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2.
West Indian Med J ; 63(5): 503-9, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25781290

RESUMEN

OBJECTIVE: To analyse the dimensions of interantral bone available for dental implant placement in the fully edentulous maxilla. METHODS: Interantral bone height (IBH) was measured using panoramic radiography and computed tomography (CT). Interantral bone width (IBW) was measured by means of CT. RESULTS: The difference between both imaging methods in IBH assessment was highly statistically significant (p < 0.001) in the canine area, whereas in other areas it was found not to be significant. Measured in the CT scans, bone is significantly higher in the canine area compared to the area of central and lateral incisors (p < 0.001). Significant variations in IBW were found in all three locations: bone in the central incisor area is the widest, in the area of the lateral incisor, the narrowest (p < 0.001). CONCLUSIONS: Panoramic radiography is a sufficiently accurate method for IBH imaging in the incisor area, but not in the canine area.

3.
Horm Metab Res ; 44(9): 704-7, 2012 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-22696245

RESUMEN

Resistance to thyroid hormone (RTH) syndrome is caused by mutations in THRB gene and is inherited mainly as an autosomal dominant trait with dominant negative effect. Most of up-to-now described RTH cases were heterozygous. We studied a 19-year-old woman presenting severe mental impairment, hyperkinetic behavior, learning disability, hearing loss, tachycardia, goiter, strabismus, nystagmus, and normal stature. The laboratory findings revealed elevated TSH, T3, and T4 serum levels. Her parents were healthy with normal serum level of TSH, fT3, and fT4. Sequence based prediction of a substitution was analyzed by SDM, PolPhen, and SNAP software whereas structural visualizations were performed in UCSF Chimera. We found a novel mutation in THRB gene in position 1216 (G to A transition, codon 311) resulting in novel Glu-311-Lys (p.E311K) substitution, homozygous in proband presenting with severe symptoms of RTH and heterozygous in both of her healthy parents, thus suggesting autosomal recessive mode of inheritance. p.E311K substitution was not found in 50 healthy, unrelated individuals. p.E311K was shown to be deleterious by SDM, PolPhen, and SNAP software. Structural visualizations of mutated protein performed by UCSF Chimera software disclosed a loss of hydrogen bonds between E311, R383, and R429 along with abnormal residue-residue contact between K311 and L377. This is a very rare case of a homozygous mutation in a patient with severe symptoms of RTH and lack of symptoms in both heterozygous parents. Although, computational analyses have provided the evidence that p.E311K substitution may affect THRB function, lack of dominant negative effect typical for THRB mutations could not be explained by structure-based modeling. Further in vitro analysis is required to assess the functional consequences of this substitution.


Asunto(s)
Mutación Missense , Receptores beta de Hormona Tiroidea/genética , Síndrome de Resistencia a Hormonas Tiroideas/genética , Adulto , Secuencia de Aminoácidos , Femenino , Genes Recesivos , Humanos , Masculino , Datos de Secuencia Molecular , Mutación Puntual , Alineación de Secuencia , Receptores beta de Hormona Tiroidea/química , Receptores beta de Hormona Tiroidea/metabolismo , Síndrome de Resistencia a Hormonas Tiroideas/congénito , Síndrome de Resistencia a Hormonas Tiroideas/metabolismo , Adulto Joven
4.
Vnitr Lek ; 58(2): 154-61, 2012 Feb.
Artículo en Checo | MEDLINE | ID: mdl-22463097

RESUMEN

Although tumours of the thymus are rare, they are common among neoplasms of the anterior superior mediastinum. They usually exhibit indolent behavior, but do have the capacity to invade surrouding structures. Their metastatic potential is low. Paraneoplastic complications including autoimmune disorders (frequently myastenia, cytopenia) or combined immunodeficiency are of clinical significance. Here we report two case reports of thymoma patients associated with secondary immunodeficiency known as Goods syndrom. The first case exhibited as symptomatic combinated immunodeficiency with oral lichen planus. Thymoma findings was accidental. Severity of immunodeficiency required long-term intravenous immunoglobulins supplementations, even after complete surgical resection. On the other hand, the second case manifested by signs of advanced local tumour growth. Antibiotic prophylaxis was selected as immunodeficiency treatment.


