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Biomedical subjects

A Monaco

Publications and source records attributed to A Monaco.

At least 55 records · Page 3Linked to original sources

Testicular feminization syndrome diagnosed in an elderly patient at surgery. A case report.

A case of Morris' syndrome in which the diagnosis has been realized only in old age is reported. A 69 year-old patient, with female external genitalia and secondary sexual characteristics, was referred to us with a diagnosis of a mass in the right inguinal region. Her personal history was based on a primary amenorrhoea, which was unsuccessfully investigated since she was adolescent. At the age of 63, during surgery for a left inguinal hernia realized in another hospital, a testis-like mass with the spermatic cord was casually found. During our hospitalization, a surgical removal of the right inguinal mass was performed, and the histologic examination showed the presence of a dominant sclerohyalin testicular tissue without evidence of seminal epithelium and sparse focuses of Leydig cells hyperplasia. Besides, the determination of gonadotropins and sex hormones yielded an increased production of LH, FSH, estradiol, testosterone and androstenedione. A cytogenetic analysis showed a 46, XY karyotype. The diagnosis realized only in old age has compelled the patient to live all her life, from sexual maturity, with indecision and doubt, and without a clinical explanation of fundamental utility even from the psychological point of view. Finally, in our patient the absence of cytologic aspect of malignant transformation in the removed testes in a six years period, seem fortuitous. It is always necessary to consider Morris' syndrome among the possible diseases causing primary amenorrhoea in the clinical evaluation of young phenotypic female patients.

Aged↗

[Globulomaxillary cysts].

Globulomaxillary cyst is a non odontogenic cyst arising in the upper lateral incisor and canine region. Evaluation of clinical picture and careful histologic examination are essential for distinguishing it from other odontogenic and non odontogenic cystic growths. Presenting five new cases of globulomaxillary cysts, authors discuss and accept the "fissural" histogenetic hypothesis.

Cuspid↗

[Tuberculosis and immigrants. A study of its prevalence in the Umbria region].

In 1995, 463 patients were admitted in the medical service of Perugia (Sanitary District n. 6). Only 20% of them were enrolled in the TBC programme. Mantoux was: < 10 mm in 35%, 10-15 mm in 25%, > 15 mm in 40%. Chest Rx in 30 subjects demonstrated: normality in 19; old TBC in 7, active TBC in 4 (miliary, bilateral upper lobe pneumonitis, left subapical upper lobe pneumonitis and right lobitis of the upper lobe). All patients were admitted in hospital and showed positive sputum culture for Mycobacterium Tuberculosis. They were treated with isoniazid, rifampin, pyrazinamide, ethambutol/streptomycin for 2 months and with isoniazid, rifampin for other 4-8 months. Two patients showed Mycobacterium tuberculosis with isoniazid resistance. Seven patients were treated with isoniazid chemoprophylaxis without side effects. Migrants should receive information about health care service and be encourage to register themselves with a general practitioner. Skin test screening and chest radiographs for those with positive results should be provided at a convenient location.

Adolescent↗

[Single-center experience with the Palmaz-Schatz intracoronary stent: the immediate results and medium- and long-term follow-up].

The recent implantation of intravascular devices (stents), during percutaneous transluminal coronary angioplasty (PTCA), has shown favourable results, decreasing acute occlusion and restenosis during follow-up as compared to PTCA alone. The aim of the study was to assess in a single center the efficacy of the implantation of a Palmaz-Schatz stent in a homogeneous group of patients and to assess the incidence of angiographic restenosis. Fifty-four consecutive patients (mean age 57 +/- 12 years) with single vessel coronary disease at angiography and with objective evidence of myocardial ischemia were studied. According to the duration of angiographic follow-up, patients were divided into two groups: Group I (mean 6 +/- 3 months) and Group II (mean 29 +/- 5 months). Stent implantation was performed electively in 43 patients (80%) while in the remaining 11 (20%) as "bail out" in a failed PTCA. Sixty-five stents were implanted in 54 patients of whom 1 stent in 47 patients (87%), 2 stents in 3 patients (6%) and 3 stents in the remaining 4 patients (7%). The stents were placed in the anterior descending of the left coronary artery in 32 patients (59%), left circumflex coronary artery in 8 patients (15%) and right coronary artery in 14 patients (26%). Mean diameter stenosis before stent implantation was 88 +/- 6% and decreased significantly to 4 +/- 7% after stent implantation (p < 0.0001). No major complications such as death, Q wave myocardial infarction, emergency coronary artery bypass graft or stroke occurred during the procedure. Minor complications such as wrong positioning of the stent, non occlusive acute thrombosis, non Q wave myocardial infarction and transient vessel occlusion occurred in 9% of treated patients. At follow-up, in Group I, 8 patient of 43 (18%) showed a > or = 50% restenosis and 10 patients < 50% restenosis; in the remaining 25 patients no variations in the caliber of the vessel were observed. In Group II, 2 patients of 11 (18%) showed a > or = 50% restenosis and 1 patient < 50% restenosis; in the remaining 8 patients no variations in the caliber of the vessel were observed. Complications during medium and long-term follow-up included total vessel occlusion in 1 patient. In conclusion, these data confirm that the Palmaz-Schatz stent may be implanted with high success and low complication rate. The percentage of restenosis, occurring in near 20% of the cases, remains an unresolved problem, despite the implantation of such intravascular devices.

