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R Rey

Publications and source records attributed to R Rey.

At least 55 records · Page 3Linked to original sources
PubMed1996

[Melkersson-Rosenthal syndrome. Value of reduction cheiloplasty].

INTRODUCTION: The interest of cheiloplasty is not precisely defined in the treatment of Melkersson-Rosenthal syndrome (MRS). OBSERVATION: The case of a 32-year-old woman, suffering from a typical MRS is reported. The lack of efficacy of various classical molecules (corticoseroids, hydroxychloroquine, dapsone, colchicine, clofazimine) led to a surgical therapy, consisting in cheiloplasty. Systemic corticosteroids were associated. The result was good, with a follow-up of 2 years. COMMENTS: Cheiloplasty is essentially of cosmetical interest, in the MRS, once the inflammatory process has been stopped (almost one year). Medical treatment (corticosteroids), is to be continued after surgery, to avoid recurrence.

Adult↗
PubMed1996

[Molecular biology of the persistent Müllerian duct syndrome].

The persistent Müllerian duct syndrome, characterized by the presence of uterus and tubes in otherwise normally masculinized 46,XY males, is a familial autosomal recessive disorder due to defects of synthesis or action of anti-Müllerian hormone. We have performed molecular studies in a total of 38 families and we have identified the basis of the condition, namely 16 anti-Müllerian hormone and 16 anti-Müllerian hormone receptor mutations, in 32 families.

Anti-Mullerian Hormone↗
PubMed1996

[Parasitic delirium in patient with multiorganic pathology: a complex situation].

Delusion of parasitosis is often observed in people who usually take psychoactive drugs. Moreover, it can be present in infectious diseases or tumours of the central nervous system, metabolic disorders, deficiency and states systemic disorders, such as Systemic Lupus Erythematosus (SLE). The neuropsychiatric manifestations in SLE patients are common and constitute one of the criteria for the classification of SLE. Presentation as an acute organic mental syndrome is a clinical emergency and it is usually required the admission in the hospital. We report a case of delusion of parasitosis in a middle age woman diagnosed of SLE several years before and with previous corticosteroid therapy, right temporal arachnoid cyst, chronic Lyme disease and hypothyroidism. We analyse the different role of each pathology and the clinical practice difficulties in the management of these disorders.

Arachnoid Cysts↗
PubMed1995

Testicular degeneration in three patients with the persistent müllerian duct syndrome.

UNLABELLED: The persistent müllerian duct syndrome, characterized by the presence of uterus and tubes in males, is a familial disorder due to defects of synthesis or action of anti-müllerian hormone, a Sertoli cell glycoprotein responsible for the regression of müllerian derivatives in normal male fetuses. Patients are normally virilized and testicular production of testosterone is normal. Both testes may be cryptorchid; alternatively, one may be descended into the inguinal canal or scrotum, together with the müllerian derivatives, a condition known as "hernia uteri inguinalis". We have recently observed three patients affected by the persistent müllerian duct syndrome who experienced progressive degeneration of testicular tissue. In two, functional testicular tissue was still present some months after birth, but deteriorated progressively later. In one patient, testicular tissue was already absent at birth, but the normal virilization of external genitalia indicated that testicular degeneration must have occurred late during fetal life, after the expected time of regression of male müllerian ducts. CONCLUSION: The high incidence of degeneration of testicular tissue in the persistent müllerian duct syndrome could be indirectly linked to anatomical abnormalities which could favour testicular torsion, known to induce testicular regression.

Chronic Disease↗
PubMed1995

Testicular steroidogenesis in the Cebus monkey throughout postnatal development.