Asunto(s)
Agammaglobulinemia/diagnóstico , Timoma/diagnóstico , Neoplasias del Timo/diagnóstico , Anciano , Femenino , Humanos , Liquen Plano Oral/diagnóstico , Persona de Mediana Edad , Síndrome
5.
Bratisl Lek Listy ; 113(4): 249-50, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22502760

RESUMEN

OBJECTIVE: To present a single case report on successful radiotherapy treatment of lacrimal gland infiltration in patient with Sjögren΄s syndrome. BACKGROUND: Radiotherapy is occasionally used for the treatment of benign disorders. There is no report on use of radiotherapy for local treatment of the Sjögren΄s syndrome in the literature. METHODS: Female patient with lacrimal gland involvement as a part of Sjögren΄s syndrome with diplopia and visus deterioration was treated by radiotherapy with eye shielding. RESULTS: Regression of the infiltration with full restoration of visus and minimal acute radiation reaction was achieved. CONCLUSION: A case report of successful use of local radiotherapy in the treatment of lacrimal gland affected by Sjögren΄s syndrome is presented (Fig. 3, Ref. 6). Full Text in PDF www.elis.sk.


Asunto(s)
Enfermedades del Aparato Lagrimal/radioterapia , Síndrome de Sjögren/radioterapia , Adulto , Femenino , Humanos
6.
Vnitr Lek ; 57(4): 339-46, 2011 Apr.
Artículo en Checo | MEDLINE | ID: mdl-21612055

RESUMEN

Diseases of salivary glands may be associated with salivary flow rate disturbances. Production of the saliva is evaluated by sialometric tests. The stress is putted on salivary flow rate disturbances in Sjögren's syndrome, drug-induced and postirradiative sialopathy, and diabetes mellitus. The possibility of the stimulation and substitution of the saliva is discussed.


Asunto(s)
Complicaciones de la Diabetes/fisiopatología , Saliva/metabolismo , Síndrome de Sjögren/fisiopatología , Xerostomía/fisiopatología , Humanos , Enfermedades de las Glándulas Salivales/fisiopatología , Síndrome de Sjögren/complicaciones , Xerostomía/complicaciones
7.
J Appl Genet ; 51(3): 331-5, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20720308

RESUMEN

We report on a 13-month-old girl showing dysmorphic features and a delay in psychomotor development. She was diagnosed with a balanced de novo translocation 46,X,t(X;13)(p11.2;p13) and non-random inactivation of the X chromosome. FISH analysis, employing the X chromosome centromere and XIST-region-specific probes, showed that the XIST locus was not involved in the translocation. Selective inactivation of paternal X, which was involved in translocation, was revealed by the HUMARA assay. The pattern of methylation of 5 genes located within Xp, which are normally silenced on an inactive X chromosome, corresponded to an active (unmethylated) X chromosome. These results revealed that in our proband the X chromosome involved in translocation (Xt) was preferentially inactivated. However, genes located on the translocated Xp did not include XIST. This resulted in functional Xp disomy, which most probably accounts for the abnormal phenotype in our patient.


Asunto(s)
Cromosomas Humanos Par 13/genética , Cromosomas Humanos X/genética , Metilación de ADN/genética , Duplicación de Gen , Aberraciones Cromosómicas Sexuales , Translocación Genética , Femenino , Humanos , Hibridación Fluorescente in Situ , Lactante , Recién Nacido , Cariotipificación , Fenotipo , ARN Largo no Codificante , ARN no Traducido/genética , Disomía Uniparental/genética , Inactivación del Cromosoma X/genética
8.
Prague Med Rep ; 109(1): 71-82, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-19097392

RESUMEN

The primary objective of this in vitro study was to compare the absolute marginal discrepancy (AMD) of CAD/CAM produced Procera AllCeram crown copings, fabricated on die stone master models of two different tooth groups, incisor and molar. Two maxillary central incisors and two first molars typodont teeth were prepared with 0.8 mm of circumferential chamfer, duplicated 9 times to obtain 36 die stone models and allotted into three groups of 12 models (incisors = 6 & molars = 6). Procera AllCeram 0.6 mm copings were fixed with zinc phosphate (AZ), glass ionomer (AG) and resin (AR) cement accordingly under 50 N static finger force. The AMDs were measured using the scanning electron microscope (SEM) on four axial walls with 4 measurements on each wall to obtain 16 readings for one tooth. Statistical analysis of the data was performed using the non-parametric test of Kruskal-Wallis and Mann-Whitney test. The analysis did not find any significant differences in the mean AMD of incisor and molar crown copings, and in different axial surfaces too (p < or = 0.05). Recorded mean AMD of incisor copings were AZ group 59 microm, AG 37.9 microm, and AR 44.4 microm and molar copings were AZ 48.8 microm, AG 27 microm, and AR 50.2 microm. It can be concluded that AMD of Procera AllCeram copings were within accepted level of 100 microm. Incisors showed higher AMD than molars. Molars demonstrated the higher AMD on mid-distal and mid-lingual surfaces whereas for incisor it was mid-buccal and mid-lingual surface.


