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1.
Hum Reprod Open ; 2022(3): hoac032, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35928048

RESUMEN

STUDY QUESTION: When couples have to face recurrent pregnancy loss (RPL), what are the partners' wishes and needs and what is their perception of helpful and unhelpful factors with regard to their own, their partners' and their families' and friends' ways of dealing with the problem? SUMMARY ANSWER: Women and men with repeated miscarriages want open communication about their losses, but expect a sensitive and empathetic attitude from others, not pity or trivialization. WHAT IS KNOWN ALREADY: RPL not only causes the women affected and their partners considerable emotional distress; it also has an impact on the couples' relationships and the way they relate to their families and friends. Studies suggest that women have a greater need than their male partners to talk about their losses and that these differences may lead to dissatisfaction and cause relational tension. In addition, men often assume a 'mainstay' role, supporting their partners and displaying fortitude in the face of distress. As yet, however, little research has been conducted so far on the question of what the members of couples with RPL expect from one another and from their families and friends. STUDY DESIGN SIZE DURATION: The study sample consisted of 147 couples and 17 women with at least 2 miscarriages attending the special unit for RPL at the University Women's Hospital in Heidelberg (Germany) for the first time between September 2018 and October 2020 (response rate: 82.7%). The patients were asked to participate in this combined qualitative and questionnaire study. PARTICIPANTS/MATERIALS SETTING METHODS: In order to explore the wishes and needs of those affected in more detail, the free text responses obtained were examined in this study by using qualitative content analysis. Categories and subcategories were created inductively to summarize and systematize content. MAIN RESULTS AND THE ROLE OF CHANCE: Patients affected by RPL want their partners and their families and friends to deal with the topic openly and empathically. In the partnership itself, acceptance of individual grieving modes and sharing a common goal are important factors. Men, in particular, want their partners to be optimistic in facing up to the situation. Regarding communication with family and friends, it transpired that 'good advice', playing the matter down, inquiries about family planning, pity and special treatment are explicitly not appreciated. LIMITATIONS REASONS FOR CAUTION: The sample was a convenience sample, so self-selection effects cannot be excluded. In addition, the level of education in the sample was above average. Accordingly, the sample cannot be regarded as representative. The results of the content analysis are based on the respondents' written answers to open-ended questions in the questionnaire. Unlike qualitative interview studies, further questioning was not possible in the case of ambiguities or to request more details. WIDER IMPLICATIONS OF THE FINDINGS: Frank and sincere communication about miscarriages and about one's own emotions and needs should be promoted both in the partnership and among family members and friends in order to strengthen the potential of social support as a resource. Open communication about the different needs of both partners is necessary to create mutual understanding. The results show the importance not only of empathy and consideration for the couples concerned but also their desire not to be pitied. Striking a fine balance between fellow-feeling and pity may also lead to tension, and this potential dilemma should be addressed in psychosocial counselling. Overall, the study contributes to a better understanding of what couples want from their families and friends when they are attempting to come to terms with RPL and highlights potential challenges in the interaction between affected couples and their families and friends. STUDY FUNDING/COMPETING INTERESTS: No funding was received for this study. None of the authors declared any conflicts of interest. TRIAL REGISTRATION NUMBER: DRKS00014965.

2.
Arch Gynecol Obstet ; 299(5): 1337-1343, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-30905000

RESUMEN

INTRODUCTION: Pectopexy, a laparoscopic method for prolapse surgery, showed promising results in previous transient testing by this group. It was shown that a single suture, yielding an ultimate load of 35 N, was equivalent to continuous suturing. This was demonstrated in an in vitro cadaver study. This transient data were used to establish an elastic stress-strain envelope. It was now possible to proceed to dynamic in vitro analysis of this surgical method to establish time to functional stability. METHODS: Cyclic testing of this fixation method was performed on human female embalmed cadaver (cohort 1) and fresh, non-embalmed cadaver (cohort 2) pelvises. The testing envelope was 5-25 N at a speed of 1 mm/s. 100 load regulated cycles were applied. RESULTS: 100 cycles were completed with each model; no overall system failure occurred. Steady state, i.e., functional stability was reached after 14.5 (± 2.9) cycles for the embalmed group and after 19.1 (± 7.2) cycles for the non-embalmed group. This difference was statistically significant p = 0.00025. CONCLUSION: This trial showed in an in vitro cyclic testing of the pectopexy method that functional stability may be achieved after no more than 19.1 cycles of load exposure. When remaining within the established load envelope of below 25 N, patients do not need to fear global fixation failure. Testing did demonstrate differences in non-embalmed and embalmed cadaver testing. Embalmed cadaver testing tends to underestimate time to steady state by 26.3%.


