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1.
Am J Med Genet ; 100(1): 66-80, 2001 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-11337752

RESUMEN

"The Chimaera" in Homer's Iliad, "was of divine stock, not of men, in the forepart a lion, in the hinder a serpent, and in the midst a goat, ellipsis Bellerophon slew her, trusting in the signs of the gods." In Hesiod's Theogony it is emphasized that "Chimaera ellipsis had three heads, one of a grim-eyed lion, another of a goat, and another of a snakeellipsis". In addition to this interspecies animal chimera, human/animal chimeras are referred to in Greek mythology, preeminent among them the Centaurs and the Minotaur. The Centaurs, as horse/men, first appear in Geometric and early Archaic art, but in the literature not until early in the fifth century B.C. The bullheaded-man Minotaur, who is not certainly attested in the literary evidence until circa 500 B.C., first appears in art about 650 B.C. Attempts, in the fourth century B.C. and thereafter, to rationalize their mythical appearance were in vain; their chimeric nature retained its fascinating and archetypal form over the centuries. Early in the 1980s, experimental sheep/goat chimeras were produced removing the reproductive barrier between these two animal species. Late in the 1990s, legal, political, ethical, and moral fights loomed over a patent bid on human/animal chimeras. Chimeric technology is recently developed; however, the concept of chimerism has existed in literary and artistic form in ancient mythology. This is yet another example where art and literature precede scientific research and development.


Asunto(s)
Quimera , Animales , Ética , Humanos , Mitología , Ciencia/legislación & jurisprudencia , Ciencia/tendencias
2.
Artículo en Inglés | MEDLINE | ID: mdl-10884637

RESUMEN

Epidermal nevus syndrome (ENS) is a hamartoneoplastic syndrome characterized by the association of epidermal nevi with abnormalities in other organ systems. We report a 32-year-old woman with ENS that, in addition to cutaneous manifestations, showed red plaques on the maxillary and mandibular labial alveolar mucosa and a papillomatous lesion of the midline posterior hard palate. Radiographic examination of the jaws was noncontributory. Approximately 5 years later, a follicular ameloblastoma developed in the mandible. The tumor showed duct-like cystic spaces, continuity with the overlying epithelium, and globular myxomatous areas in the connective tissue. The palatal lesion was diagnosed as papilloma, whereas the maxillary plaques showed nonspecific mucositis. The association of ameloblastoma with ENS is discussed. This is the second case of ENS associated with ameloblastoma reported in the medical literature.


Asunto(s)
Ameloblastoma/etiología , Neoplasias Mandibulares/etiología , Síndromes Neurocutáneos/complicaciones , Nevo/complicaciones , Neoplasias Cutáneas/complicaciones , Adulto , Femenino , Humanos , Neoplasias Mandibulares/patología , Neoplasias Palatinas/etiología , Neoplasias Palatinas/patología , Papiloma/etiología , Papiloma/patología
3.
Genet Couns ; 10(3): 245-50, 1999.
Artículo en Inglés | MEDLINE | ID: mdl-10546095

RESUMEN

A caucasian boy with distinct oriental-like facies, short stature, brachydactyly, congenital ventricular septal defect, glaucoma, and speech disorder is reported. Routine laboratory tests, karyotype, and hormonal profile (IGF 1, growth hormone during provocative testing, thyroid hormones, prolactin, gonadotrophins) were normal. Radiologic skeletal survey did not disclose any abnormality. Both parents were apparently normal, but short in stature.


Asunto(s)
Anomalías Múltiples/genética , Cara/anomalías , Dedos/anomalías , Glaucoma/genética , Trastornos del Crecimiento/genética , Defectos del Tabique Interventricular/genética , Trastornos del Habla/genética , Anomalías Dentarias/genética , Población Blanca/genética , Estatura , Niño , Humanos , Masculino , Síndrome
4.
Oral Dis ; 5(1): 20-6, 1999 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-10218037