Asunto(s)
Óxido de Aluminio , Coronas , Adaptación Marginal Dental , Porcelana Dental , Humanos , Incisivo , Diente Molar
9.
Ghana Med J ; 42(3): 124-8, 2008 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-19274113

RESUMEN

A 16-year old girl presented with rapid onset of muscular weakness and a history of severe dysphagia, dysphonia and significant wasting. On examination, she was dystrophic (BMI 15.7) and had signs of myopathy. Laboratory findings confirmed myopathy (CPK 106.4 microkat/L (6384 IU/L), AST 2.86 microkat/L (171.6 IU/L), myoglobin 1582 microg/L). There was profound hypokalaemia (S-K 1.8 mmol/L) suggesting hypokalaemic paralysis. Diagnosis of distal renal tubular acidosis (dRTA) was based on combination of hyperchloremic metabolic acidosis, severe hypokalaemia, high urinary pH and positive value of urinary anion gap. There was evidence of other signs of renal tubular impairment (urinary beta-2-microglobulin 213 mg/L, glomerulotubular proteinuria 1.01g/24h). Autoimmune tests (rheumatoid factor, antinuclear antibodies, autoantibodies to Ro/SSA and La/SSB) together with symptoms of xerostomia with swallowing difficulties and atrophic glossitis suggested primary Sjogren's syndrome (SS) as the underlying cause of dRTA. The renal biopsy confirmed chronic tubulo-interstitial nephritis compatible with this diagnosis. Full recovery of muscle weakness and hypokalaemia and acidosis followed after potassium and alkali replacement therapy. Corticosteroids were administered with subsequent addition of cyclosporine A because of disease activity. In conclusion, primary SS is a rare diagnosis in childhood and adolescence and should be considered in patients presenting with hypokalaemic paralysis, as this might be due to dRTA, even in the absence of apparent sicca syndrome.

10.
Cesk Patol ; 43(2): 68-72, 2007 Apr.
Artículo en Checo | MEDLINE | ID: mdl-17623980

RESUMEN

A 62-year-old man was referred to the Department of Dentistry because of ultrasonographic finding of "cystoid lesion with relationship to right parotid gland". During operation, a tumor mass without any relationship to parotid gland but attached to the right internal carotid artery was found. Grossly, the tumor was well circumscribed, spheric, measuring 40 mm in diameter; it was of solid, firm appearance and tan-to-white color on cross section. Microscopically, the tumor cells were round to spindle-shaped with vesicular nuclei and eosinophilic cytoplasm, arranged in fascicular pattern. Immunohistochemically, the cells expressed vimentin, CD 34, smooth muscle actin, and bcl-2 protein. On the basis of microscopical appearance and results of immunohistochemistry, the diagnosis of solitary fibrous tumor (cellular variant) was established. One year after resection, the patient is free of disease. A new concept of this uncommon mesenchymal tumor is discussed.


Asunto(s)
Fibroma/patología , Neoplasias de Cabeza y Cuello/patología , Quistes/diagnóstico , Diagnóstico Diferencial , Hemangiopericitoma/patología , Humanos , Masculino , Persona de Mediana Edad , Cuello
11.
Cesk Patol ; 42(3): 150-3, 2006 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-16955564

RESUMEN

A case of a 24-year-old woman with a 6 weeks lasting nodule of the right margin of the tongue is described. The nodule was 20 mm in diameter and showed surface ulceration. The diagnosis of low grade myofibroblastic sarcoma was supported by histological, immunohistochemical and electronmicroscopic examination. Although the tumor resection was not complete, the patient is free of disease 1 year after operation. The differential diagnostics of low grade myofibroblastic sarcoma is discussed.


