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Introductory Journal Article 2006; 27(Suppl 1): 5-6 PubMed PMID: 17261995 Citation  Keywords:  Dental Amalgam:adverse effects, Humans, Hypersensitivity, Immune System:drug effects, Inflammation, Metals:adverse effects, Neurosecretory Systems:drug effects,.   

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Journal Article 2006; 27(6): 828-832 PubMed PMID: 17187024 Citation  Keywords:  Acromegaly:blood, Adenoma:blood, Adult, Aged, Aged, 80 and over, Bromocriptine:therapeutic use, Female, Follow-Up Studies, Hormone Antagonists:therapeutic use, Human Growth Hormone:blood, Humans, Insulin-Like Growth Factor I:analysis, Male, Middle Aged, P.   

OBJECTIVES: Acromegaly is a rare disease with increased mortality rate. The aim was to present our centre experience in the diagnosis and treatment of a series of patients suffering from acromegaly.

METHODS: 130 patients (55 men, 75 women) aged 19-84 years presenting with clinical and hormonal features of acromegaly, attending Department of Endocrinology and Out-patient Clinic between 1990 and 2004 were studied. They were analyzed their GH and IGF-1 levels, CT and MRI scans, and they were administered medical therapy, neurosurgery and radiotherapy.

RESULTS: We have observed 106 macro-, 16 microadenomas and 1 case of ectopic GHRH. 115 patients were operated, as cured were recognized 74 of them. Pituitary irradiation was applied to 11 patients, in 4 of them it did not cure the disease. Medical therapy was efficacious in 12% patients treated with bromocriptine, 73% with long-acting lanreotide and 58% with long-acting octreotide. In 7 patients other malignant neoplasm were detected. 11 patients died during the follow-up.

CONCLUSIONS: There is possible underdiagnosis of acromegaly in our region, especially in males. We have observed better diagnostic opportunities in recent years when MRI was available. It was accompanied by better outcome of surgical and pharmacological treatment and better control of the complications of the disease....

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Case Reports 2006; 27(6): 691-694 PubMed PMID: 17187023 Citation  Keywords:  Age of Onset, Gene Deletion, Humans, Male, Membrane Proteins:genetics, Mental Disorders:complications, Pedigree, Severity of Illness Index, Suicide, Urologic Diseases:complications, Wolfram Syndrome:complications,.   

OBJECTIVE: Wolfram syndrome (WS) is an autosomal recessive disorder characterized by the association of juvenile-onset diabetes mellitus and optic atrophy. It is also known by the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness).

PATIENTS, METHODS AND RESULTS: We diagnosed Wolfram syndrome in 2 male siblings and determined a new mutation (c. 1522-1523delTA, Y508fsX421). Both affected siblings were homozygous, other family members were heterozygous. Dilated renal outflow tracts in the third decade, and neuropsychiatric disorders including bipolar disorder and neurosensorial deafness appear in the fourth decade in ordinary WS, whereas these features appeared in second decade in our patients. This mutation may be responsible for early appearance of dilated renal outflow tracts and multiple neurological abnormalities. Psychiatric disturbances such as suicide were reported at increased frequency in Wolfram patients and in heterozygous carriers. Suicidal behaviour occurred in our patients when they were yet 11 and 13 years old. Therefore, our findings may indicate that there may be a relationship between this WFS1 mutation and mood disorder such as suicidal behaviour.

CONCLUSIONS: We determined a new mutation (c. 1522-1523delTA, Y508fsX421) in WS1 gene in 2 siblings with Wolfram syndrome. This mutation may be responsible for early appearance of clinical features of Wolfram syndrome, and there may be a relationship between this mutation and suicidal behaviour....

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Journal Article 2006; 27(6): 769-772 PubMed PMID: 17187022 Citation  Keywords:  Adult, Atrophy, Case-Control Studies, Female, Humans, Hypothalamus:pathology, Intracellular Signaling Peptides and Proteins:metabolism, Magnetic Resonance Imaging:instrumentation, Male, Middle Aged, Narcolepsy:metabolism, Neurons:metabolism, Neuropeptides.   

OBJECTIVES: Narcolepsy with cataplexy is associated with a loss of hypocretin. The question is, if there is an autoimmune or neurodegenerative process selectively killing the hypothalamic hypocretin-containing neurons or if these cells survive but fail to produce hypocretin. To support one of these hypothesis we aimed to detect structural changes in the hypothalamus of narcoletic patients.

MATERIALS AND METHODS: Nineteen narcoleptic patients were compared to 16 healthy controls. We used voxel-based morphometry (VBM), an unbiased MRI morphometric method with a high sensitivity for subtle changes in gray and white matter volumes to investigate hypothalamic region in this condition.

RESULTS: Classical MRI protocol revealed no structural abnormalities, but using VBM we found significant reduction in hypothalamic gray matter volumes between patients and controls.

CONCLUSIONS: VBM showed hypothalamic gray matter loss in narcolepsy with cataplexy. This suggest that functional abnormalities of hypocretin neurons in narcolepsy are associated with structural changes of hypothalamus....

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Case Reports 2006; 27(6): 729-732 PubMed PMID: 17187021 Citation  Keywords:  Diagnosis, Differential, Eye Diseases:congenital, Female, Humans, Melanocytes:pathology, Melanoma:complications, Melanosis:congenital, Middle Aged, Nevus, Pigmented:pathology, Optic Disk:pathology, Optic Nerve Neoplasms:pathology, Uveal Neoplasms:complica.   

