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Biomedical subjects

G Vallone

Publications and source records attributed to G Vallone.

At least 19 recordsLinked to original sources

Endocrine dysfunction in patients with Fabry disease.

BACKGROUND: Fabry disease (FD) is a genetic disorder caused by lysosomal alpha-galactosidase-A deficiency and is characterized by the systemic accumulation of globotriaosylceramide. All endocrine glands are susceptible to globotriaosylceramide accumulation because of their high vascularization and low cellular proliferation rate. Nevertheless, this endocrine system has never been investigated in detail. OBJECTIVE: We aimed to investigate the function and morphology of the endocrine glands in FD. PATIENTS: The thyroid, gonadal, adrenal, and GH/IGF-I axes were evaluated in 18 FD patients (nine females and nine males, aged 21-64 yr) and 18 sex- and age-matched healthy subjects. STUDY DESIGN: We conducted an observational, analytical, open, prospective study. INTERVENTIONS: Ten of the 18 patients received enzyme replacement therapy (ERT) with recombinant human alpha-galactosidase-A (agalsidase beta) at a dose of 1 mg/kg body weight every 2 wk. RESULTS: FD patients had higher baseline TSH levels than controls (P < 0.01). Three subjects were diagnosed with an early stage of subclinical primary hypothyroidism associated with negative antithyroid antibodies. A history of menses abnormalities, miscarriage, or assisted delivery was found in 89% of FD women. Asthenozoospermia, oligozoospermia, or both were found in all FD men through seminal fluid analysis. FD patients had significantly higher circulating ACTH and lower cortisol levels than controls (P < 0.05). In patients under ERT, a suboptimal cortisol response to the 250-microg ACTH test was found in 10%, and the ACTH-stimulated cortisol peak was significantly correlated to the health status profile (P < 0.05). CONCLUSION: A variety of latent endocrine dysfunctions, including life-threatening conditions, occur in patients with FD. Endocrine dysfunctions are also present in patients already receiving ERT and are in part related to their persistent poor quality of life. An endocrine work-up should be recommended in all FD patients. Adequate monitoring and hormonal therapy, when required, have to be performed in cases of subclinical endocrine dysfunction to avoid life-threatening events.

Adrenal Gland Diseases↗

The acromegalic arthropathy.

Since the initial definition of acromegaly over 100 yr ago, extraordinary efforts have been made to control GH levels and the pituitary tumor. Criteria of cure have been evolving constantly and all previous statements should be revised according to modern criteria of disease control. Arthropathy is undoubtedly the most important cause of morbidity and functional disability of acromegaly, and bone alterations are highly characteristic of this syndrome. They involve theoretically all bones and, particularly, the appendicular and the axial skeleton. Radiographic changes at different joint sites are more common than symptoms related to their involvement. There is a progression in the acromegalic arthropathy, resembling that described for the acromegalic cardiomyopathy or for the acromegalic features at other organs, such as thyroid, breast and prostate. At early stage, cartilage hypertrophy predominates, and then degenerative changes start until osteoarthritis features occur. Arthropathy can be reversed by normalizing GH and IGF-I levels only at the initial stage. If the disease is left untreated for long time, the osteo-articular sequelae cannot be modified by any treatment of acromegaly.

Acromegaly↗

Presence and indigenous nature of Lyme disease in southern Italy.

Lyme disease is very common in the countries of the northern hemisphere. In Italy it is endemic in some regions of the northern part of the country and it is more frequent during summer. In Calabria (south Italy) no cases have been reported. To document the presence and indigenous nature of Lyme disease in this territory we conducted a study from 1999 to 2002. We defined as indigenous cases those with erythema migrans with the following characteristics: dimensions equal to or greater than 5 cm; localization on an area of the skin where there was a tick bite; appearance between 4 and 30 days after the tick bite; appearance in patients who had not resided out of Calabria in the previous 3 months. We found 23 patients with the necessary characteristics to be defined indigenous cases. Since 15 of these cases (65.2%) were observed in the October - December trimester and no case was found in the July - September trimester, we suspect that in Calabria the disease follows a seasonal distribution which differs with respect to countries where it is historically endemic.

Adolescent↗

[Role of flowmetric analysis and of color-Doppler ultrasonography with contrast media in the different phases and follow-up of Graves' disease].

