Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene

Hemochromatosis is a genetically heterogeneous condition. Mutations in the recently described hemojuvelin gene were found in patients with juvenile hemochromatosis, who usually manifest clinical signs of iron overload, including cardiomyopathy and hypogonadism, in their teens and early 20s. In this report, we describe three Japanese patients who showed typical clinical and hepatic histological damage compatible with hemochromatosis at around 50 years of age. Genetic analyses showed that all three patients carried mutations in the hemojuvelin gene. The first patient was homozygous for a novel mutation (745G > C [D249H]), and the second and third patients from the same family were homozygous for another novel mutation (934C > T [Q312X]). No mutations in their HFE, hepcidin, transferrin receptor 2, or ferroportin genes were found. One patient had chronic infection with Helicobacter pylori. The age at initial presentation of hemojuvelin-hemochromatosis occurs over a wider range than previously described.     

Adrenocorticotropic hormone is produced in the ventricle of patients with essential hypertension

OBJECTIVE: Aldosterone is produced in the ventricle of patients with hypertension. The present study was designed to examine whether adrenocorticotropic hormone (ACTH) and cortisol are also produced from the heart in patients with essential hypertension. METHODS: The study population consisted of 57 patients with essential hypertension and 28 control subjects. Plasma levels of ACTH, aldosterone, and cortisol were measured in the aortic root, the anterior interventricular vein and the coronary sinus during cardiac catheterization. RESULTS: The plasma levels of ACTH were significantly higher at the anterior interventricular vein and coronary sinus than at the aortic root (12.7 +/- 1.0 versus 10.7 +/- 0.9 pmol/l, P < 0.001; and 12.3 +/- 1.0 versus 10.7 +/- 0.9 pmol/l, P < 0.001, respectively) in the hypertension group, whereas there were no significant differences in the levels among these sites in the control group. The plasma levels of aldosterone were significantly higher at the anterior interventricular vein and the coronary sinus than at the aortic root (261.7 +/- 16.4 versus 239.1 +/- 15.1 pmol/l, P < 0.001; and 258.8 +/- 17.0 versus 239.1 +/- 15.1 pmol/l, P < 0.01, respectively) in the hypertension group, whereas there were no significant differences in the levels among these sites in the control group. CONCLUSIONS: ACTH as well as aldosterone is produced, but cortisol is not produced, from the ventricle of patients with essential hypertension.     

An approach to verifying delayed menarche in Japanese female athletes. Analysis by wavelet interpolation method

AIM: The theory of delayed menarche in female athletes, despite some evidence for such a delay, has not yet been verified. We examined a means to verify this hypothesis by comparing ages at menarche and at peak height velocity (PHV) derived from the wavelet interpolation method (WIM) for female athletes and non-athletes (control group). METHODS: We identified age at maximum peak velocity as the index of the physical maturation rate by WIM. We then conducted a study involving 144 female athletes in their 1st year at University in the Tokai area, all of whom had competed in a national high school sports competition (athlete group). Past school records of these subjects' heights from the 1st grade of elementary to the 3rd year of senior high school (1984-1995) were collected, and ages at menarche were ascertained from questionnaires. A control group of 78 non-athletes was similarly examined. RESULTS: This difference (interval) between age at menarche and age at PHV was 1.62 years (SD=1.25) in the athlete group and 1.08 years (SD=0.74) in the control group. The difference between the 2 groups was statistically significant (P<0.01). This finding provides evidence that menarche in female athletes is delayed in relation to physical maturation rate. CONCLUSIONS: This result alone cannot establish whether athletic training is the only cause of this delay; however, an approach to verifying the hypothesis of delayed menarche in female athletes has been established by this finding.     

Dysmenorrhea: evaluation with cine-mode-display MR imaging--initial experience

PURPOSE: To prospectively evaluate uterine contractility during menstruation and its relation to primary dysmenorrhea by using magnetic resonance (MR) imaging with cine mode display. MATERIALS AND METHODS: The university ethics committee approved the study protocol, and all subjects gave written informed consent. Nineteen healthy women were examined during menstrual cycle days 1-3 by using a 1.5-T-magnet unit. Sixty serial half-Fourier rapid acquisition with relaxation enhancement MR images of the uterus were obtained every 3 seconds for 3 minutes and displayed in cine mode. MR images were analyzed in terms of thickness of the inner low-signal-intensity myometrial layer, presence of endometrial distortion, and uterine peristalsis detectability. Pain was assessed by using a four-point scale. For 56 MR imaging cases, the association between MR imaging findings and pain degree was examined with Spearman correlation and Mann-Whitney tests. MR imaging findings in the dysmenorrheic and eumenorrheic subject groups were compared by using Mann-Whitney and chi(2) tests. The area of the uterine myometrium in both groups was calculated for quantitative assessment of uterine contraction and was compared between the groups by using the Student t test. RESULTS: MR imaging findings revealed marked changes during cycle days 1-3. Thickness of the inner low-signal-intensity myometrial layer and endometrial distortion were significantly associated with pain degree (P < .001), while uterine peristalsis was undetectable when pain was severe or moderate. The area of the uterine myometrium significantly decreased during cycle days 1-3 in the dysmenorrheic group, as compared with that in the eumenorrheic group (P = .010). CONCLUSION: MR imaging features of the uterus on cycle days 1-3 correlated with pain degree. Cine-mode-display MR imaging is a potential tool for evaluating dysmenorrhea.     

