RESUMO
Adrenocorticotropin-independent adrenal hyperplasias are rare diseases, which are classified into macronodular (>1 cm) and micronodular (≤1 cm) hyperplasia. Micronodular adrenal hyperplasia is subdivided into primary pigmented adrenocortical disease and a limited or nonpigmented form 'micronodular adrenocortical disease (MAD)', although considerable morphological and genetic overlap is observed between the 2 groups. We present an unusual case of a 44-month-old girl who was diagnosed with Cushing syndrome due to MAD. She had presented with spotty pigmentation on her oral mucosa, lips and conjunctivae and was diagnosed with multiple bone tumors in her femur, pelvis and skull base at the age of 8 years. Her bone tumor biopsies were compatible with osteoblastoma. This case highlights the importance of verifying the clinicopathologic correlation in Cushing syndrome and careful follow-up and screening for associated diseases.
Assuntos
Criança , Pré-Escolar , Feminino , Humanos , Biópsia , Túnica Conjuntiva , Síndrome de Cushing , Fêmur , Seguimentos , Hiperplasia , Lábio , Programas de Rastreamento , Mucosa Bucal , Osteoblastoma , Pelve , Pigmentação , Doenças Raras , Base do CrânioRESUMO
The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney. They can also cause a type 5 Bartter syndrome by inhibiting the apical potassium channel in the thick ascending limb of the loop of Henle in the kidney. This study presents a patient who had autosomal dominant hypocalcemia with Bartter syndrome due to an activating mutation Y829C in the transmembrane domain of the CaSR. Symptoms of hypocalcemia occurred 12 days after birth and medication was started immediately. Medullary nephrocalcinosis and basal ganglia calcification were found at 7 years old and at 17 years old. Three hypercalcemic episodes occurred, one at 14 years old and two at 17 years old. The Bartter syndrome was not severe while the serum calcium concentration was controlled, but during hypercalcemic periods, the symptoms of Bartter syndrome were aggravated.
Assuntos
Humanos , Síndrome de Bartter , Gânglios da Base , Cálcio , Extremidades , Homeostase , Hipocalcemia , Rim , Alça do Néfron , Nefrocalcinose , Glândulas Paratireoides , Hormônio Paratireóideo , Parto , Canais de Potássio , Receptores de Detecção de CálcioRESUMO
PURPOSE: Brain magnetic resonance imaging (MRI) findings and factors predictive of pathological brain lesions in boys with precocious puberty (PP) or early puberty (EP) were investigated. METHODS: Sixty-one boys with PP or EP who had brain MRI performed were included. PP was classified into the central or peripheral type. Brain MRI findings were categorized into group I (pathological brain lesion known to cause puberty; newly diagnosed [group Ia] or previously diagnosed [group Ib]); group II (brain lesion possibly related to puberty); and group III (incidental or normal findings). Medical history, height, weight, hormone test results, and bone age were reviewed. RESULTS: Brain lesions in groups I and II were detected in 17 of 23 boys (74%) with central PP, 9 of 30 boys (30%) with EP, and 7 of 8 boys (88%) with peripheral PP. All brain lesions in boys with peripheral PP were germ cell tumors (GCT), and 3 lesions developed later during follow-up. Group I showed earlier pubertal onset (P<0.01) and greater bone age advancement (P<0.05) than group III. Group III had lower birth weight and fewer neurological symptoms than "Ia and II" (all P<0.05). CONCLUSION: Earlier onset of puberty, greater bone age advancement, and/or neurological symptoms suggested a greater chance of pathological brain lesions in boys with central PP or EP. All boys with peripheral PP, even those with normal initial MRI findings, should be evaluated for the emergence of GCT during follow-up.
Assuntos
Adolescente , Humanos , Masculino , Peso ao Nascer , Encéfalo , Seguimentos , Incidência , Imageamento por Ressonância Magnética , Neoplasias Embrionárias de Células Germinativas , Puberdade , Puberdade PrecoceRESUMO
PURPOSE: The purpose of this study was to evaluate the relationship between radiation-induced activation of DNA repair genes and radiation induced apoptosis in A431 cell line. MATERALS AND METHODS: Five and 25 Gys of gamma radiation were given to A431 cells by a Cs-137 cell irradiator. Apoptosis was evaluated by flow cytometry using annexin V-fluorescein isothiocyanate and propidium iodide staining. The expression of DNA repair genes was evaluated by both Northern and Western blot analyses. RESULTS: The number of apoptotic cells increased with the increased radiation dose. It increased most significantly at 12 hours after irradiation. Expression of p53, p21, and hRAD50 reached the highest level at 12 hours after 5 Gy irradiation. In response to 25 Gy irradiation, hRAD50 and p21 were expressed maximally at 12 hours, but p53 and GADD45 genes showed the highest expression level after 12 hours. CONCLUSION: Induction of apoptosis and DNA repair by ionizing radiation were closely correlated. The peak time of inducing apoptosis and DNA repair was 12 hours in this study model. hRAD50, a recently discovered DNA repair gene, was also associated with radiation-induced apoptosis.
