Familial Mediterranean fever gene and protection against asthma.

BACKGROUND: Asthma is an inflammatory airway disease caused by interaction between susceptibility genes and diverse environmental factors. In Israel, asthma seems to be familial and more severe in patients of Iraqi Jewish descent. On the other hand, asthma is less frequent in individuals with familial Mediterranean fever, an autoinflammatory disease prevalent in the Iraqi Jewish community and linked to mutations in the familial Mediterranean fever gene, designated MEFV. OBJECTIVES: To explore a possible role for mutated MEFV in the reduced susceptibility to asthma and to determine its expression in Israeli subjects of Iraqi origins. METHODS: Using a case-control approach, we studied the presence of the 3 most common MEFV mutations (M694V, V726A, and E148Q) in DNA samples from 75 patients with asthma and 45 asymptomatic first-degree relatives, all of Iraqi Jewish origin. The severity of asthma was evaluated using a published severity score. RESULTS: Eleven patients with asthma and 14 of their relatives carried 1 or 2 mutations in the MEFV gene, a carrier rate significantly lower in patients with asthma than in their first-degree relatives and in ethnically matched healthy individuals (P < .03 and P < .003, respectively). Carriers of MEFV mutations had less severe disease, compared with noncarriers (P < .002). CONCLUSION: These findings suggest that MEFV mutations may have a protective effect in the pathogenesis of asthma.     

O2 Uptake in hyperthyroidism during constant work rate and incremental exercise

Summary To investigate the effect of hyperthyroidism on the pattern and time course of O₂ uptake ( O₂) following the transition from rest to exercise, six patients and six healthy subjects performed cycle exercise at an average work rate (WR) of 18 and 20 W respectively. Cardiorespiratory variables were measured breath-by-breath. The patients also performed a progressively increasing WR test (1-min increments) to the limit of tolerance. Two patients repeated the studies when euthyroid. Resting and exercise steady-state (SS) O₂ (ml·kg^–1·min^–1) were higher in the patients than control (5.8, SD 0.9 vs 4.0, SD 0.3 and 12.1, SD 1.5 vs 10.2, SD 1.0 respectively). The increase in O₂ during the first 20 s exercise (phase I) was lower in the patients (mean 89 ml·min^–, SD 30) compared to the control (265 ml·min^–1, SD 90), while the difference in half time of the subsequent (phase 11) increase to the SS O₂ (patient 26 s, SD 8; controls 17 s, SD 8) were not significant (P = 0.06). The OZ cost per WR increment ( O₂/WR) in ml·min^–1·^–1, measured during the incremental period (mean 10.9; range 8.3–12.2), was always within two standard deviations of the normal value (10.3, SD 1). In the two patients who repeated the tests, both the increment of O₂ from rest to SS during constant WR exercise and the O₂/WRs during the progressive exercise were higher in the hyperthyroid state than during the euthyroid state. While both resting and exercise O₂ are increased in the hyperthyroid patients, the O₂ cost of a given increment of WR is within the normal range. However, a small reduction in the O₂ requirement to perform exercise following treatment of the hyperthyroid state suggests a subtle change O₂ cost of muscle work in this disease.     

Pulse pressure is more susceptible to the white coat effect than is systolic blood pressure: observations from real-life ambulatory blood pressure monitoring

BACKGROUND: Pulse pressure is a derivative of arterial stiffness. We have previously demonstrated ambulatory pulse pressure to be relatively independent from the blood pressure (BP) lowering during sleep, and thus of a neurogenic effect. On the other hand, white coat BP effects are thought to involve neurogenic activation. The aim of this work was to analyze white coat induced variability in pulse pressure. METHODS: Percent clinic-awake differences in systolic BP (SBP) and pulse pressure (white coat effects) were calculated for 688 consecutive subjects (mean age 60 +/- 16 years, 58% female). Of the subjects, 23% had controlled hypertension, 45% uncontrolled hypertension, 8% normotension, and 4% isolated office hypertension; all were referred to our unit for 24 h ambulatory BP monitoring. RESULTS: Pulse pressure highly correlated with SBP (r = 0.82, P <.00001). We found a larger white coat effect on pulse pressure than on SBP (8.3% and 5.2%, respectively, P < or =.0001). This was true in all subgroups except in normotensive subjects. Specifically, the magnitude of the white coat effect on pulse pressure was greater than on SBP in subjects with treated hypertension, untreated hypertension, and isolated office hypertension, and in young hypertensive subjects, older subjects, and those with diabetes. CONCLUSIONS: Although pulse pressure is related to the mechanical properties of large arteries, it is also influenced by the white coat effect, a neurogenic process. Furthermore, in hypertensive but not in normotensive subjects, the white coat effect on pulse pressure is significantly more pronounced than on SBP.     

