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1.
Neuromuscul Disord ; 32(7): 572-574, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35644722

RESUMEN

Several cases of Guillain-Barré Syndrome (GBS) associated with COVID-19 vaccination have been reported, including the rare subtype known as Bilateral Facial Palsy with paresthesias (BFP). To date, it is not known whether a causal relationship may exist between the two. We report 9 cases of BFP in patients vaccinated against COVID-19 in the previous month. Nerve conduction studies revealed demyelinating polyneuropathy in 4 patients, and 5 presented bilateral, focal facial nerve involvement, exclusively. Ganglioside antibody panel was positive in 4 patients (anti-GM1=2, anti-GD1a=1 and anti-sulfatide=1). Seven patients received intravenous immunoglobulin treatment, one plasma exchange, and one patient died from sudden cardiac arrest following arrhythmia before treatment could be administered. Rates of BFP following COVID-19 vaccination, did not differ from those reported in previous series. Epidemiological studies are essential to determine whether a causal relationship may exist between this rare form of GBS and COVID-19 vaccination.


Asunto(s)
Vacunas contra la COVID-19 , Parálisis Facial , Síndrome de Guillain-Barré , Parestesia , COVID-19/prevención & control , Vacunas contra la COVID-19/efectos adversos , Parálisis Facial/diagnóstico , Parálisis Facial/epidemiología , Síndrome de Guillain-Barré/epidemiología , Humanos , Parestesia/diagnóstico , Parestesia/epidemiología
2.
Rev. esp. investig. quir ; 24(3): 109-110, 2021. ilus
Artículo en Inglés | IBECS | ID: ibc-219256

RESUMEN

Introduction. Liposarcoma is the most common tumor type of retroperitoneal soft tissue sarcomas. Case report. A 35 year-old male with a history of smoking with hypogastric abdominal pain, abdominal fullness, constipation and weight-loss for several months. Physical examination revealed abdominal distension, increased abdominal collateral circulation and a left subcostal mass. Abdominal and pelvic CT scan showed a large, septated fat tumor measuring approximately 30cm x 31cm x 41cm in size. It was decided to perform a resection of the tumoral mass, the para-aortic adenopathy and the infiltrating component of the arterial axis plus a left nephrectomy. During the operation, we observed infiltration of the left CIA which required a block resection of the left CIA, followed by a CIA to left external iliac artery terminal-terminal (T-T) bypass using a 8mm Polyethylene Terephthalate prosthesis, internaliliac artery ligation and venous axis ligation. (AU)


Asunto(s)
Humanos , Masculino , Adulto , Liposarcoma/diagnóstico , Liposarcoma/cirugía , Arteria Ilíaca , Neoplasias , Patología , Enfermedades Vasculares , Oncología Quirúrgica
3.
J. physiol. biochem ; 65(4): 405-413, dic. 2009.
Artículo en Inglés | IBECS | ID: ibc-122863

RESUMEN

No disponible


During the last decades, the prevalence of obesity has increased rapidly among young people. A polymorphism in the promoter region of the IL6 gene (-174G/C), has been previously reported to be involved in obesity and metabolic syndrome development. Therefore, the aim of the study was to examine whether the IL6-174G/C polymorphism influence the association of body fat with low-grade inflammatory markers and blood lipids and lipoproteins in Spanish adolescents. 504 Spanish adolescents participating in the AVENA study were genotyped for the-174G/C polymorphism of the IL6 gene. Anthropometric and body composition measurements were taken and blood samples were collected for plasma molecules determinations. No differences between genotypes were observed in anthropometric values, body composition measurements and plasma markers concentration. Physical activity level differ between genotypes with subjects carrying the C allele of the polymorphism being significantly (p<0.05) more active than GG subjects. The association between body fat mass and plasma glucose was influenced by the -174G/C polymorphism of the IL6 gene. Subjects carrying the C allele of the mutation seem to have higher values of lipoprotein (a) and C-reactive protein as their percentage of body fat mass increase. Our results suggest that this promoter polymorphism influences the association between adiposity and some plasma markers (AU)


Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Polimorfismo Genético , Obesidad/genética , Enfermedades Cardiovasculares/epidemiología , Síndrome Metabólico/genética , Factores de Riesgo , Marcadores Genéticos , Tejido Adiposo/fisiopatología
5.
J Physiol Biochem ; 65(4): 405-13, 2009 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-20358354

RESUMEN

During the last decades, the prevalence of obesity has increased rapidly among young people. A polymorphism in the promoter region of the IL6 gene (-174G/C), has been previously reported to be involved in obesity and metabolic syndrome development. Therefore, the aim of the study was to examine whether the IL6-174G/C polymorphism influence the association of body fat with low-grade inflammatory markers and blood lipids and lipoproteins in Spanish adolescents. 504 Spanish adolescents participating in the AVENA study were genotyped for the-174G/C polymorphism of the IL6 gene. Anthropometric and body composition measurements were taken and blood samples were collected for plasma molecules determinations. No differences between genotypes were observed in anthropometric values, body composition measurements and plasma markers concentration. Physical activity level differ between genotypes with subjects carrying the C allele of the polymorphism being significantly (p<0.05) more active than GG subjects. The association between body fat mass and plasma glucose was influenced by the -174G/C polymorphism of the IL6 gene. Subjects carrying the C allele of the mutation seem to have higher values of lipoprotein (a) and C-reactive protein as their percentage of body fat mass increase. Our results suggest that this promoter polymorphism influences the association between adiposity and some plasma markers.


Asunto(s)
Tejido Adiposo/patología , Enfermedades Cardiovasculares/genética , Predisposición Genética a la Enfermedad , Interleucina-6/genética , Polimorfismo Genético , Regiones Promotoras Genéticas , Adolescente , Factores de Edad , Glucemia/metabolismo , Proteína C-Reactiva/metabolismo , Enfermedades Cardiovasculares/diagnóstico , Femenino , Genotipo , Humanos , Lípidos/química , Factores de Riesgo
6.
Neuropediatrics ; 39(6): 351-3, 2008 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-19569001

RESUMEN

We followed up a patient born preterm with congenital thyrotoxicosis by observing her general movements (GMs) in accordance with Prechtl's method. Initially a chaotic pattern was observed. Along with the normalization of thyroid hormones, the GM pattern changed to a poor repertoire at four weeks of life, full-blown writhing movements at six weeks and fidgety movements at the age of four months. This is the first report of chaotic GMs in a neonate reflecting transient neurological dysfunction related to congenital thyrotoxicosis, with subsequent normal neurological and cognitive outcome.


Asunto(s)
Enfermedades del Prematuro/diagnóstico , Trastornos del Movimiento/diagnóstico , Examen Neurológico , Tirotoxicosis/congénito , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Tiroiditis Autoinmune/diagnóstico , Tirotoxicosis/diagnóstico
7.
Clin Endocrinol (Oxf) ; 66(5): 652-8, 2007 May.
Artículo en Inglés | MEDLINE | ID: mdl-17492953

RESUMEN

OBJECTIVE: The melanocortin 4 receptor gene (MC4R) is involved in body weight regulation. While many studies associated MC4R mutations with childhood obesity, information on MC4R mutations in Spanish children and adolescents is lacking. Our objective was to screen a population of children and adolescents from the north of Spain (Navarra) for MC4R mutations and to study the phenotypes of carriers and their families. In addition, functional assays were performed for a novel MC4R mutation. METHODS: The study was composed of 451 Spanish children and adolescents (49% boys), aged 5-18 year. According to the International Obesity Task Force (IOTF) criteria, the groups included 160 obese, 132 overweight and 159 normal-weight control subjects. RESULTS: One novel (Thr162Arg) and three known nonsynonymous mutations in the MC4R gene (Ser30Phe, Thr150Ile, Ala244Glu) were detected heterozygously. The MC4R mutations were found in three male (one obese and two overweight) and two female subjects (one obese and one overweight). The novel mutation did not appear to lead to an impaired receptor function. An unequivocal relationship of MC4R mutations with obesity in pedigrees together with an impaired function of the encoded receptor could not be established for any of the mutations. CONCLUSIONS: The presence of heterozygous MC4R mutations in obese and overweight subjects indicates that these mutations may be a susceptibility factor for obesity development, but lifestyle factors, such as exercise or sedentary activities, may modify their effect.


