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Biomedical subjects

M Andrea

Publications and source records attributed to M Andrea.

At least 19 recordsLinked to original sources
PubMed2005

A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma.

Mitochondrial DNA (mtDNA) A7445G point mutation has been shown to be responsible for familial nonepidermolytic palmoplantar keratoderma (NEPPK) associated with deafness without any additional features. To date, only a few cases have been described. We report a Portuguese pedigree presenting an inherited combination of NEPPK and sensorineural deafness compatible with maternal transmission. Clinical expression and age of onset of NEPPK and deafness were variable. Normal expression patterns of epidermal keratins and filaggrin, intercellular junction proteins including connexin 26, loricrin and cornified envelope proteins, were observed. Molecular analysis revealed that all the affected members, previously screened for Cx26 mutations with negative results, presented the mtDNA A7445G point mutation in the homoplasmic form. To our knowledge, this is the fifth family in whom inherited NEPPK and hearing loss are related to this mitochondrial mutation.

Adult↗
PubMed1999

[Endoscopic imaging techniques in the diagnosis of laryngeal carcinoma and its precursor lesions].

BACKGROUND: In order to improve preoperative diagnostic work-up in treatment of patients with laryngeal cancer and its precursor lesions additional endoscopical imaging techniques have been developed: 1. Autofluorescence endoscopy; 2. Contact endoscopy; 3. Endoscopic high-frequency ultrasound. These imaging techniques are used during microlaryngoscopy to get further information about tumor extension and differentiation. This paper describes the diagnostic potential of these imaging techniques in the evaluation of cancerous lesions of the larynx. MATERIAL AND METHODS: Patients in different stages of laryngeal dysplasia, carcinoma in situ and laryngeal cancer were examined by means of the previous mentioned imaging techniques during microlaryngoscopy (Autofluorescence endoscopy [n = 38], contact endoscopy [n = 323], endoscopic high-frequency ultrasound [n = 60]) and the results were compared to pathohistological findings. In autofluorescence endoscopy cancerous mucosa was illuminated using blue filtered light (380-460 nm) to obtain autofluorescence for optical demarcation of the lesion. Contact endoscopy was performed after staining of the laryngeal mucosa with methylene blue (1%). Two different endoscopes with 60 x and 150 x magnification were used. In both techniques a video image was achieved by using a xenon light source and a special video camera to register autofluorescence. The endoscopical high-frequency ultrasound examination was performed after flooding the larynx with 0.9% saline. Newly developed ultrasound catheters with frequencies between 10 to 20 MHz were inserted in the laryngeal lumen and moved in a standardized pattern during the examination. RESULTS: During the autofluorescence examination of the endolaryngeal mucosa precancerous and cancerous lesions showed a red to violet fluorescence outlined against the light green autofluorescence of the normal mucosa. Hyperplastic hyperkeratotic epithelium revealed a higher intensity of light green or even whitish autofluorescence compared to normal mucosa autofluorescence. After staining the vocal cords with methylene blue, it was possible to observe the cells, nuclei and cytoplasm of the laryngeal mucosa and their different grades of abnormality using the specially developed contact endoscopes. Endoscopic high-frequency ultrasound (10 to 20 MHz) was able to measure the vertical extension of laryngeal carcinomas bigger than 3 mm in size. The involvement of the thyroid cartilage or the anterior commissure could be visualized. Preoperatively, the critical T2 stage could be evaluated more precisely. In precancerous lesions and microinvasive cancer ultrasound added no additional Information to the microlaryngoscopical picture. CONCLUSION: Autofluorescence, contact endoscopy as well as endoscopic high-frequency ultrasound are promising new imaging techniques supplementing microlaryngoscopy: autofluorescence as well as contact endoscopy are suitable to differentiate dysplasia, carcinoma in situ, microinvasive lesions as well as the evaluation of tumorous margins, while high-frequency ultrasound improves the assessment of tumorous infiltration into the depth of the larynx. These imaging techniques enable the laryngologist to perform a more accurate diagnostic work-up in the assessment of laryngeal cancer and its precursor lesions.

Carcinoma in Situ↗
PubMed1998

[Perinatal health: methodology and characteristics of the studied population].

