Un cas de mosaïcisme avec grand chromosome surnuméraire

Sans résuméRecherches effectuées avec l'appui du Fonds de la Recherche Scientifique Médicale et du Fonds de la Recherche Fondamentale Collective (Belgique).     

Prostatectomie radicale rétropubienne avec préservation nerveuse. Technique et résultats à propos de 200 cas

Objectives

Nerve-sparing radical retropublic prostatectomy carries a risk of leaving positive posterolateral margins with controversial potency recovery rates. We analyses the potency recovery rate and the incidence of positive surgical margins observed with the nerve-sparing procedure in 200 cases.

Methods

Between 1990 and 2000, 605 patients underwent radical retropubic prostatectomy; 200 consecutive potent patients were selected for nerve-sparing: bilateral (87%), unilateral (13%). Mean age was 61.7, mean PSA was 10.48, clinical stage: T1 (41%) T2 (59%), Gleason score: 2 to 6 (81%) 7 to 8 (19%). Specimens were step-sectioned for histological examination, according to the Stanford protocol. Erectile function was evaluated before surgery and postoperatively every 3 months for 2 years. Only patients who achieved unassisted intercourse were considered to be potent.

Results

Positive surgical margins were found in 35 (17%) patients and identified at the nerve-sparing site in 8 (4%) patients. Overall, 157 patients were followed for two years and recovery of potency was observed in 70% of them. On multivariate analysis, the most significant factors affecting postoperative potency were preoperative erectile function and extent of nerve sparing, bilateral versus unilateral; age was not significant.

Conclusions

Nerve-sparing techniques in radical retropubic prostatectomy carry a very low incidence of positive posterolateral margins and yield favorable results in terms of potency recovery.     

Partial trisomy 13q21→qter de novo due to a recombinant chromosome rec(13)dup q

Summary A female is described who has a karyotype with an additional distal half of 13q in a recombinant rec(13)dup q chromosome. Since her parents have normal karyotypes, the origin of her karyotype is assumed to be a premeiotic pericentric inversion de novo with crossing-over within the inversion loop at meiosis. By means of various banding techniques, the breaks preceding the rearrangement could be located exactly. The joint between the duplicated segment and the satellites of the receptor chromosome is of special note. The phenotype of the patient stated at the age of 9 months and at the age of 71/2 years was found to be related to the segments involved in the partial trisomy. The clinical features were largely in accordance with previous case reports having an identical extent of the triplicated 13q segment.     

inv(13)(p12;q14)一家系报道

先证者,女,汉族,２４岁,身高１．６１米,体重６０．１公斤。因连续生两胎畸形儿夭折就诊。第一胎为足月顺产,唇裂、腭裂、双足各为６趾,５０天时因呼吸道感染而死亡。第二胎,足月顺产,体征似第一胎,生下两天死亡。对先证者进行外周血染色体检查,计数５０个细胞...     

A newborn child with karyotype 47,XX,+der(12) (12pter→12q12::8q24→8qter),t(8;12) (q24;q12) pat

Summary A case of Meckel or Gruber syndrome is reported, together with a survey of the relevant literature of recent years (1971–1977), in reference to a probably autosomal recessive inheritance of this malformation.     

An r(22)(p11→q13) in a moderately mentally retarded girl

Summary An r(22) was detected in a 6-year-old female patient with growth retardation, IQ of 45, and a lower quotient for verbal performance. She presents some other minor anomalies. The break and fusion points probably were at p11 and q13.     

罕见的45,XY,t(14q14q)、45,XX,t(13q13q)致习惯性流产两例报告

本实验室发现两例十分罕见的同源染色体之间的罗式易位病例,核型分别为45,XY,t(14q14q)、45,XX,t(13q13q)现报告如下。 病例报告 例1:男,28岁,汉族,其妻子30岁,孕早期自然流产4次(孕8周1次,孕7周3次),妇科检查未见异常,诊断为习惯性流产。外周血淋巴细胞染色体检查:共分析30个分裂相,每     

La paléoflore autuno-stéphanienne de la région de Demnate(Est de Marrakech-Maroc)

The paleoflora described and pictured in this paper has been collected in two deposits of the area of Demnate: the OT6 bis drilling in the oriental Haouz and an exposure in the Rhojdamas (High-Atlas). Two completely different associations have been characterized: one hygrophilous and autochtonous of the «Stephanian type and the other mesoxerophilous and allochtonous (vegetation of the upland?) of the «Autunian type. In the OT6 bis drilling, the two floras alternate so that it is impossible to draw a precise boundary between the Stephanian and Autunian. In the Rhojdamas, only the Autunian flora has been identified. Such a combination of the two floras has similarly been recorded in several stephanian basins of the French Massif Central.     

Faune rhizopodique du plateau de Kundulungu (Congo Belge) avec considérations concernant la répartition géographique des Rhizopodes

Hydrobiologia - De chaque espèce les dimensions des exemplaires mesurés sont données, exemplaire par exemplaire, de façon que non seulement les chercheurs peuvent suivre...     

A boy with 47,X,del(X)(p11→q13::q21→q24),del(Y)(q11)

Summary A patient is described carrying a duplication 4p12pter due to a paternal translocation: 46,XY,t(4;16) (p12;p13). Involvement of chromosome No. 16 and the heterogeneity of the clinical picture in cases with dup (4p) are discussed.Postdoctoral fellow of the Deutsche Forschungsgemeinschaft.     