Adult↗

[Emergency abdominal surgery in the aged].

The results of 93 elderly patients, subdivided in two age groups (> 65 < 80 years; > 80 years), undergoing abdominal surgery in immediate or delayed emergency over the past five years are reported. The overall morbility was 47.3% (48 complications in 44 patients); among the complications, sepsis was the first factor in frequency in either group (group I: 28.1%, group II: 17.2%), and was reported mostly in patients with associated diseases (group I: 61.1%, group II: 60%). Overall mortality was 16.2% (group I: 15.6%, group II: 17.2) related to 15 patients; among them, 10 had associated diseases (66.6%). The authors try to identify risk factors and their influence in prognosis and propose a multidisciplinary approach in the pre and postoperative period.

Abdomen↗

The impact of oral contraception on vulvovaginal candidiasis.

To evaluate risk factors related to sociodemographic and clinical variables, oral contraception and sexual behavior of women with recurrent vulvovaginal candidiasis, we conducted a case-control study comparing 153 patients with recurrent vulvovaginal candidiasis with both asymptomatic women with negative vaginal cultures and patients with nonrecurrent symptomatic vulvovaginal candidiasis. In logistic regression analysis, patients with recurrent Candida vaginitis were more likely than negative controls to have used any contraceptive method in the year before evaluation, to have used antibiotics in the month preceding the visit, and to have a higher number of lifetime sex partners. Compared to patients with nonrecurrent Candida vaginitis, patients with recurrent infection were more likely to use oral contraception and to have a higher frequency of monthly intercourse. The proportion of recur rent disease attributable to the pill averages 11-12%. We conclude that oral contraceptives may influence the recurrence of symptomatic vulvovaginal candidiasis.

Adolescent↗

[Unusual presentation of bilateral ureterocele in an adult Black male. Clinical case].

Ureterocele is a congenital urinary abnormality characterized by the presence of an intra-bladder hernia or cystic ballooning of the lower end of a ureter between the mucosa and muscle of the bladder. The abnormality leads to urinary retention and recurrent urinary tract infection which can cause irreversible damage to the kidney. Antenatal ultrasound diagnosis of ureterocele is possible but remains difficult. The disease is confirmed during radiologic examination after birth, and renal function is assessed by 99mTc-DMSA. Ureterocele, while not an uncommon pediatric urologic problem, has been reported only rarely in adults. It is bilateral in 10% of cases, is rare in black people, and requires thoughtful management decisions. A relatively uncommon case of bilateral ureterocele with single ureter, associated with left vesicoureteral reflux, in African black man is reported. The patient was investigated by ultrasonography and intravenous urography. Surgical transvesical right "osteoplasty" and excision of the left ureterocele plus ureteric reimplantation, using Politano-Leadbetter technique, were performed. The surgical approach to ureterocele is discussed and we underlined the difficulty of therapeutic decisions, especially if surgery is considered.

Adult↗

Local expansion of allergen-specific CD30+Th2-type gamma delta T cells in bronchial asthma.