Radiofrequency ablation of metastatic mediastinal lymph nodes during cooling and temperature monitoring of the tracheal mucosa to prevent thermal tracheal damage: initial experience

Institutional review board approval and patient informed consent were obtained. Radiofrequency ablation in a total of 10 sessions was performed for each mediastinal lymph node metastasis from esophageal cancer that had a mean largest diameter of 2.2 cm +/- 0.6 (standard deviation) in seven male patients (mean age, 59 years). During ablation, cooling and temperature of the tracheal mucosa were monitored in the proper position in eight of the 10 sessions; in the other two sessions, monitoring was not done because of tracheal stenosis (perforation resulted). Three of the four lymph nodes that were 2.0 cm or smaller in largest diameter showed no evidence of local progression for at least 1 year since ablation; all three of the nodes greater than 2.0 cm in largest diameter progressed within 6 months. The 1-year survival rate was 60%; the median survival time was 13 months. Radiofrequency ablation may be effective for local control of small metastatic mediastinal lymph nodes, and cooling and temperature monitoring of the tracheal mucosa in the proper position may prevent thermal tracheal damage.     

Optimal Covering Material for Stent-Grafts Placed in the Portal Vein in a Canine Model

Purpose We evaluated the suitability of Dacron, polytetrafluoroethylene (PTFE), and small intestinal submucosa (SIS) as a covering material for stent-grafts placed in the portal vein as compared with a bare stent. Methods Using 24 beagle dogs, either bare stents or stent-grafts covered with Dacron, PTFE, or SIS were placed in the main trunk of the portal vein in 6 animals each. Portography was performed immediately after stent placement, and at 2, 4, and 12 weeks thereafter. Next, the extracted stents or stent-grafts were examined histopathologically. Neointimal thickness adjacent to the stent wire and at the midportion between the stent wires was compared among the groups. Then, the neointimal thickness at the sub- and supragraft sites was compared between each stent-graft group. Serial changes in the histologic features of the thickened neointima were also investigated. Results No significant difference was noted in the mean stenotic ratio of the portal vein diameter between the bare stent and PTFE groups, whereas it was significantly higher in the Dacron and SIS groups compared with the bare stent group. In neither of the studies on neointimal thickness adjacent to the stent wire and at the midportion between the stent wires were any significant differences noted between the neointimal thickness of the bare stent group and the sum of the neointimal thickness of the PTFE group, whereas the sum of the neointimal thickness of the Dacron and SIS groups was significantly greater than that of the bare stent group at both sites. In the comparison of the supragraft neointimal thickness, the SIS group showed significantly greater thickness than the PTFE group, while the difference between the Dacron and PTFE groups was not significant. In the comparison of the subgraft neointimal thickness, the Dacron and SIS groups showed significantly greater thickness than the PTFE group. Conclusion The present results indicate that of the three covering materials examined here, PTFE is the most suitable material for grafts placed in the portal vein.     

Pallidoreticular damage in acute carbon monoxide poisoning: diffusion-weighted MR imaging findings

We describe a case of carbon monoxide poisoning that led to pallidoreticular damage and delayed leukoencephalopathy. Serial diffusion-weighted MR imaging was performed. A restricted water diffusion pattern was demonstrated in the globus pallidus and substantia nigra in the early stage. Diffusion-weighted imaging is useful for early identification of the effects of acute carbon monoxide poisoning.     

Increased accumulations of AMsopropyl-p-[123I]-iodoamphetamine related to tumefactive multiple sclerosis

We present a 21-year-old woman with tumefactive multiple sclerosis (MS) that exhibited a rapidly progressive course. There were multiple tumor-mimicking contrast-enhance lesions with surrounding edema and mass effect on magnetic resonance imaging. Both early and delayed brain single photon emission computed tomography (SPECT) with N-isopropyl-p-[123I]-iodoamphetamine demonstrated increased accumulations of the tracer and a high retention on the lesions. The SPECT findings represent a diagnostic pitfall for distinguishing MS from malignant brain tumors in patients with intracranial tumor-like lesions.