PURPOSE: The objectives of this study were: 1) to evaluate the role of color-Doppler ultrasonography (CDU) assessment of thyroid vascularity, measuring the peak systolic velocity (PSV) at the level of the inferior thyroid artery, and the intrathyroid vascularization in Graves' diseas; 2) to evaluate the role of contrast agent administration in predicting the relapse of hyperthyroidism or the biological activity of the disease after withdrawal of antithyroid drugs. PATIENTS AND METHOD: The study included 74 Graves' patients (59 F/ 15 M; mean age 45 years; range 23-71). Graves' disease was diagnosed according to the usual clinical and laboratory criteria. On the basis of the clinical and biochemical findings we divided Graves' patients into 4 different groups. Treatment was continued for at least 12 months, CDU examination was carried out after discontinuing therapy. Eight patients showed a relapse of hyperthyroidism within 5 months after suspension of therapy. In all cases the evaluation of intraparenchymal vascularization and PSV at the level of the inferior thyroid artery in basal conditions was followed by administration of contrast agent (Levovist, 300 mg/ml), with slow infusion (<2 ml/min) to avoid blooming artifact. Intraparenchymal vascularization was classified into 4 patterns according to Vitti et al. RESULTS: The value of the peak systolic velocity (PSV) at the level of the inferior thyroid artery was the best predictor of relapse. A value higher than 40 cm/sec was present in all the patients that showed relapse and only in two patients with stable remission. Administration of contrast agent is important to evaluate the biological activity of the disease. In the 5 patients exhibiting slightly increased vascularization after contrast agent administration we could assume the clinico-pathological recovery. CONCLUSIONS: CDU study of thyroid vascularization, based on the measurement of PSV at the level of the inferior thyroid artery and on the response to contrast agent administration is useful to distinguish three groups of patients: A) PSV >40 cm/sec with pattern III for at least 10 minutes from the beginning of the contrast agent administration (High risk of relapse); B) PSV <40 cm/sec with pattern II or III after contrast agent administration (Biological activity of the disease-Thyroiditis); C) PSV <40 cm/sec with Pattern I after contrast agent administration (Poor biological activity of the disease-recovery).

Adult↗

Laparoscopic orchiopexy without division of the spermatic vessels: can it be considered the procedure of choice in cases of intraabdominal testis?

BACKGROUND: Several surgical procedures have been described for the management of nonpalpable testis. Following a vast experience with a complete laparoscopic two-stage Fowler-Stephens procedure, we report our experience with laparoscopic orchiopexy performed without dividing the spermatic vessels. METHODS: Over a 24-month period, 70 boys with nonpalpable testes (72 overall) underwent laparoscopic diagnostic exploration. Twenty patients (27.8%) of this series who showed an intraabdominal testis underwent laparoscopic orchiopexy without sectioning the spermatic vessels. In seven cases, the testis was just proximal to the internal inguinal ring; in 13, it was in the high intraabdominal position. The technique consisted in sectioning the gubernaculum (when present), opening the peritoneum laterally to the spermatic vessels, and mobilizing the testicular vessels and the vas deferens in a retroperitoneal position for 8-10 cm. The testis was then brought down into the scrotum through the internal inguinal ring (11 cases), if this was open, or through a neo-inguinal ring (nine cases) created medially to the epigastric vessels. In every case, we closed the inguinal ring at the end of the operation using one or two detached sutures. RESULTS: Operating time ranged between 40 and 75 min (median, 55). All the testes were successfully brought down into the scrotum. We had only one (5%) intraoperative complication. In the second patient treated with this procedure, there was an iatrogenic rupture of the spermatic vessels due to excessive traction. CONCLUSION: On the basis of our experience, we believe that laparoscopic orchiopexy without division of the spermatic vessels should be the treatment of choice in the management of nonpalpable testes, because it does not affect normal testicular vascularization and is minimally invasive. A blunt dissection and a delicate manipulation of the testis without excessive traction are the best ways to avoid any kind of complication.

Child↗

[Echographic evaluation of the thymus gland in childhood].

