Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 25
Filter
1.
Molecules ; 29(4)2024 Feb 06.
Article in English | MEDLINE | ID: mdl-38398508

ABSTRACT

Tryptophan synthase (TRPS) is a complex enzyme responsible for tryptophan biosynthesis. It occurs in bacteria, plants, and fungi as an αßßα heterotetramer. Although encoded by independent genes in bacteria and plants, in fungi, TRPS is generated by a single gene that concurrently expresses the α and ß entities, which are linked by an elongated peculiar segment. We conducted 1 µs all-atom molecular dynamics simulations on Hemileia vastatrix TRPS to address two questions: (i) the role of the linker segment and (ii) the comparative mode of action. Since there is not an experimental structure, we started our simulations with homology modeling. Based on the results, it seems that TRPS makes use of an already-existing tunnel that can spontaneously move the indole moiety from the α catalytic pocket to the ß one. Such behavior was completely disrupted in the simulation without the linker. In light of these results and the αß dimer's low stability, the full-working TRPS single genes might be the result of a particular evolution. Considering the significant losses that Hemileia vastatrix causes to coffee plantations, our next course of action will be to use the TRPS to look for substances that can block tryptophan production and therefore control the disease.


Subject(s)
Basidiomycota , Molecular Dynamics Simulation , Tryptophan Synthase , Tryptophan Synthase/chemistry , Tryptophan Synthase/genetics , Tryptophan Synthase/metabolism , Tryptophan , Fungi/metabolism
2.
Int J Hyperthermia ; 38(2): 9-17, 2021 09.
Article in English | MEDLINE | ID: mdl-34420443

ABSTRACT

OBJECTIVE: To assess the impact of ultrasound-guided high-intensity focused ultrasound (USgHIFU) ablation for uterine fibroids on fertility. MATERIAL AND METHODS: A retrospective observational study was conducted of 560 reproductive-age women with symptomatic uterine fibroids who underwent USgHIFU therapy at Mútua Terrassa University Hospital, Spain, between February 2008 and February 2018. We analyzed pregnancy outcomes including time to conception, pregnancy approach, gestational age, delivery mode, neonatal outcomes and complications during pregnancy and delivery. RESULTS: After USgHIFU treatment, 71 pregnancies were obtained in 55 patients. Of these, 58 (82%) cases were natural pregnancies and 13 (18%) were in vitro fertilization (IVF) pregnancies. The median time to conception was 12 (range 1-72) months. There were 43 (61%) successful deliveries, including a twin gestation, 22 (31%) spontaneous abortions and 6 (8%) therapeutic abortions. The rate of full-term deliveries was 91% (39/43) and the remaining 9% (4/43) were preterm deliveries. Of the 44 live births, 25 (57%) were born vaginally and 19 (43%) by cesarean section. The complications reported included 3 women with retained placenta (7%), 2 with placenta previa (5%) and 1 with severe preeclampsia (2%). The mean birth weight was 3.1 (range: 1.4-4.3) kg, and except for a baby born with a tetralogy of Fallot, all newborns developed well without complications during postpartum and breastfeeding. CONCLUSION: Patients undergoing USgHIFU treatment of uterine fibroids can achieve full-term pregnancies with few intrapartum or postpartum complications. More studies are required to compare fertility and perinatal outcomes between patients who underwent or not USgHIFU.


Subject(s)
High-Intensity Focused Ultrasound Ablation , Leiomyoma , Uterine Neoplasms , Cesarean Section , Conservative Treatment , Female , Humans , Infant, Newborn , Leiomyoma/diagnostic imaging , Leiomyoma/surgery , Pregnancy , Pregnancy Outcome , Retrospective Studies , Treatment Outcome , Ultrasonography, Interventional , Uterine Neoplasms/diagnostic imaging , Uterine Neoplasms/therapy
3.
J Maxillofac Oral Surg ; 17(4): 636-637, 2018 Dec.
Article in English | MEDLINE | ID: mdl-30344413

ABSTRACT

INTRODUCTION: Surgical treatment of condylar neck fractures requires an extraoral approach when, due to the degree of difficulty of the fracture, an intraoral approach or an endoscopically supported treatment is not possible. In contrast to the cosmetically more favorable oral approach, extraoral approaches offer a better overview of the operating field and thus an easier fracture repositioning and osteosynthetic treatment. In 2007, Marti et al. described a minimal pre- and retroauricular incision with no extension to the hair-bearing skin and which aimed to improve the parotidectomy approach. MATERIALS AND METHODS: We present two cases in which minimal incision was used as a surgical approach for treatment of the condylar neck. DISCUSSION: Using the minimal incision, we were able to access the condylar neck. This type of approach as well as having the advantages of an open approach makes it possible to conceal the scar in the periauricular region and reduce the likelihood of salivary fistula.