OBJECTIVE: To describe the methodological procedures and some sociodemographic and medical care characteristics of the population studied in a research project on perinatal health developed in the Ribeirão Preto county, SP, in 1994, in order to make historical comparisons with the indicators of mother-child health of a similar study conducted 15 years before in the same municipality. MATERIAL AND METHOD: All the hospital births that occurred in Ribeirão Preto from June 1978 to May 1979 were studied by interviewing the mothers and obtaining data about maternal and paternal habits, social situation of the family, medical care during pregnancy and delivery, duration of pregnancy, and anthropometric and mortality data about the newborn children. A new study was conducted in 1994 using the same methodology to collect data about a sample of 1/3 of the births that had occurred in the municipality in that year (all the hospital births observed during a period of 4 months), and also about the mortality of this group up to one year after the termination of birth data collection. The interviews were held after delivery and infant weight and length were measured immediately after birth. Infant mortality was evaluated by surveying the data referring to all deaths of infants born during the year of the study and up to 1 year after its termination. The data were obtained from the Municipal Health Secretariat to which copies of all death certificates emitted in the registry offices of the county are sent obligatorily. RESULTS: An investigation was made into 3,663 births, 3,579 of which were singletons; of these, 2,846 were from the municipality. Comparison with the data obtained in the previous study showed an increase in the frequency of some indicators such as adolescent mothers, prematurity, low birth weight and cesarian section; on the other hand, there was a 50% decrease in the mortality rate and its components.

Adult↗
PubMed1997

Contact endoscopy of the nasal mucosa.

The possibility of contact endoscopy in the nasal mucosa, using a contact microlaryngoscope is examined. With contact endoscopy it has been possible to visualize in vivo and in situ (60x, 150x) the superficial cell layers of the nasal epithelium, previously stained with methylene blue. Normal mucosa and cases with pathology (chronic rhinitis, nasal polyposis, inverted papilloma, mucormicosis and carcinoma) were assessed with contact endoscopy (50 patients). Squamous epithelium, ciliated epithelium, glandular ostia, mucus secretions, microvascular networks, inflammatory cell infiltrates, tissue inclusions, nuclear abnormalities, and fungal hyphae have been made visible. The potential of contact endoscopy in the nose, the alterations required in the contact endoscope and the intense interdisciplinary work needed are discussed. Evaluation and differentiation of stages of chronic mucosal diseases, nasal polyposis, environmental pathology, allergy, mucocilliary diseases, pharmacotherapy, are some of the entities that will benefit from this technique.

Adolescent↗
PubMed1995

Contact endoscopy during microlaryngeal surgery: a new technique for endoscopic examination of the larynx.

By means of a microcolpohysteroscope during microlaryngoscopy, the cells of superficial layers of the vocal cord epithelium, previously stained with methylene blue, were observed in vivo and in situ. Several parameters were evaluated: regularity of the epithelium, dimensions and color of the nucleus, nucleus-cytoplasm ratio, nucleus and cytoplasm contours, and presence of the nucleolus, mitosis, cytoplasmic inclusions, keratosis, and koilocytes, among others. The normal squamous epithelium of the vocal cord has a homogeneous cell arrangement, with a spheroid and isochromic nucleus, and a uniform nucleus-cytoplasm ratio. Specific cellular epithelial patterns in different disorders were observed, namely, chronic laryngitis, keratosis, dysplasia, papilloma, and malignant tumor. The present study on contact endoscopy during microlaryngeal surgery reports our first results with this original technique, performed in 68 patients.

Adolescent↗
PubMed1995

Contact endoscopy of the vocal cord: normal and pathological patterns.

Contact endoscopy allows an in vivo and in situ study of the superficial layers of the vocal cord epithelium. This technique offers access to some characteristics of the epithelium cells: dimension and shape of the nuclei, nucleus/cytoplasm ratio, keratosis, presence of nucleolus, mitosis and koylocites. Contact endoscopy was performed during microlaryngoscopies in 92 patients with benign, pre-malign and malign pathology of the vocal cords. Systematic confrontation with pathological examination and laryngectomy specimens studied by histology and electron microscopy were used to improve the interpretation of contact endoscopy findings. Based on this correlation it has been possible to analyse the transition of the squamous and ciliated epithelium of the vocal cord as well as to delineate some pathological patterns, e.g. chronic laryngitis, keratosis, dysplasia, tumor and papilloma.

Adolescent↗
PubMed1994

Obstructive sleep apnea. Clinical and laboratory studies.

