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  • 11
    ISSN: 1432-1440
    Keywords: Familial hypercholesterolaemia ; Single-strand conformational polymorphism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The single-strand conformational polymorphism (SSCP) method was used to look for mutations in the 3’ half of exon 4 of the low-density lipoprotein receptor gene in patients with familial hypercholesterolaemia (FH). One set of conditions were found which allowed the detection of four of the mutations that have previously been reported in this part of the gene and detected in patients in the United Kingdom: the 3-bp deletion (del Gly197) the 2-bp deletion (STOP 216), the Asp206→Glu mutation and the Cys210→STOP. The method was used to screen 50 patients with definite or probable FH from London. Two were identified who were carriers of the 3-bp deletion of Gly197, one who was a carrier of the ASp206→Glu mutation and one who was a carrier of a novel mutation that alters Asp200→Gly. This mutation creates a cutting site for the restriction enzyme MspI. In a further sample of 200 patients from London with FH one additional apparently unrelated individual was detected who was a carrier of this defect. Thus in the sample of 50 patients, four (8%) had a mutation in this part of exon 4 that could be readily detected using the SSCP method, suggesting that this approach will be useful for rapid screening for mutations in patients with FH.
    Type of Medium: Electronic Resource
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  • 12
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric radiology 14 (1984), S. 44-46 
    ISSN: 1432-1998
    Keywords: Newborn ; Congenital anomalies ; Central nervous system ; Cerebral computerized tomography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a newborn with multiple congenital anomalies due to the Amniotic Band Disruption Complex. Cerebral computerized tomography and plain films of the extremities corroborated the clinical diagnosis. The purpose of this case report is to alert the radiologist to the varied radiographic appearance of this little known entity and to provide a historical and embryologic background.
    Type of Medium: Electronic Resource
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  • 13
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    Unknown
    Champaign, Ill. : Periodicals Archive Online (PAO)
    American Music. 3:1 (1985:Spring) 52 
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  • 14
    facet.materialart.
    Unknown
    Champaign, Ill. : Periodicals Archive Online (PAO)
    American Music. 6:1 (1988:Spring) 106 
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  • 15
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Journal of Stored Products Research 12 (1976), S. 273-275 
    ISSN: 0022-474X
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition
    Type of Medium: Electronic Resource
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  • 16
    Electronic Resource
    Electronic Resource
    Springer
    Skeletal radiology 29 (2000), S. 597-600 
    ISSN: 1432-2161
    Keywords: Keywords Parosteal osteosarcoma ; Telangiectatic osteosarcoma ; Dedifferentiation ; Femur ; Radiography ; MRI
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  A unique case of parosteal osteosarcoma (POS) of the proximal femur, with areas of telangiectatic dedifferentiation, in a 28-year-old woman is reported. The patient had a 7-week history of pain and swelling in her right thigh. A biopsy diagnosis of POS was established. The patient was treated with two cycles of intra-arterial chemotherapy, followed by limb salvage surgery. Histological examination of the resected specimen showed POS with areas of dedifferentiation composed of high-grade telangiectatic osteosarcoma with associated secondary aneurysmal bone cyst change.