4.
Int J Oral Maxillofac Surg ; 43(3): 274-80, 2014 Mar.
Article in English | MEDLINE | ID: mdl-24268899

ABSTRACT

It is not clear whether the presence of human papillomavirus (HPV) in squamous cell carcinomas of the tongue (SCCT) is of etiopathogenic and clinical significance. This study was designed to establish the incidence of HPV in SCCT and to determine the influence of HPV detection on clinical parameters and the prognosis. Clinical and histopathological data of 64 patients with SCCT were collected. Thirty benign lesions of the tongue were analyzed in parallel, in order to compare the HPV incidence and genotypes in these lesions with those of SCCT. Paraffin blocks of all cases were collected and PCR was carried out using SPF10 primers and the INNO-LiPA genotyping methodology. HPV was detected in 26.2% of the patients. Hybridization results showed that all patients except one had high-risk (HR)-HPV. HPV56 was the most common (42.1%), followed by HPV18 (26.3%), HPV16 (10.5%), HPV66 (10.5%), HPV39 (5.3%), and HPV51 (5.3%). The odds ratio of HR-HPV infection in cases vs. controls was statistically significant (9.45, 95% confidence interval 1.18-75.46). Among the results of the univariate analysis correlating the presence of HR-HPV with different clinical parameters, only mortality showed a statistically significant correlation, being higher in HR-HPV patients (odds ratio 3.97, 95% confidence interval 1.07-14.7).


Subject(s)
Carcinoma, Squamous Cell/virology , Carcinoma/virology , Papillomaviridae/isolation & purification , Papillomavirus Infections/diagnosis , Tongue Neoplasms/virology , Adolescent , Adult , Aged , Aged, 80 and over , Carcinoma, Squamous Cell/therapy , Female , Genotype , Humans , Incidence , Male , Middle Aged , Papillomavirus Infections/epidemiology , Polymerase Chain Reaction , Prognosis , Registries , Retrospective Studies , Risk Factors , Survival Rate , Tongue Neoplasms/therapy
5.
Eur J Clin Microbiol Infect Dis ; 31(10): 2765-72, 2012 Oct.
Article in English | MEDLINE | ID: mdl-22549730

ABSTRACT

This study aimed to determine the aetiology of community-acquired pneumonia (CAP) by adding polymerase chain reaction (PCR) to conventional methods and to describe the clinical and laboratory features between patients with bacterial pneumonia (BP) and viral pneumonia (VP). Adults with CAP admitted from November 2009 to October 2010 were included. Demographics, comorbidities, severity and clinical features were recorded. Conventional microbiological methods included blood and sputum cultures, acute and convalescent serologic samples, and antigen urinary detection. New methods included multiplex PCR for Mycoplasma pneumoniae, Legionella pneumophila, Chlamydophila pneumoniae, Bordetella pertussis and 15 respiratory viruses. A total of 169 patients were included. Using conventional methods, we identified a pathogen in 51 % of cases. With PCR, up to 70 % of cases had an aetiological diagnosis. Forty-five patients had BP (34 %), 22 had VP (17 %) and 25 (19 %) had co-infection (BP and VP). Pneumococci and respiratory syncytial virus (RSV) were the most frequently identified pathogens. Procalcitonin (PCT) and C-reactive protein (CRP) median values were significantly higher in BP than in VP patients. Shaking chills, higher CURB score and shock were significantly more frequent in BP. A viral infection was identified in more than one-third of patients with CAP. Clinical and laboratory features could help to differentiate between VP and BP and to guide empirical therapy.