Asunto(s)
Laparoscopía/métodos , Prolapso de Órgano Pélvico/cirugía , Anciano de 80 o más Años , Fenómenos Biomecánicos , Cadáver , Femenino , Estudios de Seguimiento , Humanos
3.
Phys Rev Lett ; 109(15): 157403, 2012 Oct 12.
Artículo en Inglés | MEDLINE | ID: mdl-23102368

RESUMEN

We report on magnetic field-induced oscillations of the photon echo signal from negatively charged excitons in a CdTe/(Cd,Mg)Te semiconductor quantum well. The oscillatory signal is due to Larmor precession of the electron spin about a transverse magnetic field and depends sensitively on the polarization configuration of the exciting and refocusing pulses. The echo amplitude can be fully tuned from the maximum down to zero depending on the time delay between the two pulses and the magnetic-field strength. The results are explained in terms of the optical Bloch equations accounting for the spin level structure of electrons and trions.

4.
Nat Commun ; 3: 959, 2012 Jul 17.
Artículo en Inglés | MEDLINE | ID: mdl-22805566

RESUMEN

Integration of magnetism into semiconductor electronics would facilitate an all-in-one-chip computer. Ferromagnet/bulk semiconductor hybrids have been, so far, mainly considered as key devices to read out the ferromagnetism by means of spin injection. Here we demonstrate that a Mn-based ferromagnetic layer acts as an orientation-dependent separator for carrier spins confined in a semiconductor quantum well that is set apart from the ferromagnet by a barrier only a few nanometers thick. By this spin-separation effect, a non-equilibrium electron-spin polarization is accumulated in the quantum well due to spin-dependent electron transfer to the ferromagnet. The significant advance of this hybrid design is that the excellent optical properties of the quantum well are maintained. This opens up the possibility of optical readout of the ferromagnet's magnetization and control of the non-equilibrium spin polarization in non-magnetic quantum wells.


Asunto(s)
Imanes/química , Semiconductores
5.
Arq. Inst. Biol. (Online) ; 77(4): 669-676, out.-dez. 2010. tab, graf
Artículo en Portugués | VETINDEX, LILACS | ID: biblio-1395470

RESUMEN

A adoção de práticas culturais como o consórcio de culturas e o tipo de irrigação podem beneficiar a comunidade de inimigos naturais no agroecossistema ao disponibilizar micro-habitas mais favoráveis e recursos alternativos, principalmente em períodos de baixa precipitação pluviométrica. O objetivo deste trabalho foi avaliar como o consórcio tomate + coentro e o tipo de irrigação (gotejamento e aspersão) podem beneficiar a comunidade de inimigos naturais no agroecossistema do tomateiro. O trabalho foi realizado no campo experimental da Embrapa Hortaliças, Gama, DF, de setembro a novembro de 2008. Os tomateiros foram plantados em monocultura ou consorciados com o coentro e irrigados por gotejamento e por aspersão (três repetições por tratamento), formando dois conjuntos de parcelas experimentais de acordo com o tipo de irrigação. A comunidade de inimigos naturais foi amostrada por observações diretas em 20 plantas de tomate por parcela e nas plantas de coentro sacudindo-se as plantas em cima de uma bandeja onde eram coletados os insetos. A abundância, riqueza e diversidade das espécies de inimigos naturais foram maiores nas parcelas cultivadas com coentro, independente do sistema de irrigação. Nas parcelas plantadas em monocultura foram encontradas mais espécies quando o tomateiro foi irrigado por aspersão. No entanto, a resposta de cada espécie de inimigo natural ou grupo de espécies foi distinta para o consórcio ou o tipo de irrigação. Portanto, em períodos de baixa precipitação, o consórcio tomate + coentro e a irrigação por aspersão podem favorecer a conservação de inimigos naturais no agroecossistema do tomateiro orgânico.


