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31.
Conclusion The opening of the anal canal appears to be the factor which initiated the differentiation of the sphincter apparatus.The internal sphincter m. of the anus is entirely composed of smooth muscle as distinct from the striated fibers of the m. puborectalis, and the external sphincter which is a mixture of smooth and striated fibers (of skeletal type). It develops in the terminal part of the internal circular layer of the rectal m., outside which are longitudinal fibers which descend early to form the external sphincter (beginning around the third month).This study shows that the internal sphincter is scarcely evident before 12 SA. Thus continence between 10 and 12 SA (after the closure of the anal membrane) is closely related to the other components of the sphincter apparatus. On the other hand, the internal sphincter has become well formed after 28 to 30 SA and then plays a direct role in maintaining continence. 相似文献
32.
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation 总被引:22,自引:1,他引:22
Marsh DJ; Coulon V; Lunetta KL; Rocca-Serra P; Dahia PL; Zheng Z; Liaw D; Caron S; Duboue B; Lin AY; Richardson AL; Bonnetblanc JM; Bressieux JM; Cabarrot-Moreau A; Chompret A; Demange L; Eeles RA; Yahanda AM; Fearon ER; Fricker JP; Gorlin RJ; Hodgson SV; Huson S; Lacombe D; Eng C 《Human molecular genetics》1998,7(3):507-515
The tumour suppressor gene PTEN , which maps to 10q23.3 and encodes a 403
amino acid dual specificity phosphatase (protein tyrosine phosphatase;
PTPase), was shown recently to play a broad role in human malignancy.
Somatic PTEN deletions and mutations were observed in sporadic breast,
brain, prostate and kidney cancer cell lines and in several primary tumours
such as endometrial carcinomas, malignant melanoma and thyroid tumours. In
addition, PTEN was identified as the susceptibility gene for two hamartoma
syndromes: Cowden disease (CD; MIM 158350) and Bannayan-Zonana (BZS) or
Ruvalcaba-Riley-Smith syndrome (MIM 153480). Constitutive DNA from 37 CD
families and seven BZS families was screened for germline PTEN mutations.
PTEN mutations were identified in 30 of 37 (81%) CD families, including
missense and nonsense point mutations, deletions, insertions, a
deletion/insertion and splice site mutations. These mutations were
scattered over the entire length of PTEN , with the exception of the first,
fourth and last exons. A 'hot spot' for PTEN mutation in CD was identified
in exon 5 that contains the PTPase core motif, with 13 of 30 (43%) CD
mutations identified in this exon. Seven of 30 (23%) were within the core
motif, the majority (five of seven) of which were missense mutations,
possibly pointing to the functional significance of this region. Germline
PTEN mutations were identified in four of seven (57%) BZS families studied.
Interestingly, none of these mutations was observed in the PTPase core
motif. It is also worthy of note that a single nonsense point mutation,
R233X, was observed in the germline DNA from two unrelated CD families and
one BZS family. Genotype-phenotype studies were not performed on this small
group of BZS families. However, genotype-phenotype analysis inthe group of
CD families revealed two possible associations worthy of follow-up in
independent analyses. The first was an association noted in the group of CD
families with breast disease. A correlation was observed between the
presence/absence of a PTEN mutation and the type of breast involvement
(unaffected versus benign versus malignant). Specifically and more
directly, an association was also observed between the presence of a PTEN
mutation and malignant breast disease. Secondly, there appeared to be an
interdependent association between mutations upstream and within the PTPase
core motif, the core motif containing the majority of missense mutations,
and the involvement of all major organ systems (central nervous system,
thyroid, breast, skin and gastrointestinal tract). However, these
observations would need to be confirmed by studying a larger number of CD
families.
相似文献
33.
Gonadotrophin-releasing hormone agonist dose-dependency of pituitary desensitization during controlled ovarian hyperstimulation in IVF 总被引:2,自引:2,他引:2
Janssens RM; Vermeiden JP; Lambalk CB; Schats R; Schoemaker J 《Human reproduction (Oxford, England)》1998,13(9):2386-2391
The aim of this study was to find the minimal effective daily s.c. dose of
the gonadotrophin-releasing hormone (GnRH) agonist, triptorelin acetate,
that suppresses the GnRH-induced release of luteinizing hormone (LH) at
time of human chorionic gonadotrophin (HCG) injection and thereby prevents
spontaneous LH surges during in-vitro fertilization (IVF) stimulation
cycles. Therefore, a double-blind, prospective and randomized titration
study was performed. A total of 48 IVF patients were divided into four
groups of 12 patients. Each group received a different dose of triptorelin
acetate, namely 5, 15, 50 or 100 microg s.c. daily. Standard ovarian
stimulation was carried out using urinary follicle stimulating hormone
(FSH) preparations. A 500 microg GnRH test was performed 90 min before the
HCG injection in order to measure the degree of pituitary desensitization.