INTRODUCTION: The thymus is a linphoepithelial organ located mostly in the anterior mediastinum and, for a smaller part, in the neck. The gland is particularly developed in the fetus and in children, while it shrinks in young adults following an involution process. We investigated the US appearance of the thymus in normal pediatric subjects to gather information for use in pediatric patients with suspected thymus conditions, using a safe, irradiation-free, technique. MATERIAL AND METHODS: We performed a US examination of the anterior mediastinum and the neck in 30 children (14 males and 16 females) ranging in age 6 months to 11 years. We used a Sonora LOGIC 700 MD General Electrics unit with 7.5-13 MHz linear probes and acquired transverse and longitudinal scans on the chest wall and the neck, integrated with intercostal scans. RESULTS: The thymus had the same echogenicity as the liver parenchyma in 22 children (73.3%), lower echogenicity in 2 (6.6%, age range 6-12 months) and higher echogenicity with heterogeneous structure in 6 children (20%, age range 8-11 years). The gland was in central and symmetric localization in 20 children (66.6%) while it exhibited a slight deviation leftwards in 7 (23.3%) and rightwards in 3 children (10%). We considered as normal the following values: in the right lobe, 1.4 cm for the AP diameter and 2.5 cm for the longitudinal one; in the left lobe, 1.4 cm for the AP diameter and 2.9 cm for the longitudinal one. DISCUSSION AND CONCLUSION: Radiological studies of the thymus are really difficult to perform because the gland is extremely variable in size, extension and shape. The thymus has the same echogenicity as the liver parenchyma and lower echogenicity than the thyroid parenchyma. We believe that US is an effective technique for studying the thymus in all its involution stages and that provides similar information to CT and MRI. Also, US does not use radiations and needs no sedation, which improves safety for young patients.

Child↗

Ultrasonographic evidence of joint thickening reversibility in acromegalic patients treated with lanreotide for 12 months.

BACKGROUND: A major cause of morbidity and functional disability in acromegaly is represented by axial and peripheral arthropathy. OBJECTIVE: The effect of a 12-month treatment with lanreotide (LAN) on arthropathy in 12 untreated acromegalic patients has been evaluated. Twelve healthy subjects served as controls. STUDY DESIGN: Open prospective. STUDY PROTOCOL: Articular cartilage thickness of shoulder, wrist and knee, as well as the size of the heel tendons, was measured by ultrasonic (USG) examination before, monthly for the first 3 months and quarterly thereafter, during treatment with 60-90 mg/month of LAN. The achievement of safe GH and IGF-I levels was considered when fasting GH was below 5 mU/l and IGF-I levels were normalized for age. RESULTS: Before treatment, thickening of shoulder, wrist and knee cartilages, and of heel tendons, was found in all patients compared with controls (P < 0.01). During the first 3 months of LAN treatment, a significant decrease in circulating GH (from 86.8 +/- 19.8 to 25.6 +/- 9.8 mU/l) and IGF-I levels (from 624 +/- 47.8 to 412.2 +/- 44.5 microg/l) was observed. Overall, a slight decrease was noted in all the articular sites examined, but it reached statistical significance only at the right shoulder (P < 0. 001). However, a notable improvement of joint pain and active and passive articular mobility were recorded in all patients, as well as of weakness, soft tissue swelling, hyperhydrosis and headache. After 6 months of LAN treatment, a further significant decrease was observed at the level of the right shoulder (P < 0.01) and the right knee (P < 0.01). Eight patients achieved safe GH and IGF-I levels. After 12 months of LAN treatment, a significant decrease was observed at the level of all the articular sites examined (P < 0.01), as well as at the level of both heel tendons (P < 0.01). Safe GH and IGF-I levels were achieved in all but one of the patients who, similarly, had a significant decrease in shoulder, wrist and both heel tendon thicknesses. The thickness reduction of right shoulder cartilage, a non-weight-bearing joint, was significantly greater than that observed at the level of the right and left knee cartilages and heel tendons (37.4 +/- 4.4% vs. 18 +/- 6.1%, 19.3 +/- 4.4%, 16.5 +/- 4.2%, and 13.7 +/- 5.5%, respectively, P < 0.01). No difference was found in thickness decrease of all sites examined between the eight patients achieving safe GH levels after 3-6 months, and the remaining four patients, or between patients with estimated disease duration below (n = 6) or above 10 years (n = 6). CONCLUSIONS: Improvement in articular and periarticular soft tissue hypertrophy of the shoulder and wrist, two non-weight-bearing joints, but also of the knees, two weight-bearing joints, and heel tendons, was obtained by suppressing GH and IGF-I levels for 12 months with LAN treatment, although complete reversal of joint thickening was not achieved. Since no difference in the response to treatment, in terms of joint size decrease, was found between patients with short or long disease duration, treatment longer than 12 months may be needed to reverse the acromegalic arthropathy completely.

