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Biomedical subjects

G Grateau

Publications and source records attributed to G Grateau.

At least 91 records · Page 5Linked to original sources
PubMed1993

Late-onset familial amyloid polyneuropathy with the TTR Met 30 mutation in France.

Four unrelated French cases of familial amyloid polyneuropathy are reported. Clinical onset ranged from the sixth to the ninth decade. Sensory signs were predominant initially in the lower limbs; motor changes, and in one case autonomic involvement, appeared later. Amyloid disease was clinically limited to the peripheral nervous system. In two cases, there was no evidence of familial disease. DNA analysis was performed in these four patients and in two children of Patient 1. Restriction analysis of amplification products of exon 2 of the transthyretin gene was positive for the valine 30 to methionine mutation. These four unrelated patients live in different areas of France. Further studies are needed to determine whether these mutations have a common origin and whether they are related to the Portuguese mutation.

Aged↗
PubMed1993

[Familial cutaneous amyloidosis].

Familial diseases with skin lesions of amyloidosis are numerous and diverse, including widely different entities. The most homogeneous group is the one where cutaneous amyloidosis is clinically isolated and of the lichenoid type. It is probable that in most of these forms the amyloid protein is a keratin. A genetic approach of the candidate gene type would confirm or infirm this hypothesis. In the second group of diseases the lesions of amyloidosis are associated with other genodermatoses and with two other familial diseases: Partington's disease and hereditary multiple endocrine neoplasia with cutaneous and visceral lesions. The position of amyloidosis in these different diseases varies and the mechanisms of its occurrence are unknown. The third group is that of skin amyloidosis as part of hereditary systemic amyloidosis. Future advances in this matter will rest on the characterization of the amyloid protein involved and on the discovery of genetic abnormalities responsible for these diseases.

Amyloidosis↗
PubMed1992

[Familial amyloidosis].

Familial amyloidosis is characterized by its great clinical and genetic heterogeneity. The most frequent form is amyloidotic neuropathy which may be due to deposits of several amyloid proteins, such as transthyretin, apolipoprotein A1 and gelsolin. Other varieties include predominant lesions of another organ, such as kidney, heart, eye or skin. In most of these lesions, a punctual mutation affects the amyloid protein itself. In other varieties, the amyloid protein is not affected by mutation and, rarely, unknown. The advances achieved in our understanding of transthyretin deposition should improve our knowledge of amyloidosis in general.

Adult↗
PubMed1992

[Campylobacter fetus spondylodiscitis].

The case of a sixty-two year old man with Campylobacter fetus spondylodiscitis is reported. Despite of adequate antibiotherapy, the outcome was bad and death occurred. Three other cases of Campylobacter fetus spondylodiscitis are reported in the literature. Tomodensitometry disclosed a paravertebral abscess with gas, that make our observation original.

Aged↗
PubMed1991

Study of a restriction fragment length polymorphism for serum amyloid P gene in rheumatoid arthritis with amyloidosis.

Amyloidosis is a severe complication of rheumatoid arthritis (RA). A restriction fragment length polymorphism (RFLP) using MspI for the serum amyloid P gene was recently found to be associated with amyloidosis in juvenile arthritis. The aim of our study was to determine whether this RFLP could serve as a genetic marker for the development of secondary amyloidosis in RA. The prevalence of this marker was determined in 4 groups of patients: patients with amyloidosis secondary to RA; with amyloidosis secondary to various diseases excluding RA; with RA but without amyloidosis; adult controls without any known disease related to reactive amyloidosis. No significant differences were seen between these 4 groups with relation to this polymorphism, so that it cannot serve as a genetic marker for amyloidosis complicating RA in our population.

Amyloidosis↗
PubMed1990

[Dilatation of bile ducts in polycystic kidney disease in adults].

We report the cases of 4 adult patients with polycystic kidney disease and dilatation of bile ducts. Dilatation involved the extra-hepatic bile ducts in all 4 cases and also affected the intra-hepatic bile ducts in 3 cases. A prospective ultrasonographic study in search of biliary tract abnormalities was undertaken in 40 patients with dominant polycystic kidney disease. No bile duct dilatation was found in this series, which indicates that the lesion is rare. The 4 cases reported here increase the collection of hepatobiliary lesions associated with polycystic kidney disease of adults.

Bile Duct Diseases↗
PubMed1990

Renal granulomatous sarcoidosis: report of six cases.