The adoption of cultural practices such as companion plants and the kind of irrigation system can benefit the community of natural enemies in the agroecosystem due to the increase of more favorable microhabitats available and as a source of alternative resources, mainly in periods of low precipitation. This study evaluated how the tomato + coriander intercrop and the kind of irrigation (drip and sprinkler) could benefit the community of natural enemies in the tomato agroecosystem. This work was carried out in the experimental field of Embrapa Hortaliças, Gama, DF, from September to November 2008. The tomatoes were planted in monoculture or with coriander (companion plant) and irrigated by drip and sprinkler irrigation (three replicates per treatment), forming two groups of experimental plots according to the kind of irrigation. The community of natural enemies was sampled by the direct observation of specimens on 20 tomatoes plants per plot and in the treatments. Coriander plants were shaken over a plastic tray for collection of insects. The abundance, richness and diversity of natural enemies were higher in tomato + coriander plots, regardless of the irrigation system. We observed more species of natural enemies in tomato monoculture plots when it was irrigated by sprinkler irrigation. However, the cultural practices adopted had a different effect on each species or group of species. Therefore, in periods of low precipitation, the tomato + coriander consortium associated with sprinkler irrigation can enhance the conservation of natural enemies in the organic tomato agroecosystem.


Asunto(s)
Control Biológico de Vectores/métodos , Solanum lycopersicum , Plagas Agrícolas , Coriandrum , Alimentos Orgánicos/análisis
6.
J Chem Phys ; 124(24): 244305, 2006 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-16821975

RESUMEN

The molecular beam electric resonance technique has been used to conduct a high precision examination of the hyperfine spectrum of the four isotopomers of RbCl. Coupling constants for the nuclear electric quadrupole interactions, the spin-rotation interactions, the tensor and scalar spin-spin interactions, and a rubidium nuclear octupole interaction, and their dependence on vibrational and rotational states have been determined. The dominant interaction, the rubidium nuclear electric quadrupole interaction, shows a small shift with substitution of the chlorine isotope.

8.
Am J Med Genet ; 83(1): 28-42, 1999 Mar 05.
Artículo en Inglés | MEDLINE | ID: mdl-10076882

RESUMEN

We describe two additional instances of atelosteogenesis, type III, in a woman and her son. Clinical and radiographic information concerning these individuals allows further definition of this rare skeletal dysplasia. This is the first documentation of survival to adulthood of an individual with this disorder, of prenatal diagnostic assessment of an affected individual, and of vertical transmission suggestive of autosomal dominant inheritance. The clinical and radiologic phenotype of atelosteogenesis, type III overlaps with that of another skeletal dysplasia, autosomal dominant Larsen syndrome; these most likely represent allelic conditions.


Asunto(s)
Huesos/anomalías , Genes Dominantes , Diagnóstico Prenatal , Adulto , Huesos/diagnóstico por imagen , Preescolar , Diagnóstico Diferencial , Enanismo , Femenino , Humanos , Masculino , Radiografía , Sobrevivientes , Síndrome , Tráquea/anomalías
9.
Am J Med Genet ; 80(3): 187-95, 1998 Nov 16.
Artículo en Inglés | MEDLINE | ID: mdl-9843035

RESUMEN

We present the findings and clinical course of a Caucasian woman (now age 23 1/2) who has been treated since early childhood for a previously undescribed syndrome of painful osteocartilaginous metaplasia of long bone metaphyses and painful distal phalangeal osteolysis and soft tissue swelling. Despite extensive evaluations and attempts at effective treatment, the cause and pathogenesis of her unique musculoskeletal disorder remain elusive.


Asunto(s)
Anomalías Múltiples/diagnóstico por imagen , Enfermedades Óseas/diagnóstico por imagen , Adulto , Enfermedades Óseas/fisiopatología , Femenino , Deformidades Congénitas del Pie/diagnóstico por imagen , Deformidades Congénitas de la Mano/diagnóstico por imagen , Humanos , Metaplasia , Osteocondrodisplasias/diagnóstico por imagen , Osteólisis , Radiografía , Síndrome
10.
Am J Med Genet ; 80(3): 241-6, 1998 Nov 16.
Artículo en Inglés | MEDLINE | ID: mdl-9843046