Asunto(s)
Mutación , Obesidad/genética , Receptor de Melanocortina Tipo 4/genética , Adolescente , Animales , Células COS , Estudios de Casos y Controles , Membrana Celular/química , Niño , Preescolar , Chlorocebus aethiops , AMP Cíclico/metabolismo , Femenino , Genotipo , Humanos , Masculino , Sobrepeso/genética , Linaje , Fenotipo , Receptor de Melanocortina Tipo 4/análisis , Receptor de Melanocortina Tipo 4/metabolismo , España , Transfección/métodos
8.
Acta pediatr. esp ; 64(10): 514-517, nov. 2006. ilus
Artículo en En | IBECS | ID: ibc-050015

RESUMEN

Describimos el caso clínico de un niño de 9 años y medio afecto de periodontitis e hiperqueratosis desde los 5 años de edad. Queremos destacar la afectación generalizada de toda la dentición, las alteraciones inmunológicas encontradas y la discreta afectación dermatológica, siendo el cuadro estomatológico el que identifica en su mayor parte la enfermedad. El tratamiento precoz con acitretino puede mejorar tanto la evolución de las lesiones dérmicas como de la periodontitis


We report the case of a nine-and-a-half-year-old boy who had had periodontitis and hyperkeratosis since the age of five. We describe the involvement of the entire dentition, the associated immunological disorders, and the discrete cutaneous findings. This disease is chiefly identified by its stomatologic features. Early treatment with acitretin can improve the outcome of both the skin lesions and the periodontitis


Asunto(s)
Masculino , Niño , Humanos , Enfermedad de Papillon-Lefevre/diagnóstico , Acitretina/uso terapéutico , Enfermedades de la Piel/etiología , Levamisol/uso terapéutico , Enfermedad de Papillon-Lefevre/tratamiento farmacológico
10.
Angiología ; 57(6): 503-511, nov.-dic. 2005. ilus, tab
Artículo en Es | IBECS | ID: ibc-042074

RESUMEN

Objetivo. Describir las vías de abordaje alternativas a la arteria poplítea (AP) y a su trifurcación, con exclusión de las vías medial y posterior, consideradas clásicas. Detallar qué ventajas e inconvenientes tienen y cuáles son sus indicaciones más importantes. Desarrollo y conclusiones. Las vías alternativas comprenden la vía lateral supra o infragenicular con o sin resección del peroné, la vía medial total y la vía medial de la arteria tibial anterior (ATA) proximal. Se utilizan poco en general, ya que por técnicas endovasculares o por vía media y posterior somos capaces de resolver la mayoría de las situaciones. Las indicaciones más importantes de abordaje por vía lateral de la AP serían la infección, la radioterapia, las reintervenciones o extensas cicatrices en la cara medial. La necesidad de explorar la segunda porción de AP indicaría la vía medial total, y las indicaciones para la vía media de la ATA proximal serían la escasa longitud del injerto, bypass secuenciales e infección del compartimiento tibial anterior. Como inconvenientes principales destacan la posible lesión del nervio peroneo común, inestabilidades de la rodilla y el menor conocimiento de estas técnicas alternativas


