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S Nava

Publications and source records attributed to S Nava.

At least 145 records · Page 8Linked to original sources
PubMed1975

Familial true hermaphrodism in three siblings: clinical, cytogenetic, histological and hormonal studies.

Three affected siblings with the hermaphrodism are described. The propositi showed the following characteristics: male phenotype and gender role, hypospadias, bilateral scrotal ovotestes with palpable nodules, and absence of müllerian structures. The X chromatin was positive and the Y chromatin was negative in the 3 affected subjects. Their karyotype in peripheral blood lymphocytes and in gonadal fibroblasts was 46,XX and no Y chromosome fluorescence was observed. Plasma FSH was elevated in the 2 older patients and plasma LH was elevated only in the oldest. Plasma testosterone was low and plasma estradiol high in the 3 siblings; plasma progesterone was elevated in 2, but normal in 1 sibling. Since some of the clinical characteristics of these 3 affected siblings are not the most common features in the majority of sporadic cases of true hermaphrodism, it is suggested that the presence of all of them may be the first clue for the clinical suspicion of the familial type of true hermaphrodism.

Adolescent↗
PubMed1975

Ring chromosome 6 in a malformed boy.

In a mentally retarded and malformed boy who died at 6 months of age a ring chromosome 6 was identified by G banding. Clinical, cytogenetical and post-mortem findings are discussed.

Abnormalities, Multiple↗
PubMed1975

The 12p trisomy syndrome.

Trisomy for the short arm of chromosome number 12 was diagnosed (by a G-banding method) in a girl with multiple congenital defects. Her mother and two sisters showed a balanced translocation 46,XX,rcp(12;21)(p11;p11), so, the affected girl was the result of a maternal adjacen t-1 meiotic segregation with a karyotype 46,XX,der21,rcp(12;12)(p11;q11)mat. Another sister decreased at 3 yr of age showed similar phenotypical features and was considered also affected although no karyotype studies were performed. Both affected cases were compared with a previous one and the concordant characteristics allowed the individualization of the following syndrome: severe mental retardation, peculiar flat facies with prominent checks, epicanthic folds, broad and irregular implantation of the eyebrows, broad and flat nasal bridge with short and narrow nose, anteverted nostrils and large philtrum, broad and prominent lower lip, low set ears with folded helix, prominent anthelix and deep concha, "spade" shape fingers (sharp-pointed distal phalanges) with shortness of the fifth, bilateral genu valgum, slightly increased space between first and second toes, secral dimple, generalized hypotonia and hyporeflexia of knees and ankles, nistagmus, retarded and dysrythmic bone age, simian creases or equivalent and distal axial triradii.

Abnormalities, Multiple↗
PubMedDate not supplied

The fetal behavioural states: an ultrasonic study.

In order to accurately detect the fetal behavioural state, we simultaneously measured fetal heart rate and multiple fetal activities in 27 healthy pregnant women at 38 to 40 weeks of gestation. We ultrasonically identified gross body movements, breathing movements and micturition. Analysis of fetal heart rate allowed us to distinguish two different patterns of fetal behaviour: active and quiet phases. The frequency distribution of the analysed fetal events was significantly different in these two phases. These data suggest that a complete biophysical profile of the fetus is effective in differentiating behavioural states and may improve the predictive accuracy of fetal heart rate analysis alone.

Adult↗
PubMedDate not supplied

Pedal consequences of rhabdomyolysis: a case report.

The authors present an unusual case that has been seldom reported in the literature. The clinical rhabdomyolysis syndrome, resulting from muscle disintegration, can be the result of numerous etiologic events and have serious sequelae. The pedal manifestations result from muscular and neurologic insult. The patient in this reported case survived rhabdomyolysis despite renal and hepatic failure requiring diuresis and hemodialysis. The only permanent long-term sequelae the patient suffered was flexible hammertoe deformities and parasthesias of all lesser digits of both feet. The follow-up is over 8 years.

Adult↗
PubMedDate not supplied

Gonads and genital ducts in a case of male pseudohermaphroditism.

We describe a patient with a 46,XY karyotype, ambiguous external genitalia and partial 17a-hydroxylase deficiency in whom we performed a light microscopic study of the gonads and genital ducts. The right and left testes and epididymides were hypoplastic whereas the right vas deferens was normal, the left one was atretic and a left infundibular remnant was also present, which could be due to a concomitant deficiency in testicular secretions in the early stages of embryonic development or to the possibility of receptor insensitivity for testicular hormones or to a concomitant gonadal dysgenesis.

17-Ketosteroids↗
PubMedDate not supplied

Concurrent carboplatin/5FU and radiotherapy compared to radiotherapy alone in locally advanced cervical carcinoma: a case-control study.