RESUMEN

Laryngotracheal stenosis is rare in adults, especially in the absence of a malignancy. It is most commonly caused by fibrosis following endotracheal intubation or tracheal trauma. Other conditions causing progressive airway narrowing include the mucopolysaccharidoses and autoimmune disorders. With the exception of storage diseases, there are no well-defined genetic disorders with progressive airway narrowing as a common complication. We have evaluated three unrelated individuals with this potentially life-threatening finding, all of whom have a previously unrecognized condition. Each patient had short stature and joint stiffness with no evidence for infectious, inflammatory, or metabolic diseases as a cause of their condition. None of our patients had clinical findings indicative of known skeletal dysplasias or storage diseases. They had minor facial anomalies which included deeply set eyes, bushy eyebrows, and flat midface. Given the unique findings of our patients including adult onset critical tracheal stenosis, short stature, progressive joint limitation, and distinct facial anomalies, we conclude that they have a previously undescribed condition.


Asunto(s)
Anomalías Múltiples , Artropatía Neurógena , Laringoestenosis , Estenosis Traqueal , Adulto , Estatura , Femenino , Humanos , Masculino
11.
Pediatr Radiol ; 27(5): 409-14, 1997 May.
Artículo en Inglés | MEDLINE | ID: mdl-9133352

RESUMEN

Sponastrime dysplasia is a dwarfing autosomal recessive bone dysplasia, the diagnosis of which is based on a combination of clinical and radiological features. The radiological features are more specific than the clinical ones. We have developed diagnostic radiological criteria based on information from our five cases and from six previously published ones.


Asunto(s)
Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Enfermedades del Desarrollo Óseo/genética , Niño , Preescolar , Enanismo/diagnóstico por imagen , Enanismo/genética , Facies , Femenino , Humanos , Lactante , Recién Nacido , Vértebras Lumbares/diagnóstico por imagen , Radiografía
12.
Am J Orthopsychiatry ; 67(2): 315-22, 1997 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-9142365

RESUMEN

Of 120 substance-abusing adolescents and young adults undergoing treatment, the majority reported engaging in several types of risky sexual behavior, both with and without concurrent substance use. Data analysis revealed that AIDS knowledge, decision-making style, drinking motives, and perceived vulnerability to HIV were significant predictors of such behavior. Findings are discussed with a view to enhancing prevention efforts among high-risk adolescents.


Asunto(s)
Síndrome de Inmunodeficiencia Adquirida/transmisión , Conducta Sexual , Trastornos Relacionados con Sustancias/psicología , Síndrome de Inmunodeficiencia Adquirida/prevención & control , Síndrome de Inmunodeficiencia Adquirida/psicología , Adolescente , Adulto , Alcoholismo/psicología , Alcoholismo/rehabilitación , Femenino , Conocimientos, Actitudes y Práctica en Salud , Humanos , Drogas Ilícitas , Masculino , Determinación de la Personalidad , Psicotrópicos , Tratamiento Domiciliario , Trastornos Relacionados con Sustancias/rehabilitación
13.
Sex Transm Dis ; 23(6): 511-6, 1996.
Artículo en Inglés | MEDLINE | ID: mdl-8946638

RESUMEN

BACKGROUND AND OBJECTIVES: To determine whether personal and/or a partner's use of crack cocaine is associated with the diagnosis of early syphilis or gonorrhea independent of high-risk sex behaviors, and to determine whether the relationships between crack cocaine and associated sexually transmitted diseases (STDs) are similar for adolescents and adults. STUDY DESIGN: A cross-sectional behavioral survey of hetero-sexual males and females attending public STD clinics in three cities. Logistic regression was used to identify risk behavior patterns associated with each STD compared with no STD. RESULTS: Multivariate analysis revealed that men who were high on drugs, including crack cocaine, before or during sex were more likely to be diagnosed with syphilis (Odds Ratio [OR] = 1.49; Confidence Intervals [CI] = 1.06, 2.13). Males more likely to be diagnosed with gonorrhea were younger (OR = 0.94; CI = 0.92, 0.96), had sex with a crack cocaine user (OR = 1.99; CI = 1.36, 2.91), did not use condoms last time they had sex with a nonmain partner (OR = 1.59; CI = 1.09, 2.13), and did not have sex with an intravenous drug user (OR = 0.45; CI = 0.22, 0.95). For women, there were no independent risk factor for syphilis but younger age was a risk factor for gonorrhea (OR = 0.95; CI = 0.91, 0.99). The associations between crack cocaine and syphilis and gonorrhea in men and between crack cocaine and syphilis in women were not significant among adolescents in this study. CONCLUSION: The results of this study highlight the differences in the crack cocaine-related behaviors of adults and adolescents at risk for gonorrhea and syphilis. The nature of these differences support the use of distinct intervention strategies for each STD and for adolescents and adults.


