Search results for "growth"

showing 10 items of 5134 documents

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort…

2015

Background The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the KANSL1 gene. To date, about 60 subjects with chromosome deletion and 4 subjects with point mutation in KANSL1 have been reported. Prevalence of chromosome deletions compared with point mutations, genotype–phenotype correlations and phenotypic variability have yet to be fully clarified. Methods We report genotype–phenotype correlations in 27 novel subjects with 17q21.31 deletion and in 5 subjects with KANSL1 point mutation , 3 of whom were not previously reported. Results The prevalence of chromosome deletion and KANSL1 mutation was 83% and 17%, respectively. All patient…

AdultMalemedicine.medical_specialtyAdolescentgenotype-phenotype correlationsKoolen De Vries syndromeKANSL1 mutationHaploinsufficiencyBiologySettore MED/03 - GENETICA MEDICASeverity of Illness IndexCraniofacial AbnormalitiesYoung AdultSeizuresMolecular geneticsGeneticsmedicineHumansAbnormalities MultipleLanguage Development DisordersChildGenetics (clinical)Genetic Association StudiesGeneticsOptic nerve hypoplasiaFetal Growth RetardationPoint mutationMacrocephalyInfantNuclear ProteinsSyndromeclinical heterogeneitySmith–Magenis syndromemedicine.diseaseChild PreschoolSpeech delayFemalemedicine.symptomChromosome DeletionSmith-Magenis SyndromeHaploinsufficiencyChromosomes Human Pair 1717q21.31 deletion
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Effects of prolonged hypertrophic resistance training on acute endocrine responses in young and older men.

2015

The present study investigated changes in acute serum hormone responses to a resistance exercise bout following a prolonged period of hypertrophic resistance training in young (YM) and older men (OM). Subjects performed a 5 × 10RM leg press exercise protocol before and after 20 weeks of hypertrophic resistance training. In YM, the acute responses in growth hormone were greater compared with before training (p < .05), and cortisol concentration did not increase after training. Endocrine responses in OM were similar before and after training. Greater acute growth hormone responses after training were associated with larger gains in lean mass in the entire subject group (r = .596, p = .019)…

AdultMalemedicine.medical_specialtyAgingHydrocortisoneSubject groupPhysical Therapy Sports Therapy and RehabilitationGrowth hormoneStatistics NonparametricCohort StudiesInternal medicineEndocrine systemMedicineHumansTestosteroneLeg pressMuscle SkeletalTestosteroneAgedbusiness.industryHuman Growth HormoneRehabilitationResistance trainingAge FactorsResistance TrainingHypertrophyMiddle AgedAdaptation PhysiologicalEndocrinologyLean body massGeriatrics and GerontologybusinessGerontologyBlood Chemical AnalysisHormoneJournal of aging and physical activity
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Effects of heavy-resistance training on hormonal response patterns in younger vs. older men.

1999

To examine the adaptations of the endocrine system to heavy-resistance training in younger vs. older men, two groups of men (30 and 62 yr old) participated in a 10-wk periodized strength-power training program. Blood was obtained before, immediately after, and 5, 15, and 30 min after exercise at rest before and after training and at rest at −3, 0, 6, and 10 wk for analysis of total testosterone, free testosterone, cortisol, growth hormone, lactate, and ACTH analysis. Resting values for insulin-like growth factor (IGF)-I and IGF-binding protein-3 were determined before and after training. A heavy-resistance exercise test was used to evaluate the exercise-induced responses (4 sets of 10-repe…

AdultMalemedicine.medical_specialtyAgingHydrocortisoneWeight LiftingPhysiologyPhysical exerciseSquatAdrenocorticotropic hormoneHematocritAdrenocorticotropic HormonePhysiology (medical)Internal medicinemedicineHumansTestosteroneInsulin-Like Growth Factor IMuscle SkeletalHydrocortisonemedicine.diagnostic_testbusiness.industryHuman Growth HormoneTestosterone (patch)Middle Agedmedicine.diseaseHormonesEndocrinologyInsulin-Like Growth Factor Binding Protein 3HematocritPhysical FitnessSarcopeniaBody CompositionbusinessHormonemedicine.drugJournal of applied physiology (Bethesda, Md. : 1985)
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Acute hormonal responses to submaximal and maximal heavy resistance and explosive exercises in men and women.