: A case of a 57-year old woman with uveal melanoma of the posterior pole arising in the congenital ocular melanocytosis mimicking clinically malignant transformation of the optic disc melanocytoma is presented....

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Journal Article 2006; 27(6): 755-757 PubMed PMID: 17187020 Citation  Keywords:  Adult, Ghrelin, Humans, Injections, Intravenous, Male, Neuropeptide Y:blood, Peptide Hormones:administration & dosage, Reference Values, Stimulation, Chemical,.   

OBJECTIVE: Ghrelin is a 28 amino-acid peptide with a strong GH-releasing activity and a complex role in regulation of appetite, fuel utilization, body weight and composition. Neuropeptide Y (NPY) is a well-known stimulator of pathways favouring food intake and energy storage. Recently, studies in rodents suggested a possible mediation of ghrelin action by NPY. In contrast, until now no evidence of ghrelin-NPY interaction in humans has been provided. In the present study, we examined whether ghrelin influences NPY secretion in normal men.

SUBJECTS AND DESIGN: Twelve healthy normal men (aged 24-35 years; body mass index (BMI) 22.3+/-0.93 kg/m2) were tested twice at 08.00 AM on two different days, in random order at weekly intervals, after an overnight fast and rest in bed. An intravenous bolus of 1 microg/kg body weight ghrelin (esperimental test) or an equal amount of normal saline (control test) was injected at time 0. Blood was taken before and over 90 minutes after injections, and was used for the measurement of plasma NPY levels.

RESULTS: Plasma levels of NPY slightly, but significantly rose in response to ghrelin, with a mean peak level at 15 min after injection, whereas no significant change was observed after saline administration.

MAIN FINDING: Our results show a significant enhancement of plasma NPY levels under ghrelin stimulation.

CONCLUSIONS: To our knowledge, this is the first demonstration of a ghrelin-NPY interaction in humans, which may suggest a possible mediation of ghrelin action by NPY in humans....

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Comparative Study 2006; 27(6): 773-778 PubMed PMID: 17187019 Citation  Keywords:  Adolescent, Adult, Age Factors, Aged, Aging:blood, Atherosclerosis:blood, Case-Control Studies, Chemokine CCL2:blood, Child, Child, Preschool, Down Syndrome:blood, Female, Humans, Interleukin-6:blood, Male, Middle Aged, Nerve Growth Factor:blood, Statisti.   

OBJECTIVES: Down's syndrome (DS) is the most frequent chromosomal aberration in men and it is invariably associated with mental retardation.

MATERIAL AND METHODS: Plasma levels of nerve growth factor (NGF), interleukin-6 (IL-6), and monocyte chemoattractant protein-1 (MCP-1) from non demented DS subjects of three different age-cohorts (2-14 years; 20-50 yrs; >60 yrs) and healthy controls were measured. No clinical and sub-clinical inflammation was apparent in DS patients.

RESULTS: Plasma levels of NGF were higher in children, adult and old DS subjects than in controls. However, a significant age-related decrease of NGF levels was present in DS subjects. Serum levels of IL-6 and MCP-1 were also increased in DS children and adults, but not in older DS patients.

CONCLUSIONS: High levels of circulating NGF might protect DS from clinical complications of atherosclerosis. However, the striking decrement of peripheral NGF levels with advancing age may predispose DS to clinical manifestation of dementia after adulthood....

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Journal Article 2006; 27(6): 745-747 PubMed PMID: 17187018 Citation  Keywords:  Acidosis:blood, Adult, Apgar Score, Asphyxia Neonatorum:blood, Birth Weight, Blood Gas Analysis, Female, Fetal Blood:chemistry, Gestational Age, Humans, Infant, Newborn, Insulin-Like Growth Factor Binding Protein 3:blood, Insulin-Like Growth Factor I:anal.   

OBJECTIVE: Determination and pathogenesis of perinatal asphyxia is still an important problem. During the asphyxial insult and recovery phase, alteration of the growth factors has been demonstrated and there is evidence that expression of insulin-like growth factors (IGF) and their insulin-like growth factor binding proteins (IGFBP) in injured sites in experimental studies. Aim of this study was to evaluate relationship between serum IGF-1, IGFBP-3 levels and perinatal asphyxia.

PATIENTS AND METHODS: 18 term-newborn who defined as perinatal asphyxia and 12 term-healthy newborn were enrolled. Umbilical cord IGF-1 and IGFBP-3 levels were detected and searched correlation with apgar scores and umbilical artery gas analysis as pH, pC02, pO2, base excess, HCO3, ctO2, SO2 and lactate levels.

RESULTS: Cord blood IGF-1 and IGFBP-3 levels for asphyxiated newborns were lower than normal group (27.8+/-2.6 ng/ml, 55.1+/-2.8 ng/ml respectively, p<0.01 for IGF-1; 1107.7+/-320.4, 1682.5+/-364.1, p<0.001 for IGFBP-3). Cord blood IGF-1 levels were positively correlated with birth weight; first and 5th minute Apgar score, cord blood arterial pH, ABE, HCO3, SO2 levels. Cord blood IGFBP-3 levels were positively correlated with first and 5th minutes Apgar scores, cord blood arterial pH, pCO2, ABE, HCO3, sO2, and also negatively correlated with cord CO2 and cord lactate levels.

CONCLUSION: Our study demonstrates that exposure to hypoxia and acidosis at birth strongly correlated with a fall in IGF-1 and IGFBP-3 levels in cord blood....

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