Subject(s)
Community-Acquired Infections/diagnosis , Pneumonia, Bacterial/diagnosis , Pneumonia, Viral/diagnosis , Aged , Aged, 80 and over , Bacterial Typing Techniques , Bordetella pertussis/genetics , Bordetella pertussis/isolation & purification , Chlamydophila pneumoniae/genetics , Chlamydophila pneumoniae/isolation & purification , Coinfection/epidemiology , Coinfection/microbiology , Coinfection/virology , Community-Acquired Infections/epidemiology , Community-Acquired Infections/microbiology , Community-Acquired Infections/virology , Female , Gram-Negative Bacterial Infections/epidemiology , Gram-Negative Bacterial Infections/microbiology , Humans , Influenza A Virus, H1N1 Subtype , Influenza, Human/epidemiology , Influenza, Human/virology , Legionella pneumophila/genetics , Legionella pneumophila/isolation & purification , Male , Middle Aged , Multiplex Polymerase Chain Reaction , Mycoplasma pneumoniae/genetics , Mycoplasma pneumoniae/isolation & purification , Pandemics , Pneumonia, Bacterial/epidemiology , Pneumonia, Bacterial/microbiology , Pneumonia, Viral/epidemiology , Pneumonia, Viral/virology , Prospective Studies , Respiratory Syncytial Virus Infections/diagnosis , Respiratory Syncytial Virus Infections/epidemiology , Respiratory Syncytial Virus Infections/virology , Respiratory Syncytial Virus, Human/isolation & purification , Respiratory Syncytial Virus, Human/pathogenicity , Seasons , Severity of Illness Index , Spain/epidemiology
6.
Rev. esp. cir. oral maxilofac ; 30(4): 246-254, jul.-ago. 2008. tab, ilus
Article in Spanish | IBECS | ID: ibc-74757

ABSTRACT

Introducción. La posibilidad de emplear una piel fácilmenteplegable ha permitido reconstruir defectos de la cavidad oral consiguiendouna gran funcionalidad. Aunque el colgajo radial es el colgajo que se utilizacon más frecuencia para reconstruir defectos de superficie de la cavidad oral,el colgajo lateral de brazo puede ser de elección en algunas situaciones.Objetivos. El objetivo del presente trabajo es mostrar las ventajas e inconvenientesy nuestras indicaciones y resultados del colgajo lateral de brazo enreconstrucción de defectos de la cavidad oral.Material y método. Se trata de un estudio prospectivo sobre la utilización delcolgajo lateral de brazo en la reconstrucción de defectos de la cavidad oraltras cirugía ablativa. Se ha valorado: la viabilidad del colgajo, la morbilidaddel lecho donante, la longitud del pedículo, la selección de vasos receptores,las complicaciones y los resultados funcionales de la zona reconstruida.Resultados. Hemos utilizado el colgajo lateral de brazo en 10 pacientes enreconstrucciones primarias tras cirugía ablativa por carcinoma epidermoidede la cavidad oral. Hubo un caso de necrosis por trombosis venosa. El defectodonante se cerró en 8 casos de modo directo y en 2 con un injerto librede espesor parcial. La longitud media del pedículo ha sido de 8,75 cm. En 9casos el resultado funcional de los pacientes ha sido satisfactorio.Conclusiones. El colgajo fasciocutáneo lateral de brazo permite la reconstrucciónde la cavidad oral consiguiendo buenos resultados funcionales. Ademásla morbilidad de la zona donante es mínima y puede realizarse cierredirecto del defecto cutáneo del brazo en la mayoría de los casos(AU)


Introduction. The availability of easily pliable skin hasallowed the functional reconstruction of oral cavity defects. Althoughthe radial forearm free flap is the most frequently used flap for thereconstruction of surface defects of the oral cavity, the lateral armfree flap may be preferable in some situations.Objectives. The aim of the present paper is to show the advantagesand disadvantages and our indications and results for the lateralarm flap in intraoral reconstruction.Material and methods. This is a prospective work on the use of thelateral arm free flap for the reconstruction of oral cavity defects afterablative surgery. The parameters that have been evaluated are: flapviability, morbidity in the donor site, length of the pedicle, selectionof recipient vessels, complications and functional results in thereconstructed area.Results. The lateral arm flap has been used in primary reconstructionafter ablative surgery for squamous cell carcinoma of the oral cavityin ten patients. One flap was lost because of venous thrombosis.The donor site was repaired by direct closure in 8 cases and a splitthickness skin graft had to be used in 2 cases. Mean pedicle lengthwas 8.75 cm. In 9 cases a favorable functional result was achieved.Conclusions. Fasciocutaneous lateral arm flap allows thereconstruction of oral cavity defects achieving good functional results.Morbidity in the donor site is minimal and, in most cases, directclosure permits the repair of the donor site(AU)