There is scant information on testicular steroidogenesis during postnatal development in monkeys, particularly in New World species. Our purpose was to study the in vitro steroidogenic capacity of the Cebus monkey testis from birth to advanced puberty. Fresh testicular tissue was incubated in Medium 199 with or without hCG (10 IU/ml); and levels of pregnenolone (P5), dehydroepiandrosterone (DHA), progesterone (P4), androstenedione (A), testosterone (T), dihydrotestosterone (DHT), and 3 alpha-androstanediol (3 alpha-DIOL) were measured in tissue and incubation media by RIA. To determine the predominant steroidogenic pathway, the ratio between the concentrations of the 5-ene and the 4-ene T precursors was determined, and the relative conversion of 3H-P5 and 14C-P4 to T was calculated. The number of Leydig cells per testis was determined in all experimental groups. The testes of the Cebus monkeys could produce T in vitro without the addition of gonadotropins at all ages. T and the 5-ene precursors (P5 and DHA) were the main steroids found within testicular tissue throughout postnatal development. T content per Leydig cell increased continuously with age, but testicular T concentration reached maximal levels at early puberty and did not change thereafter. The ratios between 5-ene and 4-ene T precursors ranged between 2.8 and 13.2, which suggested a predominance of the delta-5 pathway. This was confirmed by the finding that 3H-P5 was more efficiently converted to T than was 14C-P4. The T production relative to that of its d-ene precursors progressively increased to reach maximal values in late puberty.(ABSTRACT TRUNCATED AT 250 WORDS)

Androstenedione↗
PubMed1994

Experimental Chagas' disease: electrophysiology and cell composition of the neuromyopathic inflammatory lesions in mice infected with a myotropic and a pantropic strain of Trypanosoma cruzi.

C3H/HeN mice infected with the pantropic/reticulotropic Trypanosoma cruzi RA strain disclosed electromyographic signs (EMG) of neuropathic damage, while those infected with the myotropic CA-I strain showed EMG suggestive of primary muscle involvement. Although both strains induced inflammatory infiltrates in hamstring muscles (HM), damage was more severe in mice infected with CA-I. In sciatic nerves (SN) of mice infected with the RA strain, increased inflammatory changes, amastigote nests, and myelin digestion chambers were consistently found during the course of infection. On the other hand, the CA-I strain produced minor inflammatory changes without detectable amastigotes in such tissue. The RA strain induced chronic leptomeningitis in spinal cord (SC), while infiltrates were limited to spinal roots and dorsal ganglia in animals infected with CA-I. In mice infected with RA, phenotypic analysis of inflammatory lesions showed a consistent predominance of CD8+ T cells in nervous tissue throughout the course of infection and in HM during the chronic phase whereas natural killer cells were detected at 120 and 270 days pi. In mice infected with CA-I, a predominance of CD8+ cells in SN was only detected during the acute phase and in HM during the late chronic phase; B lymphocytes bearing surface IgM were present in all studied tissues at 270 days pi. In addition, positive fluorescence for mouse IgG was observed at 120 days pi in muscle interstitium. These results strongly suggest that T. cruzi strain-dependent mechanisms are involved in the development of neuromyopathic damage.

Animals↗
PubMed1994

Molecular genetics of the persistent müllerian duct syndrome: a study of 19 families.

A rare form of familial male pseudohermaphroditism, the persistent Müllerian duct syndrome (PMDS) is characterized by persistence of uterus and Fallopian tubes in 46,XY phenotypic males and is ascribed to defects in the synthesis or action of anti-Müllerian hormone (AMH). Biologically, PMDS is heterogeneous: in some cases, bioactive AMH is normally expressed by testicular tissue while, in others, no AMH is produced, suggesting the possibility of an AMH gene mutation, several of which have already been described. Molecular analysis of the AMH gene has now been performed in 21 additional patients and their families. In 6 patients, with normal serum concentration of AMH, the AMH gene was normal or contained only polymorphisms and silent mutations, supporting the hypothesis that the condition is due to end-organ resistance. Nine novel mutations were discovered in the remaining subjects, with low or undetectable levels of serum AMH. These mutations, when present in homozygotes or compound heterozygotes, were associated with the PMDS phenotype, the same mutation never being observed in two different families. The three first exons of the AMH gene appear particularly mutation-prone, although they are less GC rich than the 2 last ones and code for the N-terminal part of the AMH protein, which is not in itself essential to bioactivity.

Anti-Mullerian Hormone↗
PubMed1994

Anti-müllerian hormone in children with androgen insensitivity.