Asunto(s)
Sarcoma/patología , Neoplasias de la Lengua/patología , Adulto , Diagnóstico Diferencial , Femenino , Humanos , Miosarcoma/diagnóstico , Miosarcoma/patología , Sarcoma/diagnóstico , Neoplasias de la Lengua/diagnóstico
12.
Cesk Slov Oftalmol ; 62(3): 183-9, 2006 May.
Artículo en Checo | MEDLINE | ID: mdl-16758758

RESUMEN

UNLABELLED: The aim of the study was to determine exact visual functions (log MAR [minimal angle of resolution] and CS [contrast sensitivity]) and to evaluate corneal topographic maps in patients with established (by means of laboratory and biopsy examinations) Sjogren's Syndrome, and to determine the difference in subjective symptoms before and after insertion of the intracanalicular implants as well. PATIENTS AND METHODS: Twelve eyes (1 man, 6 women) with established Sjogren's syndrome were examined before and during two months after the insertion of the plugs. The best-corrected visual acuity (BCVA) was assessed on Landolt C rings optotypes. CS was measured on computer-controlled device (Neuroscientific Corp., U.S.A.) in 6 space-frequencies (0.74-29.55 c/deg). The corneal topographic changes (Keraton Opticon) were established by means of comparing total aberrations values before and after the intracanalicular implants' (Smart Plugs type) insertion. The control group for visual functions assessment consisted of 10 woman (20 eyes) of similar middle age. RESULTS: The BCVA on log MAR optotypes was 0.84 (0.69-0.95) before and 0.88 (0.52-1.23) after the insertion, on both occasions, it was lower than in the control group. The CS was before the insertion in all of the spatial frequencies lower, the largest differences were in the frequencies range 1.97-7.29 c/deg (p < 0.01). After the treatment, the values grow but they don't reach the values of the control group. Subjective complains of the patients decreased markedly; in 100% they had relief, in 3 cases they referred improvement up to 50%; no patient observed tearing. The frequency of drops' application has decreased by 63%. The Schirmer test, in 100% positive before the treatment, was after the insertion in 75% negative; the height of the tear-meniscus was positive in 100% before the procedure, and after that, its measurement improved to 1 mm in 91%; in 9% it was 1.5 mm. We also noticed changes of the ocular surface by means of lissamine green staining; this test was before the procedure positive in 100%, the improvement after that was in 63%. The regularity of the corneal surface is the determining factor of visual functions in "dry eyes". The measurement of the corneal topography is useful in differential diagnosis and helps to distinguish mild and more serious conditions of dry eye. The improvement of BCVA and CS values after insertion corresponds with patients' subjective evaluating. The best value of the treatment is improvement of the patients' comfort; furthermore, after insertion of the permanent plugs they feel pronounced subjective relief and lowering of the frequency of drops application.


Asunto(s)
Prótesis e Implantes , Síndrome de Sjögren/complicaciones , Agudeza Visual , Xeroftalmia/terapia , Adulto , Anciano , Sensibilidad de Contraste , Topografía de la Córnea , Femenino , Humanos , Masculino , Persona de Mediana Edad , Xeroftalmia/etiología , Xeroftalmia/fisiopatología
13.
Eur J Dent Educ ; 8 Suppl 4: 36-41, 2004 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-14725652

RESUMEN

Smoking education has been included in the curricula in all the medical faculties of the Czech Republic, although the scope of the education varies. At each of the faculties, a member of the staff has been appointed as co-ordinator of smoking education. These coordinators promote a sharing of experience and distribution of teaching materials. At the majority of faculties, obligatory workshops are held for all students to learn about smoking and smoking treatment within the framework of preventive medicine. In addition, selected students undertake selected studies on smoking and health as part of their research. At the Medical Faculty of Masaryk University, Brno, smoking education is included in the majority of theoretical and clinical subjects and its effectiveness is repeatedly assessed during the 6-year course study by testing the students' knowledge and smoking behaviour. The evaluation provides a basis for further modification and improvement of the education. Currently, a fundamental transformation of dental education is being undertaken in all medical faculties of the Czech Republic. These new curricula will benefit from the curriculum of the Medical Faculty, at Hradec Králové, where the changes that were made 5 years ago involve theoretical and practical education in the risks of smoking for oral health throughout the 5-year stomatology courses. Postgraduate medical education involves professional 2-day seminars for general practitioners on approaches to smoking cessation and smoking dependence treatment, and professional materials such as smoking cessation guidelines are published in medical and specialist journals.