Subject(s)
Humans , Plastic Surgery Procedures/methods , Oral Surgical Procedures/methods , Surgical Flaps , Mouth/injuries , Arm , Prospective Studies , Skin Transplantation/methods
7.
Rev. esp. cir. oral maxilofac ; 30(3): 180-184, mayo-jun. 2008. ilus
Article in Spanish | IBECS | ID: ibc-74679

ABSTRACT

El tumor fibroso solitario (TFS) es una neoplasia de partes blandascompuesta por células fusiformes, que principalmente se origina en lassuperficies mesoteliales. Generalmente tiene una localización intratorácica yla afectación de la cavidad oral es excepcional. Clínicamente el TFS intraoralsuele presentarse como una masa móvil, submucosa, no dolorosa, bien circunscrita,de lento crecimiento. El diagnóstico se obtiene mediante al análisishistopatológico e inmunohistoquímico. Histológicamente se caracterizapor una disposición variable de células fusiformes ovoides, generalmentepositivas para el marcador CD34. El tratamiento de elección es la extirpaciónquirúrgica de la lesión, recomendándose un seguimiento postoperatorio alargo plazo por la posibilidad de aparición de recurrencias y metástasis tardías.Presentamos un caso de TFS intraoral, localizado en el fondo del vestíbulomandibular. Un año después de la resección quirúrgica de la lesión, no haysignos de recidiva local o regional. Asimismo, realizamos una revisión de laliteratura(AU)


Solitary fibrous tumors (SFT) are spindle cell neoplasmsthat most often originate from mesothelial lined surfaces.Intrathoracic tumors are more common and oral mucosalinvolvement is uncommon. Clinically, intraoral SFT is usually apainless, well delimited, slow-growing, mobile submucosal mass.Diagnosis is based on immunohistochemical and histopathologicanalysis. Histologically, SFT is characterized by a variable provisionof spindle cells, which generally are CD34-positive. Resection is thetreatment of choice and long-term follow-up is recommended becauserecurrences and late metastases.We present a case of intraoral SFT of the mandibular vestibularsulcus. One year after surgical resection, there were no signs of localor regional recurrence. The literature was reviewed(AU)


Subject(s)
Humans , Male , Adult , Mouth Neoplasms/pathology , Solitary Fibrous Tumors/pathology , Mandibular Neoplasms/pathology , Immunohistochemistry/methods , Antigens, CD34/analysis
8.
Rev. esp. cir. oral maxilofac ; 29(5): 295-308, sept.-oct. 2007. tab, ilus
Article in Spanish | IBECS | ID: ibc-74643

ABSTRACT

Los bifosfonatos constituyen un grupo de fármacos inhibidoresde la resorción ósea, utilizados en el tratamiento de numerosas patologíascomo la osteoporosis, la enfermedad de Paget, el mieloma múltiple,la hipercalcemia maligna y las metástasis óseas asociadas al cáncer de mamao de próstata. El principal efecto farmacológico de los bifosfonatos es lainhibición de la resorción ósea, mediante una disminución de la actividadde los osteoclastos, sin intervenir en la formación y mineralización del hueso.Son fármacos utilizados a nivel mundial con unos claros beneficios contrastadosclínicamente. Numerosas publicaciones durante los últimos tresaños, y debido a su utilización masiva, consideran que la osteonecrosisde los maxilares está asociada al tratamiento con bifosfonatos.Es importante que los pacientes sean informados del riesgo de presentarseesta complicación, para tener la oportunidad de someterse a procedimientosdentales previos al inicio del tratamiento. Las medidas preventivasdeben realizarse antes, durante y después del tratamiento con bifosfonatos.El tratamiento quirúrgico debe reservarse para aquellos pacientesque presenten síntomas. Son necesarias nuevas investigaciones que clarifiquenesta complicación(AU)