Our study included 42 patients with obstructive sleep apnea (OSAS) confirmed by polysomnography. In these patients we investigated the clinical manifestations, the results of the laboratory examinations, including polysomnography, ORL observations and tests of pulmonary function, as well as the therapeutic results. Our patients presented a serious set of symptoms which included excessive daytime sleepiness, snoring, obesity, craniofacial abnormalities, systemic hypertension, cardiac arrhythmias, incapacity to work with precocious retirement, marital conflicts and high incidence of accidents, namely traffic accidents. An adequate treatment, mostly with nasal CPAP (continuous positive airway pressure), induced marked relief of the symptoms; some patients had an advantage in surgical treatment and weight reduction. OSAS is a frequent entity, affecting mostly male adults after the 5th decade. The lack of knowledge about this entity and the common social acceptance of some of its cardinal symptoms induces considerable delays in its diagnosis. The severity of the symptoms, the personal and social risks of excessive daytime sleepiness, the cardiocirculatory effects and the risk of sudden death during sleep justify an early diagnosis in order to prevent the severe evolution of the disease. Its complex physiopathology and multiple etiological factors justify a multidisciplinary approach.

Adult↗
PubMed1993

[Obstructive sleep apneas. A clinical and laboratory study].

Our study included 42 patients with obstructive sleep apnea (OSAS) confirmed by polysomnography. In these patients we investigated the clinical manifestations, the results of the laboratory examinations, including polysomnography, ORL observations and tests of pulmonary function, as well as the therapeutic results. Our patients presented a serious set of symptoms which included excessive daytime sleepiness, snoring, obesity, cranio-facial abnormalities, systemic hypertension, cardiac arrhythmias, incapacity to work with precocious retirement, marital conflicts and high incidence of accidents, namely traffic accidents. An adequate treatment, mostly with nasal CPAP (continuous positive airway pressure), induced marked relief of the symptoms; some patients had an advantage in surgical treatment and weight reduction. OSAS is a frequent entity, affecting mostly male adults after the 5th decade. The lack of knowledge about this entity and the common social acceptance of some of its cardinal symptoms induces considerable delays in its diagnosis. The severity of the symptoms, the personal and social risks of excessive daytime sleepiness, the cardio-circulatory effects and the risk of sudden death during sleep justify an early diagnosis in order to prevent the severe evolution of the disease. Its complex physiopathology and multiple etiological factors justify a multidisciplinary approach.

Adult↗
PubMed1993

Treatment results of three consecutive Brazilian cooperative childhood ALL protocols: GBTLI-80, GBTLI-82 and -85. ALL Brazilian Group.

The Brazilian Cooperative Group for Treatment of Childhood Acute Lymphocytic Leukemia (GBTLI) has started clinical activities trials in 1980. Three consecutive multicenter studies in children with unprevious treated ALL have been completed including 994 patients. The first GBTLI-80 accrued 203 children from 1980 to 1982. It was delineated with the standard three drugs induction therapy, CNS protection for all pts comprised cranial irradiation and intrathecal Methotrexate. For low risk pts cranial irradiation with 18Gy was compared in a randomized trial with 24Gy. Maintenance therapy continued for 120 weeks. The 12 years of the event free survival rates for all risk groups is 50% (SD 5%). Regarding CNS relapses there was no significant statistical difference between pts that received 18 or 24Gy. The treatment strategy of GBTLI-82 (n = 360) from 1982 to 1985, consisted of the same previous induction, consolidation, CNS therapy with cranial irradiation 18 Gy (low risk) or 24Gy (high risk), followed by continuous maintenance for 2 years. The main question in this study was the comparison between sequential rotation or pulses of 3 pairs of drugs during maintenance. At a median follow-up of 10 years, the overall event free survival rates for all children is 58% (SD 4%). There was no significant difference between the two maintenance regimens. The successor GBTLI-85 ran from 1985 to 1988 and registered 431 pts. For the first time no cranial radiation was given to children with very good prognosis. For them, CNS protection was done with triple intrathecal therapy during all treatment. A consolidation therapy with high dose ARA-C was introduced for high risk pts and infants The 6.5 years event free survival for all children is 70% (SD 4%). Significant better results were achieved for high risk and infants pts (EFS 50%). Early intensification therapy and rotational combination chemotherapy improved the outcome in childhood ALL in Brazil.

