Hypertension and aortorenal disease in Alagille syndrome

Alagille syndrome is a rare congenital multisystem disorder that may involve heart disease and pulmonary or peripheral artery stenosis. We report the clinical and radiological presentation of five adult patients with Alagille syndrome, hypertension and renal artery stenosis. All had systolic hypertension and a narrowing of the abdominal aorta, corresponding to a secondary midaortic syndrome. Renovascular disease progressed during follow-up, with increases in blood pressure, decreases in glomerular filtration rate and/or kidney atrophy. A literature review identified several anecdotal reports of Alagille syndrome associated with hypertension, renal artery stenosis and/or midaortic syndrome. We discuss this condition, focusing on diagnosis, differential diagnosis, associated conditions and management. Cardiologists, nephrologists and radiologists should be aware of this rare cause of renovascular hypertension and of the need for clinical, biological and echographic follow-up.     

Isolated systolic hypertension: data on a cohort of young subjects from a French working population (IHPAF)

Elderly patients with isolated systolic hypertension (ISH)--systolic blood pressure (SBP) > or =140 mmHg and diastolic blood pressure (DBP) <90 mmHg--have increased mortality and morbidity. The aim was to study the incidence of ISH in a younger population of between 15 and 60 years of age, and to measure pulse pressure (PP), mean arterial pressure (MAP) and heart rate (HR) in these subjects. The study population consisted of 27 783 subjects, aged 15-60 years, untreated for hypertension (HT) from a cohort of employees formed to study the incidence of HT in the French working population (AIHFP). BP and HR were measured with a validated, automatic device after 5, 6 and 7 min at rest. The prevalence of ISH was 6.9% in men, 2.3% in women. This prevalence was over 5% in young men and increased at 40-44 years; it was negligible in young women, but increased at 50-54 years to about 10% (ie to the same level as in men of the same age): PP in subjects with ISH (46.9 mmHg) was significantly higher than in the normotensive group (NT-40.9 mmHg); it was comparable in both young men (65.5 mmHg) and older men (66 mmHg); it was higher in men (63.1 mmHg) than in women (61.5 mmHg). HR was higher in ISH than in NT and it was higher in women ( approximately 5 bpm) in whom it decreased with age. The prevalence of ISH is not negligible in HT (30% men, 25% women), with a high prevalence in young subjects and elevated PP, MAP and HR values. These data should be taken into account as elevated ISH, PP and HR are considered as cardio-vascular risk factors.     

Recent progress in the diagnosis, prognostic evaluation and treatment of pheochromocytomas

INTRODUCTION: Pheochromocytoma is a catecholamine-secreting neoplasm of chromaffin tissue. It is a rare disease. Biochemical tests should be performed only in patients at high risk of pheochromocytoma, and an imaging procedure only in those with positive biochemical tests. CURRENT KNOWLEDGE AND KEY POINTS: The most specific and sensitive diagnostic test for the disease is the determination of plasma or urinary metanephrines. The tumor can be located by computerized tomography, magnetic resonance imaging, and specific scintigraphy. Ten to 20% of pheochromocytomas result from hereditary diseases, including multiple endocrine neoplasia type 2, von Hippel Lindau disease, and neurofibromatosis 1. Familial cases are diagnosed earlier, and are more frequently bilateral and recurring than sporadic cases. About 10% of the cases are malignant either at first operation or during follow-up, malignancy being diagnosed by the presence of lymph node, visceral or bone metastases. The probability of a recurrence is positively correlated with the urinary excretion of metanephrines and tumor size. Recurrences are more frequent in cases with ectopic tumors and in those with a low plasma epinephrine to total catecholamine ratio. Patients, especially those with familial tumors or low epinephrine secretion, should be followed-up indefinitely. FUTURE PROSPECTS AND PROJECTS: Treatment for malignant recurrences includes surgery, therapeutic embolization, chemotherapy, and the application of therapeutic doses of metaiodobenzylguanidine. Metyrosine, phenoxybenzamine, or somatostatin analogs may help to control blood pressure and to alleviate symptoms in patients with malignant pheochromocytoma; however such a treatment has no antiproliferative effect.     