Anti-Müllerian hormone (AMH), also called Müllerian inhibiting substance or factor, is secreted in high amounts by the immature Sertoli cell; it is negatively regulated by testosterone at puberty. In the present study, we measured serum AMH in 20 patients with defects of androgen synthesis or action: 9 with complete androgen insensitivity syndrome, 9 with a partial form, 1 patient with 3 beta-hydroxysteroid dehydrogenase deficiency, and 1 with Leydig cell agenesis. AMH was also determined in 15 control patients with idiopathic male pseudohermaphroditism. The serum AMH concentration was elevated in all testosterone-insensitive or -deficient patients compared with control levels during the first year of life. From 1 yr of age to the onset of puberty, serum AMH levels in patients with androgen insensitivity returned to normal values, but after pubertal development began, AMH levels again rose to extremely high levels in the complete androgen insensitivity syndrome. These results suggest that AMH is negatively regulated by testosterone not only at puberty, but also during the postnatal period. An elevation of serum AMH appears to be an interesting marker of androgen resistance or defect of androgen production in sexually ambiguous male infants.

Adolescent↗
PubMed1994

[Not Available].

Explore the source record for details and available documents.

History, 19th Century↗
PubMed1994

[Antimullerian hormone in clinical human applications].

Anti-Müllerian hormone (AMH) is synthesized by immature Sertoli cells and by postnatal granulosa cells. Assay of serum AMH is useful in clinical situations to search for the presence of testicular tissue or to assess its functional value before puberty. At the time of puberty, serum levels of AMH decrease dramatically, a negative correlation has been demonstrated between AMH and testosterone serum levels. AMH assay is also useful in a rare form of male pseudohermaphroditism, characterized by the persistence of uterus and tubes in an otherwise normally virilized patient. AMH levels are undetectable or severely decreased in the case of a mutation of the AMH gene itself. In contrast, the concentration of serum AMH is normal if the syndrome is due to an insensitivity of AMH target organs.

Adolescent↗
PubMed1994

[Persistent müllerian duct syndrome (males with uterus): a pediatric problem].

BACKGROUND: The persistent müllerian duct syndrome (PMDS) is characterized by the persistence of the uterus and Fallopian tubes in otherwise normally virilized boys. Its diagnosis is usually made during a surgical procedure for inguinal hernia or cryptorchidism. We report six recent cases of PMDS, in which we have studied anti-Müllerian hormone (AMH) serum levels. CASE REPORTS AND METHODS: Six boys including three brothers were operated on for cryptorchidism or inguinal hernia. Surgical exploration showed persistence of the uterus and Fallopian tubes in patients having normal 46, XY karyotype and male gonads. The AMH serum levels were measured by Elisa and the AMH gene by single strand conformation polymorphism of PCR products. RESULTS: The three brothers showed a mutation in the AMH gene which leads to the replacement of leucine by proline at position 70 and to a defect in AMH production. In two other patients, serum AMH values were normal, no mutation on the AMH gene was found, and end-organ insensitivity was suggested to explain the persistence of müllerian derivatives. In the last patient, although AMH serum levels were very low due to a progressive degeneration of testicular tissue, molecular analysis of the AMH gene suggested that end-organ resistance might be the cause of the persistence of müllerian ducts. CONCLUSION: PMDS is not extremely rare. Many diagnostic mistakes are made which could be prevented by performing pelvic or inguinal ultrasonography before surgical treatment of bilateral cryptorchidism or irreducible inguinal hernia. Prognosis depends upon the integrity of the testicular tissue, sometimes compromised for yet unexplained reasons, and upon the successful correction of cryptorchidism, which is complicated by the close anatomical relationship between the vasa deferentia and the Müllerian derivatives.

Adolescent↗
PubMed1993

Anti-müllerian hormone and testosterone serum levels are inversely during normal and precocious pubertal development.