Adolescent↗
PubMed1990

Childhood deafness in Portugal--aetiological factors and diagnosis of hearing loss.

The most common identified causes of hearing impairment in children are described based on the analysis of 1024 cases observed for a period of 4.5 years (1985-1989) at the ENT Department of the University of Lisbon. The values of mean ages of suspicion and diagnosis are indirectly used to assess the performance of the health care system concerning diagnosis of childhood deafness. Improvement of diagnostic age has been very important over the last years, due in part to an enormous increase in information and motivation of general practitioners and pediatricians which has been organized by the ENT Department of the University of Lisbon. Finally, the authors highlight the otorhinolaryngologist's important role in promoting the involvement of the different specialties for early diagnosis, correct management and prevention of childhood deafness.

Age Factors↗
PubMed1990

[Ultrasonographic diagnosis of choledocholithiasis].

In recent years various authors have shown more than a threefold increase in us diagnosis of choledocholithiasis. To verify this premise, we examined prospectively with ultrasound, from January, 1987, to December 1990, 107 cases, all confirmed by subsequent intraoperative cholangiography. The ultrasound diagnosis was positive in 55 cases (51,5%), negative in 52, and the percentage of positivity was higher in prepared patients (59%) than in the emergency ones. Of the 55 positive cases, 54 showed common bile duct dilatation (more than 6 mm.), and only 1 had a normal diameter. Also our results show a marked improvement of ultrasound sensitivity in this kind of diagnosis, in comparison with previous series, depending on the continuous improvement in technology. Anyway some limiting factors remain, such as sonologist experience, poor patient intestinal preparation, absence of common bile duct dilatation.

Cholangiography↗
PubMed1986

Direct multiplanar computed tomography in planning radiotherapy for malignant tumours of the nasopharynx.

A method of direct computed tomography (CT) scanning for planning radiotherapy of malignant nasopharyngeal tumours is described. Direct multiplanar CT scanning is the imaging method of choice for the diagnosis and definition of the target volume of these tumours. The patient is positioned for treatment precisely as for direct axial model CT. By integrating the information generated by high-definition scout views, direct axial mode, and, occasionally, direct coronal mode CT, the anatomical points of reference are identified. These are then translated to the surface anatomy of the patient to define the fields accurately prior to radiotherapy treatment.

Humans↗
PubMed1981

The anterior commissure of the larynx.

This study is based on a very large series of histological sections of non-tumour-bearing larynges, most of them in the horizontal plane. Six hundred sections in one larynx were performed to show the constitution of the anterior region of the larynx at all levels. Although the same tissues are present (fibres, glands and vessels) in almost the entire extent of the anterior segment of the larynx, there is a small zone immediately above the vocal cords with neither glands nor vessels. The authors designate this zone as 'plane O' which separates the anterior commissure from the thyro-epiglottic ligament. It is not possible to separate the anterior commissure from the most anterior portion of the subglottis, because the glands and vessels are in continuity. There are 2 regions of the anterior part of the larynx: a supraglottic (vestibulo-epiglottic) and a glottic-subglottic to which the anterior commissure belongs.

Glottis↗
PubMed1980

[The microvascularisation of the laryngeal and tracheal mucosa. Introduction to the physiopathology of stenosing lesions (author's transl)].

The authors studied the vascular supply of the laryngeal and tracheal mucosa. They based their results on the technique of microangiography. In this study the authors compare the distribution of the small vessels of the mucosa of the cervical trachea and of the larynx--posterior commissure, laryngeal surface of the spiglottis and sub-glottal level. There are analogies between the mucosa of the trachea and that of the sub-glottal level. The region of the posterior commissure has special characteristics. The authors demonstrate the importance of these small vessels in the physiopathology of stenosing lesions (post-tracheotomy or post-intubation).

Female↗
PubMed1977

[Vascularization of the laryngeal cartilages; true clinical importance (author's transl)].

The authors specify the role of the ossification process of the larynx cartilages. Only the epiglottis may be considered as a cartilage. The use of microangiography made it possible to describe some peculiar features of the microvascular pattern. The vascular patterns of the thyroid, cricoid and arithenoids cartilages are similar to one another; the cartilage and its two perichondriums must be considered as a complete whole. The epiglottis shows a peculiar vascular pattern. The authors insist upon the important role of the vascular pattern in pathologic studies.

Angiography↗