Acromegaly↗

[Duplication of the vena cava inferior with a continuation into the vena azygos. A report of a rare case].

The embryogenesis of the inferior vena cava is a complicated process involving development, regression, anastomosis and replacement of three pairs of venous channels (posterior cardinal, subcardinal and supracardinal). A rare case of concurrent duplication and azygos continuation of the inferior vena cava is presented; it is caused by an altered development of subcardinal and supracardinal venous channels. This anomaly, without other congenital malformations (splenic or cardiac), has been previously described only in six cases in the literature. In this case contrast-enhanced CT enabled the correct diagnosis to be made. The subsequent cavography confirmed the CT report.

Azygos Vein↗

[An update of B-mode echography in the characterization of nodular thyroid diseases. An echographic study comparing 7.5 and 13 MHz probes].

PURPOSE: We investigated B-mode US capabilities in diagnosis and characterizing thyroid nodules and compared our personal findings with those of the few analytical studies in the literature. We also compared the diagnostic accuracy of conventional 7.5 MHz versus more recent 13 MHz transducers. MATERIAL AND METHODS: We examined 136 consecutive patients with a single thyroid nodule: they were 97 women and 39 men, age ranging 15-87 years (mean: 37.4). The patients were submitted to scintigraphy and laboratory tests first and then to US, fine-needle biopsy and/or histologic examination. The final diagnosis was made at cytology and/or histology: we had 98 follicular hyperplasias, 20 follicular adenomas and 18 carcinomas. We studied the presence/absence of the halo sign, cystic portions, microcalcifications; nodule margins and echogenicity relative to the thyroid gland were also studied. RESULTS: The presence of microcalcifications had the highest specificity for malignancy. The sensitivity of this parameter was higher with 13 MHz than with 7.5 MHz transducers. Relative to microcalcifications, absence of cystic portions and irregular margins, 13 MHz US had 64.7-89% accuracy. The halo sign and lesion echogenicity did not permit a reliable differential diagnosis between benign and malignant nodules with both 7.5 and 13 MHz transducers. The association of microcalcifications and irregular margins had the highest accuracy, scoring 86% at 7.5 MHz and 90.5% at 13 MHz. CONCLUSIONS: High frequency US is a sensitive tool for diagnosing thyroid nodes. Accurate analysis of the US signs can suggest the benign/malignant lesion nature, which must be integrated with color, power and pulsed Doppler findings.

Adolescent↗

Reversibility of joint thickening in acromegalic patients: an ultrasonography study.

Axial and peripheral arthropathy affects the majority of patients with acromegaly, being a leading cause of morbidity and functional disability. Treatment with octreotide (OCT) improves symptoms and signs of acromegalic arthropathy, but objective detection of structural changes in bone and cartilage has not been reported to date. This open prospective study was designed to evaluate the effect of a long term treatment with OCT on acromegalic arthropathy assessed by ultrasonography examination. Articular cartilage thicknesses of shoulder, wrist, and knee as well as sizes of heel tendons were measured in 30 acromegalic patients (18 with active and 12 with inactive disease) and 18 sex-, age-, and body mass index-matched healthy subjects. The thicknesses of shoulder, wrists and knees articular cartilages and that of heel tendons were significantly increased in patients with active acromegaly compared to those in healthy subjects (P < 0.01). With the exception of shoulder cartilage, significant increases in wrist and knee cartilages (P < 0.01) and right and left heel tendon sizes (P < 0.05) were found in patients with active compared to those with inactive disease. After 6 months of OCT treatment, a significant decrease in shoulder, wrist, and left knee articular cartilage was found (P < 0.001). No significant change was recorded in right knee cartilage or heel tendon size. The decrease in thickness of shoulder and wrist cartilages was more pronounced than that measured at the level of left knee (26.3 +/- 3.3% and 27.2 +/- 4.2% vs. 14.2 +/- 4.2%, respectively; P < 0.05). Ultrasonography is able to reveal articular involvement in acromegalic patients and may be useful to monitor the effect of treatment.

