8 results on '"Rial JM"'
Search Results
2. Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience.
- Author
-
Araujo-Vilar D, Sánchez-Iglesias S, Guillín-Amarelle C, Castro A, Lage M, Pazos M, Rial JM, Blasco J, Guillén-Navarro E, Domingo-Jiménez R, del Campo MR, González-Méndez B, and Casanueva FF
- Subjects
- Adolescent, Adult, Child, Child, Preschool, Fatty Liver etiology, Female, Follow-Up Studies, Humans, Hypertriglyceridemia etiology, Leptin administration & dosage, Leptin pharmacology, Lipodystrophy, Congenital Generalized complications, Lipodystrophy, Familial Partial complications, Male, Spain, Treatment Outcome, Young Adult, Fatty Liver drug therapy, Hypertriglyceridemia drug therapy, Leptin analogs & derivatives, Lipodystrophy, Congenital Generalized drug therapy, Lipodystrophy, Familial Partial drug therapy
- Abstract
Lipodystrophies are a group of diseases mainly characterized by a loss of adipose tissue and frequently associated with insulin resistance, hypertriglyceridemia, and hepatic steatosis. In uncommon lipodystrophies, these complications frequently are difficult to control with conventional therapeutic approaches. This retrospective study addressed the effectiveness of recombinant methionyl leptin (metreleptin) for improving glucose metabolism, lipid profile, and hepatic steatosis in patients with genetic lipodystrophic syndromes. We studied nine patients (five females and four males) with genetic lipodystrophies [seven with Berardinelli-Seip syndrome, one with atypical progeroid syndrome, and one with type 2 familial partial lipodystrophy (FPLD)]. Six patients were children under age 9 years, and all patients had baseline triglycerides levels >2.26 mmol/L and hepatic steatosis; six had poorly controlled diabetes mellitus. Metreleptin was self-administered subcutaneously daily at a final dose that ranged between 0.05 and 0.24 mg/(kg day) [median: 0.08 mg/(kg day)] according to the body weight. The duration of treatment ranged from 9 months to 5 years, 9 months (median: 3 years). Plasma glucose, hemoglobin A1c (Hb A1c), lipid profile, plasma insulin and leptin, and hepatic enzymes were evaluated at baseline and at least every 6 months. Except for the patient with FPLD, metreleptin replacement significantly improved metabolic control (Hb A1c: from 10.4 to 7.1 %, p < 0.05). Plasma triglycerides were reduced 76 % on average, and hepatic enzymes decreased more than 65 %. This study extends knowledge about metreleptin replacement in genetic lipodystrophies, bearing out its effectiveness for long periods of time.
- Published
- 2015
- Full Text
- View/download PDF
3. [Follow-up of the small-for-gestational-age child: clinical guidelines].
- Author
-
López ID, Muñoz Ade A, Muñoz JB, Rodríguez PC, Gómez EG, Ollero MJ, Rodríguez JM, Dehlia AC, Estrada RC, and Toda LI
- Subjects
- Child Development, Follow-Up Studies, Humans, Infant, Newborn, Risk Factors, Infant, Newborn, Diseases diagnosis, Infant, Newborn, Diseases therapy, Infant, Small for Gestational Age
- Abstract
Introduction: In this document the Small for Gestational Age (SGA) Child Working Group of the Spanish Society for Paediatric Endocrinology proposes the guidelines for the management and follow-up of SGA children, highlighting the potential morbidity arising from the SGA condition and its consequences in adulthood., Material and Methods: There is currently a wide variability in the management of the SGA child between health centres and health professionals. The diagnostic criteria for SGA according to the last international consensus guidelines are defined, which also include preterm SGA patients but excluding those patients in whom low birthweigh is associated with specific syndromes. We also outline the potential abnormalities associated with the SGA condition and recommend specific therapeutic and preventative measures., Conclusions: Low birth weight remains a major cause of morbidity in childhood and is associated with an increased risk of health problems later in life. Childhood is a critical window during which some of the risk factors accounting for this sequence are potentially reversible, with healthy lifestyle measures and environmental intervention. Accordingly, these guidelines should be useful not only for Primary Care Paediatricians but also for Neonatologists, Paediatric Endocrinologists, Neuropaediatricians and Pediatric Gastroenterologists, and also for the parents., (Copyright © 2011 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.)