Bisphosphonates constitute a group of inhibitors of boneresorption that are used for treating many disor-ders such asosteoporosis, Paget’s disease, multiple myeloma, malignanthypercalcemia and bone metas-tases associated with breast andprostate cancer. The main pharmacological effect of bisphosphonatesis the inhibition of bone resorption, mediated by a decreased functionof osteoclasts without interfering in bone formation andmineralization.These drugs are used worldwide, with clear and clinically provenbenefits. Several publications within the last three years considerosteonecrosis of the jaw to be associated with bisphosphonatetherapy as a result of their extensive use.It is important for patients to be informed of the risk of thiscomplication, so that they have the oppor-tunity to assess the needfor dental treatment before starting therapy. Preventive measuresmust be taken before, during, and after treatment withbisphosphonates. Surgical treatment should be reserved for thosepatients who are symptomatic. Further investigation is needed tocompletely elucidate this complication(AU)


Subject(s)
Humans , Osteonecrosis/chemically induced , Diphosphonates/adverse effects , Jaw , Risk Factors , Disease Prevention , Bone Resorption/drug therapy
9.
Rev. esp. cir. oral maxilofac ; 27(6): 354-359, nov.-dic. 2005. ilus
Article in Es | IBECS | ID: ibc-66399

ABSTRACT

El pilomatrixoma es un tumor benigno de la piel que procede de la matriz celular del folículo piloso. Se localiza preferentemente en la cara y cuello. Clínicamente se presenta como un nódulo subcutáneo solitario y firme, no doloroso y de lento crecimiento. El tratamiento de elección es la resección quirúrgica.La PAAF (Punción Aspiración con Aguja Fina), como prueba diagnóstica prequirúrgica, puede hacer confundir el pilomatrixoma con un tumor maligno por la alta concentración de células, junto a la presencia de célulasaisladas con una tasa aumentada de la relación núcleo/citoplasma. Presentamos un caso clínico de pilomatrixoma cuyo diagnóstico inicial, trasla PAAF, fue tumor epitelial maligno de bajo grado. Asimismo, realizamos una revisión de la literatura


Pilomatrixoma is a benign skin neoplasm that arises fromhair follicle matrix cells. The most common anatomical location is the head and neck region. Clinically, it manifests as a firm, solitary, slow-growing, painless nodule of the dermis. Complete surgical excisionis the treatment of choice.With FNAB (Fine Needle Aspiration Biopsy) as a presurgical diagnostic test, the highly cellular smear with isolated cells showing a high nuclear/cytoplasmic ratio can be mistaken for a malignant tumor. We report a case of pilomatrixoma with an initial diagnosis,after the FNAB, of low-grade malignant epithelial tumor. Also, a review of the literature is made (AU)


Subject(s)
Humans , Female , Adolescent , Pilomatrixoma/pathology , Biopsy, Fine-Needle/methods , Diagnosis, Differential , Carcinoma/diagnosis
11.
Rev. esp. cir. oral maxilofac ; 26(6): 384-392, nov.-dic. 2004. ilus, tab, graf
Article in En | IBECS | ID: ibc-37343

ABSTRACT

Los neurilemomas son tumores neurogénicos benignos, con origen en la vaina neural. De los neurilemomas extracraneales, aproximadamente un 25 a un 45 por ciento ocurren en cabeza y cuello. La edad de afectación predominante es entre la tercera y la cuarta décadas de vida. El neurilemoma es un tumor claramente circunscrito y, generalmente, de pequeño tamaño. Clínicamente aparece como una masa de crecimiento lento y gradual. El examen microscópico es necesario para el diagnóstico. El tratamiento de elección es la escisión quirúrgica completa tumoral y después de ésta es muy rara su recurrencia.El propósito de este artículo es presentar un estudio retrospectivo, de nueve casos, de neurilemomas de cavidad oral y cuello, tratados en nuestro servicio de Cirugía Oral y Maxilofacial, entre 1997 y 2001. Hemos valorado una serie de parámetros epidemiológicos (edad, sexo, localización, tamaño, clínica, estudios previos a la cirugía, tiempo trascurrido entre aparición de síntomas y primera consulta, nervio de origen, patrón histológico predominante (Antoni A, Antoni B), y evolución postquirúrgica. Se ha realizado una revisión de la literatura (AU)