2005

The purpose of this study was to examine acute hormonal and neuromuscular responses in men and women to 3 heavy resistance but clearly different exercise protocols: (a) submaximal heavy resistance exercise (SME), (b) maximal heavy resistance exercise (HRE), and (c) maximal explosive resistance exercise (EE). HRE included 5 sets of 10 repetition maximum (10RM) situps, bench press, and bilateral leg extensions (David 210 machine) with a 2-minute recovery between the sets. In SME, the load was 70%, and in EE, the load was 40% from that used in HRE. A significant increase (p , 0.05) in serum growth hormone (GH) was observed after HRE both in men and women, but the increase was greater (p < 0.05…

AdultMalemedicine.medical_specialtyAnabolismWeight LiftingRepetition maximumPhysical Therapy Sports Therapy and RehabilitationBench pressMuscle hypertrophyInternal medicineMaximal strengthmedicineHumansOrthopedics and Sports MedicineTestosteroneMuscle SkeletalExerciseAnalysis of Variancebusiness.industryHuman Growth HormoneResistance trainingSerum growth hormoneGeneral MedicineEndocrinologyLactatesFemalebusinessHormoneJournal of strength and conditioning research
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Relationship between diet and serum anabolic hormone responses to heavy-resistance exercise in men.

2004

Relationship between dietary intake and serum anabolic hormone concentrations of testosterone (T), free testosterone (FT), and growth hormone were examined at rest as well as after the heavy-resistance exercise (HRE) in 8 strength athletes (SA) and 10 physically active non-athletes (NA). In the first part of the study serum basal anabolic hormone concentrations and dietary intake were examined in the total group of subjects. In the second part of the study a subgroup of 5 SA and 5 NA performed the high volume and high intensity HRE. Dietary intake was registered by dietary diaries for 4 days preceding the loading day. Significant correlations were observed between serum basal T and fat (E%:…

AdultMalemedicine.medical_specialtyAnabolismWeight LiftingStrength trainingPhysical Therapy Sports Therapy and RehabilitationPhysical exerciseFollicle-stimulating hormoneBasal (phylogenetics)Internal medicinemedicineHumansOrthopedics and Sports MedicineTestosteroneTestosteronebiologybusiness.industryHuman Growth HormoneDietary FatsDiet RecordsDietEndocrinologybiology.proteinProtein GDietary ProteinsbusinessHormoneInternational journal of sports medicine
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Apomorphine-Induced Growth Hormone Response Is Attenuated by Ethanol but Not Dextromethorphan

2007

Background: Misuse of alcohol drinking is a major health problem. Alcohol decreases spontaneous growth hormone (GH) secretion, but the mechanism is unclear. The aim of this study was to test whether administration of alcohol (study 1) or a N-methyl d-aspartate (NMDA) receptor antagonist (study 2) attenuates the GH response to pharmacological dopaminergic stimulation. Methods: The 2-session repeated measures design was conducted at the endocrine laboratory at the Department of Psychiatry at the Free University Berlin. Twenty healthy Caucasian males aged 35±10 years without a history of alcohol use disorders were tested using the Apomorphine (APO) challenge test. In study 1, we injected APO (…

AdultMalemedicine.medical_specialtyApomorphineMedicine (miscellaneous)PharmacologyToxicologyPlaceboDextromethorphanReceptors N-Methyl-D-Aspartatechemistry.chemical_compoundOral administrationInternal medicinemedicineHumansEthanolEthanolHuman Growth Hormonebusiness.industryDopaminergicCentral Nervous System DepressantsDextromethorphanGrowth hormone secretionApomorphinePsychiatry and Mental healthEndocrinologychemistryArea Under CurveDopamine AgonistsNMDA receptorbusinessmedicine.drugAlcoholism: Clinical and Experimental Research
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Franceschetti Hereditary Recurrent Corneal Erosion

2011

To describe new affected individuals of Franceschetti's original pedigree of hereditary recurrent erosion and to classify a unique entity called Franceschetti corneal dystrophy.Observational case series.Slit-lamp examination of 10 affected individuals was conducted. Biomicroscopic examinations were supplemented by peripheral corneal biopsy in 1 affected patient with corneal haze. Tissue was processed for light and electron microscopy and immunohistochemistry was performed. DNA analysis was carried out in 12 affected and 3 nonaffected family members.All affected individuals suffered from severe ocular pain in the first decade of life, attributable to recurrent corneal erosions. Six adult pat…

AdultMalemedicine.medical_specialtyBiopsyDNA Mutational AnalysisDermatan SulfateCorneal dystrophyCorneal OpacityCorneal erosionAntigens NeoplasmRecurrenceTransforming Growth Factor betaOphthalmologymedicineEye PainHumansChildAgedAged 80 and overCorneal Dystrophies HereditaryExtracellular Matrix Proteinsbusiness.industryCadherinsmedicine.diseaseImmunohistochemistryPedigreeRecurrent corneal erosionOphthalmologyClaudinsFemaleDecorinbusinessCell Adhesion MoleculesChondroitinBiomarkersAmerican Journal of Ophthalmology
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Post-prandial alterations in LDL size and subclasses in patients with growth hormone deficiency

