-density lipoprotein-cholesterol values (P=0.036). CONCLUSIONS: The prevalence of MetS in our cohort was 1.97% or 5.92%, depending on the diagnostic criteria used. MetS should be actively assessed, particularly in children who show lipohypertrophy.

Hysteroscopic myomectomy outcomes after 3-month treatment with either Ulipristal Acetate or GnRH analogues: a retrospective comparative study.

Ulipristal Acetate (UPA) modifies the endometrium, as well as fibroids, and therefore it might make hysteroscopic surgery more difficult. To confirm that pre-treatment with UPA is as safe and effective an option as pre-treatment with GnRH analogues, considered the gold standard. We present the first series of 26 hysteroscopic myomectomies after 3 months treatment with UPA and we compare the results with a series of 24 cases pretreated with GnRH analogues. This was a retrospective cohort study between July 2013 and May 2015. We analyszed patients with submucous myomas >2.5 in diameter. Hysteroscopic myomectomy was performed after 3 months of treatment with either UPA (5mg daily) or the GnRH agonist (3.75mg/month). Both groups were similar in age, myoma initial size and classification. There were no significant differences between UPA and GnRHa treated groups in terms of percentage of myomas resected (93% vs 98%), duration of surgery (38 vs 37min), fluid deficit (200 vs 350ml) and complications. In the surgeon's subjective opinion, UPA treatment was associated with an easier resection. Based on our experience, previous treatment with UPA does not difficult Hhysteroscopic myomectomy. Endometrial changes have no impact on surgery. Safety and feasibility are comparable to hysteroscopic myomectomies with previous treatment with GnRH analogues. This allows us to take advantage of the reduction in size of fibroids before surgery with less side effects.