RESUMEN

OBJECTIVE: This study examines the intensity of expression of beta 1, alpha 2, alpha 3, alpha 5, alpha 6 integrin subunits in oral squamous cell carcinoma (SCC) as opposed to normal oral epithelium, and the intensity of expression and distribution pattern of the above subunits in relation to tumour differentiation grade. MATERIALS AND METHODS: Cryostat sections of 25 cases of oral SCC and 15 cases of normal oral epithelium were studied by immunohistochemistry (APAAP method). RESULTS: The intensity of expression of beta 1, alpha 2 (Pearson chi 2 P < 0.001) and alpha 6 (Test for Trend P < 0.05) integrin subunits was reduced significantly in SCC compared to normal oral epithelium. All integrin subunits were mainly expressed in the peripheral cell layer of tumour islands. No correlation was found between the intensity of integrin expression and the degree of differentiation in SCC. The same applied to the distribution pattern of the integrin subunits. By means of cross examination of all integrins, the loss of intensity of alpha 2 beta 1 integrin expression was found to have the strongest correlation with oral SCC (Ordered Logistic Regression). CONCLUSIONS: Reduced intensity of expression of all subunits was found in oral SCC compared to normal epithelium. Further investigation is needed to determine whether alpha 2 beta 1 integrin expression can be used as a prognostic evaluator for the behaviour of the disease.


Asunto(s)
Carcinoma de Células Escamosas/metabolismo , Integrinas/metabolismo , Mucosa Bucal/metabolismo , Neoplasias de la Boca/metabolismo , Carcinoma de Células Escamosas/inmunología , Estudios de Casos y Controles , Moléculas de Adhesión Celular/metabolismo , Diferenciación Celular , Distribución de Chi-Cuadrado , Epitelio/inmunología , Epitelio/metabolismo , Humanos , Integrina beta1/metabolismo , Modelos Logísticos , Mucosa Bucal/inmunología , Neoplasias de la Boca/inmunología , Análisis Multivariante
5.
J Oral Pathol Med ; 27(5): 233-7, 1998 May.
Artículo en Inglés | MEDLINE | ID: mdl-9682988

RESUMEN

Hyalinosis cutis et mucosae (lipoid proteinosis, Urbach-Wiethe disease) is a rare syndrome with autosomal recessive inheritance. The disease is characterized by diffuse deposition of a hyaline-like substance in the dermis, the submucosal connective tissue and various internal organs. The oral mucosa of affected people becomes nodular and thickened, with primary involvement of the labial, buccal and palatal mucosa, posterior tongue, and lingual frenulum. We report the case of a 66-year-old man with hyalinosis cutis et mucosae who presented with gingival hyperplasia due to diffuse deposition of hyaline-like material, and discuss the diagnostic significance of the microscopic findings of the gingival tissues. The present clinical features are also compared to those of the same patient at the age of 38 years.


Asunto(s)
Hiperplasia Gingival/patología , Hialina , Proteinosis Lipoidea de Urbach y Wiethe/patología , Enfermedades de la Piel/patología , Adulto , Anciano , Tejido Conectivo/patología , Estudios de Seguimiento , Genes Recesivos , Hiperplasia Gingival/genética , Humanos , Frenillo Lingual/patología , Enfermedades de los Labios/patología , Proteinosis Lipoidea de Urbach y Wiethe/genética , Masculino , Enfermedades de la Boca/patología , Membrana Mucosa/patología , Enfermedades de la Piel/genética , Enfermedades de la Lengua/patología
6.
Am J Med Genet ; 72(2): 144-55, 1997 Oct 17.
Artículo en Inglés | MEDLINE | ID: mdl-9382134

RESUMEN

Hephaestus (or Hephaistos) is an Olympian Greek god, the divine smith, famed for inventions, who taught men glorious crafts. The fixed epithet for Hephaestus, used from the eighth century B.C. by Homer, Hesiod, and other ancient authors until the fifth century A.D., is "Amphiguéeis," i.e., with both feet crooked. He is also called "Kullopodíou," i.e., clubfooted. His body and his gait were described by Homer: "He spake, and from the anvil rose, a huge, panting bulk, halting the while, but beneath him his slender legs moved nimbly ... and with a sponge wiped his face and his two hands withal, and his mighty neck and shaggy breast, ... and grasped a stout staff, and went forth halting; but there moved swiftly to support their lord handmaidens wrought of gold in the semblance of living maids." His anomaly was congenital, as we learn from Hephaestus himself ("I was born misshapen") and from his mother Hera ("But my son Hephaestus whom I bare was weakly among all the blessed gods and shrivelled of foot."). Vase paintings of the sixth century B.C. depict Hephaestus' lameness, but his lameness is not emphasized in the fifth century and thereafter. It is most likely that bilateral congenital clubfeet made Hephaestus lame. Two sons of Hephaestus, Palaemonius and Periphetes, were also reported as having deformed feet.