Subject(s)
Adolescent , Adult , Aged , Female , Male , Humans , Neurilemmoma/surgery , Mouth Neoplasms/surgery , Retrospective Studies , Postoperative Complications/epidemiology , Neurilemmoma/epidemiology
12.
Rev. esp. cir. oral maxilofac ; 25(3): 165-169, mayo-jun. 2003. ilus
Article in Es | IBECS | ID: ibc-28005

ABSTRACT

La enfermedad de Madelung se caracteriza por la presencia de un acúmulo de grasa, no encapsulada, de distribución simétrica, generalmente de localización cervical. Se trata de una enfermedad de etiología desconocida. Su incidencia es mayor en el sexo masculino y en el area mediterránea, con edades de aparición comprendidas entre los 30 y los 60 años. Existe una fuerte correlación con el consumo abusivo de alcohol. El diagnóstico de la enfermedad es eminentemente clínico. El tratamiento de elección es la resección quirúrgica.El propósito de este artículo es presentar un nuevo caso de enfermedad de Madelung, así como la revisión de la literatura existente. (AU)


Subject(s)
Male , Middle Aged , Humans , Lipomatosis, Multiple Symmetrical/diagnosis , Lipomatosis, Multiple Symmetrical/surgery , Tomography, X-Ray Computed , Lipomatosis, Multiple Symmetrical/etiology , Alcoholism/complications
13.
Skeletal Radiol ; 27(3): 161-3, 1998 Mar.
Article in English | MEDLINE | ID: mdl-9554008

ABSTRACT

A 33-year-old patient with a 2-year history of intermittent pain in the right gluteal region and thigh presented with a large sclerotic lesion of the iliac bone. From the findings on radiography, scintigraphy, CT and MRI, a giant parosteal osteoma was suspected. The histological examination confirmed the diagnosis. Since the lesion was extensive it was observed with periodic follow-up examinations. At present, 5 years after the diagnosis, the patient is asymptomatic and imaging studies show that the lesion persists with reduction of sclerosis and size. The tumor was on the surface as well as intramedullary--only one other case with such a distribution is known to us--and it was also in the iliac bone.


Subject(s)
Bone Neoplasms , Ilium , Osteoma , Adult , Bone Neoplasms/diagnosis , Bone Neoplasms/epidemiology , Diagnostic Imaging , Humans , Ilium/pathology , Male , Osteoma/diagnosis , Osteoma/epidemiology
14.
Fungal Genet Biol ; 25(3): 204-15, 1998 Dec.
Article in English | MEDLINE | ID: mdl-9917374

ABSTRACT

A saturable and accumulative transport system for pyruvate has been detected in Phycomyces blakesleeanus NRRL 1555(-) mycelium. It was strongly inhibited by alpha-cyano-4-hydroxycinnamate. l-Lactate and acetate were competitive inhibitors of pyruvate transport. The initial pyruvate uptake velocity and accumulation ratio was dependent on the external pH. The Vmax of transport greatly decreased with increasing pH, whereas the affinity of the carrier for pyruvate was not affected. The pyruvate transport system mediated its homologous exchange, which was essentially pH independent, and efflux, which increased with increasing external pH. The uptake of pyruvate was energy dependent and was strongly inhibited by inhibitors of oxidative phosphorylation and of the formation of proton gradients. Glucose counteracted the inhibitory effect of the pyruvate transport produced by inhibitors of mitochondrial ATP synthesis. Our results are consistent with a pyruvate/proton cotransport in P. blakesleeanus probably driven by an electrochemical gradient of H+ generated by a plasma membrane H+-ATPase.