Acromegaly↗

[Integrated study of fecal incontinence with defecography, anal ultrasonography, perineography, and manometry].

INTRODUCTION: Imaging methods such as defecography, anal US and perineography, combined with manometry, now permit to identify a growing number of causes of anorectal and pelvic floor deficiency. Fecal incontinence patients can thus be approached correctly relative to both diagnosis and treatment. We investigated the role of these techniques in the work-up of fecal incontinence. MATERIAL AND METHODS: Thirty-eight subjects suffering from fecal incontinence were examined. Defecography was carried out with a special commode and videorecorded on a VHS cassette. Anal US was performed with a 7-MHz rotating probe (type 1846) with 3-cm focus length. Perineography was carried out in 15 female patients. RESULTS: The anorectal angle (ARA) at rest was increased (mean: 106 degrees; normal range: 90-100 degrees) in 34 cases; involuntary barium leakage was seen in 8 patients, especially on coughing. On squeezing, ARA was normal in 10 cases (mean: 72 degrees; normal range: 60-90 degrees); in 5 cases of puborectal hypotonia there was no angular excursion between rest and squeezing (mean: 105 degrees). During evacuation, the average ARA value was 166 degrees in 21 cases and ARA stretched to verticalization in 8 cases (mean: 179 degrees). Morphofunctional anorectal changes appeared as rectal mucosal prolapse (12 cases), rectocele (10 cases), perineal descent syndrome (8 cases) and external rectal prolapse (3 cases). Anal US identified 15 interruptions in sphincterial rings: 12 patterns were hypoechoic, 2 mixed and 1 hyperechoic. Atrophic thinning of internal anal sphincter was seen in 5 idiopathic incontinence patients. Perineography demonstrated cystocele in 5 cases and cystourethrocele in 1 case. Manometry showed sphincterial hypotonia at rest in 15 cases, lower values of anorectal pressure on squeezing in 8 and smaller air volumes inhibiting external sphincterial tone in 19 cases. CONCLUSIONS: Defecographic studies with evaluation of ARA and its changes are an important tool with high diagnostic yield. When combined with other techniques, they provide differential criteria for sphincterial and puborectal causes and permits to identify associated pelvic floor dysfunctions. We believe that defecography, anal US (and perineography in complex disorders) are necessary techniques for the correct clinical approach to fecal incontinence patients, whose role and diagnostic yield are a valid support to manometry.

Adult↗

[Normal value of the tracheal bifurcation angle and correlation with left atrial volume].

PURPOSE: We evaluated the mean value and the variability range of the tracheal bifurcation angle by patient gender, age, height, weight, build, body area and max transverse diameter of the chest under normal conditions. We also evaluated tracheal bifurcation angle changes in orthostatism and recumbency, as well as in the different respiratory phases. Finally, we investigated the statistical correlation between the tracheal bifurcation angle value and the left atrial volume, to eventually derive either value from the other. MATERIAL AND METHODS: We reviewed 700 high-voltage radiographs of the chest performed in 500 patients with normal echocardiographic findings from 1986 to 1990. To analyze the relationships with the left atrium, 100 patients with echocardiographically enlarged atrium were submitted to high-voltage radiography. The tracheal bifurcation angle was measured directly. RESULTS: Mediastinal radiographs nearly always depict the trachea and extraparenchymal bronchi adequately. The tracheal bifurcation angle should be measured continuing and joining the upper and lower parabronchial contours. A 4-degree deviation is accepted between the upper or interbronchial and lower or carinal angles since the angles formed by parallel segments have the same value. Under normal conditions the absolute mean value of the tracheal bifurcation angle was 79.7 degrees and the range 37-105 degrees. DISCUSSION AND CONCLUSIONS: In normal patients the mean value of the tracheal bifurcation angle: is independent of age and gender; depends on build; is related to the max transverse diameter of the chest and to body area; exhibits no major radiographic changes in orthostatism versus recumbency; exhibits no major radiographic changes in expiration versus inspiration; is correlated with left atrial volume, but the value is not statistically significant.

Adolescent↗