- Published
- 2012
- Full Text
- View/download PDF
4. Effect of recombinant growth hormone on leptin, adiponectin, resistin, interleukin-6, tumor necrosis factor-α and ghrelin levels in growth hormone-deficient children.
- Author
-
López-Siguero JP, López-Canti LF, Espino R, Caro E, Fernández-García JM, Gutiérrez-Macías A, Rial JM, Lechuga JL, Macías F, Martínez-Aedo MJ, Rico S, Rodríguez I, Guillén J, Arroyo FJ, Bernal S, Espigares R, Núñez M, Escribano A, Barrionuevo JL, Gentil J, Barrios V, Fernández-Nistal A, Martos-Moreno GA, Martínez V, and Argente J
- Subjects
- Anthropometry, Blood Glucose metabolism, Body Mass Index, Carbohydrate Metabolism drug effects, Child, Growth Hormone pharmacology, Humans, Prospective Studies, Receptors, Leptin metabolism, Adiponectin blood, Ghrelin blood, Growth Hormone administration & dosage, Human Growth Hormone deficiency, Interleukin-6 blood, Leptin blood, Resistin blood, Tumor Necrosis Factor-alpha blood
- Abstract
Background: Treatment with GH promotes linear growth and decreases body fat in patients with isolated GH deficiency (GHD). However, few studies have analyzed how GH replacement modifies ghrelin levels and the adipokine profile and the relationship of these modifications with the metabolic changes., Aims: To analyze the eventual differences between serum levels of leptin, leptin soluble receptor (sOBR), resistin, adiponectin, interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), total (TG) and acylated ghrelin (AG) and lipid and glycemic profiles in children with GHD, as well as to determine the effect of GH replacement on these parameters during the first year of therapy., Subjects and Methods: Thirty pre-pubertal (Tanner stage I) GHD children and 30 matched controls were enrolled. Children with GHD were studied before and after 6 and 12 months of GH treatment. Weight, height, BMI, fasting glucose, insulin, lipid profile and serum levels of adipokines and ghrelin were studied at every visit. Adi - pokines, insulin and ghrelin levels were determined by using commercial radio- and enzymoimmunoassays., Results: At baseline children with GHD had significantly higher sOBR (p<0.01) and adiponectin (p<0.01) levels than controls. Treatment with GH resulted in a decline in leptin (p<0.05) and TG (p<0.001) levels, an increase of homeostasis model assessment index and restored IGF-I levels (p<0.001)., Conclusions: These data indicate that GH replacement has a negative effect on leptin levels and may also produce a slight unfavorable effect on carbohydrate metabolism. In addition, the changes observed in the adipokine profile appear to be independent of body mass index.
- Published
- 2011
- Full Text
- View/download PDF
5. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.