Anti-Müllerian hormone (AMH), also called Müllerian inhibiting substance or factor, is produced by Sertoli cells from fetal life until puberty. In the present study, AMH, testosterone (T), LH, and FSH were measured by immunochemical methods in the serum of 50 boys with normal or delayed pubertal development, 4 patients with suspected androgen insensitivity, and 11 patients with either central (CPP) or gonadotropin-independent (GIPP) precocious puberty to investigate the hormonal regulatory mechanisms of AMH secretion at puberty. An inverse relationship between AMH and T levels was demonstrated. In boys with normal or delayed puberty with T concentrations below 6.7 nmol/L, AMH values were elevated (mean +/- SEM, 22.4 +/- 3.1 micrograms/L) and widely dispersed. In subjects with T levels over 6.7 nmol/L, AMH levels were uniformly low (3.4 +/- 0.5 micrograms/L), except in patients with suspected androgen insensitivity. No significant relationship was found between AMH and gonadotropin levels. Similar results were obtained in patients with either CPP or GIPP. Longitudinal studies were performed on four boys with CPP and two with GIPP before and after treatment. At the time of diagnosis, the T concentration was high, and AMH levels were usually low in CPP and GIPP patients alike. When appropriate treatment was initiated, the T concentration was normalized within 2-4 weeks, but restoration of prepubertal AMH levels required several months. Mature Sertoli cells were observed in testicular biopsies performed in three patients with untreated GIPP. Our results suggest that gonadotropins are not directly implicated in repression of AMH synthesis at puberty, but, rather, that the decrease in AMH production is the consequence of an androgen-mediated, long term, reversible chain of events leading to morphological and functional maturation of the Sertoli cells. Thus, the fall in serum AMH levels appears to be an excellent marker of Sertoli cell pubertal development.

Adolescent↗
PubMed1992

Isolation of human Leydig cell mesenchymal precursors from patients with the androgen insensitivity syndrome: testosterone production and response to human chorionic gonadotropin stimulation in culture.

Mature Leydig cells, the main source of testicular testosterone in mammals, arise from immature mesenchymal precursors through an LH-dependent differentiation process. In order to study the steroidogenic potential of these precursors, undifferentiated mesenchymal cells were obtained from the testicular interstitium of two patients with androgen insensitivity syndrome. After double digestion with collagenase and separation of the suspensions in a Percoll density gradient, the cells were cultured in Ham's F12 medium: Dulbecco's Modified Eagle Medium (1:1) supplemented with antibiotics, transferrin, insulin, hydrocortisone, and vitamin E with or without 1 IU of hCG/ml. At 11 days in culture, samples were removed for morphological characterization and determination of 3 beta-hydroxysteroid dehydrogenase activity (3 beta-HSD). Testosterone concentration was determined by RIA in the culture medium at different intervals. Cultured cells were mesenchymal in appearance, elongated in shape, with numerous processes running in different directions. No mature Leydig cells were present. In basal conditions, the percentages of 3 beta-HSD-positive cells at 11 days on patients 1 and 2 were 33% and 28%, respectively, and the testosterone concentrations in the culture media were 4.8 and 8.4 ng.10(6) cells.24 h, respectively. In cultures stimulated with hCG, there was an increase of histochemical reactivity (47% and 42% in patients 1 and 2, respectively) and in the amount of testosterone secreted (10.2 and 12.0 ng.10(6) cells, respectively). Electron microscopic studies of cultures grown in the absence of hCG demonstrated a homogenous population of poorly differentiated, fibroblastic-type mesenchymal cells.(ABSTRACT TRUNCATED AT 250 WORDS)

3-Hydroxysteroid Dehydrogenases↗
PubMed1991

The distal radioulnar ligaments: a biomechanical study.

The mechanical roles of the triangular fibrocartilage have been examined in three experiments. Kinematic analysis by a stereophotogrammetric method revealed that the palmar radioulnar ligament was taut in supination and that the dorsal radioulnar ligament was taut in pronation. In full pronation, the palmar radioulnar ligament decreased to an average of 71% of its length in tension. In full supination, the dorsal radioulnar ligament decreased to an average of 90% of its length. Mechanical testing of the triangular fibrocartilage under axial load disclosed a significant laxity (mean: 10.4 mm), which was decreased in pronation. Transverse loading tests demonstrated that the triangular fibrocartilage is less stiff in neutral forearm rotation. Study of the material properties of the palmar and dorsal parts of the triangular fibrocartilage showed these structures to be strong ligaments with material properties similar to those of the radiocarpal ligaments.

Biomechanical Phenomena↗