Asunto(s)
Pie Equinovaro/historia , Medicina en la Literatura , Medicina en las Artes , Pie Equinovaro/genética , Antigua Grecia , Historia Antigua , Mitología
7.
Am J Med Genet ; 62(2): 125-44, 1996 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-8882393

RESUMEN

Hesiod's Theogony, a completely preserved poem, is dated from about 700 B.C. It depicts partly a development, partly a situation that has arisen in the course of time in the world. It constitutes an attempt to understand the cosmos as the product of a genealogical evolution, which can be seen as a process of successive separation, differentiation, and hierarchization. In this attempted picture of the world myth and reality are inextricably interwoven. Observations of natural phenomena as far as of congenital malformations are accordingly exaggerated and undergone mythical transformation. Entities enumerated in this genealogical poem, no matter whether they stand for parts and concrete phenomena of the physical world or intellectual properties and abstract concepts, behave, think, and act, and are accordingly though of, in anthropomorphic terms. Monogamy, polygamy, endogamy, exogamy, asexual and sexual reproduction, multiple conceptions and births, dominantly and recessively inherited traits, normal and abnormal offspring, and perceptions and notions on cosmogony, isogamy, and teratogenesis could be observed in the writing of the Theogony and interpreted by rational modern concepts.


Asunto(s)
Genética , Medicina en la Literatura , Mitología , Poesía como Asunto , Mundo Griego , Historia Antigua , Humanos
8.
Psychother Psychosom ; 65(3): 163-8, 1996.
Artículo en Inglés | MEDLINE | ID: mdl-8784949

RESUMEN

BACKGROUND: Glossodynia or burning mouth syndrome has been suggested to be a multifunctional disorder. Etiologic factors that have been reported include hematologic or vitamin deficiencies, denture factors, the climacteric, infections or endocrinological disorders. On the other hand psychological factors, such as anxiety, depression and phobias have been reported to play a significant role at the beginning of this nosological entity. It seems therefore that there are two main categories of glossodynia, one with a detectable organic etiology and another with a psychologic origin. The purpose of this study was to provide further information concerning the personality characteristics and the incidence of psychopathology in patients suffering from glossodynia without an organic etiology. METHODS: Twenty-five patients suffering from glossodynia and 25 control subjects, matched for sex and age, participated in the study. Patients and controls were assessed concerning their psychosomatic morbidity. Both groups were given psychometric instruments (SRSD, STAI, EPQ, HDHQ, SSPS) for the assessment of personality characteristics and psychopathological symptoms. RESULTS: Patients were significantly differentiated from controls with respect to all factors of HDHQ; they exhibited more hostility, either introverted or extroverted, than control subjects. The patients also had significantly higher values in the N (neuroticism) and the L (lie) factors of the EPQ. Concerning the other psychometric measurements there were no significant differences. Patients also had significantly higher rates of psychosomatic morbidity than controls. CONCLUSIONS: Our findings indicate that hostility-especially introverted hostility-neuroticism and possibly depression are important components of the psychological profile of patients suffering from glossodynia.


Asunto(s)
Glosalgia/psicología , Personalidad/fisiología , Trastornos Somatomorfos/psicología , Adulto , Anciano , Estudios de Casos y Controles , Distribución de Chi-Cuadrado , Decepción , Emoción Expresada/fisiología , Femenino , Glosalgia/etiología , Hostilidad , Humanos , Masculino , Trastornos Mentales/complicaciones , Persona de Mediana Edad , Pruebas Psicológicas , Trastornos Somatomorfos/complicaciones
9.
Genet Couns ; 6(3): 227-32, 1995.
Artículo en Inglés | MEDLINE | ID: mdl-8588851

RESUMEN

A boy and his mother with bilateral congenital blepharoptosis, downslanting palpebral fissures, hypertelorism, microcephaly, short nose with flattened nasal root, microstomia, prominent lateral palatine ridges, bifid (boy) hypoplastic (mother) uvula, generalized dental caries, short neck, peculiar voice and mild conductive deafness are reported. The boy had subvalvular aortic stenosis. The mother had pectus excavatum but not any signs or symptoms of cardiovascular defect.