Aims. The aim of this study was to describe the surgical approaches that can be used as alternatives to the popliteal artery (PA) and to its trifurcation, excluding the medial and posterior paths, which are considered to be classical procedures. It also outlines the advantages and disadvantages of each approach and their most important indications. Results and conclusions. The alternative paths include the above- or below-the-knee lateral path with or without resection of the fibula, the total medial path and the medial path of the proximal anterior tibial artery (ATA). They are not generally used very often because most situations can be resolved by means of endovascular techniques or by medial and posterior approaches. The most important indications for a lateral approach to the PA would be infection, radiotherapy, re-interventions or extensive scarring on the medial side. The need to examine the second part of the PA would indicate the total medial path and indications for the medial path of the proximal ATA would be an insufficient length of the graft, sequential bypasses and infection of the anterior tibial compartment. The most notable disadvantages include possible injury to the common peroneal nerve, instability of the knee and the fact that less is known about these alternative techniques


Asunto(s)
Humanos , Arteria Poplítea/cirugía , Procedimientos Quirúrgicos Vasculares/métodos , Arteria Poplítea/anatomía & histología
11.
J Pediatr Endocrinol Metab ; 18(7): 663-70, 2005 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-16128243

RESUMEN

AIM: To determine both the incidence and aetiology of chronic hypoglycaemia in symptomatic children with Russell-Silver syndrome (RSS) during the first four years of life. STUDY DESIGN: Twenty-four children with RSS under the age of 4 years, who had either clinical symptoms of hypoglycaemia or previous evidence of biochemically documented hypoglycaemia, were admitted to hospital for 48 hours to perform a 24-h cortisol/glucose profile and a diagnostic fast in those who did not develop spontaneous hypoglycaemia. A dietary assessment was also performed. Glucose profile was assessed in 20 children and cortisol profile in 16; combined glucose and cortisol profile in 15 children. Eight children had a diagnostic fast. Mean chronological age at time of assessment was 2.2 +/- 0.8 years (range 1.1-3.9 years). RESULTS: Ten of 24 children had previously been documented as having hypoglycaemia. Seven of 12 patients were growth hormone (GH) insufficient after a glucagon test. Their feeding pattern was described as 'poor and picky eaters' in all, seven requiring nasogastric tube feeding. The mean spontaneous energy intake (n = 8) was 56 +/- 19.6 kcal/kg/day (range 38-90). Nocturnal sweating was the commonest symptom (23.96%), followed by irritability (11.46%), tantrums (7.29%), pallor and shakiness (3.13%). The glucose profile in seven children showed hypoglycaemia but only four were symptomatic. None of the children was cortisol deficient. The mean period of fasting was 11.8 +/- 4 hours (range 3-18 h). No metabolic/hormonal abnormality, with the exception of GH insufficiency, was detected at the time of hypoglycaemia. CONCLUSION: Children with RSS are prone to develop spontaneous hypoglycaemia especially if they are not fed both frequently and regularly. The most likely explanation is accelerated starvation and/or GH insufficiency. We suggest guidelines to minimise hypoglycaemia in these children.


Asunto(s)
Trastornos del Crecimiento/complicaciones , Trastornos del Crecimiento/epidemiología , Hipoglucemia/epidemiología , Hipoglucemia/etiología , Apetito , Preescolar , Ingestión de Alimentos , Hormona de Crecimiento Humana/deficiencia , Humanos , Incidencia , Lactante , Inanición/complicaciones , Inanición/epidemiología
12.
Nutr Neurosci ; 8(4): 207-11, 2005 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-16491645

RESUMEN

Serotonin has been related to feeding behaviour and body weight control through its suppressive effect on appetite. Conflicting results have been published in the literature regarding the association between the - 1438 G/A promoter polymorphism of the 5HT2A gene with obesity-related variables. The aim of this study was to assess the association between the--1438 G/A polymorphism of the 5HT2A gene with childhood obesity in a Spanish population. A total of 136 cases aged 6-16 years with BMI above the 97th percentile of the Spanish BMI reference data for age and gender were matched by gender and age (+/- 6 months) with 136 controls. Additionally, 43 obese children and their parents were selected for a family-based association study (case-parent study). Genotyping was carried out by polymerase chain reaction and restriction enzyme analysis. Conditional logistic regression and transmission/disequilibrium test were used to assess genotype-obesity association. In the matched case-control study, the crude and adjusted odds ratios for the association between 5HT2A--1438 G/A genotypes were nonsignificant. Likewise, no association is suggested by the case-parent study. In conclusion, it is unlikely that the--1438 G/A polymorphism of 5HT2A gene may influence obesity in a Spanish children population.