Recurrent Hepatitis Caused by Two Viruses Acquired Simultaneously during Blood Transfusion

Abstract. We here report 2 patients who have acquired two consecutive episodes each of acute hepatitis, within 6 months after blood transfusion. The clinical and biochemical course was typical of recurrent acute viral hepatitis, and the patients recovered completely after each episode. The first infection was probably caused by non-A, non-R hepatitis virus, whereas the second episode was caused by hepatitis B-virus. Thus, in addition to the absence of cross-immunity between hepatotrophic viruses, one may simultaneously acquire more than one virus without apparent interference.     

Poststreptococcal neprhitis and acute rheumatic fever in two adults

In two adult subjects who suffered acute episodes of rheumatic fever, sever kidney involvement developed with proteinuria and renal insufficiency. The clinical and histologic picture was typical of poststreptococcal (infectious) glomerulonephritis. During a follow-up period of more than three years, no clinical or biochemical abnormalities have been detected; thus, it is likely that both patients have recovered from their renal diseases. The coexistence of rheumatic fever and acute glomerulonephritis, which is uncommon even in your age groups, may be observed in adult subjects.     

Breath sound distribution images of patients with pneumonia and pleural effusion

OBJECTIVE: To determine whether breath sound distribution maps can differentiate between patients with pneumonia or pleural effusion versus healthy controls. METHODS: We recorded breath sounds from 20 patients conventionally diagnosed as having pleural effusion, 20 patients conventionally diagnosed as having pneumonia, and 60 healthy controls, of whom 20 served as a learning sample. All subjects were examined with a computer-based multi-sensor breath sound mapping device that records, analyzes, and displays a dynamic map of breath sound distribution. The physicians who interpreted the breath sound images were first trained in identifying common characteristics of the images from the learning sample of normals. Then the images from the 40 patients and the 40 controls were interpreted as either normal or abnormal. RESULTS: In the normal images, the left and right lung images developed synchronously and had similar size, shape, and intensity. The sensitivity and specificity of blinded differentiation between normal and abnormal images when the physician interpreter did not know the patient's workup were 82.5% and 80%, respectively. The sensitivity and specificity of blinded detection of normal and abnormal images when the interpreter did know the patient' workup were 90% and 88%, respectively. CONCLUSIONS: Computerized dynamic imaging of breath sounds is a sensitive and specific tool for distinguishing pneumonia or pleural effusion from normal lungs. The role of computerized breath sound analysis for diagnosis and monitoring of lung diseases needs further evaluation.     

Kidney transplantation unraveling Wolfram syndrome: a case report

BACKGROUND: In Wolfram syndrome insulin-dependent diabetes is associated with a multisystem neurodegenerative disorder. There are no prior reports of kidney transplantation in patients with Wolfram syndrome. METHODS: Kidney transplantation was undertaken in a child with dysplastic kidneys, sensorineural hearing impairment and bilateral optic atrophy-a combination of features insufficient to define Wolfram syndrome. RESULTS: After the procedure diabetes mellitus, diabetes insipidus and urinary bladder dysfunction emerged, thereby revealing Wolfram syndrome. CONCLUSIONS: We discuss the etiology of our patient's postoperative events, and conclude that kidney transplantation may expose dormant manifestations-or aggravate existing manifestations-of Wolfram syndrome.     

Estimation of autonomic response based on individually determined time axis

The analysis of the time-dependence of autonomic response requires: 1. A reliable procedure for the quantification of autonomic activity under nonsteady conditions, such as an algorithm for time-frequency decomposition (ex. SDA. Wigner-Ville, or others). 2. The choice of an adequate time scale for focusing on the data: (a) the regular, universal time scale, independent of the unsteady physiological conditions, or (b) a time axis defined by specific events related to an applied perturbation, as the indicators of specific experimental or physiological conditions, so that each individual is considered according to his own intrinsic time scale. The alignment of the various subjects according to their intrinsic time scale, reflecting their individual response mechanisms, may help to disclose a common pattern of autonomic function. Using an absolute time scale to align and average results for different subjects may obscure the underlying mechanisms. Several examples of autonomic challenges are presented, in which the use of an individual time scale contributes to unveil a typical response pattern: tilt test in vasovagal syncope, the autonomic effect of active standing on hypertension, and the autonomic response to acute hypoxia.