Les gynécomasties à Dakar (à propos de 30 cas)

Gynecomastia has been rarely studied in Dakar. The objective of this study is to analyze the socio-demographic, clinical and etiologic aspects of gynecomastia in Dakar. A retrospective survey of our patients, from 1980 to 1996, reported age, ethnic and geographic origin, clinical aspects (site, duration, pain, galactorrhea, secondary sexual characteristics, associated signs) and etiologic aspects. Thirty cases of gynecomastia were observed, representing 0.93% of all patients attending the Department of Internal Medicine. These patients had a mean age of 22 years; 36% of patients consulted during adolescence, and one half patients consulted between the ages of 21 and 30 years; the majority of patients were Ouolofs. Most patients were suburban (26/30). Gynecomastia was recent (less than 1 year) in 30% of cases, had been present for 2 to 5 years in 43% of cases and had been present for 6 to 10 years in 20% of cases. One half of patients had bilateral gynecomastia with left-sided predominance (6/16). Unilateral cases were left-sided in 26% of cases and right-sided in 20% of cases. 45.8% of cases experienced pain. Galactorrhea was observed in 5 cases. The testicular atrophy observed in two cases had no impact on secondary sexual characteristics and sexual function. Obesity was observed in 4 patients: gynoid in 3 cases and mixed in 1 case. More than one half of all cases presented during puberty and 76.66% presented during adolescence. Testicular ultrasonography, performed in 7 patients, was normal; chest x-ray and sella turcica were also normal. Our study shows that gynecomastia of adolescence represents 76% of all cases and the high frequency of suburban population indicated a possible role of environmental adaptation.     

Un nouveau cas de façonnage dentaire intentionnel au Néolithique pour le dolmen A4 de la nécropole de Chenon (Charente,France)

We report the case of a new type of dental shaping practiced post-mortem on two lower canines belonging to an individual who had been deposited in the main corridor of the double megalithic monument called A4 passage-grave of the Neolithic Necropolis at Chenon (Charente, France). The main purpose of the present study based on ESEM microscopic observation of human teeth was to examine the trimming process used to shape these teeth. The ESEM observations were performed at different magnifications (30X, 100X, 200X, 500X) on the fractured lingual face, near the CEJ, near the pulp cavity and on the edge of the crown. The tooth shaping was done symmetrically on the two canines, from top to bottom of the lingual side, halfway up the crown, from the mesial face to the distal face, descending a little lower than the CEJ under the gum. A polishing of the exposed surface completed the proceeding. This type of teeth shaping has not been listed until now within the classifications of canine shaping. Known trimmed canines are either pyramid-shaped or L-shaped and observed from Neolithic period to Iron age in Spain.     

Les récepteurs hépatiques X définissent la réaction immunitaire pendant le syndrome général d’adaptation (SGA)

The impact of stressful conditions on immunity seems mixed and at times counterbalanced. Such inconsistencies can often be attributed to the fact that the notion of stress has a very wide meaning and covers a large number of different situations. Research on liver X receptors using both natural and synthetic ligands may help to solve this conflict. When an infectious agent is present in a stressed body, LXR activation is likely to be a key element in the regulation of POMC, IFN-γ, and IL-18; moreover, it is a unique anti-inflammatory mode of action. They concurrently stimulate a non-specific immune reaction as they suppress inflammatory and autoimmune processes.     

Autoradiographische Identifizierung der an zentrischen Fusionen beteiligten D-Chromosomen bei fünf nichtverwandten Familien: t(14qGq); t(14qGq); t(15qGq); t(13q14q); t(13q15q)

Zusammenfassung Wir berichten über autoradiographische Untersuchungen der D-Chromosomen bei 5 nichtverwandten Familien mit Fusionstranslokationen. Aus der Literatur sind bislang 54 ähnliche Fälle bekannt, die zumeist über klinisch auffällige Individuen entdeckt wurden. Innerhalb dieser Stichprobe ist die Häufigkeit, mit der bestimmte akrozentrische Chromosomen miteinander fusionieren, nicht zufällig. Als mögliche Ursachen werden einerseits die Auswahl der Stichprobe und andererseits einige cytogenetische Mechanismen diskutiert. Erst über auslesefreie cytogenetische Populationsuntersuchungen kann entschieden werden, inwieweit die in der Stichprobe beobachteten Häufigkeiten mit denen in der Durch-schnittsbevölkerung übereinstimmen.

---

Autoradiographic identification of D-group chromosomes involved in robertsonian translocation. A study of five unrelated families: t(14qG1); t(14qGq); t(t5qGq); t(13q14q); t(13q15q)

Summary DNA replication studies were carried out on the D-group chromosomes involved in the centric-fusion type chromosomal disorder in members of 5 non-related families. Ascertainement of similiar cases thus far has, almost exclusively, been achieved by investigation of non-balanced carriers. Within a total of 54 patients reported in the literature autoradiography revealed D-acrocentrics to be non-randomly involved. This might be due to ascertainement bias or to endogenous chromosomal mechanisms, as is discussed. It is considered impossible, however, to provide further evidence for the presumed excess of some types of translocation unless selection-free samples have been investigated.

---

---

Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

Un nouveau genre de Sélacien (Batomorphii,Myliobatiformes)de l'Yprésien des Ouled Abdoun,Maroc

Ouledia sigei nov. gen. nov. sp. from the Upper Ypresian of Morocco is described. Despite its very specialized and derived dental morphology, this genus can be tentatively referred to the Gymnuridae. To date, Ouledia sigei nov. gen. nov. sp. is confined to the Upper Ypresian of Ouled Abdoun basin.