    Type of Medium: Electronic Resource
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  • 17
    Electronic Resource
    Electronic Resource
    Springer
    Skeletal radiology 9 (1982), S. 17-26 
    ISSN: 1432-2161
    Keywords: Dislocation, elbow ; Dislocation, radial head ; Monteggia fracture-dislocation ; Nursemaid's elbow ; Proximal radioulnar joint ; Proximal radius ; Proximal ulna ; Skeletal development
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Thirty-six pairs of proximal radioulnar and elbow units from cadavers and prepared skeletons ranging in age from full-term neonates to fourteen years, were studied morphologically and roentgenographically. Air/cartilage interfacing was used to demonstrate the osseous and cartilaginous portions of the developing epiphyses. These roentgenographic aspects are discussed and illustrated to provide a reference index. The articular interrelationships and basic contours of the distal humerus, proximal ulna, and proximal radius are the same throughout postnatal development. The major changes are proportional volume increase and the progressive development of the secondary ossification centers. Because of overlap of the developing secondary ossification centers, roentgenographic interpretation may be difficult. Awareness of the developmental stages and variations should assist in the diagnosis of trauma to the immature elbow. During the first few years the proximal ulnar metaphysis is usually at the midpoint of the ulnohumeral joint in a lateral roentgenogram with the elbow flexed at 90°. With further growth and maturation this region of the metaphysis extends proximally. However, such extension is quite variable. The secondary ossification center, which will form most of the olecranon at skeletal maturity, initially forms adjacent to the dorsal side of the metaphysis. Multifocal ossification, while a relatively common clinical observation, was not seen in any of the specimens. The radial head is intra-articular, as is part of the neck (metaphysis). However, attachments of the capsule are such that none of the ulnar metaphysis is intra-articular. The proximal radius has the same contours and relative proportions of head and neck throughout postnatal development. The head is always larger than the neck. However, the contours of the sides of the radial head are of variable obliquity, allowing different degrees of excursion of the annular ligament during rotation (supination-pronation), a factor that anatomically predisposes young children to nursemaid's elbow. The secondary ossification center of the proximal radius initially appears as a linear focus centrally located adjacent to the metaphysis. This progressively expands, but not always symmetrically. The concavity of the articular cartilage may be reflected in a central identation of the ossification center, but this is not usually evident until ten to eleven years. The plane of the articular surface is not at a right angle relative to the longitudinal axis of the radius; instead, there is an increased angulation toward the bicipital tuberosity. This also is a factor predisposing to nursemaid's elbow in the young child.
    Type of Medium: Electronic Resource
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  • 18
    Electronic Resource
    Electronic Resource
    Springer
    World journal of surgery 16 (1992), S. 196-202 
    ISSN: 1432-2323
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé L'épaisseur du mélanome malin primitif n'est parfois pas un bon élément prédictif de l'évolution de la maladie. Des lésions dont l'épaisseur est 〈 à 0.8 mm peuvent récidiver ou donner des métastases. Au contraire, des lésions 〉 5.5 mm d'épaisseur n'ont pas toujours le taux de mortalité classique dans les délais habituellement décrits et il existe des cas où les récidives se développent plus de 10 ans après le traitement initial du mélanome. La banque de données de Sydney sur le mélanome, qui comprend plus de 9500 patients traités pendant 41 ans, est une situation unique pour étudier les caractéristiques et le pronostic des patients ayant un mélanome atypique. Chez le patient ayant une lésion mince stade I et sans signe d'extension, la présence d'ulcération, d'une activité mitotique élevée et/ou de signes d'envahissement de la couche réticulaire du derme sont des facteurs prédisposants à la récidive. Ceci contraste avec les lésions minces s'associant à des métastases lymphatiques (stade II). Dans ces cas, on est en présence de lésions modérément régressives avec absence de mitose et d'ulcération et aucune lésion ne dépassait le derme papillaire. Il n'existe aucun critère spécifique qui permette d'identifier les patients avec des lésions de stade I ou II dont l'épaisseur est 〉 5.5 mm mais avec un risque de récidive peu élevé ou chez lesquels une survie de plus de 10 ans est possible. Ces résultats indiquent qu'une conduite à tenir standardisée peut être inappropriée pour certains patients. Puisque les récidives sont essentiellement locorégionales et que la plupart des patients qui développent des métastases les détectent eux-mêmes, l'éducation du patient, l'apprentissage d'un examen attentif par le patient lui-même et l'indication de signes qui doivent l'amener à consulter sont les meilleurs éléments pour faciliter un diagnostic précoce de récidives sans imposer aux services de santé une tâche trop lourde.
    Abstract: Resumen En algunos casos aislados el espesor del melanoma primario falla en cuanto a la predicción de la evolución biológica de la enfermedad: lesiones 〈0.8 mm pueden hacer recurrencia local o metástasis, lesiones 〉5.5 mm pueden no ser fatales en el curso del esperado período de tiempo y recurrencia del melanoma puede aparecer 〉10 años después del tratamiento primario definitivo. La gran base de datos de la Unidad de Melanoma de Sydney de más de 9500 pacientes tratados en el curso de un período de 41 años provee una oportunidad única para estudiar las caracteristicas y el pronóstico de estos pacientes con melanomas inusuales. En pacientes con lesiones delgadas en estado I y libres de evidencia de enfermedad en otros lugares, la presencia de ulceración, elevada actividad mitósica y/o penetración de la dermis reticular, predispone a la recurrencia y la regresión no aparece como factor de riesgo de recurrencia, en fuerte contraste con la histología de las lesiones delgadas en pacientes con metástasis ganglionares regionales concurrentes (estado II): regresión moderada a severa fue observada en todas las lesiones de este último tipo, con ulceración y mitosis ausentes, y ninguna penetró más allá de la dermis papilar. No se hallaron criterios específicos que pudieran identificar aquellos pacientes en estados I o II con melanomas gruesos pero con bajo riesgo de recurrencia o aquellos con enfermedad localizada (estado I) que requirieron seguimiento prolongado por más de 10 años. Estos resultados indican que las directrices para el seguimiento de pacientes con melanoma después del tratamiento primario definitivo pueden no ser apropiadas para una pequeña proporción de los casos. Puesto que las recurrencias son principalmente loco-regionales y que la mayoría de los pacientes que desarrollan recurrencia detectan ellos mismos la recurrencia, la instrucción en el autoexamen y en el auto-referencia pueden ser los mejores aproches pragmáticos para facilitar el diagnóstico precoz de la recurrencia sin crear una carga excesiva sobre los servicios de salud.