AIMS AND BACKGROUND: Despite the introduction of innovative techniques in radiotherapy (RT) delivery, no significant improvement in survival has been achieved in the last decades. Concurrent chemoradiation therapy (CRT) is one of the several avenues being explored to improve the results. METHODS AND STUDY DESIGN: Twenty-eight women with locally advanced squamous cell carcinoma of the uterine cervix were treated with CRT comprising a combination of external and intracavitary RT, along with 3 cycles of 5-fluorouracil (5-FU) and carboplatin. Toxicity, pelvic control rate and disease-free survival achieved in this group of patients were compared in a case-control study with those of a group of 28 patients with similar clinico-pathologic characteristics treated with radical RT alone at our institution. RESULTS: CRT was well tolerated, with 97% of the patients completing the protocol as planned. Acute toxicity, primarily hematologic, was significantly (P = 0.05) higher in the cases than in the controls (25% vs 3%). One treatment-related death occurred in a stage III patient in the CRT group. The median follow-up was 55 months (range, 20-156) in the RT group and 20 months (range, 14-46) in the CRT group. Pelvic control rate, disease-free survival and overall survival were not significantly different in the two groups. Estimated 5-year survival rate was 70% and 66% respectively for the RT and CRT group. CONCLUSIONS: Concomitant carboplatin/5-FU and radiotherapy is a safe and tolerable means of treatment for locally advanced cervical cancer. In our study, however, concurrent CRT did not result in a significant improvement in pelvic control rate or survival compared to standard conventional radiotherapy.

Adult↗
PubMedDate not supplied

Neoadjuvant chemotherapy to radiation and concurrent chemoradiation for locally advanced squamous cell carcinoma of the cervix: a review of the recent literature.

Radiotherapy is the standard treatment for locally advanced cervical cancer; nevertheless it fails to control disease progression within the irradiation fields in more than 40% of cases, particularly in patients with bulky tumor. Distant metastases are not infrequent in more advanced cases. Chemotherapy has been integrated with radiotherapy to improve local control and treat distant subclinical metastases. Schedules of combined treatment more frequently represented by neoadjuvant chemotherapy followed by radiation (NACT) and by concomitant chemotherapy and radiation (CT-RT). A review of the recent literature is presented. The role of NACT is controversial: high response rates are reported but doubtful advantages in terms of survival or local control have been shown. In randomized trials, hydroxyurea concomitant to radiation improves local control and survival, particularly in stage IIIB and IVA. Several randomized trials of concurrent chemoradiation with 5FU, cisplatin and mitomycin C are underway, but few have been published: no significative differences are reported in term of local control or survival. Acute toxicity is higher than in radiation alone, but usually manageable. For the analysis of late morbidity a longer follow-up is required. Large randomized trials of adequate radiotherapy versus concomitant chemoradiation are necessary to refine our understanding of the benefits of this integrated treatment.

Antineoplastic Combined Chemotherapy Protocols↗
PubMedDate not supplied

The role of radiotherapy in the treatment of carcinoma of the prostate: a survey of clinical practices in Lombardy, Italy, by the AIRO-Lombardia Cooperative Group. Italian Association for Radiation Oncology.

AIMS AND BACKGROUND: We report the results of a survey performed in 1994 by the AIRO-Lombardia Cooperative Group, on the clinical patterns of radiation treatment for prostatic carcinoma in Lombardy, Italy, involving all radiotherapy centers serving an overall local population of about 8,800,000 people. METHODS: A questionnaire was sent to all 13 radiotherapy centers throughout Lombardy, asking for demographic and treatment details concerning the local population of patients with a localized (T1-4, N0-1, M0) carcinoma of the prostate treated with radiotherapy; 12 centers responded, making the basis for the present report. RESULTS: Analysis of collected data showed that in Lombardy: a) approximately 400 patients per year are irradiated for a localized carcinoma of the prostate, accounting for less than 30% of the total expected number of patients with this disease presentation; b) a complete staging (with PSA, transrectal ultrasonography, abdomino-pelvic CT or MRI scan and total-body bone scan) is performed in over 95% of patients before initiating radiotherapy; c) significant differences exist between radiotherapy centers as regards treatment planning and delivery. CONCLUSIONS: An urgent need exists for implementing procedures aimed at standardizing radiotherapy procedures within Lombardy.

Carcinoma↗
PubMedDate not supplied

Physiological effects of intravenous fructose 1.6-diphosphate on diaphragmatic function in malnourished patients with COPD.

BACKGROUND: A low body mass index is one of the strongest predictors of mortality in Chronic Obstructive Pulmonary Disease (COPD) patients. Under-nutrition is often associated with skeletal muscle wasting and hypophosphatemia. AIM AND METHODS: In a pilot, randomised, double-blind placebo-controlled study, we assessed the physiological effects of phosphorous administration in 17 stable undernourished COPD patients, on diaphragmatic function, breathing pattern, neuromuscular drive (P0.1) and dyspnea score. Fructose 1.6-diphosphate (FDP) or placebo was administered i.v. for 7 consecutive days. RESULTS: FDP administration was associated with a marked increase in inspiratory time (Ti) that induced a significant rise (p < 0.05) in the Pressure Time Product of the diaphragm per breath (PTPdi/b). However, since breathing frequency also decreased, the Pressure Time Product per minute of the diaphragm (PTPdi/min), index of diaphragmatic energy expenditure was markedly reduced. The efficiency of the respiratory pump in clearing CO2 was also improved, although not significantly, in the FDP group (p = 0.09) as well as the maximal transdiaphragmatic pressure during the sniff manoeuvre (Pdi,sniff). CONCLUSIONS: This pilot physiological study showed that phosphorus replacement in undernourished, stable COPD patients, may be associated with a complex modification in respiratory pattern and diaphragmatic functions, leading to a marked although not significant reduction in PTPdi/min.