Asunto(s)
Educación en Odontología , Educación Médica , Facultades de Odontología , Facultades de Medicina , Prevención del Hábito de Fumar , Actitud Frente a la Salud , Curriculum , República Checa , Educación de Posgrado en Odontología , Educación de Postgrado en Medicina , Femenino , Humanos , Masculino , Cese del Hábito de Fumar , Enseñanza/métodos , Materiales de Enseñanza
14.
Gynecol Endocrinol ; 16(4): 331-4, 2002 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-12396562

RESUMEN

We present an unusual coincidence of acromegaly and Turner's syndrome. A girl was diagnosed with Turner's syndrome when she presented with short stature, primary amenorrhea, Hashimoto's thyroiditis, and some heart and renal anomalies. No therapy with growth hormone and only a few months treatment with estrogen-progestin was given. A typical picture of acromegaly occurred in the third decade of her life. Bone radiographs and densitometry suggested the more pronounced influence of acromegaly within the skeleton, but no features typical for acromegaly were found in the cardiovascular system. To our knowledge no case of coincidence of the above mentioned conditions has been reported to date. The influence of both of these conditions on bones and heart is discussed.


Asunto(s)
Acromegalia/diagnóstico , Síndrome de Turner/complicaciones , Acromegalia/complicaciones , Adulto , Aorta/fisiopatología , Densidad Ósea , Ecocardiografía , Femenino , Huesos del Pie/diagnóstico por imagen , Corazón/fisiopatología , Humanos , Riñón/diagnóstico por imagen , Imagen por Resonancia Magnética , Metacarpo/diagnóstico por imagen , Insuficiencia de la Válvula Mitral/diagnóstico por imagen , Mosaicismo , Osteoporosis/diagnóstico por imagen , Osteoporosis/etiología , Adenohipófisis , Neoplasias Hipofisarias/diagnóstico , Radiografía , Radio (Anatomía)/diagnóstico por imagen , Síndrome de Turner/genética , Cromosoma X
15.
Pol Merkur Lekarski ; 9(50): 568-71, 2000 Aug.
Artículo en Polaco | MEDLINE | ID: mdl-11081328

RESUMEN

Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.


Asunto(s)
Síndrome de Poland/diagnóstico , Adulto , Femenino , Humanos , Incidencia , Masculino , Síndrome de Poland/epidemiología , Síndrome de Poland/genética , Embarazo , Efectos Tardíos de la Exposición Prenatal , Distribución por Sexo , Contaminación por Humo de Tabaco/efectos adversos
16.
Ginekol Pol ; 70(9): 610-6, 1999 Sep.
Artículo en Polaco | MEDLINE | ID: mdl-10534924

RESUMEN

Turner Syndrome (TS) is the only one monosomy that occurrs+ in humans. The cytogenetics of TS is very well known from years. It has been estimated that almost 98-99% of TS foetuses end in abortion. It was suggested that the monosomy arises relatively late during embryonal development and survived TS individuals could be mosaics. It has been proved that mosaic karyotype mos 45,X/46X, + mar(Y) occurrs++ in 2% to 11% of TS patients. The patients having additional cell line containing der(Y) are at increased risk of gonadoblastoma development. In these cases gonadectomy should be considered. Therefore detection of mosaic and establishing the origin of marker chromosome (specially containing Y-specific sequences) is of special importance. The aim of present study was to detect the small mosaics, containing mar(Y) in TS patients, by using PCR and FISH techniques. Eight Y sequences for the PCR analyses as well as bicolor in situ hybridisation with painting probes for Y and X chromosomes have been applied. The positive amplification for Y-specific sequences has been detected in 7% of TS patients. Our results support the thesis that searching for the Y sequences should be introduced to routine genetic TS diagnosis.


Asunto(s)
Síndrome de Turner/genética , Cromosoma Y/genética , Adolescente , Deleción Cromosómica , Femenino , Humanos , Lactante , Cariotipificación , Análisis de Secuencia de ADN , Cromosoma X/genética
17.
Acta Medica (Hradec Kralove) ; 42(3): 97-101, 1999.
Artículo en Inglés | MEDLINE | ID: mdl-10677896