    Notes: Abstract In rare instances, primary malignant melanoma thickness fails to predict the biologic course of the disease: lesions 〈0.8 mm thick may recur locally or metastasize, lesions 〉5.5 mm thick may not prove to be fatal within the expected interval of time, and melanoma recurrences may develop 〉10 years after first definitive melanoma treatment. The large Sydney Melanoma Unit data base of over 9,500 patients treated over a 41-year period provided a unique opportunity to study the characteristics and prognosis of these patients with unusual melanomas. In stage I patients with thin lesions, and no sign of disease elsewhere, presence of ulceration, high mitotic activity, and/or penetration into the reticular dermis predisposed these melanomas to recur and regression did not emerge as a risk factor for recurrence. This was in sharp contrast to the histology of the thin lesions in patients with concurrent regional lymph node metastases (stage II). Moderate to severe regression was present in all the latter lesions, ulceration and mitoses were absent, and none penetrated beyond the papillary dermis. No specific criteria were found that could identify those stage I or II patients with thick melanomas but at low risk for recurrence or those patients with localized disease (stage I) who required long-term follow-up beyond 10 years. These results indicate that guidelines for follow-up of melanoma patients after first definitive treatment may not be appropriate for a small proportion of patients. Since recurrences are mainly loco-regional and most patients who develop a recurrence detect the recurrence themselves, education of the patient in self-examination, and also self-referral may be the best pragmatic approaches to facilitate early diagnosis of recurrences without imposing too heavy a burden on health services.
    Type of Medium: Electronic Resource
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  • 19
    Electronic Resource
    Electronic Resource
    Springer
    Diabetologia 13 (1977), S. 93-97 
    ISSN: 1432-0428
    Keywords: Basal insulin secretion ; hypoglycaemia ; basal plasma glucose ; diabetes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The plasma insulin response to both a small increase and decrease in the plasma glucose has been studied in normal and diabetic, non-obese subjects. In a second investigation the plasma insulin concentrations were measured during a gradual reduction of the raised fasting plasma glucose of diabetes to normal levels. In both studies, diabetic patients were found to have a markedly impaired response of the fasting plasma insulin to small changes in plasma glucose. These results do not support the suggestion that stimulated and not basal insulin secretion is impaired in diabetes. Both modes of secretion are probably via the same B-cell release mechanism, which is deficient in diabetes. There was a gradation of response between maturity onset and juvenile onset diabetics.
    Type of Medium: Electronic Resource
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  • 20
    ISSN: 1432-0428
    Keywords: Cerebral blood flow ; hypoglycaemia ; blood viscosity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The effect of insulin-induced hypoglycaemia on cerebral blood flow was examined using the intravenous xenon-clearance technique in 9 patients with Type 1 (insulin-dependent) diabetes (aged 20 to 43 years) and 9 age-matched control subjects before, during and after hypoglycaemia. Cerebral blood flow rose in both groups. The mean basal cerebral flood flow values were not significantly different and during hypoglycaemia mean cerebral blood flow increased by 17% (p=0.008) in the diabetic patients and by 21% (p=0.0003) in the control subjects. The results suggest that in young diabetic patients without autonomic neuropathy or microangiopathy cerebral vessels dilate normally in response to hypoglycaemia. The physiological importance of an increase in cerebral blood flow during hypoglycaemia is uncertain; but glucose availability is increased.
    Type of Medium: Electronic Resource
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