Replacement of the Descending Thoracic Aorta for Massive Aneurysm in Neonatal Marfan Syndrome

We describe a patient with neonatal Marfan syndrome presenting with massive ascending and descending thoracic aortic aneurysm. Because of rapidly progressive respiratory distress due to tracheobronchial compression, emergency replacement of the descending thoracic aorta with a 12-mm PTFE vascular prosthesis was undertaken at 1 month of age. The postoperative course was complicated by bilateral tension pneumothorax contributing to irreversible respiratory failure. The unique clinico-pathological features and the relevant surgical implications of the case are discussed. (J Card Surg 1994;9:109–114)     

Epidemiological,clinical and prognostic indices in IgA nephropathy

Summary: IgAN is the commonest primary glomerulonephritis in all parts of the world; the different incidence reported in different geographical areas is mainly due to different biopsy policies, even though genetic factors, still unclarified, may be acting. Progression to ESRF occurs in IgAN at a variable rate (average renal survival at 10 years is 80–87%), and many studies, reviewed in this paper, have sought to identify clinical and histological features which are predictive of the outcome. A functional impairment at presentation and a severe proteinuria are the most powerful clinical indicators of unfavourable prognosis, while both glomerular and interstitial sclerosis are the most reliable histological indicators. The fact that these prognostic indicators are not always reliable in predicting the outcome for a single patient, probably due to the pathophysiology of the progressive damage in this disease, is stressed.     

Localization of parathyroid enlargement: experience with technetium-99m methoxyisobutylisonitrile and thallium-201 scintigraphy,ultrasonography and computed tomography

Technetium-99m methoxyisobutylisonitrile (MIBI), like thallium-201, has recently been introduced as a myocardial perfusion agent and is now also showing very promising results in parathyroid scintigrapy. The results of ²⁰¹Tl/^99mTc-pertechnetate and ^99mTc-MIBI/^99mTc-pertechnetate subtraction scintigraphy, ultrasonography and computed tomography are presented in a series of 43 patients operated on for hyperparathyroidism. All four imaging modalities were confirmed to be reliable, scintigraphy being the most accurate. Sensitivities ranged from 81% to 95%, that of ^99mTc-MIBI being the highest. Moreover this tracer, which has more favourable physical and also biochemical properties, yielded images of superior quality. This allowed localization of the lesion by visual inspection only in as many as 86% of the patients with positive ^99mTc-MIBI/^99mTc-pertechnetate subtraction scintigraphy. We believe that the higher sensitivity, superior image quality and lower cost of ^99mTc-MIBI imaging will make ^99mTc-MIBI the new radiopharmaceutical of choice for parathyroid scintigraphy (when one takes into account the stability of labelling with large activities it is possible to perform three or four cardiac studies together with one parathyroid scintigraphic examination using one lyophililzed vial).     

Uveal effusion syndrome complicated by anterior ischemic optic neuropathy

We report on a case of idiopathic uveal effusion syndrome complicated by AION. To our knowledge such an association hasn't been previously described. We suggest that scleral thickening caused obstruction of vortex veins followed by uveal effusion and compression of posterior ciliary arteries within their intrascleral tract, leading to AION. Nevertheless it can't be excluded that AION was the result of mechanical compression on ciliary vessels of optic disc by choroidal detachment.     

Bilateral complete discoid medial meniscus combined with posterior cyst formation

Bilateral discoid medial menisci is an extremely rare condition of the knee and it can be associated to other pathological findings, including anterior portion cyst formation. We report on the clinical features, radiographic findings, treatment and results of one patient who presented a bilateral medial discoid meniscus combined with posterior portion cyst of the left knee. To the best of the author’s knowledge, this is the first case of bilateral medial discoid meniscus associated with posterior portion cyst formation.     

Assessment of enamel hypoplasia in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

The features of enamel hypoplasia in a small group of patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) are described. Using a recently developed method, the authors evaluated quantitatively the amount of defect in each tooth by measuring the width of the hypoplastic lesions and dividing the value by the crown height. They then assessed the degree of damage in each tooth type (from central incisors to second premolars) and patient. Canines were the most severely affected among maxillary and mandibular teeth, but all tooth types were involved. Analysing both the differences between patients and their age at the beginning of the defect, the authors observe that hypoparathyroidism is not responsible for the onset of enamel hypoplasia in APECED, although it may contribute to the damage.     

β-N-Acetylhexosaminadases in human cerebrospinal fluid and serum of patients with multiple sclerosis

β-N-Acetylhexosaminidase activity and isoenzyme have been investigated in normal human cerebrospinal fluid and that of patients with multiple sclerosis. β-N-acetylhexosaminidase activity in normal cerebrospinal fluids has been resolved into five components. The major component was in a form that eluted from DEAE cellulose at the same salt concentration as hexosaminidase As, the isoenzyme previously identified in human serum. Cerebrospinal fluid from patients exhibited a different isoenzyme profile, showing a remarkable increase in a form having a pI which was more acidic than that of As. These changes have a potential use in the diagnosis and further biochemical characterization of multiple sclerosis.     

Functional meaning of tryptophan-induced increase of 5-HT metabolism as clarified by in vivo voltammetry

Differential pulse voltammetry with carbon fiber electrodes was used to study serotonin (5-HT) metabolism in freely moving rats. The electrodes implanted in the striatum recorded the extracellular 5-hydroxyindoleacetic acid (5-HIAA) oxidation peak after oral tryptophan (150 mg/kg). This 5-HT precursor did not modify the 5-HIAA peak in any rat tested, but it raised 5-HIAA levels determined in total tissue by a classical biochemical method (HPLC). The administration of 5-hydroxytryptophan (5-HTP) (25 mg/kg i.p.) induced an increase of 5-HIAA detectable both in the extracellular medium by voltammetry and in tissue samples. As previously shown, dorsal raphe electrical stimulation raises extracellular 5-HIAA in the striatum and this effect is enhanced by pretreatment with tryptophan. The results suggest that tryptophan in 'normal' conditions enhances 5-HT metabolism without affecting 5-HT release unless such release is stimulated. 5-HTP increases 5-HT metabolism and release.     

Is uterine artery embolization for cervical ectopic pregnancy always safe?

The study objective was to assess the feasibility and the efficacy of bilateral uterine artery embolization (BUAE) for the treatment of cervical pregnancy. The design was a series of 3 cases of viable cervical pregnancy diagnosed by transvaginal ultrasonography and treated by means of BUAE and subsequent uterine curettage. Three women with viable cervical pregnancy underwent BUAE and subsequent uterine curettage in the department of obstetrics and gynecology, High Risk Pregnancy Center, University "Federico II" of Naples. Measurements included surgical outcomes and preservation of fertility. The treatment was effective in all cases. Two patients resumed normal menstruation about 1 month after the procedure, whereas 1 patient underwent a hysterectomy 2 weeks after embolization because of acute ischemic degeneration of a concomitant myoma. The conservative management of cervical pregnancy with angiographic BUAE is a feasible and effective option, even if subsequent hysterectomy may be required. Counseling is necessary.