Asunto(s)
Obesidad/genética , Polimorfismo Genético/genética , Regiones Promotoras Genéticas/genética , Receptor de Serotonina 5-HT2A/genética , Alelos , Índice de Masa Corporal , Estudios de Casos y Controles , Niño , Femenino , Heterocigoto , Humanos , Masculino , España
13.
Int J Obes Relat Metab Disord ; 28 Suppl 3: S37-41, 2004 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-15543217

RESUMEN

AIMS: Multiple genes are likely to be involved in obesity and these genes may interact with environmental factors to influence obesity risk. Our aim was to explore the synergistic contribution of the two polymorphisms: Pro12Ala of the PPAR gamma 2 gene and Trp64Arg of the ADR beta 3 gene to obesity risk in a Spanish children and adolescent population. METHODS: We designed a sex- and age-matched case-control study. Participants were 185 obese and 185 control children (aged 5-18 y) from the Navarra region, recruited through Departments of Pediatrics (Hospital Virgen del Camino, Navarra University Clinic and several Primary Health Centers). The obesity criterion (case definition) was BMI above the 97th percentile according to Spanish BMI reference data for age and gender. Anthropometric parameters were measured by standard protocols. The genotype was assessed by PCR-RFLP after digestion with BstUI for PPAR gamma 2 mutation and BstNI for ADR beta 3 variants. Face-to-face interviews were conducted to assess the physical activity. Using a validated physical activity questionnaire, we computed an activity metabolic equivalent index (METs h/week), which represents the physical exercise during the week for each participant. Statistical analysis was performed by conditional logistic regression, taking into account the matching between cases and controls. RESULTS: Carriers of the polymorphism Pro12Ala of the PPAR gamma 2 gene had a significantly higher obesity risk than noncarriers (odds ratio (OR)=2.18, 95% CI=1.09-4.36) when we adjusted for sex, age and physical activity. Moreover, the risk of obesity was higher (OR=2.59, 95% CI=1.17-5.34) when family history of obesity was also taken into account in the model. The OR for obesity linked to both polymorphisms (PPAR gamma 2 and ADR beta 3) was 5.30 (95% CI=1.08-25.97) when we adjusted for sex, age and physical activity. After adjustment for family history of obesity, the OR for carriers of both polymorphisms was 19.5 (95% CI=2.43-146.8). CONCLUSIONS: A synergistic effect between polymorphism Pro12Ala of the PPAR gamma 2 gene and Trp64Arg of the ADR beta 3 gene for obesity risk was found in a case-control study including children and adolescents.


Asunto(s)
Obesidad/genética , PPAR gamma/genética , Polimorfismo Genético , Receptores Adrenérgicos beta 3/genética , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Expresión Génica , Predisposición Genética a la Enfermedad , Humanos , Oportunidad Relativa
14.
Angiología ; 56(1): 67-74, ene. 2004. ilus
Artículo en Es | IBECS | ID: ibc-30526