RESUMEN

Sjögren's syndrome is a systemic autoimmune disease characterized by focal lymphocytic infiltration of the salivary and lacrimal glands. Expression and up-regulation of adhesion molecules and activation of cellular immune system is essential for the migration of inflammatory cells into tissues. Soluble forms of adhesion molecules sICAM-1, sVCAM-1, sE-selectin and neopterin were analyzed in serum of 17 patients with primary Sjögren's syndrome and 11 patients with secondary Sjögren's syndrome together with 26 age-matched healthy blood donors. There were significantly higher serum concentrations (mean +/- 1SD) of sICAM-1 (362.0 +/- 67.9 ng/ml, p < 0.001), sE-selectin (78.7 +/- 28.1 ng/ml, p < 0.001) and neopterin (17.9 +/- 6.4 nmol/l, p < 0.001) in primary Sjögren's syndrome patients in comparison to control group (sICAM-1: 128.3 +/- 46.9 ng/ml, sE-selectin: 46.3 +/- 39.5 ng/ml, and neopterin: 7.6 +/- 2.3 nmol/l). Sera from patients with secondary Sjögren's disease contained significantly higher levels of sICAM-1 (356.0 +/- 62.4 ng/ml, p < 0.001), sE-selectin (65.5 +/- 27.0 ng/ml, p < 0.05), and neopterin (18.8 +/- 9.8 nmol/l, p < 0.001) in comparison with control group. There were no significant differences between patients with primary and secondary Sjögren's syndrome in any parameters tested. No statistically significant differences in serum levels of sVCAM-1 were found either in patients with primary or secondary SS compared to control group.


Asunto(s)
Moléculas de Adhesión Celular/sangre , Neopterin/sangre , Síndrome de Sjögren/sangre , Adulto , Anciano , Anciano de 80 o más Años , Selectina E/sangre , Femenino , Humanos , Molécula 1 de Adhesión Intercelular/sangre , Masculino , Persona de Mediana Edad , Solubilidad , Molécula 1 de Adhesión Celular Vascular/sangre
18.
Ginekol Pol ; 69(3): 133-8, 1998 Mar.
Artículo en Polaco | MEDLINE | ID: mdl-9639978

RESUMEN

Androgen insensitivity syndrome (AIS) is caused by mutation in androgen receptor (AR) gene. This phenomenon leads to the defect of the virilization of the external genitalia and is one of the causes of human male pseudohermaphroditism. Molecular diagnosis of AR gene mutations is very complex because of heterogeneity of AR mutations. AIS is X-linked recessive trait and therefore the simple diagnosis of AIS carriers is a very important problem. Detection of AIS carriers by using the analysis of CAG repeating sequence polymorphism of exon 1 or AR gene is reported.


Asunto(s)
Síndrome de Resistencia Androgénica/genética , Andrógenos/genética , Tamización de Portadores Genéticos/métodos , Polimorfismo Genético/genética , Receptores Androgénicos/genética , Repeticiones de Trinucleótidos/genética , Adulto , Síndrome de Resistencia Androgénica/diagnóstico , Femenino , Pruebas Genéticas , Humanos , Masculino , Linaje
19.
Ginekol Pol ; 68(5A): 248-52, 1997 May.
Artículo en Polaco | MEDLINE | ID: mdl-9480240

RESUMEN

Cytogenetic studies were performed in 129 couples with the history of recurrent spontaneous miscarriages. In 8 couples (6.2%) chromosome aberrations were found The most frequent aberrations were reciprocal translocations (in 6 couples). Pericentric inversion of chromosome 9 was detected in 3 couples (2.3%) while the chromosome polymorphism was observed in 20% of analyzed cases.


Asunto(s)
Aborto Habitual/genética , Aberraciones Cromosómicas/genética , Cromosomas Humanos Par 9 , Adulto , Femenino , Humanos , Cariotipificación , Masculino , Polimorfismo Genético , Embarazo
20.
Clin Rheumatol ; 16(2): 149-53, 1997 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-9093796

RESUMEN

Sjögren's syndrome is a chronic inflammatory disease which is believed to be immunologically mediated. It is marked by inflammation and destruction of the salivary glands and lacrimal glands. We have found significantly higher serum levels of sICAM-1 and beta-2-microglobulin in both primary Sjögren's syndrome patients (429.1 +/- 114.33 ng/ml, 4.4 +/- 1.5 ug/ml resp.) and secondary Sjögren's syndrome patients (424 +/- 140.73 ng/ml, 4.4 +/- 2.67 ug/ml resp.) in comparison with healthy controls (189.1 +/- 42.34 ng/ml, 1.3 +/- 0.38 ug/ml resp.). The serum level of beta-2-microglobulin was significantly correlated with the serum level of sICAM-1 in secondary Sjögren's syndrome patients' group.


Asunto(s)
Molécula 1 de Adhesión Intercelular/sangre , Síndrome de Sjögren/sangre , Microglobulina beta-2/análisis , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad
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