BACKGROUND: T lymphocytes infiltrating airways during the allergic immune response play a fundamental role in recruiting other specialized cells, such as eosinophils, by secreting interleukin 5 (IL-5), and promoting local and systemic IgE synthesis by producing IL-4. Whether these presumed allergen-specific T cells are of mucosal or systemic origin is still a matter of conjecture. MATERIALS AND METHODS: Immunophenotype, IL-4 production, and in vitro proliferative response to specific or unrelated allergens were analyzed in the bronchoalveolar lavage (BAL) fluid lymphocyte suspensions obtained from untreated patients with allergic asthma. Healthy subjects and patients affected by pulmonary sarcoidosis, a granulomatous lung disease characterized by infiltrating Th1 CD4+ lymphocytes, served as controls. RESULTS: The proportions of gamma delta T lymphocytes, mostly CD4+ or CD4- (-)CD8-, was higher in asthmatic subjects than in controls (p < 0.05). Most BAL gamma delta CD4+ lymphocytes of asthmatic patients displayed the T cell receptor (TCR)-gamma delta V delta 1 chain. While CD30 antigen coexpression on the surface of BAL alpha beta(+) T lymphocytes was low (ranging from 5 to 12%), about half of pulmonary gamma delta T cells coexpressed it. These cells produced IL-4 and negligible amounts of interferon-gamma (IFN gamma), and proliferated in vitro in response to purified specific but not unrelated allergens. In contrast, control or sarcoidosis gamma delta T cells never displayed the CD30 surface molecule or produced significant quantities of IL-4. CONCLUSIONS: These findings not only confirm our previous hypothesis that the allergen-specific Th2-type lymphocytes found in the lungs of asthmatic patients are gamma delta T cells belonging to airway mucosal immunocytes, but also strongly support the notion that asthma is a local rather than a systemic disease.

Adult↗

Gene deletion causing adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.

We report a patient with X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism in whom there were no clinical or biochemical features of either glycerol kinase deficiency or Duchenne muscular dystrophy. (The adrenal hypoplasia congenita and glycerol kinase loci map in Xp21 distal to Duchenne muscular dystrophy, and proximal to DXS727). DNA isolated from our patient was analysed by PCR amplification with primers for appropriate loci in the Xp21 region. This analysis revealed the absence of DXS319, which lies near the adrenal hypoplasia congenita deletion critical region, and the presence of DXS727, which is distal to the gene. The absence of glycerol kinase deficiency biochemically and clinically was consistent with the presence of one glycerol kinase exon product from PCR primers P17/P18 which lies within the glycerol kinase gene. The hypogonadotrophic hypogonadism is universally found in X-linked adrenal hypoplasia congenita and is thought to be pituitary in origin. These findings suggest that a gene locus resulting in hypogonadotrophic hypogonadism is present in the Xp21 region and is an integral part of the adrenal hypoplasia congenita gene or in close relationship to it.

Adolescent↗

Chronic rejection.

Current immunosuppressive protocols have significantly decreased graft loss to acute rejection but have had no effect on graft loss to chronic rejection. Recently, attention has been focused on the prevention and management of chronic rejection. Centers must come to a uniform definition of this phenomenon so that studies can be compared. It is believed that the definition should include both a typical clinical course and a definitive biopsy. For kidney transplant recipients, the major risk factor for the development of chronic rejection appears to be a previous acute rejection episode. Other important risk factors include low-dose maintenance immunosuppression and previous infection. Noncompliance probably plays a role in some patients. For extrarenal transplant recipients, chronic rejection has been associated with cytomegalovirus infection and/or HLA-DR matching. Immunoregulatory processes posttransplant may modify or attenuate the development of chronic rejection. Large, prospective clinical studies are required to further elucidate risk factors and to determine the effect of intervention.

Chronic Disease↗

[Profile modifications induced by orthodontic forces studied by an analysis of the nasolabial angle].

The authors have studied the development modifications of the facial profile subsequent to the different types of headgear focusing attention on the nose-labial angle variations. This study has evaluated separately the orthopedic action of the headgear measuring the variations of the columella inclination as regards the Frankfurt horizontal plane and the orthodontic action measuring the variation of the filter inclination as regards the Frankfurt horizontal plane. The study of the profile pictures of 20 patients in II Class I division treated with extra-oral traction and edgewise therapy showed that; while the high headgear determined a slight change of growth orientation in the nasal component of the nasal-jaw complex directing it upwards; the cervical headgear instead; determined a considerable descent of the nose with a consequent anti-aesthetic result.

Adolescent↗

A randomized clinical trial of induction therapy with OKT3 in kidney transplantation.

