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Biomedical subjects

J M Garcin

Publications and source records attributed to J M Garcin.

At least 19 recordsLinked to original sources
PubMed2001

[De La Chapelle syndrome].

OBJECTIVE: The De La Chapelle syndrome (XX male) is a peripheral hypogonadism concerning males with 46,XX karyotype. We conducted a retrospective study of 18 cases and report the main clinical biological and hormonal characteristics. PATIENTS AND METHODS: Clinical features (weight, height, aspect of the external genital organs, body hair, gynecomastia), hormone levels (testosterone, gonadotrophin, baseline and stimulated prolactin estradiol), and results of a Barr test and karyotype were recorded in all patients in addition to search for the SRY gene (in 8 of the 18 patients). Findings were compared with a matched male population and a Klinefelter syndrome population. RESULTS: Microrchidia was found in almost all the patients while the penis had a normal size. Signs of hypoandrogenism were frequent and gynecomastia was present in half the cases. De La Chapelle patients differed from Klinefelter patients by the absence of dysmorphism. DISCUSSION: Patients with De La Chapelle syndrome diagnosed around the age of 20 years do not have borderline disorders associating genitalia anomalies or sexual ambiguity. The majority of the patients bear the testis determining SRY gene on one of the X chromosomes, providing the rational explanation of the male phenotype, but 20% of the XX males doe not have this gene. The role of certain key genes that could be implicated in abnormal sexual differentiation is known, but the complexity and heterogeneous nature of this syndrome leaves many questions unanswered. Therapy is based on androgen replacement therapy given at an early stage.

Administration, Oral↗
PubMed2000

[Leiomyosarcoma of the right ventricle].

A 58-year-old woman has dyspnea and palpitations which reveal a leiomyosarcoma of the right ventricle. The medical imaging shows a lobulated sessile tumor attached to the ventricular septum and the tricuspid valve extending into the pulmonary artery trunk. The resection is performed with a tricuspid valvoplasty. In spite of chemotherapy (epirubicin-cyclophosphamide), relapse is observed with pulmonary metastases 17 months after the surgery. The death becomes on 18 months in congestive heart failure. From this case, the authors make a review of the literature about this exceptional tumour, and talk over the low possibilities of treatment, despite the capacities of the new ways of diagnosis.

Dyspnea↗
PubMed1997

Clinical features in 36 patients homozygous for the ARG 506-->GLN factor V mutation.

We analyzed the clinical features of 36 patients homozygous for the Arg 506 to Gln factor V mutation and found a circumstantial event at risk for thrombosis in 29 of the 31 patients with thrombosis. The most frequent predisposing factors were the post-partum period and the use of oral contraceptives in women, and surgery in both sexes. Venous thrombosis recurred in 48% of the patients. One patient had a myocardial infarction at age 33 years, and also had an antiphospholipid syndrome. Homozygous Gln 506 mutation leads to far less severe thrombotic complications than homozygous protein C and protein S deficiencies and does not seem to predispose patients to arterial thrombosis.

Adult↗
PubMed1995

[Chronic compartment syndrome].

Among causes of leg pains, a usual disability in athletes, chronic exertional compartment syndrome is far from being uncommon. To the opposite, descriptions concerning the others compartments such as the forearm or thigh are still scarce and poorly documented. A variety of techniques have been described for the measurement of intramuscular pressure. Intramuscular pressure measurement is a valuable and essential tool for diagnosing a compartment syndrome, but it is somewhat controversial when the deep posterior compartment is concerned. Conservative treatment is unsuccessful, whereas surgical decompression yield favorable results; two procedures are performed subcutaneous fasciotomy or open fasciotomy.

Chronic Disease↗
PubMed1993

[Comparative evaluation of diabetic cardiac autonomic neuropathy by spectrum analysis and Ewing's tests].