2008

Abstract Objective Several studies have suggested that lipoproteins generated during the post-prandial phase are highly atherogenic, with modifications in low-density lipoproteins (LDL) size and density. In the present study we assessed post-prandial variations in LDL size and subclasses in patients with growth hormone deficiency (GHD). Design We studied in 12 hypopituitary patients with GHD and 10 healthy control subjects matched for gender, age and body mass index (BMI) post-prandial variations after a standardized meal consisting of 35% fat, 45% carbohydrate and 20% of protein (Clinutren Mix ® , Nestle) and containing calories corresponding to 1/3 of estimated basal metabolic rate. Blood…

AdultMalemedicine.medical_specialtyCalorieEndocrinology Diabetes and Metabolism10265 Clinic for Endocrinology and Diabetology610 Medicine & healthPilot ProjectsHypopituitarismSubclassGrowth hormone deficiencyEndocrinologyInternal medicinemedicineHumansLipoproteinGel electrophoresisMealbusiness.industryMiddle AgedCarbohydratePost-prandialPostprandial Periodmedicine.diseaseSmall dense LDL1310 EndocrinologyLipoproteins LDL2712 Endocrinology Diabetes and MetabolismEndocrinologyCase-Control StudiesGrowth HormoneBasal metabolic rateGrowth hormone deficiencyFemalelipids (amino acids peptides and proteins)businessBody mass indexGrowth Hormone &amp; IGF Research
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Small intestine bacterial overgrowth and irritable bowel syndrome-related symptoms: Experience with Rifaximin

2009

AIM: To estimate the prevalence of small intestinal bacterial overgrowth (SIBO) in our geographical area (Western Sicily, Italy) by means of an observational study, and to gather information on the use of locally active, non-absorbable antibiotics for treatment of SIBO. METHODS: Our survey included 115 patients fulfilling the Rome II criteria for diagnosis of irritable bowel syndrome (IBS); a total of 97 patients accepted to perform a breath test with lactulose (BTLact), and those who had a positive test, received Rifaximin (Normix®, Alfa Wassermann) 1200 mg/d for 7 d; 3 wk after the end of treatment, the BTLact was repeated. RESULTS: Based on the BTLact results, SIBO was present in about 5…

AdultMalemedicine.medical_specialtyConstipationGastroenterologyRifaximinIrritable Bowel SyndromeLactulosechemistry.chemical_compoundAnti-Infective AgentsGastrointestinal AgentsInternal medicineIntestine SmallSmall intestinal bacterial overgrowthmedicineHumansSicilyIrritable bowel syndromeBreath testSettore MED/12 - GastroenterologiaGastrointestinal agentmedicine.diagnostic_testbusiness.industrydigestive oral and skin physiologyGastroenterologyBacterial InfectionsGeneral Medicinemedicine.diseaseRifamycinsLactuloseRifaximinBrief ArticlesBreath TestschemistryEtiologyFemalemedicine.symptombusinessSIBO rifaximinemedicine.drugWorld Journal of Gastroenterology
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Visceral adiposity index is associated with insulin sensitivity and adipocytokine levels in newly diagnosed acromegalic patients.

2012

Context: The visceral adiposity index (VAI) has proved to be a marker of visceral adipose dysfunction, strongly associated with insulin sensitivity in both the general and specific populations of patients at metabolic risk. Objective: The objective of the study was to test VAI as a useful tool to assess early metabolic risk in acromegaly. Patients: Twenty-four newly diagnosed acromegalic patients (11 women and 13 men, aged 54.9 ± 13.6 yr) were grouped into those with normal (group A, n = 13, 54.2%) and those with high VAI (group B, n = 11, 45.8%). Outcome Measures: Glucose, hemoglobin A1c, nadir and area under the curve (AUC) of GH (AUCGH) during the oral glucose tolerance test, AUCCpeptide…

AdultMalemedicine.medical_specialtyEndocrinology Diabetes and MetabolismClinical BiochemistryAdipokineContext (language use)Intra-Abdominal FatBiochemistrySettore MED/13 - EndocrinologiaEndocrinologyInsulin resistanceAdipokinesInternal medicineAcromegalymedicineAcromegaly Visceral Adiposity IndexHumansInsulin-Like Growth Factor IAdiposityAgedAdiponectinbusiness.industryHuman Growth HormoneLeptinBiochemistry (medical)Area under the curveMiddle Agedmedicine.diseaseEndocrinologyArea Under CurveAcromegalyFemaleMetabolic syndromeInsulin ResistancebusinessThe Journal of clinical endocrinology and metabolism
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