RESUMO
We present the clinical case of a 51-year-old male patient, affected by common variable immunodeficiency (CVID). In his history recurrent orbital cellulitis, exacerbation of chronic right dacryocystitis, lacrimal sac empyema with periodic episodes of dacryocutaneous fistolization. The coexistence of these particular immunological defects and the lack of literature about similar cases required an accurate evaluation of each step of the diagnostic and therapeutic approach. We performed an endoscopic endonasal dacryocystorhinostomy with "cold" instruments. No surgical complications were observed in the immediate postsurgical period. We balanced the necessity of a follow-up based on frequent office evaluation and the current pandemic emergency, in order to not expose the patient to an additional infectious risk. The discussion will focus on several aspects: the adequacy of radiological, the "cold" surgical technique, the choice of avoiding endocanalicular prostheses. We will discuss also about the use of oral and topical therapy, avoiding probable post-surgical infectious complications.
Assuntos
Acromegalia/sangue , Hormônio Liberador de Hormônio do Crescimento , Hormônio do Crescimento/sangue , Hiperprolactinemia/sangue , Fragmentos de Peptídeos , Prolactina/sangue , Hormônio Liberador de Tireotropina , Adenoma/sangue , Adenoma/diagnóstico , Adulto , Feminino , Humanos , Masculino , Neoplasias Hipofisárias/sangue , Neoplasias Hipofisárias/diagnóstico , RadioimunoensaioAssuntos
Obesidade/terapia , Adolescente , Adulto , Fatores Etários , Idoso , Doenças Cardiovasculares/complicações , Criança , Diabetes Mellitus/terapia , Dieta Redutora , Feminino , Humanos , Hipertensão/complicações , Masculino , Obesidade/complicações , Obesidade/epidemiologia , Fatores Sexuais , Desejabilidade Social , Fatores SocioeconômicosRESUMO
Cardiovascular anomalies are found in 50% of the cases of Turner's and Noonan's syndromes-diseases with the same phenotype but with a different genotype. In the former, the most common congenital heart diseases are aortic coarctation (30%) and bicuspid aortic valve (34%), while in the latter they are pulmonary valvular stenosis (60%), interatrial septal defect (25%) and obstructive or non obstructive hypertrophic cardiomyopathy (17%). We have described two cases, respectively of Noonan's and Turner's syndrome. The prominent features of the first case are the transmission of the syndrome on the male line, since father and son--the latter being our patient--are affected with the same syndrome, and the occurrence of a non obstructive hypertrophic cardiomyopathy involving both the ventricles, a situation not yet described in Noonan's syndrome. A subvalvular membranous aortic stenosis has instead been found in our patient with Turner's syndrome: this cardiac anomaly has never been described within the aforementioned syndrome in medical literature.
Assuntos
Estenose Aórtica Subvalvar/complicações , Cardiomiopatia Hipertrófica/complicações , Síndrome de Noonan/complicações , Síndrome de Turner/complicações , Adulto , Ecocardiografia , Eletrocardiografia , Feminino , Humanos , Cariotipagem , Masculino , Síndrome de Noonan/transmissão , FenótipoRESUMO
6 women (mean age 38 years) with high Thyroid Stimulating Hormone (TSH) serum levels because affected from primary hypothyroidism were studied. 6 healthy women (mean age 31 years) represented the control group. All subjects underwent evaluation of serum TSH, Follicle Stimulating Hormone (FSH), Luteinizing Hormone (LH), basally and 20, 30, 60, 120 minutes after administration of Gonadotropin Releasing Hormone (GnRH: 100 meg. IV). Seric FSH and LH show a large increase 30 minutes after GnRH either in healthy or in hypothyroid subjects. TSH is unresponsive to GnRH in normal condition, while shows a clear decrease (-78%) 30 minutes after GnRH in primary hypothyroidism. Rarely the hypothalamic releasing hormones possess an inhibitory effect on anteipophyseal secretions. Previously a GnRH inhibitory effect on prolactin (PRL) release from PRL secreting tumors in rat. The GnRH inhibitory effect on TSH release in pathological conditions such as primary hypothyroidism is difficult to explain: it may be that GnRH acts on Central Nervous System or at pituitary level: in the last case it could bind sites which are not quite different in the different glycoprotein secreting cells.
Assuntos
Hormônio Liberador de Gonadotropina , Hipotireoidismo/sangue , Tireotropina/sangue , Adulto , Feminino , Hormônio Foliculoestimulante/sangue , Humanos , Hormônio Luteinizante/sangue , Fatores de TempoRESUMO
Xanthine dehydrogenase (XD) is a key enzyme in the catabolism of purines. A recently isolated XD cDNA clone (Terao et al., Biochem. J. 283, 863-870, 1992) was used to analyze the genomic structure and chromosomal location of this gene. XD was found to be a single-copy gene approximately 70 kb long with 36 exons containing the transcribed sequence. The length of the mouse XD gene was much longer and the structure more complex than those of the Drosophila and Calliphora homologs. The locus encoding the XD gene (designated Xd) was mapped to the distal part of mouse chromosome 17 by haplotype analysis of 114 interspecific backcross mice. Although Xd inactivation may be responsible for xanthinuria, a rare human genetic disease, this genetic locus is not a candidate for any previously described mouse mutation. The transcription start site was defined by primer extension and RNase mapping analysis, using liver mRNA. No other transcription start sites were identified in the liver and a variety of other organs after treatment with an interferon inducer. Transient transfection analysis in NIH3T3, tEnd, and COS cells with an appropriate reporter gene demonstrated that a functional promoter is located within the first 268 bp preceding the transcriptional initiation site.