Insulin sensitivity in Familial Multiple Lipomatosis.

BACKGROUND: Familial Multiple Lipomatosis (FML) is a mainly autosomal dominant rare benign condition. Excessive fat storage (obesity), as well as the inability to store fat (lipodystrophy), is associated with insulin resistance. AIM: Our study aimed to document if also patients affected by regional excess of subcutaneous adipose tissue as in FML show this feature. PATIENTS AND METHODS: Metabolic studies were performed in four brothers. A standard 75 g oral glucose tolerance test (OGTT) was submitted to each patient, with blood sampling at 0, 30, 60, 90, 120 and 180 min. Insulin sensitivity was calculated from the OGTT as the oral glucose insulin sensitivity index (OGIS), using the 2-h OGIS equation. Eight obese, non-diabetic subjects matched for BMI, age and sex, were used as controls. RESULTS: All the patients revealed a normal glucose tolerance and a normal HBA1c. CONCLUSIONS: Isolated subcutaneous fat accumulation is not necessarily associated with insulin resistance, on the contrary it may even allow a relatively high degree of insulin sensitivity.

Acral melanoma of the hallux.

OBJECTIVE: A case of misdiagnosed acral melanoma of the hallux and its diagnostic challenge are herein presented. Acral melanoma is insidious and subtle. A methodic approach to any suspicious lesions is mandatory. A case of misdiagnosed acral melanoma of the hallux is herein reported in a 66-year-old healthy man. Suggestions concerning similar non-healing lesions are herein presented. MATERIALS AND METHODS: It was firstly clinically diagnosed and treated as a micosis at another centre. The absence of any amelioration after three years pushed us to perform a biopsy. RESULTS: An acral melanoma was revealed, treated by amputation. CONCLUSIONS: In case of a non-healing ulcer of the lower extremities, melanoma should be taken into consideration. Even in absence of any suggestive risk factors or clear signs of melanoma, the lack of any improvement after treatment should raise doubts about diagnosis. In particular, biopsy is advisable as a first attempt to guide the management.

Italian multicenter study of reversible cerebral ischemic attacks. Part 5. Risk factors and cerebral atherosclerosis.

As part of a prospective study, the influence of several premorbid and environmental factors on the presence, extent and severity of cerebral vessel atherosclerosis was studied in 462 patients with clinical diagnosis of RIA who underwent cerebral angiography. The extent and severity of atherosclerosis of the cerebral vessels was quantified using extracranial and intracranial cerebrovascular scores (ECS, ICS) based on the number and severity of the lesions in 11 extracranial and 21 intracranial arterial segments. Results of univariate and multivariate analyses indicate that the presence of atherosclerotic changes of cerebral vessels, as shown by angiography, was strongly related with age in both sexes. The lesions were more frequent in males, in particular under age 55. Elevated cholesterol was associated with a higher incidence of atherosclerotic lesions. Smoking was associated with a higher incidence of extracranial lesions. Age, smoking and history of hypertension were the best predictors of the extent and severity of cerebral vessel atherosclerosis.

Autosomal dominant limb girdle myopathy with ragged-red fibers and cardiomyopathy. A pedigree study by in vivo 31P-MR spectroscopy indicating a multisystem mitochondrial defect.

We describe a late-onset autosomal dominant limb girdle myopathy, associated with dilated cardiomyopathy and mental deterioration. In two affected members of the pedigree with histochemical (ragged-red and cytocrome c oxidase - negative fibers) and ultrastructural abnormalities of muscle mitochondria, in vivo muscle phosphorus MR spectroscopy disclosed a slow rate of phosphocreatine resynthesis after exercise. Brain phosphorus MR spectroscopy revealed a defect of the energy metabolism in the two patients and in a third asymptomatic member, as shown by a significantly low phosphocreatine, increased ADP and decreased phosphorylation potential. Molecular analysis of muscle mitochondrial DNA failed to reveal any known mutation, including multiple deletions of the mtDNA which have been associated with some autosomal dominant mitochondrial diseases. The multisystem clinical involvement, the presence of ragged-red fibers and the alterations revealed by in vivo brain and muscle 31P-MRS suggest that this limb-girdle syndrome represents an unusual phenotype of mitochondrial cytopathy.

Retinal vasculitis in rheumatoid arthritis: an angiographic study.

The authors studied sixty patients affected by classical or definite rheumatoid arthritis (RA), to evaluate the possible existence of retinal vasculitis, by employing fluorescein angiography. Retinal vasculitis was found in 18% of the examined patients, even if no clinical and ophthalmoscopic signs of retinal vessel inflammation were present. The authors suggest that the retina should be examined in RA patients, since retinal vasculitis may be asymptomatic at the beginning, but can represent one of the possible extra-articular manifestations of the disease.

[Role of echocardiography in the treatment of heart failure with permanent electric stimulation]. / Ruolo dell'ecocardiografia nel trattamento dello scompenso cardiaco con elettrostimolazione permanente.