- Author
-
Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, del Castillo G, Deeb A, Deiss D, Fernandez JM, Godbole K, Hussain K, O'Connell M, Klupa T, Kolouskova S, Mohsin F, Perlman K, Sumnik Z, Rial JM, Ugarte E, Vasanthi T, Johnstone K, Flanagan SE, Martínez R, Castaño C, Patch AM, Fernández-Rebollo E, Raile K, Morgan N, Harries LW, Castaño L, Ellard S, Ferrer J, Perez de Nanclares G, and Hattersley AT
- Subjects
- DNA Mutational Analysis, DNA Primers genetics, Gene Dosage, Genes, Recessive genetics, Humans, Infant, Newborn, Insulin genetics, Male, Oligonucleotide Probes, Diabetes Mellitus genetics, Insulin biosynthesis, Mutation genetics, Protein Precursors genetics
- Abstract
Heterozygous coding mutations in the INS gene that encodes preproinsulin were recently shown to be an important cause of permanent neonatal diabetes. These dominantly acting mutations prevent normal folding of proinsulin, which leads to beta-cell death through endoplasmic reticulum stress and apoptosis. We now report 10 different recessive INS mutations in 15 probands with neonatal diabetes. Functional studies showed that recessive mutations resulted in diabetes because of decreased insulin biosynthesis through distinct mechanisms, including gene deletion, lack of the translation initiation signal, and altered mRNA stability because of the disruption of a polyadenylation signal. A subset of recessive mutations caused abnormal INS transcription, including the deletion of the C1 and E1 cis regulatory elements, or three different single base-pair substitutions in a CC dinucleotide sequence located between E1 and A1 elements. In keeping with an earlier and more severe beta-cell defect, patients with recessive INS mutations had a lower birth weight (-3.2 SD score vs. -2.0 SD score) and were diagnosed earlier (median 1 week vs. 10 weeks) compared to those with dominant INS mutations. Mutations in the insulin gene can therefore result in neonatal diabetes as a result of two contrasting pathogenic mechanisms. Moreover, the recessively inherited mutations provide a genetic demonstration of the essential role of multiple sequence elements that regulate the biosynthesis of insulin in man.
- Published
- 2010
- Full Text
- View/download PDF
6. Extra- and intra-articular synovial chondromatosis and malignant transformation to chondrosarcoma.
- Author
-
Díaz-Bertrana C, Durall I, Rial JM, Franch J, Fontecha P, and Ramis A
- Subjects
- Amputation, Surgical veterinary, Animals, Cell Transformation, Neoplastic pathology, Chondrocytes pathology, Chondromatosis diagnostic imaging, Chondromatosis veterinary, Chondromatosis, Synovial diagnostic imaging, Chondromatosis, Synovial veterinary, Chondrosarcoma pathology, Chondrosarcoma surgery, Dogs, Lameness, Animal etiology, Lameness, Animal pathology, Male, Radiography, Stifle diagnostic imaging, Stifle pathology, Synovial Membrane pathology, Chondromatosis pathology, Chondromatosis, Synovial pathology, Chondrosarcoma veterinary
- Abstract
Intra- and extra-articular primary synovial chondromatosis (SC) was observed in a five-year-old, entire male German Shepherd. Thousands of small cartilaginous nodules were removed from the stifle joint as well as from several adjacent muscles. Diagnosis of SC was established based on clinical, radiographic and biopsy results. The owner declined to have a new surgery performed for complete nodule removal and partial synovectomy. Nine months after the initial presentation, a proximal pathological intra- articular tibial fracture was observed and malignant transformation to chondrosarcoma was diagnosed after limb amputation. No metastasis was observed after 1.5 years of follow-up.
- Published
- 2010
- Full Text
- View/download PDF
7. [Guidelines for clinical follow-up and immunoprophylaxis of pregnant carriers of hepatitis B virus and their children].
- Author
-
Mainou C, Rial JM, Alfonso H, Calvet E, Fabrega C, Amat L, and Escofet JM
- Subjects
- Female, Hepatitis B prevention & control, Hepatitis B therapy, Hepatitis B virus immunology, Humans, Immunization, Passive, Immunotherapy, Infant, Newborn, Pregnancy, Viral Vaccines therapeutic use, Carrier State diagnosis, Hepatitis B diagnosis, Pregnancy Complications, Infectious diagnosis
- Published
- 1984
8. [A well-supported fronto-orbital large osteoma].
- Author
-
Riu R, Darleguy P, Rial JM, Blade J, and de Labriolle A
- Subjects
- Female, Humans, Middle Aged, Orbital Neoplasms, Osteoma
- Published
- 1966
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.