RESUMEN

Introducción. En nuestro país, los traumatismos vasculares en los miembros inferiores (MMII) suponen un 38 por ciento de todos los traumatismos vasculares. Frecuentemente, los causados por armas de fuego producen fístulas arteriovenosas asociadas o no a pseudoaneurismas. A la técnica quirúrgica convencional de reparación de la fístula mediante disección cuidadosa, ligadura y reparación de la arteria y la vena se han sumado otras opciones de la mano de las técnicas endovasculares. Caso clínico. Varón de 21 años remitido al Servicio de Urgencias por una herida por arma de fuego en el muslo derecho, sin signos de inestabilidad hemodinámica ni de hemorragia externa; en la exploración presentaba ausencia de pulsos poplíteo y distales, palidez y frialdad del pie y soplo en el tercio medio del muslo derecho. Al sospechar una lesión en la arteria femoral superficial, se realizó una arteriografía de urgencia, en la que se diagnóstico de fístula arteriovenosa. Al paciente se le intervino de forma urgente y se le colocó una endoprótesis recubierta de 8 × 50 mm en la lesión de la arteria femoral superficial. La evolución durante el posoperatorio fue satisfactoria, y el paciente recuperó los pulsos distales, con una correcta perfusión de la extremidad, sin déficit neurológico ni lesión venosa asociada. Conclusión. Las técnicas endovasculares pueden suponer una alternativa de reparación en el traumatismo vascular más segura y sencilla en casos seleccionados, pero la ausencia de series largas y protocolos adecuados de actuación aconseja ser prudentes en sus indicaciones. No obstante, es una opción más para el cirujano, y el tiempo y los estudios decidirán qué papel desempeñarán en el futuro (AU)


Asunto(s)
Adulto , Masculino , Humanos , Heridas por Arma de Fuego/complicaciones , Heridas por Arma de Fuego/diagnóstico , Heridas por Arma de Fuego/cirugía , Arteria Femoral/cirugía , Arteria Femoral/patología , Fístula Arteriovenosa/complicaciones , Fístula Arteriovenosa/diagnóstico , Angiografía , Angiografía/métodos , Estudios Prospectivos , Muestreo Aleatorio Simple , Protocolos Clínicos , Hiperplasia/complicaciones , Hiperplasia/diagnóstico
15.
An. sist. sanit. Navar ; 25(supl.1): 127-141, ene. 2002.
Artículo en Es | IBECS | ID: ibc-22778

RESUMEN

La obesidad en la infancia y en la adolescencia es cada día un motivo de consulta más frecuente. El aumento en la prevalencia de esta enfermedad, que ha sido considerada como una epidemia por la organización mundial de la salud, es preocupante. La obesidad es una enfermedad compleja, cuya etiología está todavía por esclarecer debido a los múltiples factores implicados: ambientales, genéticos, conductuales y de estilo de vida, neuroendocrinos y metabólicos. La persistencia de la obesidad infantil hasta la edad adulta aumenta significativamente el riesgo de padecer diabetes mellitus, enfermedad cardiovascular, hipertensión, colecistitis y colelitiasis. El tratamiento de la obesidad es complicado y son pocos los pacientes que acuden regularmente a las consultas de seguimiento. Para realizar un tratamiento adecuado se requiere un equipo multidisciplinar compuesto de pediatras, dietistas, enfermeras, psicólogos y psiquiatras. El tratamiento con éxito de la obesidad reside en la disminución de la ingesta calórica en relación con el gasto energético, enseñando a la vez hábitos de alimentación y de estilo de vida apropiados que promuevan a largo plazo el mantenimiento del peso ideal. (AU)


Asunto(s)
Adolescente , Niño , Humanos , Obesidad/epidemiología , Prevalencia , Obesidad/complicaciones , Obesidad/etiología , Estilo de Vida , Ingestión de Energía , Conducta Alimentaria
16.
An Sist Sanit Navar ; 25 Suppl 1: 127-41, 2002.
Artículo en Español | MEDLINE | ID: mdl-12861277

RESUMEN

Obesity during childhood and adolescence is an increasingly frequent cause for medical consultation. The increase in the prevalence of this disease, which has been considered as an epidemic by the World Health Organisation, is worrying. Obesity is a complex disease, whose aetiology still remains to be clarified due to the numerous factors involved: environmental, genetic, life style and behavioural, neuroendocrinological and metabolic. The persistence of childhood obesity until adulthood significantly increases the risk of suffering from diabetes mellitus, cardiovascular disease, hypertension, cholecystitis and cholelithiasis. Treatment of obesity is complicated and few patients regularly attend follow up examinations. A multidisciplinary team is required to carry out a suitable treatment, composed of paediatricians, dieticians, nurses, psychologists and psychiatrists. Successful treatment of obesity resides in reducing the calorie intake in relation to energy expenditure, and at the time providing instruction in appropriate eating habits and life styles that in the long term will promote the maintenance of the ideal weight.