Permanent cardiac pacing has been proposed for the treatment of atrioventricular and intraventricular conduction defects and related hemodynamic alterations which may worsen the performance of the failing heart. The initial positive results of right sided atrioventricular synchronous pacing have not been confirmed in later studies involving a larger number of patients with different clinical characteristics. The reason of these conflicting results may be related to the poor understanding of the complex interaction between the adopted pacing mode and the different type, grade and hemodynamic significance of conduction defects. The negative hemodynamic effects of the altered sequence and synchrony of ventricular activation during right sided pacing may outweigh the benefits of an optimal atrioventricular synchrony. Biventricular stimulation has been proposed to improve the electromechanical activation of the left ventricle in patients with left bundle branch block. Ongoing prospective studies are evaluating the potential benefits of biventricular stimulation versus alternative treatments. Although there are no standard indications to cardiac pacing in heart failure it seems that this therapeutic tool may be of value in selected patients with conduction defects which unfavorably affect the cardiac function and that are amenable to be corrected by an appropriate pacing modality. Doppler echocardiography, in its different applications, emerges has a key technique for the selection of patients who may benefit from permanent pacing and for the selection of the best pacing modality. Doppler echocardiography criteria may also be useful in the selection of homogeneous groups of patients to be enrolled in prospective studies aimed at assessing the potential benefits of permanent pacing versus alternative treatments.

Multiple lipomatosis after stem cell trasplant and chemotherapy: a case report.

BACKGROUND: Lipomas are the most common type of soft tissue benign tumor. They can be either isolated entities or involved in a multiple lipomatosis, which may have a familial basis or be an acquired condition. AIM: Chemotherapy and/or blood stem cell transplantation may be plausible causes of multiple lipomatosis. MATERIALS AND METHODS: A 28 year-old patient was diagnosed with non-seminomatous germ cell left testicular cancer. The patient was addressed to chemotherapy and peripheral blood stem cell chemomobilization. After stem cells collection, the patient underwent autologous peripheral blood stem cell transplant. RESULTS: A subsequent de novo multiple lipomatosis onset developed. CONCLUSIONS: Although this is a preliminary study and further elaborations are needed, dermatologists and surgeons facing with multiple lipomatosis should consider previous chemotherapy and peripheral blood stem cell mobilization/transplant as possible causes of its onset.

The use of retinal fluorangiography techniques in the study of cerebral circulation.

Retinal fluorangiographic techniques can be employed in the study of cerebrovascular disorders in relation to the embryological, anatomic and functional affinities between the cerebral and retinal circulation. The techniques currently used have been improved by means of the computer analysis of the photographic image, thus allowing qualitative evaluations of the vascular dynamics and quantitative evaluations referred to remarkable variations. These improved techniques can be summed up as follows: equidensitometry with arbitrary colors, computerized fluorangiography for the evaluation of the vascular caliber, computer analysis of mean transit time (m.t.t.). A new type of qualitative evaluation not considering the fluorangiographic image has recently been introduced: the fluorophotometric analysis.

Frequency of blood-retina and blood-brain barrier changes in multiple sclerosis.

The frequency of blood-retina barrier (BRB) and blood-brain barrier (BBB) alterations was studied in 20 cases of Multiple Sclerosis (MS) (12 relapsing and 8 chronic-progressive). BBB impairment was found in 7 out of 20 patients (35%), 3 of whom had the chronic-progressive form of the disease. Alterations to BRB were found in 9 out 20 cases (45%): 2 out 12 (17%) of the relapsing cases and 7 out 8 of the chronic-progressive cases (87.5%). BBB impairment was found in 3 of the 9 cases (33%) with BRB alterations. Our findings indicate that BRB and BBB alterations do not occur simultaneously. We propose that the higher frequency of BRB alterations in chronic-progressive MS may be a sign of persistent antigenic stimulation.

Fluorescein retinal angiography in the early diagnosis of optic disc edema.

33 patients hospitalized for suspected intracranial space-occupying lesion with negative or dubious ophthalmoscopic findings underwent fluorescein retinal angiography (FRA). The final diagnosis was based on the clinical and instrumental evidence. In 18 patients FRA showed late fluorescence of the optic disc with blurring of its margins. 17 of them had an intracranial space-occupying lesion and 1 had had a transient attach of cerebral ischemia. The FRA was negative in 15 patients: in 13 the final diagnosis ruled out raised intracranial space-occupying lesion. Comparison of the FRA results with the final diagnosis yields sensitivity, specificity and positive predictability ratings of 94.44, 92.85 and 94.44% for FRA.

Sandhoff's disease (type II GM2 gangliosidosis). Clinical, biochemical and ultrastructural study of a case.

A case of GM2 gangliosidosis is reported: the diagnosis has been made by clinical findings showing macular cherry-red spot and a progressive neurologic symptomatology with epilepsy, by electron microscopic observation in conjunctival fibroblasts of numerous vacuoles ("zebra bodies") and by absence of total hexosaminidase activity in leukocytes. An abnormal increase of urinary oligosaccharides has also been found.