Osmolar stimulation of vasopressin secretion in man: comparison of various protocols

The osmolar stimulation of vasopressin (AVP) release has been studied in 5 healthy subjects using two comparative protocols (infusion of 5% NaCl over 2 h vs 2.5% NaCl over 3 h). As AVP may be secreted by episodic bursts, AVP plasma concentrations were determined both in discrete plasma samples and in integrated samples drawn continuously by a pump over periods of 30 min. There was an earlier rise of plasma osmolality and AVP during the 5% NaCl infusion, but the final maximal value of plasma AVP did not differ in the two protocols. Plasma AVP rose from 1.3 +/- 0.7 to 3.8 +/- 1.5 during the 2.5% NaCl infusion and from 1.1 +/- 0.1 to 3.9 +/- 0.6 pg/ml during the 5% NaCl infusion. In both protocols a significant correlation obtained between the discrete and the integrated values of plasma AVP (r = 0.77 and r = 0.84 respectively, P less than 0.05). These results demonstrate that the two protocols of osmolar stimulation are equipotent in releasing AVP and do not induce episodic secretion.     

抑制磷酸二酯酶5治疗心力衰竭的机制和临床意义

磷酸二酯酶5（PDE5）影响环磷酸鸟苷（cGMP）维持血管平滑肌紧张性的生理学效应,在阴茎海绵体的静脉系统和肺血管系统中尤为明显。     

Monitoring evaluation system for high-specialty hospitals

Hospital evaluation is a fundamental process to identify medical units' objective compliance, to analyze efficiency of resource use and allocation, institutional values and mission alignment, patient safety and quality standards, contributions to research and medical education, and the degree of coordination among medical units and the health system as a whole. We propose an evaluation system for highly specialized regional hospitals through the monitoring of performance indicators. The following are established as base thematic elements in the construction of indicators: safe facilities and equipment, financial situation, human resources management, policy management, organizational climate, clinical activity, quality and patient safety, continuity of care, patients' and providers' rights and obligations, teaching, research, social responsibility, coordination mechanisms. Monitoring refers to the planned and systematic evaluation of valid and reliable indicators, aimed at identifying problems and opportunity areas. Moreover, evaluation is a powerful tool to strengthen decision-making and accountability in medical units.     

Occipital condyle fracture: an unusual airbag injury

The installation of airbags in motor vehicles, in association with the use of seat belts, has reduced the incidence of head injuries, as well as significantly decreasing morbidity and mortality in motor vehicle accidents. Nevertheless, the literature on the subject increasingly refers to lesions related to airbag deployment. These are usually minor, but in certain circumstances, severe and fatal injuries can result. This is a case report of serious injury due to airbag deployment, involving a restrained driver who suffered occipital condylar injury when his airbag deployed in a frontal collision. The range of airbag associated injuries is reported and predisposing factors, such as the probable proximity to the airbag housing, is discussed.     

Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare recessive disorder resulting from mutations in the autoimmune regulator ( AIRE ) gene. There is no information on AIRE mutations in Indians. In a cross-sectional study, nine patients (eight families), from four referral hospitals in India, were studied for AIRE mutations by direct sequencing. We screened for new mutations in 150 controls by allele-specific PCR. The patients had 1–7 known components of APECED. Three patients had unusual manifestations: presentation with type 1 diabetes; chronic sinusitis and otitis media; and facial dysmorphism. All patients carried homozygous, probably recessive, AIRE mutations. Two unrelated patients from a small in-bred community (Vanika Vaisya) in south India carried an unreported missense mutation, p.V80G, in the N-terminal caspase recruitment domain. Another unique mutation, p.C302X, resulting in a truncated protein with deletion of both zinc-finger domains, was detected in a patient from Gujarat. Neither mutation was detected in controls. Other mutations, previously described in Caucasians, were: 13 base pair deletion (p.C322fsX372) in 4 (38%), and Finn-major (p.R257X) and p.R139X (Sardinian) mutation in one subject each. In conclusion, in this first series of APECED in Indians, we detected AIRE mutations previously reported in Caucasians, as well as unique mutations. Of these, p.V80G is possibly an ancestral mutation in an in-bred community.     

Diagnosis and treatment of a case of adenocarcinoma of the cervix in pregnancy]

The authors report a case of mucinous-papilliferous adenocarcinoma of the cervical canal in a pregnant woman. After performing three Pap tests which demonstrated the presence of normoconformate endometrial cells partly with a normal conformation and partly with nuclear atypia, the patient was monitored with periodical obstetric examinations. A neoformation of the portio was observed at week 28: differential diagnosis was made between a hypertrophic benign tumour and a well differentiated adenocarcinoma. The patient was monitored until birth and colposcopy was then performed with biopsy about one month later. Histological tests were positive for mucinous papilliferous adenocarcinoma. The patient underwent conisation with rotating loop and subsequently Piver 2 surgery owing to the suspected spread of the neoplasm beyond the margin of resection. The operative finding was negative and the patient is now free of disease.     

Association of the steroid synthesis gene CYP11a with polycystic ovary syndrome and hyperandrogenism

Biochemical data implicate an underlying disorder of androgen biosynthesis and/or metabolism in the aetiology of polycystic ovary syndrome (PCOS). We have examined the segregation of the genes coding for two key enzymes in the synthesis and metabolism of androgens, cholesterol side chain cleavage (CYP11a) and aromatase (CYP19), with PCOS in 20 multiply-affected families. All analyses excluded CYP19 cosegregation with PCOS, demonstrating that this locus is not a major determinant of risk for the syndrome. However, our results provide evidence for linkage to the CYP11a locus (NPL score = 3.03, p = 0.003). Parametric analysis using a dominant model suggests genetic heterogeneity, generating a maximum HLOD score of 2.7 (alpha = 0.63). An association study of 97 consecutively identified Europids with PCOS and matched controls demonstrates significant allelic association of a CYP11a 5' UTR pentanucleotide repeat polymorphism with hirsute PCOS subjects (p = 0.03). A strong association was also found between alleles of this polymorphism and total serum testosterone levels in both affected and unaffected individuals (p = 0.002). Our data demonstrate that variation in CYP11a may play an important role in the aetiology of hyperandrogenaemia which is a common characteristic of polycystic ovary syndrome.