17.
Clin Endocrinol (Oxf) ; 55(2): 163-74, 2001 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-11531922

RESUMEN

OBJECTIVE: The association of idiopathic hypogonadotrophic hypogonadism (IHH) with congenital olfactory deficit defines Kallmann's syndrome (KS). Although a small proportion of IHH patients have been found to harbour defined genetic lesions, the genetic basis of most IHH cases remains to be elucidated. Genes currently recognized to be involved comprise KAL (associated with X-linked-KS), the GnRH receptor (associated with resistance to GnRH therapy), DAX 1 (associated with adrenohypoplasia congenita) and three loci also associated with obesity, leptin (OB), leptin receptor (DB) and prohormone convertase (PC1). Because of the rarity of the condition and the observation that patients are almost universally infertile without assistance, familial transmission of IHH is encountered infrequently and pedigrees tend to be small. This has constrained the ability of conventional linkage studies to identify other candidate loci for genetic IHH. We hypothesized that a systematic clinical evaluation of a large patient sample might provide new insights into the genetics of this rare disorder. Specifically, we wished to examine the following propositions. First, whether normosmic (nIHH) and anosmic (KS) forms of IHH were likely to be genetically discrete entities, on the basis of quantitative olfactory testing, analysis of autosomal pedigrees and the prevalence of developmental defects such as cryptorchidism and cleft palate. Second, whether mirror movements and/or unilateral renal agenesis were specific phenotypic markers for X-linked-KS. DESIGN AND PATIENTS: We conducted a clinical study of 170 male and 45 female IHH patients attending the endocrinology departments of three London University teaching hospitals. Approximately 80% of data were obtained from case records and 20% collected prospectively. Parameters assessed included olfaction, testicular volume, family history of hypogonadism, anosmia or pubertal delay, and history or presence of testicular maldescent, neurological, renal or craniofacial anomalies. Where possible, the clinical information was correlated with published data on genetic analysis of the KAL locus. RESULTS: Olfactory acuity was bimodally distributed with no evidence for a spectrum of olfactory deficit. Testicular volume, a marker of integrated gonadotrophin secretion, did not differ significantly between anosmic and normosmic patients, at 2.0 ml and 2.2 ml, respectively. Nevertheless, the prevalence of cryptorchidism was nearly three times greater in anosmic (70.3%, of which 75.0% bilateral) than in normosmic (23.2%, of which 43.8% bilateral) patients. Individuals with nIHH, eugonadal isolated anosmia and/or KS were observed to coexist within 6/13 autosomal IHH pedigrees. On three occasions, fertility treatment given to an IHH patient had resulted in the condition being transmitted to the resulting offspring. Mirror movements and unilateral renal agenesis were observed in 24/98 and 9/87 IHH patients, respectively, all of whom were identifiable as X-KS males on the basis of pedigree analysis and/or defective KAL coding sequence. Abnormalities of eye movement and unilateral sensorineural deafness were observed in 10/21 and 6/111 KS patients, respectively, but not in nIHH patients. DISCUSSION: Patients with IHH are almost invariably either anosmic (KS) or normosmic (nIHH), rather than exhibiting intermediate degrees of olfactory deficit. Moreover, the prevalence of cryptorchidism is nearly three times greater in KS than in nIHH despite comparable testicular volumes, suggesting a primary defect of testicular descent in KS independent of gonadotrophin deficiency. Disorders of eye movement and hearing appear only to occur in association with KS. Taken together, these findings indicate a clear phenotypic separation between KS and nIHH. However, pedigree studies suggest that autosomal KS is an heterogeneous condition, with incomplete phenotypic penetrance within pedigrees, and that some cases of autosomal KS, nIHH and even isolated anosmia are likely to have a common genetic basis. The prevalences of anosmia, mirror movements and unilateral renal agenesis among X-KS men are estimated to be 100, 85 and 31%, respectively. In sporadic IHH, mirror movements and unilateral renal agenesis are 100% specific phenotypic markers of de novo X-KS. By comparison, only 7/10 X-KS families harboured KAL coding defects. Clinical ascertainment, using mirror movements, renal agenesis and ichthyosis as X-KS-specific phenotypic markers, suggested that de novo X-KS was unlikely to comprise more than 11% of sporadic cases. The majority of sporadic KS cases are therefore presumed to have an autosomal basis and, hence, the preponderance of affected KS males over females remains unexplained, though reduced penetrance in women would be a possibility.