Spontaneous LH surges were not detected in any of the groups, although
three patients in the 5 microg group had ovulated at the time of ovum
retrieval. The pituitary LH response to the GnRH test at time of HCG,
expressed as area under the curve (AUC), appeared to be dose-dependent.
Thus, a daily s.c. dose of 100 microg triptorelin acetate appears to be too
high, since adequate desensitization of the pituitary (i.e. no spontaneous
LH surge) can be achieved with doses as low as 15 and 50 microg.
相似文献
34.
Bals-Pratsch M; De Geyter C; Muller T; Frieling U; Lerchl A; Pirke KM; Hanker JP; Becker-Carus C; Nieschlag E 《Human reproduction (Oxford, England)》1997,12(5):896-904
Preliminary data have suggested that female infertility due to corpus
luteum insufficiency may be caused by subclinical hypothyroidism
[exaggerated thyroid-stimulating hormone (TSH) response to thyrotrophin-
releasing hormone (TRH) stimulation]. L-Thyroxine supplementation has been
recommended to achieve pregnancies in subclinical hypothyroid women. This
controlled study was carried out in order to investigate the biochemical
diagnosis of subclinical hypothyroidism as a possible infertility factor.
Five infertile patients (aged 25-36 years) with subclinical hypothyroidism
(n = 4, stimulated TSH >20 microU/ml) or primary hypothyroidism (n = 1)
and five healthy controls (aged 22-39 years) with normal thyroid function
(stimulated TSH <15 microU/ml), regular cycles and no history of
infertility were studied in the early follicular phase. In the pre-study
evaluation, eight of 23 volunteers (34.8%) had to be excluded because of
subclinical hypothyroidism with stimulated TSH values (TSHs) >15
microU/ml. Cycle function of patients and controls was compared by the
method of LH pulse pattern analysis. Therefore blood samples were drawn
every 10 min during a 24 h period. Sleep was recorded from midnight to 7
a.m. Repetition of the TRH tests at the end of the 24 h blood sampling
period confirmed the difference in stimulated TSH values of the two study
groups. Pulse analysis for luteinizing hormone (LH), TSH and prolactin
showed no differences between patients and controls for pulse frequency,
amplitude, height, length, area under curve (AUC) and the 24 h mean. Even
the hypothyroid patient had a normal LH pulse pattern. Additional
measurement of melatonin in pooled sera every 30 min gave the
well-documented diurnal profiles during day and night for both groups.
Patients had significantly higher melatonin values at seven time points
during the night. Peaks for LH, TSH, prolactin and cortisol were correlated
with the sleep stages wake, rapid eye movement, 1 + 2 and 3 + 4. We
concluded that corpus luteum insufficiency in female infertility cannot be
explained by subclinical hypothyroidism and thus should not be treated with
L-thyroxine for fertility reasons.
相似文献
35.
Queenan JT Jr; Veeck LL; Toner JP; Oehninger S; Muasher SJ 《Human reproduction (Oxford, England)》1997,12(7):1573-1576
In-vitro fertilization patients (n = 15) at risk of ovarian
hyperstimulation syndrome (OHSS) (oestradiol > or =4500 pg/ml on the day
of human chorionic gonadotrophin administration and 25 or more follicles of
intermediate or large size) underwent aspiration of all follicles and
cryopreservation of all fertilized oocytes at the pronuclear stage.
Patients were monitored for up to 2 weeks post- retrieval. Subsequent
transfer of cryopreserved-thawed embryos was performed in programmed cycles
using exogenous oestrogen and progesterone for endometrial preparation. Two
patients (13%) developed OHSS necessitating hospitalization and vaginal
aspiration of ascitic fluid. Two other patients (13%) developed moderate
OHSS requiring ascitic fluid vaginal aspiration in the office setting, with
dramatic improvement of the condition. Subsequent transfer of
cryopreserved- thawed embryos yielded a clinical pregnancy rate of 58% per
transfer and ongoing or delivery rates of 42 and 67% per transfer and per
patient respectively. By eliminating pregnancy potential with
cryopreservation of all prezygotes and examining the pregnancy potential
with subsequent cryopreserved-thawed transfers, it is concluded that OHSS
is reduced, but not eliminated for patients at risk. Subsequent transfer of
cryopreserved-thawed prezygotes in a programmed cycle with exogenous
steroids yields an excellent pregnancy rate.
相似文献
36.
Mercan R; Mayer JF; Walker D; Jones S; Oehninger S; Toner JP; Muasher SJ 《Human reproduction (Oxford, England)》1997,12(9):1886-1889
The aim of this study was to compare the efficacy of pure follicle
stimulating hormone (FSH) with that of FSH/human menopausal gonadotrophin
(HMG) combination in downregulated cycles. A total of 357 patients was
evaluated retrospectively. Sixty percent of patients in the FSH group and
55% in the FSH/HMG group were new; the others were repeat patients.