A randomized, prospective multicenter trial was conducted to compare the safety and efficacy of OKT3 as an induction therapy with that of conventional immunosuppressive therapy administered to cadaveric renal allograft recipients. Two hundred fifteen patients were treated either with OKT3 plus azathioprine and steroids for 14 days with the delayed addition of cyclosporine on day 11, or with conventional immunosuppression (steroids, azathioprine, and cyclosporine). OKT3 patients had significantly fewer rejection episodes (51% vs. 66%, P = 0.032), a longer time to initial rejection (46 days vs. 8 days, P = 0.001), and fewer rejection episodes per patient (0.82 vs. 1.14, P = 0.014) than conventionally treated patients. Kaplan-Meier estimates of two-year graft and patient survival rates were 84% and 95%, respectively, for the OKT3-treated group, and 75% and 94%, respectively, for the conventionally treated group. Following a subsequent first rejection episode, OKT3 reversed 93% of the rejections in patients receiving OKT3 induction therapy and 94% in patients receiving conventional therapy. Adverse experiences reported during OKT3 induction therapy were similar to those seen when the drug was used for rejection. Following initial exposure, 40.3% of the patients tested were positive for anti-OKT3 antibody, only 6.7% of which were of high titer (1:1000). In the presence of low titer (1:100 or less) antibody, OKT3 was successful in reversing rejection in five of six retreated patients tested. In conclusion, treatment with OKT3 (in combination with azathioprine, steroids, and the delayed addition of cyclosporine) is an effective approach for renal allograft maintenance.

Adolescent↗

[Virilization in women. Clinical and therapeutic aspects].

Androgenization in women can be divided, from a clinical standpoint, in two groups: a major form (with hirsutism, seborrhea, acne, hair loss, menstrual irregularities, masculinization of muscles and voice, mammary atrophy) and a minor one, with skin changes only (in particular hirsutism) with or without menstrual problems. The different clinical presentations are reviewed here: virilizing tumours of adrenal glands and ovaries, adrenogenital congenital syndromes, Cushing's syndrome and disease, iatrogenic forms, simple or idiopathic hirsutism, late onset enzymatic defects of adrenal steroidogenesis, polycystic ovary syndrome). The relevant therapeutic options are discussed. Special attention is devoted to the treatment of simple cutaneous androgenization, a problem affecting about 10% of women, by antiandrogenic drugs, mostly cyproterone acetate and spironolactone. These compounds compete with dehydrotestosterone for androgen cutaneous receptors, and have obtained good results, although not permanent. The indications, use and side-effects are also discussed.

Adrenal Gland Diseases↗

Isolation of a candidate gene for Norrie disease by positional cloning.

The gene for Norrie disease, an X-linked disorder characterized by progressive atrophy of the eyes, mental disturbances and deafness, has been mapped to chromosome Xp11.4 close to DXS7 and the monoamine oxidase (MAO) genes. By subcloning a YAC with a 640 kilobases (kb) insert which spans the DXS7-MAOB interval we have generated a cosmid contig which extends 250 kb beyond the MAOB gene. With one of these cosmids, microdeletions were detected in several patients with Norrie disease. Screening of cDNA libraries has enabled us to isolate and sequence a likely candidate gene for Norrie disease which is expressed in retina, choroid and fetal brain. No homologous sequences were found in DNA and protein databases indicating that this cDNA is part of a gene encoding a 'pioneer' protein.

Adult↗

Characterization of a YAC containing part or all of the Norrie disease locus.

It has been shown from pulsed-field gel electrophoresis (PFGE) that the monoamine oxidase genes A and B (MAOA & MAOB) and DXS7 loci are physically very close. We have therefore extended studies on their relationship through the characterisation of a 650 kb YAC isolated using L1.28 (recognising the DXS7 locus) as a probe. Restriction mapping of the YAC indicates that it contains both MAOA and MAOB genes in addition to the DXS7 locus. The map derived from the YL1.28-YAC is compatible both with the map from an independently derived YAC carrying MAOA and B genes and with the long range genomic map for the region. A series of subclones prepared from a 'phage library (lambda DASH II) of the YAC have been characterised and have been employed to determine the end point of the deletion of a Norrie disease (NDP) patient who has been shown to lack both DXS7 and MAO coding sequences. The pattern of retention of subclones in the deletion patient place the end point of the deletion within 30-130 kb of the proximal end of the YAC. By combining the data with established recombination analysis, we provide evidence that all or part of the NDP lies in the interval of approximately 250kb within the YAC.

Blindness↗