Assuntos
Humanos , Apoptose , Western Blotting , Linhagem Celular , Reparo do DNA , DNA , Citometria de Fluxo , Raios gama , Propídio , Radiação IonizanteRESUMO
PURPOSE: We performed this study to evaluate the process of radiation induced apoptosis in A431 skin epithelial cancer cell line. MATERIALS AND METHODS: Low to high dose radiation (0, 2, 5, 10, 25 Gy) was given to A431 cells by Cs-137 cell irradiator. Apoptosis was evaluated by cell morphology, dye exclusion test, and DNA laddering. RESULTS: Cell viability decreased as the radiation dose increased. Number of apoptotic bodies increased as radiation dose increased. It increased most significantly at 12 hours after irradiation. Lactate dehydrogenase activity in culture medium increased according to radiation dose and time after irradiation. CONCLUSION:: Radiation-induced apoptosis which was the main course of cell death in A431 cells could be analyzed quantitatively by counting apoptotic bodies under microscope. Apoptosis increased as radiation dose increased.
Assuntos
Apoptose , Morte Celular , Linhagem Celular , Sobrevivência Celular , DNA , L-Lactato Desidrogenase , PeleRESUMO
PURPOSE: Radiation adaptive response in human peripheral lymphocytes and mouse bone marrow cells was investigated using both metaphase analysis and micronucleus assay. We assessed the correlation between both tests. MATERIALS AND METHODS: Two groups of the human peripheral lymphocytes and mouse bone marrow cells were exposed to low dose (conditioning dose, 0.18 Gy) or high dose (challenging dose, 2 Gy) gamma-rays. The other 4 groups were exposed to low dose followed by high dose after several time intervals (4, 7, 12, and 24 hours, respectively). The frequencies of chromosomal aberrations in metphase analysis and micronuclei in micronucleus assay were counted. RESULTS: Chromosomal aberrations and micronuclei of preexposed group were lower than those of the group only exposed to high dose radiation. Maximal reduction in frequencies of chromosomal aberrations were observed in the group to which challenging dose was given at 7 hour after a conditioning dose (p<0.001). Metaphase analysis and micronucleus assay revealed very good correlation in both human lymphocytes and mouse bone marrow cells (r=0.98, p<0.001; r=0.99, p=0.001, respectively). CONCLUSION: Radiation adaptive response could be induced by low dose irradiation in both human lymphocytes and mouse bone marrow cells. There was a significant correlation between metaphase analysis and micronucleus assay
Assuntos
Animais , Humanos , Camundongos , Células da Medula Óssea , Medula Óssea , Aberrações Cromossômicas , Citogenética , Linfócitos , Metáfase , Testes para MicronúcleosRESUMO
BACKGROUND: Human cancel can be induced by various environmental factors such as virus, chemicals, and radiations. However, susceptibility of host to these environmental factors is not well studied. The purpose of this study was to investigate the chromosomal vulnerability to gamma-1rradiation of peripheral blood lymphocytes in patients with luring, gastric, and liver cancer. METHODS: Micronuclei (MN) test was done in 15 patients with gastric cancer, 18 patients with lung cancer, and 20 normal controls. Sister chromatid exchange (SCE) test was done in 13 patients with hepatocellular cancer and 14 normal controls. RESULTS: The baseline frequency of MN before irradiation in patients with lung cancer and gastric cancel was significantly higher than in controls (47+/-8, 73+/-9, and 8+/-l, respectively; p<0.01). After gamma-irradiation, the frequency of MN was also significantly higher than in controls (223+/-19, 269+/-43, and 285+/-56, respectively; p<0.05). The frequency of SCE in Patients with hepatocellular cancer was significantly higher her than in controls (9.0+/-0.6, 4.3+/-0.7, respectively; p<0.001). CONCLUSIONS: From this preliminay data, we concluded that chromosomes of peripheyal blood lymphocytes in patients with various cancers were more vulnerable to gamma-irradiation as compared to normal controls.
Assuntos
Humanos , Neoplasias Hepáticas , Neoplasias Pulmonares , Linfócitos , Troca de Cromátide Irmã , Neoplasias GástricasRESUMO
No abstract available.