Six cases of chronic renal failure related to granulomatous renal sarcoidosis are reported and compared with data in the literature. The particular features of sarcoidosis granulomatous interstitial nephritis should be emphasised because presentation may be misleading. Renal failure usually presents with a rapidly progressive course, either isolated or associated with mild proteinuria and sterile leukocyturia, while extrarenal localisations may be absent. Diagnosis should be suspected on the basis of elevated or paradoxically normal serum calcium concentrations, due to increased plasma concentrations of calcitriol, while immunoreactive circulating parathormone concentrations are depressed. Calcitriol as well as angiotensin-converting enzyme could represent unregulated secretion products from granulomatous tissue and their plasma concentrations may roughly reflect activity of the disease. Early corticosteroid treatment dramatically improves renal function but long-term renal prognosis may be oblitered due to progressive chronic renal failure related to fibrosis scarring.

Adrenal Cortex Hormones↗
PubMed1989

Short-term effects of parathyroidectomy on plasma biochemistry in chronic uremia.

Parathyroidectomy (PTx) is indicated in hemodialysis (HD) patients who have severe osteitis fibrosa unresponsive to vitamin D therapy or in whom the latter treatment is contraindicated. Immediately after PTx, plasma immunoreactive parathyroid hormone, calcium and phosphorus concentrations decline abruptly. However, little is known in such patients about the short-term effects of PTx on plasma alkaline phosphatase (AP) activity and plasma aluminum (Al) levels. The present, preliminary study was performed to determine such parameters in 37 HD patients, and to correlate them with data of bone histology. Mean plasma AP activity started to increase after PTx from day 4 onwards. Thus, AP values significantly higher than pre-PTx values were observed at day 7 and 14 (415 +/- 54 vs. 619 +/- 77 and 749 +/- 83 IU/liter, means +/- SEM; N = 37; P less than 0.05 and 0.001, respectively). This increase, in the absence of changes in liver function, was mainly due to the bone-specific iso-AP. Moreover, the degree of increase in plasma AP activity was higher in the subgroup with negative (group I, 21 patients) than in that with positive bone Al staining (group II, 16 patients). However, plasma osteocalcin (BGP) did not change after PTx (N = 8). Basal plasma Al levels were significantly higher in group II both before and two weeks after surgery.(ABSTRACT TRUNCATED AT 250 WORDS)

Alkaline Phosphatase↗
PubMed1989

In vivo T cell preactivation in chronic uremic hemodialyzed and non-hemodialyzed patients.

The production and targeting of a major T cell derived lymphokine, Interleukin 2 (IL-2), were studied in 23 uremic patients undergoing regular hemodialysis treatment and 20 uremic patients prior to the onset of renal replacement therapy. In hemodialyzed patients, abnormally increased proportions of circulating T cells spontaneously expressing high affinity IL-2 receptors (IL-2 Rec) were detected: they bound a monoclonal antibody specifically directed to the IL-2 Rec 55 kDa chain (Tac antigen) (mean +/- SEM: 7.12 +/- 0.81% in patients vs. 2.15 +/- 0.39% in normal controls, P less than 0.0001) and significantly proliferated in presence of human recombinant IL-2 alone (mean +/- SEM: 5438 +/- 729 cpm in patients vs. 1647 +/- 244 cpm in normal controls). Hemodialyzed patients also exhibited significantly increased serum levels of soluble IL-2 receptor (mean +/- SEM: 4036 +/- 947 U/ml in patients vs. 253 +/- 29 U/ml in normal controls. P less than 0.001). Moreover, a significantly decreased IL-2 activity was detected in the supernatants of stimulated T cells from hemodialyzed patients (mean +/- SEM: 0.93 +/- 0.12 U/ml in patients vs. 2.49 +/- 0.22 U/ml in normal controls, P less than 0.0001). In nine hemodialyzed patients who were analyzed before and immediately after the hemodialysis session no acute modifications of the various parameters analyzed were detected. Although less profound, a similar pattern of T cell abnormalities was observed in the uremic non-hemodialyzed patients studied.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1989

Hypophosphatemia induced by mechanical ventilation in patients with chronic obstructive pulmonary disease.

The aim of this study was to assess prospectively the variations of serum phosphorus concentration (P) after onset of mechanical ventilation (MV) in patients with chronic obstructive pulmonary disease (COPD) and acute respiratory acidosis. In 14 COPD patients, we measured P, PaCO2, and pH, immediately before MV (H0), then one hour (H1), 4 (H4), 7 (H7), 12 (H12), and 24 h (H24) after starting MV. P at H0 was in or above the normal range in ten patients and below normal range in four patients. P decreased significantly (p less than .001) after MV at H1, H4, H7, H12, and H24. Hypophosphatemia was present in all patients after MV, but was severe (p less than .3 mmol/L) in only two patients. There was a significant correlation (r = .56 p less than .01) between the decrease of P and the increase of pH after MV. Hypophosphatemia was a constant and early finding after institution of MV in COPD patients and was presumably related to an intracellular shift of P secondary to the correction of respiratory acidosis.

Acidosis, Respiratory↗