Asunto(s)
Proteínas de la Matriz Extracelular , Gonadotropinas/deficiencia , Hipogonadismo/genética , Adolescente , Adulto , Anomalías Craneofaciales/genética , Discinesias/genética , Femenino , Ligamiento Genético , Gonadotropinas/genética , Humanos , Síndrome de Kallmann/genética , Riñón/anomalías , Masculino , Proteínas del Tejido Nervioso/genética , Trastornos del Olfato/genética , Linaje , Fenotipo , Estudios Prospectivos , Estudios Retrospectivos , Cromosoma X
18.
Rev. Med. Univ. Navarra ; 44(4): 29-44, oct. 2000.
Artículo en Es | IBECS | ID: ibc-26011

RESUMEN

La obesidad en la infancia y en la adolescencia es cada día un motivo de consulta mas frecuente. El aumento en la prevaenca de esta enfermedad, que ha sido considerada como una epidemia por la organización mundial de la salud es preocupante. La obesidad es una enfermedad compleja, cuya etiología está todavía por esclarecer debido a los múltiples factores implicados: ambientales, genéticos, conductuales y de estilo de vida, neuroendocrinos y metabólicos. La persistencia de la obesidad infantil hasta la edad adulta aumenta significativamente el riesgo de padecer diabetes mellitus, enfermedad cardiovascular, hipertensión, colecistitis y colelitiasis. El tratamiento de la obesidad es complicado y son pocos los pacientes que acuden regularmente a las consultas de seguimiento. Para realizar un tratamiento adecuado se requiere un equipo multidisciplinar compuesto de pediatras, dietistas, enfermeras, psicólogos y psiquiatras. El tratamiento con éxito de la obesidad reside en la disminución de la ingesta calórica en relación con el gasto energético, enseñando a la vez hábitos de alimentación y de estilo de vida apropiados que promuevan a largo plazo el mantenimiento del peso ideal (AU)


Asunto(s)
Niño , Humanos , Obesidad , Prevalencia
20.
Rev Med Univ Navarra ; 44(4): 29-44, 2000.
Artículo en Español | MEDLINE | ID: mdl-11341054

RESUMEN

Obesity during childhood and adolescence is an increasingly common complaint in our daily clinical practice. The increase in its prevalence makes paediatrician worry about this disease, which is now considered an epidemic by the World Health Organisation. Obesity is a complex disease. Its aetiology is not yet clear, due to the multiple factors involved: environment, genetics, behaviour, life style, neuroendocrinology and metabolism. Persistent obesity increases the risk of suffering from diabetes, cardiovascular disease, hypertension, and gallbladder disease. The treatment of obesity is problematic and there are few patients who persist on a long term weight reduction programme. A multidisciplinary approach is therefore required. Paediatricians, dieticians, nurses, psychologists and psychiatrist should intervene in the treatment programme. Dietary changes must combine a decrease in energy intake and an increase in energy expenditure, inculcating both healthy eating habits and lifestyle without interfering in the child's growth and development.


Asunto(s)
Obesidad , Niño , Humanos , Obesidad/complicaciones , Obesidad/diagnóstico , Obesidad/epidemiología , Obesidad/etiología , Obesidad/terapia , Prevalencia
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