METHODS: 62 diabetic patients of both sex (age: 46 +/- 16 yr, BMI: 26.1 +/- 4 kg/m2, casual blood pressure: 134 +/- 17/81 +/- 11 mmHg, mean age of diabetes: 11 +/- 9 yr) without cardiovascular medications were recruited. Autonomic involvement was based on the results from a battery of five cardiovascular tests as suggested by Ewing. The result of each test and a scoring system was considered. All patients underwent power spectral analysis (PSA) of digital blood pressure (BP) and RR intervals recorded in the recumbent position and after tilting with a Finapres monitor. The percentage of total power (0.025-0.4 Hz) computed in the low-frequency band (0.070-0.139 Hz) computed in the low-frequency band (0.070-0.139 Hz) was chosen as a sympathetic index (sigma Ind). Results of tests were correlated with sigma Ind. RESULTS: 24 patients (39%) have an autonomic involvement. The most affected tests are: the Valsalva maneuver (VAL): 16% RR response from lying to standing (LS): 25%, sustained handgrip (SHG): 30%, postural hypotension (PH); 57%, deep breathing (DB): 87%. Correlations coefficients of cardiovascular tests and sigma Ind are: VAL/sigma Ind (SBP tilt): r = 0.277, p = 0.029; Val/sigma Ind (DBP tilt): r = 0.318, p = 0.012; VAL/sigma Ind (RR tilt): ns. PH/Ind sigma (SBP tilt): r = 0.391, p = 0.0017; PH/sigma Ind (DBP tilt): r = -0.296, p = 0.019; PH/sigma Ind (RR tilt): r = -0.308, p = 0.015, DB/sigma Ind (SBP tilt): r = 0.417, p = 0.0007; DB/sigma Ind (DBP tilt): r = 0.361, p = 0.0039; DB/sigma Ind (RR tilt): ns. Results of LS and SHG show no correlation with Ind sigma. Correlations between global autonomic score (GAS) and sigma Ind during tilting have the following values: GAS/sigma Ind (SBP tilt): r = -0486, p = 0.0001; GAS/sigma Ind (DBP tilt): r = -0.385, p = 0.002; GAS/sigma Ind (RR tilt): r = -0.411, p = 0.0009. CONCLUSIONS: The so-called sympathetic index computed from PSA are well correlated with autonomic tests. They allow an early detection of sympathetic involvement in diabetics patients. These results are to consider while managing these subjects.

Autonomic Nervous System Diseases↗
PubMed1993

[Unusual complication of venous thrombosis of the upper limb: pulmonary hypertension].

Although less frequent than that of the lower limbs, venous thrombosis of the upper limbs may cause pulmonary embolism. This embolism is usually moderate and facilitated by the delay or absence of anticoagulant treatment. We report the case of a young man who had multiple and recurrent embolism consecutive to thrombosis of the axillary and subclavian veins and who rapidly developed pulmonary arterial hypertension on previously healthy lungs. There was no venous disease of the lower limb. After a more than 2 years' period, the pulmonary arterial hypertension is still moderate, but the patient remains under long-term antivitamin K therapy, this being the only available treatment capable of preventing a deterioration that would result in post-embolic cor pulmonale and ultimately require lung transplantation.

Adult↗
PubMed1992

[Leg muscle bed syndrome: medical aspects of chronic forms].

Ninety two patients with lower leg pain of unknown cause underwent intramuscular pressure measurements by the needle technique described by Whitesides. Fifty four patients (59%) were found to have a chronic compartment syndrome. In these patients the intramuscular pressure was significantly increased at rest and after exercise as compared with normal subjects (13) and patients without the syndrome (38). Increased pressure at rest after exercise and a prolonged time for normalisation are the most commonly parameters in diagnosing chronic compartment syndrome. Tissue pressure measurement remains the basis of diagnosis for patients suffering from chronic compartment syndrome, indeed the clinical findings alone were found to be insufficient. Effective treatment consists of reduction of exertional activities or decompression by fasciotomy. The clinical results after fasciotomy were good and consistent with the findings of others.

Adult↗
PubMed1991

[Baroreflex and blood pressure variations in borderline hypertension of the young adult].