Aged↗
PubMedDate not supplied

Inspiratory muscle workload due to dynamic intrinsic PEEP in stable COPD patients: effects of two different settings of non-invasive pressure-support ventilation.

BACKGROUND: In severe stable hypercapnic COPD patients the amount of pressure time product (PTP) spent to counterbalance their dynamic intrinsic positive end expiratory pressure (PEEPi,dyn) is high: no data are available on the best setting of non invasive pressure support ventilation (NPSV) to reduce the inspiratory muscle workload due to PEEPi,dyn. METHODS: The objectives of this randomised controlled physiological study were: 1. To measure the inspiratory muscle workload due to PEEPi,dyn 2. To measure the effects on this parameter of two settings of NPSV in stable COPD patients with chronic hypercapnia admitted in a Pulmonary Division of two Rehabilitation Centers. Twenty-three stable COPD patients with chronic hypercapnia on domiciliary nocturnal NPSV for 30 +/- 20 months were submitted to an evaluation of breathing pattern, PEEPi,dyn, inspiratory muscle workload and its partitioning during both assisted and unassisted ventilation. Two settings of NPSV were randomly applied for 30 minutes each: i- "at patient's comfort" (C): Inspiratory pressure support (IPS) was the maximal tolerated pressure able to reduce awake PaCO2 with the addition of a pre-set level of external PEEP (PEEPe); ii- "physiological setting" (PH): the level of IPS able to achieve a > 40% and < 90% decrease in transdiaphragmatic pressure in comparison to spontaneous breathing (SB). A PEEPe level able to reduce PEEPi,dyn by at least 50% was added. RESULTS: During SB the tidal diaphragmatic pressure-time product (PTPdi/b) was 17.62 +/- 7.22 cmH2O*sec, the component due to PEEPi,dyn (PTPdiPEEPi,dyn) being 38 +/- 17% (range: 16-65%). Compared to SB,PTPdiPEEPi,dyn was reduced significantly with both settings, the reduction being greater with PH compared to C. CONCLUSIONS: In conclusion in severe COPD patients with chronic hypercapnia the inspiratory muscle workload due to PEEPidyn is high and is reduced by NPSV at a greater extent when ventilator setting is tailored to patient's mechanics.

Aged↗
PubMedDate not supplied

Minimal requirements in prostate cancer irradiation: a consensus document by the AIRO Lombardia Cooperative Group.

PURPOSE: With the aim of establishing clinical and technical criteria to homogenize radiotherapy practice, a working group of AIRO-Lombardia (Associazione Italiana di Radioterapia Oncologica--Gruppo regionale della Lombardia) has tried to define minimal requirements for radical and postoperative irradiation in prostate cancer. The document has been structured in such a way as to be also of interest to the urological and medical oncology communities. METHODS: The working group, composed of representatives of most of the regional radiotherapy departments in the Lombardy region, had monthly meetings during 1996 and 1997. The document on minimal requirements has been derived from the participants' combined experience and knowledge, from review of the literature, and from a 1995 regional survey on current practice of prostate irradiation. RESULTS: Minimal requirements for radical and postoperative irradiation of prostate cancer have been defined with respect to treatment strategies, pre-treatment diagnostic evaluation and staging, treatment prescription, preparation and execution, and quality assurance procedures. CONCLUSION: Standards of reference for minimal requirements in prostate cancer irradiation adapted to the regional structures and resources have been defined.

Humans↗
PubMedDate not supplied

Use of bronchodilators during non-invasive mechanical ventilation.

Bronchodilators represent one of the most important therapeutic weapons for the treatment of airway obstructive diseases and the inhaled route of administration is very often employed due to the greater drug availability and reduced magnitude of side effects. During acute exhacerbations, it is not unfrequent that the elastic and resistive loads imposed on the ventilatory pump overcome the force sustainable by the respiratory muscles and the patient requires ventilatory assistance, in order to relieve fatigue and to optimize alveolar gas exchange. During these episodes, inhaled bronchodilators, far from being discontinued, sometime must be administered during mechanical ventilation, that, in hypercapnic ventilatory failure can be frequently applied noninvasively with a good rate of success. While in the current literature there are a lot of data about inhaled drug administration during invasive mechanical ventilation, very few data are available on the topic of aerosol therapy during noninvasive mechanical ventilation. With the present paper we want to analyze the rationale, the feasibility and the current data dealing with the administration of inhaled drugs during noninvasive mechanical ventilation.

Asthma↗