Asunto(s)
Cocaína Crack , Gonorrea/epidemiología , Trastornos Relacionados con Sustancias/complicaciones , Sífilis/epidemiología , Adolescente , Adulto , Factores de Edad , California/epidemiología , Estudios Transversales , Femenino , Florida/epidemiología , Gonorrea/prevención & control , Humanos , Incidencia , Masculino , Análisis Multivariante , Oportunidad Relativa , Philadelphia/epidemiología , Factores de Riesgo , Factores Sexuales , Sífilis/prevención & control
14.
Eur J Biochem ; 238(1): 259-69, 1996 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-8665945

RESUMEN

Digestion of calf intestine alkaline phosphatase with pronase and subsequent dephosphorylation of the released peptidyl-(Etn-P)2-glycosyl-PtdIns with HF generated 8 glycosyl-Ins species the largest of which (G1 and G2) have the following proposed structures: [sequence: see text] G3 and G5 are lower homologues of G1 and G2, respectively, being one alpha 1-2 linked mannopyranosyl residue shorter. G4 is analogous to G2 lacking the N-acetylgalactosaminyl residue and G6 is the next lower homologue of G4. Most of G4 and G6 occur substituted with a palmitoyl (G4, G6) or a myristoyl residue (G6) probably attached to the inositol moiety. Thus, the basic ManxGlc-Ins species are either substituted with an N-acetylgalactosaminyl residue or a fatty acid ester. The structures were deduced from compositional analysis, molecular-mass determination by matrix-assisted laser desorption MS, sequential hydrolysis with appropriate exoglycosidases and treatment with CrO3. Purification of the glycosylinositol species was achieved by a novel reverse-phase HPLC technique using fluorescent fluoren-9-yl-methoxy-carbonyl (Fmoc) derivatives. These stable derivatives were susceptible to hydrolysis with exoglycosidases which allowed sequential cleavages to be carried out and kinetics to be followed at the picomole level. We observed recently that native alkaline phosphatase separates on octyl-Sepharose into four distinct fractions of increasing hydrophobicity (F1-F4). Here we show that all four fractions contain G1-G6. The acylated species G4 and G6 were restricted to F2 and F4 which had been shown earlier to contain, on average, 2.5 and 3 fatty acid residues/subunit, respectively. In all four fractions the diradylglycerol moiety was predominantly diacylglycerol, alkylacylglycerol being less than 10% which is in contrast to most glycosyl-PtdIns--anchored proteins of mammalian origin.


Asunto(s)
Fosfatasa Alcalina/química , Glicoproteínas/química , Glicosilfosfatidilinositoles/química , Intestinos/enzimología , Acetilgalactosamina/química , Fosfatasa Alcalina/metabolismo , Animales , Secuencia de Carbohidratos , Bovinos , Fraccionamiento Químico , Diglicéridos/química , Ácidos Grasos/análisis , Fluorenos , Glicósido Hidrolasas/metabolismo , Glicosilfosfatidilinositoles/metabolismo , Hidrólisis , Inositol , Intestinos/química , Manosa/química , Datos de Secuencia Molecular , Relación Estructura-Actividad
15.
Am J Med Genet ; 63(1): 20-7, 1996 May 03.
Artículo en Inglés | MEDLINE | ID: mdl-8723082

RESUMEN

Sponastrime dysplasia (SD) is a dwarfing autosomal recessive short-limb bone dysplasia. The diagnosis is established by a combination of clinical and radiological findings of which the radiological are the more specific. The current diagnostic criteria are ambiguous as demonstrated by the fact that, in our opinion, three of the five patients reported since the original article do not have this condition. Comparison of our five patients and the 9 published patients has led to development of more specific diagnostic criteria. Previously undescribed complications of this condition are subglottic stenosis and tracheo-broncho-malacia, developmental coxa vara, and avascular necrosis of the capital femoral epiphyses.