Asunto(s)
Anomalías Múltiples/genética , Estenosis Aórtica Subvalvular/genética , Blefaroptosis/genética , Adulto , Niño , Femenino , Tórax en Embudo/genética , Pérdida Auditiva Conductiva/genética , Humanos , Masculino , Fenotipo , Anomalías Dentarias/genética
10.
Genet Couns ; 5(3): 257-67, 1994.
Artículo en Inglés | MEDLINE | ID: mdl-7811426

RESUMEN

A patient with an unusual combination of findings, which do not fit in any of the known syndromes, is presented. The patient, a 24.5-year-old male of normal growth and intelligence, manifests craniofacial dysmorphism, radiolucencies in the skull and in the cervical vertebrae, progressive alveolar bone loss and fusion of cervical vertebrae. The young man does not exhibit any other systemic, hematological, biochemical, chromosomal or immunological abnormality, except for IgA deficiency.


Asunto(s)
Enfermedades del Desarrollo Óseo/genética , Vértebras Cervicales/anomalías , Disostosis Craneofacial/genética , Huesos Faciales/anomalías , Periodoncio/anomalías , Adulto , Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Huesos/diagnóstico por imagen , Cefalometría , Vértebras Cervicales/diagnóstico por imagen , Disostosis Craneofacial/diagnóstico por imagen , Huesos Faciales/diagnóstico por imagen , Humanos , Deficiencia de IgA/genética , Masculino , Periodoncio/diagnóstico por imagen , Fenotipo , Radiografía , Síndrome
11.
Oral Surg Oral Med Oral Pathol ; 74(1): 93-5, 1992 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-1508516

RESUMEN

A case of unusual dental findings associated with mild growth and mental retardation is presented. The patient, a 15-year-old girl, manifests small teeth with peculiar short bulbous roots and roundly widened root canals, congenital absence of permanent teeth, strabismus, short stature, and borderline mentality.


Asunto(s)
Estrabismo , Anomalías Dentarias , Raíz del Diente/anomalías , Adolescente , Anodoncia , Cavidad Pulpar/anomalías , Femenino , Trastornos del Crecimiento , Humanos , Discapacidad Intelectual , Síndrome
12.
Hum Genet ; 88(5): 500-7, 1992 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-1551655

RESUMEN

A review of the concepts of genetics found in epic, historical and dramatic ancient Greek writings from the eighth to the fourth centuries B.C., is presented. The derived data suggest that the development of genetical concepts and ideas started with the praise of the heroes' divine or noble origin in Homer's epic poems (eighth century B.C.). It continued in the tracing of the descent and vicissitudes of the families of the Greek gods and the common ancestry of the Greek tribes as described in Hesiod's genealogical poems (around 700 B.C.), in the statement of descent and dual parenthood of leaders and kings in the books of Herodotus and Xenophon (fifth and fourth centuries B.C.), and in the concern about the lineage of the tragic figures in Greek drama (fifth century B.C.). The genetical concepts expressed in these writings most probably reflected popular notions of that time. They must, therefore, have been the basis of the perceptions and theories on heredity and procreation expressed by the ancient physicians and philosophers in the fifth and fourth centuries B.C., which in turn influenced the development of genetics for many centuries.


Asunto(s)
Genética Médica/historia , Literatura/historia , Niño , Femenino , Antigua Grecia , Historia Antigua , Humanos , Masculino , Linaje
13.
J Clin Pediatr Dent ; 17(1): 37-40, 1992.
Artículo en Inglés | MEDLINE | ID: mdl-1290759

RESUMEN

A case with Prader-Willi syndrome (P.W.S.) is reported. The patient manifests: obesity, hypogonadism, hypotonia, mental retardation, small hands and feet, prominent forehead, bitemporal narrowing, strabismus, hypoplastic teeth, generalized caries and thick, sticky saliva. The patient is presented at two different ages (10 and 14), and the development of the characteristics of the syndrome is described. Emphasis is given to the oral findings especially to the generalized caries, that led to an almost complete destruction of the teeth. The role of the dentist is considered to be important for the control of the dental problem of this syndrome.