Ovulation was suppressed with leuprolide acetate in all patients, followed
by either FSH (n = 218) or FSH/HMG (n = 119). There was no difference in
patients' age, infertility factors, number of ampoules used, length of
stimulation, oestradiol levels on day of human chorionic gonadotrophin
(HCG) administration, number of oocytes recovered or the number of embryos
transferred. Also, nuclear maturity at aspiration and fertilization rates
were not different between the two groups. FSH stimulation resulted in a
significantly higher percentage of mature oocytes that showed the typical
'mature' morphological characteristics (P < 0.0001). The clinical
pregnancy rates per transfer were 40 and 28% in patients stimulated with
pure FSH and FSH/HMG respectively (P < 0.05). The significantly higher
number of immature oocytes matured in vitro in the FSH/HMG group (P =
0.001) suggests a possible effect on in-vitro maturation, due to
luteinizing hormone present in HMG. The difference in mature oocyte quality
may be an important determinant in the higher pregnancy rates for the FSH-
stimulated patients.
相似文献
37.
JP Damsin JY Zambelli R Ma J Roume F Colonna L Hannoun 《Surgical and radiologic anatomy : SRA》1995,17(1):13-17
Summary Varus deformity of the knee is common in young children who have suffered from fulminating purpura. This study was directed at the anatomic features of the vascularisation of the upper end of the tibia that might account for such deformation. It was based on the dissection of 28 anatomic specimens prepared by injection of Indian ink into the vascular trunk. 16 specimens were diaphanised for better analysis of the intracartilaginous distribution of the vessels. The study showed that the vascularisation of the medial condyle of the tibia is poor and of terminal nature, which may explain the occurrence of ischemic growth disorders following fulminating purpura.
Etude de la vascularisation artérielle du condyle médial du tibia chez le foetus
Résumé Les déformations en varus du genou chez les jeunes enfants ayant présenté un purpura fulminans sont fréquentes. Ce travail a pour objet de rechercher les caractéristiques anatomiques de la vascularisation de l'extrémité supérieure du tibia qui peuvent expliquer ces déformations. L'étude porte sur la dissection de 28 pièces anatomiques préparées par injection de l'axe vasculaire à l'encre de Chine. Pour mieux analyser la répartition intra-cartilagineuse des vaisseaux, 16 pièces ont été diaphanisées. Cette étude montre que la vascularisation du condyle médial du tibia est pauvre, de type terminal, ce qui peut expliquer la survenue de troubles de croissance ischémiques dans les suites d'un purpura fulminans.相似文献
38.
MR Sanguina R Perotta F Brunelli A Gilbert JP Lassau 《Surgical and radiologic anatomy : SRA》1994,16(1):111-112
Summary A cortico-cancellous flap from the anterolateral aspect of the upper third of the tibia was presented. Sixty lower limbs of fresh cadavers were dissected. The vascular bundle includes the anterior tibial artery and its recurrent collateral branches and recurrent and muscllo periostal arteries. The flap is harvested with the interosseous membrane and can be used either free or pedicled. We used this flap for two patients suffering from pseudarthrosis. Long range clinical and radiological results are good.
Le transfert osseux vascularisé tibial superieur
Résumé Les auteurs décrivent un transfert ostéo-periosté vascularisé, prélevé sur la face antéro-latérale de l'extremité supérieure du tibia. L'étude anatomique porte sur soixante membres inférieurs, conservés au froid. La vascularisation métaphysaire du transfert provient de la branche récurrente tibiale antérieure et de ses rameaux, la vascularisation diaphysaire étant issue des branches musculo-périostiées proximales. Le transfert vascularisé est prélevé avec la membrane interosseuse et peut être pediculé ou libre. L'expérience clinique porte sur deux cas de pseudarthroses multiopérées. Les résultats cliniques et radiologiques sont bons à long terme.相似文献
39.
40.
MA Mayoux-Benhamou JP Barbet F Bargy C Vallée M Revel 《Surgical and radiologic anatomy : SRA》1990,12(3):181-185
Summary Biomechanical models of the cervical spine require knowledge of the position, size and orientation of the individual muscles that act on the cervical spine. We have developed a technique to stereometrically measure anatomical specimens. The apparatus is composed of three graduated metallic rods, which slide along a fixed support. This method is accurate to map the anatomy of individual muscles and provides quantitative data on their lines of action. Results are obtained from one specimen. The computer processing of the collected data allows formulation of a three-dimensional model of the neck muscles in man.
Méthode d'étude anatomique quantitative des muscles de la nuqueEtude préliminaire
Résumé Pour élaborer un modèle biomécanique de la colonne cervicale, il faut connaître la position, la taille et l'orientation des différents muscles du cou. Nous avons mis au point une méthode de mesure stéréométrique sur des sujets anatomiques. L'appareil est composé de 3 axes métalliques gradués qui coulissent sur un support fixe. Cette technique permet une étude anatomique précise de chacun des muscles de la nuque, fournissant des données quantitatives sur les différents faisceaux ou lignes d'action. Les résultats sont obtenus sur un sujet. Leur traitement informatique permettra l'élaboration d'un modèle mathématique tridimensionnel des muscles du cou chez l'homme.相似文献