Subject(s)
Phycomyces/metabolism , Pyruvates/metabolism , Acetates/metabolism , Anti-Bacterial Agents/pharmacology , Antifungal Agents/pharmacology , Antimycin A/pharmacology , Biological Transport , Coumaric Acids/pharmacology , Glucose/pharmacology , Hydrogen-Ion Concentration , Ionophores/pharmacology , Kinetics , Lactates/metabolism , Oligomycins/pharmacology , Phycomyces/drug effects , Phycomyces/growth & development , Time Factors
16.
Rev Neurol ; 23(121): 644-7, 1995.
Article in Spanish | MEDLINE | ID: mdl-8597987

ABSTRACT

Our aim was to study the incidence rate of the X-fragile syndrome among the male employees throughout Spain and that of the physically handicapped dependants of those workers at the Spanish National Telephone Company (TESA), this last goal being to offer genetic counselling to their families. The method used was to check the census of the Telephone Company Handicapped Assistance Association (ATAM), which embraces all handicapped dependents of TESA employees. 386 mentally backward (IQ under 70) males were found. A cytogenic study was offered to all those cases of unknown etiology. A total of 49 cases (12.7%) without any data to lead us into thinking of other etiological factors refused to take part. Molecular genetic studies were carried out on families with male members diagnosed as having X-fragile syndrome. The results were as follows: the total number of patients suffering with this syndrome was eleven. The incidence rates of X-fragile syndrome in the group studied was 14.3/386 (3.7% of mentally backward males). Molecular genetics was more sensitive than cytogenetics in diagnosing the state of mother and sister carriers.


Subject(s)
Fragile X Syndrome/epidemiology , Telecommunications , Adolescent , Blotting, Southern , Child, Preschool , DNA/analysis , Electrophoresis, Agar Gel , Female , Fragile X Syndrome/genetics , Humans , Incidence , Intellectual Disability/epidemiology , Intellectual Disability/genetics , Male , Spain/epidemiology
18.
Clin Genet ; 45(4): 186-9, 1994 Apr.
Article in English | MEDLINE | ID: mdl-8062436

ABSTRACT

A mentally retarded male with Martin-Bell syndrome, who has an extra microchromosome and is fra X negative in cytogenetic study is reported. Because of its small size, the origin of the microchromosome could not be determined. Two other affected males in this family (a cousin and a nephew of the proband) were fragile X positive, 24% and 26%, respectively. Cytogenetic studies and DNA analysis with the probe St B 12.3 were performed on several members of the family. The proband and the two other affected males showed a similar full mutation on the molecular study. This study emphasizes the importance of molecular analysis in the diagnosis of fragile X syndrome, particularly when cytogenetic studies demonstrate fra X negative in individuals in families likely to have X-linked mental retardation.


Subject(s)
Chromosome Fragility , Fragile X Syndrome/genetics , X Chromosome , Adult , Animals , Blotting, Southern , Chromosome Banding , Cricetinae , Cytogenetics , DNA Probes , Humans , Intellectual Disability/genetics , Karyotyping , Male , Pedigree
19.
Rev Clin Esp ; 193(8): 435-7, 1993 Nov.
Article in Spanish | MEDLINE | ID: mdl-8115697

ABSTRACT

We present four patients with pancoast tumor diagnosed between 6 to 13 months after the appearance of symptoms. In three of the patients, the presence of old pulmonary apical fibrous lesions complicated diagnosis by simple radiology. Clinical suspicion of the tumor provided the basis for further complementary explorations which confirmed the apical lesion: TC in two patients and RM in the third. Three patients histological diagnosis was obtained by aspirative transthoracic punction. The late diagnosis resulted in the treatment being purely palliative in three cases. It should be stressed that when presented with persistent shoulder pain, clinicoradiological assessment need to be exhaustive in order to make an early diagnosis.


Subject(s)
Pancoast Syndrome/diagnosis , Adult , Aged , Humans , Male , Middle Aged
20.
Rev Laryngol Otol Rhinol (Bord) ; 113(5): 383-5, 1992.
Article in French | MEDLINE | ID: mdl-1344559

ABSTRACT

It is frequently shown by the specialist, the relation exists between an obstructive septal deviation and the bad function of the Eustachian tube. Nasal physiopathology, as regulator of the tubaric function has been established as a controversial subject during the past two decades. This research demonstrates the relation between the septal deviation and tubaric pathology.


Subject(s)
Ear Diseases/physiopathology , Eustachian Tube , Nasal Obstruction/physiopathology , Nasal Septum , Acoustic Impedance Tests , Ear Diseases/etiology , Humans , Manometry , Nasal Obstruction/complications , Prospective Studies
SELECTION OF CITATIONS
SEARCH DETAIL
...