Asunto(s)
Caries Dental/etiología , Síndrome de Prader-Willi/complicaciones , Niño , Hipoplasia del Esmalte Dental/complicaciones , Humanos , Masculino , Linaje
14.
J Oral Pathol Med ; 19(8): 385-7, 1990 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-2250229

RESUMEN

A case of Laband syndrome in an 8-yr-old girl is presented. The case is sporadic. The patient manifests enlargement of the soft tissue of the hard palate and the gingiva, which partly or completely covers the crowns of the teeth and macroglossia. The cartilagenous part of the nose and the ears is large and soft. She has synophrys and thick, straight hair. The nails of the fingers and toes are dysplastic. The girl exhibits no other abnormality, except an IQ of 61.


Asunto(s)
Anomalías Múltiples , Fibromatosis Gingival , Macroglosia , Niño , Femenino , Humanos , Discapacidad Intelectual , Uñas Malformadas , Nariz/anomalías , Síndrome
15.
Odontostomatol Proodos ; 42(5): 363-9, 1988 Oct.
Artículo en Griego moderno | MEDLINE | ID: mdl-3152608

RESUMEN

The purpose of this study was to investigate and to determine the mode of inheritance in commissural lip pits. Fifteen probands and their family members were clinically examined. Afterwards, the pedigrees of the fifteen families were constructed. The study of these pedigrees showed that: 1) The condition usually appeared in several members and in several generations of the same family. 2) Both sexes were affected almost equally. 3) The affected persons were vertically directed in the pedigrees. 4) The condition was transmitted from fathers and mothers to their daughters or sons or both in thirteen pedigrees. Especially, transmission from fathers to sons, was observed in four pedigrees. These findings suggest that commissural lip pits are a genetic disorder exhibiting autosomal dominant inheritance. 5) Gaps in generation were observed in two pedigrees interpreted as reduced penetrance of the responsible gene. The clinical examinations showed that the depth of the pits some times varied among the affected members of the same family interpreted as variable expressivity of the trait.


Asunto(s)
Enfermedades de los Labios/genética , Labio/anomalías , Femenino , Humanos , Masculino , Linaje
18.
J Oral Pathol ; 15(3): 151-4, 1986 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-3084739

RESUMEN

Chromosomal breakage and sister-chromatid exchanges (SCE) were studied in peripheral lymphocytes of 9 patients with primary herpetic stomatitis (PHS), 12 patients with secondary herpetic stomatitis (SHS) and 12 controls. The incidence of chromosomal breakage was significantly higher in PHS patients (mean 23%, P. = 0.0002) and in SHS patients (mean 20.25%, P. = 0.0003) compared to the controls (mean 4.2%). The incidence of SCE per 46 chromosomes was significantly higher in SHS patients (mean 16.564) compared with (P. less than 0.001) the controls (mean 11.367) and compared with (P. = 0.006) the PHS patients (mean 12.131). It is concluded that both PHS and SHS patients exhibit structural chromosomal damage; SHS patients in addition exhibit more repaired chromosomal lesions.


Asunto(s)
Fragilidad Cromosómica , Intercambio de Cromátides Hermanas , Estomatitis Herpética/genética , Adolescente , Adulto , Niño , Preescolar , Aberraciones Cromosómicas , Femenino , Herpes Labial/genética , Herpes Labial/patología , Humanos , Linfocitos/ultraestructura , Masculino , Estomatitis Herpética/patología
19.
Cancer Genet Cytogenet ; 20(1-2): 35-8, 1986 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-3943060

RESUMEN

Sister chromatid exchanges (SCEs) were studied in cultured peripheral lymphocytes of 22 untreated patients with squamous cell carcinoma of the oral cavity and 29 age- and sex-matched controls. The SCE rate in cancer patients was not significantly higher compared with that found in controls, but there was a significant correlation between the SCE rate in lymphocytes of the cancer patients and the size of the primary tumor.


Asunto(s)
Linfocitos/ultraestructura , Neoplasias de la Boca/genética , Intercambio de Cromátides Hermanas , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias
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