Asunto(s)
Osteocondrodisplasias/diagnóstico , Adolescente , Desarrollo Óseo , Huesos/diagnóstico por imagen , Niño , Preescolar , Diagnóstico Diferencial , Enanismo/diagnóstico por imagen , Enanismo/genética , Femenino , Humanos , Lactante , Recién Nacido , Vértebras Lumbares/diagnóstico por imagen , Vértebras Lumbares/crecimiento & desarrollo , Masculino , Osteocondrodisplasias/diagnóstico por imagen , Osteocondrodisplasias/genética , Radiografía
16.
Am J Med Genet ; 63(1): 34-45, 1996 May 03.
Artículo en Inglés | MEDLINE | ID: mdl-8723084

RESUMEN

We describe severe neonatal Kniest dysplasia. Radiological findings in a severe case include short bowed tubular bones with exaggerated metaphyseal flare, moderate platyspondyly with vertical clefts of the vertebral bodies, and characteristically shaped iliac bones. Pathologic findings included a disorganized physeal growth plate, soft crumbly cartilage with a "Swiss-cheese" appearance, and diastase resistant intracytoplasmic inclusions in the resting chondrocytes. Transmission electronmicroscopy showed dilated cisternae of rough endoplasmic reticulum with finely granular material of accumulated protein. Scanning electronmicroscopy documented striking fragmentation and disintegration of collagen fibrils resulting in a web-like pattern and large open cyst-like spaces, and deficiency and disorganization of the collagen fibrils.


Asunto(s)
Cartílago/patología , Osteocondrodisplasias/diagnóstico por imagen , Osteocondrodisplasias/patología , Adulto , Cartílago/ultraestructura , Retículo Endoplásmico Rugoso/patología , Retículo Endoplásmico Rugoso/ultraestructura , Resultado Fatal , Femenino , Placa de Crecimiento/patología , Humanos , Lactante , Recién Nacido , Masculino , Microscopía Electrónica de Rastreo , Radiografía
19.
J Adolesc Res ; 10(3): 383-99, 1995 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-12290754

RESUMEN

PIP: The authors examined the degree to which adolescents believe they can resist a dating partner's verbal pressure to have sex when they themselves really do not want to. 2472 10th-grade students of mean age 15.5 years from eight public high schools in Dade County, Florida, participated in the study. 49% were male, 27.8% White, 38.2% Hispanic, and 27.7% Black. 50.1% reported having ever experienced sexual intercourse. The female students were found to be more likely than males to believe that they could refuse unwanted sex. No consistent differences were found along ethnic and racial lines. The multivariate analysis identified the following as predictors of the ability to refuse sex: a less-permissive attitude toward sex, the low importance of peer influence, and, for females, a generalized sense of self-efficacy.^ieng


Asunto(s)
Adolescente , Toma de Decisiones , Autoimagen , Conducta Sexual , Estudiantes , Factores de Edad , Américas , Conducta , Demografía , Países Desarrollados , Educación , Florida , América del Norte , Percepción , Población , Características de la Población , Psicología , Estados Unidos
20.
Am J Hum Genet ; 56(3): 698-704, 1995 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-7887425

RESUMEN

Multiple epiphyseal dysplasia (MED) comprises a group of hereditary chondrodysplasias in which there are major anatomic abnormalities of the long tubular bones. The Fairbank and Ribbing types are the most frequently cited types of MED. They are primarily defined radiographically and are autosomal dominant conditions. Recently, MED in one family was shown to map to the pericentromeric region of chromosome 19 and is probably allelic to pseudoachondroplasia. We have tested linkage with six short tandem repeat markers from chromosome 19 to autosomal dominant MED in one four-generation family and to MED in a unique family with three of seven siblings affected and with unaffected parents. Autosomal dominant MED in family 1 was linked with a maximum LOD score, at D19S212, of 3.22 at a recombination fraction (theta) of .00. Linkage to chromosome 19 was excluded with MED in the other family, under both autosomal recessive and autosomal dominant, with either reduced-penetrance or germ line-mosaicism models. Linkage to candidate genes COL9A1, COL9A2, and COL11A2 was tested and excluded for both genetic models in this family. COL11A1 was excluded under a recessive model. We have confirmed linkage of autosomal dominant Fairbank MED to chromosome 19 and have demonstrated that MED is genetically heterogeneous.


Asunto(s)
Heterogeneidad Genética , Osteocondrodisplasias/genética , Adulto , Niño , Preescolar , Cromosomas Humanos Par 19 , Femenino , Ligamiento Genético , Haplotipos , Humanos , Masculino , Linaje
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