Blood pressure (BP) variability depends on external and internal factors. Among these, arterial baroreflex play an important role. The matter of this study is to assess the relationship between these two parameters in borderline hypertension (BL). Twenty six BL male hypertensive were recruited for the study, all gave informed consent. Age: 21 +/- 2 years, height: 177 +/- 8 cm, weight: 77 +/- 14 kg. An ambulatory BP monitoring was performed in each one using a Diasys (Novacor) recorder. Measurements were obtained each 15 minutes for 24 hours. Mean, standard deviation and variation coefficient (VC) of BP and heart rate (HR) were computed for 24 hours, daytime (9a.m.-7 p.m.), nighttime (11 p.m.-7 a.m.). Baroreflex sensitivity (BRS) was determined as the ratio of HR variation on systolic BP variation recorded with a Finapres device from the fourth phase of a Valsalva manoeuvre. Mean systolic and diastolic BP values for 24 hours, daytime and nighttime are: 129 +/- 11/73 +/- 13, 137 +/- 14/76 +/- 15, 114 +/- 11/69 +/- 12 mmHg. VC are: 12 +/- 3/15 +/- 3, 9 +/- 3/13 +/- 3, 10 +/- 3/13 +/- 4%. HR values are: 73 +/- 10, 84 +/- 14, 58 +/- 7 b/min, VC are: 24 +/- 5, 17 +/- 4, 17 +/- 7%. Index for BRS = 1.76 +/- 0.65%. There is no correlation between BRS and systolic BP or HR. BRS is correlated to the inverse of systolic daytime BP VC: r = -0.556, p = 0.003. There is no correlation with other parameters. This study provides evidence for a link between BRS and daytime BP variability in borderline hypertension.

Adult↗
PubMed1990

[Study of representative periods of day-time and night-time levels of blood pressure].

UNLABELLED: The aim of this study is to assess whether it is possible to shorten ambulatory blood pressure (ABP) monitoring while getting measurements that precisely reflect 24 hours and daytime blood pressure (BP). METHODS: three hundred and thirty six young male subjects aged: 21 +/- 2 y, height: 178 +/- 7 cm, weight, 75 +/- 12 kg, with normal or "borderline" BP (casual BP: 138 +/- 13/79 +/- 8 mmHg) participated in the study. BP was recorded in each, every 15 minutes on 24 hours with a Spacelabs 5200 device. Systolic and diastolic BP on 24-h, during the 9 a.m. - 8 p.m. period (daytime) and BP related to the different subperiods included between 15 minutes and 6 hours were calculated. BP values obtained from the 196 subperiods were correlated with 24-h, daytime ABP and causal BP. Results were classified according to the value of correlation coefficient, slope and intercept of regressions. RESULTS: no subperiod accurately predict 24-h systolic BP (SBP) or diastolic BP (DBP) (the best correlation are established with the subperiods: 7 p.m.-01 a.m. for SBP; r = 0.916, p less than 10(-9), y = 0.76 x + 30; and 06 a.m.-12 a.m. for DBP; r = 0.914, p less than 10(-9), y = 0.87 x + 9). Four 6 hours subperiods sampled between 09 a.m.-3 p.m. and 12 a.m.-6 p.m. predict alike and in a reasonable way the daytime BP (SBP: r = 0.971, p less than 10(-9), y = 0.94 x + 8; r = 0.973, p less than 10(-9), y = 0.91 x + 7. Best correlations with casual BP are moderate (SBP: r = 0.674, DBP: r = 0.588). COMMENTS: BP measurements of subperiods smaller or equal to 6 hours cannot accurately predict the average 24-h BP. This is related mainly to the night-time/daytime BP fluctuations. Daytime BP can be estimated with short-term monitoring but the duration must not be smaller than 6 hours.

Adult↗
PubMed1990

[Doppler evaluation of blood flow of the lower limb].

UNLABELLED: Regional blood flow measurement in the limbs (BFLL) is of special interest in order to evaluate the consequences of hypertension. The purpose of this study is to assess the interest of the Doppler ultrasound method in the BFLL measurement among normotensive or borderline hypertensives young male adults. BFLL reproducibility was evaluated among 23 healthy subjects aged 21 +/- 2 y, height 177 +/- 8 cm, weight 75 +/- 13 kg at day one (D1) and three day later (D3). Measurements were made basically after 20 minutes lying at rest and after cold pressor test (CPT). BFLL estimation depends on common femoral artery diameter (FAD) echographic measurement at the thigh root and on velocity time interval (VTI) calculation with pulsed wave doppler using controlled incident angle and sample volume. The following parameters were measured: mean arterial pressure (MAP) using Dinamap, heart rate (HR), FAD, common femoral artery cross sectorial area (A), VTI and peripheral arteriolar resistances (PAR). Basic and CPT results at D1 and D3 were compared using paired "t" test. RESULTS: [table: see text] Comparisons between basic state and CPT demonstrate a significant decrease of VTI and BFLL, a significant increase of PAR. D remained unchanged. Doppler ultrasound method is easy to use. Systolic femoral volume measurement is relatively insensitive to small transducer positioning variations so that the method reproducibility is satisfactory.

Adult↗