Piecemeal degranulation of mast cells in the inflammatory eyelid lesions of interleukin-4 transgenic mice. Evidence of mast cell histamine release in vivo by diamine oxidase-gold enzyme-affinity ultrastructural cytochemistry

We used light and electron microscopy to analyze the eyelid inflammation that develops in transgenic mice that overexpress interleukin-4 (IL-4; Tepper et al, Cell 62:457, 1990). Analysis of alkaline Giemsa-stained plastic sections examined by light microscopy (Dvorak et al, J Exp Med 132:558, 1970), as well as by routine transmission electron microscopy, indicated that the mast cells in the inflammatory eyelid lesions were undergoing piecemeal degranulation, a form of secretion in which the cells' cytoplasmic granules exhibit characteristic morphologic changes that are thought to be associated with the prolonged, vesicle-mediated release of the granules' constituents. Moreover, by using a newly reported enzyme affinity-gold method, which stains histamine based on binding to diamine oxidase-gold (Dvorak et al, J Histochem Cytochem 41:787, 1993), we show that these activated mast cells had released much of their histamine content. The eyelid lesions also exhibited increased numbers of mast cells; interstitial fibrosis, particularly around cutaneous nerves and blood vessels; activated fibroblasts; focal axonal damage; venules with endothelial cells containing numerous vesiculo-vacuolar organelles; and infiltrates of neutrophils and eosinophils. Our findings illustrate that overexpression of the IL-4 gene in vivo can result in eyelid lesions associated with piecemeal degranulation of mast cells, as well as tissue fibrosis and a variety of other pathologic changes. These results also represent the first direct morphologic evidence for histamine secretion by mast cells in vivo.     

Prise en charge actuelle de l’hypertension artérielle

Hypertension is a common health problem with serious consequences for individuals and a heavy attributable burden for populations. Reducing this burden requires preventive actions at the population level and early diagnosis at the individual level, followed by proactive interventions with proven benefits. Given the variability of blood pressure measurement, diagnosis is established only after repeated measurements under standardized conditions, if possible outside the clinic. Lifestyle changes can modestly reduce blood pressure; their impact is significant if they can be achieved on a large scale. Hypertension treatment requires a rational pharmacological approach, which can reach the target blood pressure within less than 6 months and three pharmacological classes at most in more than 80% of cases. Specialized consultation is required in the remaining 20% to detect secondary hypertensions, to optimize drug therapy and to discuss, in a minority of cases, non-pharmacological treatments. Recommendations are written by experts who select, interpret, and extrapolate the results of clinical research. As a consequence, they are sometimes unsuitable for primary care practice and frequently inconsistent across guidelines. Efforts are currently made to produce less disputable and more usable guidelines.     

West Syndrome Due to Perinatal Insults

Summary: Clinical, neuroradiological data and outcome of epilepsy of 32 patients with symptomatic infantile spasms caused by perinatal insults are reported. Neuroradiological investigations showed focal as well as diffuse cerebral lesions. Fifteen children had a porencephalic lesion, 12 had periventricular leukomalacia and five had diffuse bilateral cerebral atrophy, associated with status marmoratus in one child and bilateral ulegyria in another. Eight patients (25%) had epilepsy following West syndrome. In the group of 15 children with porencephalic cysts, the lesion was always unilateral, but topography and extension varied. Eight children had circumscribed cysts involving the rolandic or parieto-occipital regions, and the outcome of epilepsy was favorable. Seven patients had large lesions involving the frontal lobe, associated with unilateral hemispheric atrophy in four cases. These four children had an unfavorable epilepsy outcome. In the 12 patients with periventricular leukomalacia, all premature, eleven had no seizure relapse after the spasms; one of these children had epilepsy. In the five full-term patients with bilateral and diffuse cerebral lesions, three children had epilepsy at the last observation. In children with leukomalacia and in patients with localized porencephalic lesions the outcome of epilepsy appears to be better than in patients with diffuse cerebral lesions or in children with extensive porencephalic cysts, particularly those involving the frontal lobe.     

挤压综合征救治原则的争议探讨

挤压伤/挤压综合征是突发性自然或人为灾害中（地震、车祸、矿难或战争）最常见的损伤,可继发严重的全身反应,致死致残率极高,救治困难。本文总结近年来国内外地震造成的挤压伤/挤压综合征的发病率、机制、治疗措施及存在问题,以期改进治疗方法与措施,提高生存率及保肢率。