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21.
22.
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy 总被引:2,自引:0,他引:2
Pan TC; Zhang RZ; Pericak-Vance MA; Tandan R; Fries T; Stajich JM; Viles K; Vance JM; Chu ML; Speer MC 《Human molecular genetics》1998,7(5):807-812
The Bethlem myopathy is a rare autosomal dominant proximal myopathy
characterized by early childhood onset and joint contractures. Evidence for
linkage and genetic heterogeneity has been established, with the majority
of families linked to 21q22.3 and one large family linked to 2q37,
implicating the three type VI collagen subunit genes, COL6A1 (chromosome
21), COL6A2 (chromosome 21) and COL6A3 (chromosome 2) as candidate genes.
Mutations of the invariant glycine residues in the triple-helical
domain-coding region of COL6A1 and COL6A2 have been reported previously in
the chromosome 21-linked families. We report here the identification of a
G-->A mutation in the N-terminal globular domain-coding region of COL6A3
in a large American pedigree (19 affected, 12 unaffected), leading to the
substitution of glycine by glutamic acid in the N2 motif, which is
homologous to the type A domains of the von Willebrand factor. This
mutation segregated to all affected family members, to no unaffected family
members, and was not identified in 338 unrelated Caucasian control
chromosomes. Thus mutations in either the triple-helical domain or the
globular domain of type VI collagen appear to cause Bethlem myopathy.
相似文献
23.
An allergic reaction following intrauterine insemination 总被引:1,自引:0,他引:1
Intrauterine insemination is a common procedure used for the treatment of
different causes of infertility. Adverse reactions associated with this
procedure are very rare and usually the procedure is well tolerated by the
patient. We report a case of an allergic reaction after intrauterine
insemination. The patient developed fever, difficulty breathing and
wheezing in both lung fields. Although a low concentration of penicillin in
the medium was used, it caused a significant allergic reaction. When
intrauterine insemination was performed in subsequent cycles with an
antibiotic-free medium, no allergic reaction occurred, and the procedure
was well tolerated by the patient. A careful allergy history is essential
in patients pursuing infertility treatment where antibiotics are utilized.
Patients who are known to be allergic to penicillin should have semen
prepared by an antibiotic-free medium.
相似文献
24.
Horne G; Jamaludin A; Critchlow JD; Falconer DA; Newman MC; Oghoetuoma J; Pease EH; Lieberman BA 《Human reproduction (Oxford, England)》1998,13(11):3045-3048
Insemination with donor spermatozoa is an integral part of infertility
treatment. For the last 3 years in our unit, intrauterine insemination with
donor spermatozoa (IUID) has been used in preference to vaginal
insemination. In this retrospective study, patients were offered an initial
course of five single intrauterine inseminations with cryopreserved donor
spermatozoa and treatment was then reviewed. A total of 389 patients
received 1465 inseminations. In all, 1119 cycles were monitored using
luteinizing hormone serum analyses and 346 cycles using the urine home test
kits. The clinical pregnancy rate per insemination for the cycles monitored
by the serum assay was 18.0% (202/1119) compared with the urine cycles
(13.7%, 46/346) (P <05). The pregnancy loss rate was not significantly
different (14.4%, 29/202 and 21.7%, 10/46) (serum and urine cycles
respectively). The viable clinical pregnancy rate was significantly higher
(P <03) for the serum cycles than for the cycles using the urinary
monitoring (15.5%, 173/1119 and 10.4%, 36/346 respectively). The cycles
monitored by serum assay had a significantly higher cumulative viable
clinical pregnancy rate (P <0001) of 70.2% after nine inseminations
compared with the urine monitored cycles of 54.8%. The majority of patients
opted for the serum cycles, with a minority self-selecting the urine cycles
mainly for travelling convenience. The explanation for the significant
differences between the viable clinical pregnancy rates per insemination
and the cumulative viable clinical pregnancy rates may be due to the
sensitivity of the urine home test kit or the patients' interpretation of
the result.
相似文献
25.
D Hassine G Rougereau JM Feron MC Henry-Feugeas V Fabre JC Sadik E Schouman-Claeys 《Surgical and radiologic anatomy : SRA》1994,16(3):293-301
Summary The angular points are the ligamentous and tendinous structures that reinforce the posteromedial and posterolateral capsule of the knee and share in fixation of the posterior horns of the menisci. They are often damaged in acute injuries and this is usually associated with ruptures of the cruciate and collateral ligaments and may add to the degree of laxity. We describe the normal appearance of these structures in terms of the sectional anatomy, correlated with the lesional appearances of complete and incomplete ruptures and associated meniscal detachments as shown by clinical testing and arthrotomy findings.
IRM des points d'angle du genou : bases anatomiques et applications aux genoux traumatiques
Résumé Les points d'angle sont des structures ligamentaires et tendineuses qui renforcent la capsule postéro-médiale et postéro-latérale et participent à la fixation des cornes postérieures des ménisques. Leurs lésions, fréquentes au cours des traumatismes aigus, sont généralement associées à des ruptures des ligaments croisés et des ligaments collatéraux et peuvent être source d'une aggravation de la laxité. Nous rapportons, en corrélation avec l'anatomie en coupe, l'aspect normal de ces structures, et en corrélation avec les données de l'arthrotomie et du testing les aspects lésionnels observés au cours des traumatismes : ruptures complètes, incomplètes et désinsertions méniscales associées.相似文献
26.
A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis 总被引:3,自引:0,他引:3
27.
Determination of the parent of origin in nine cases of prenatally detected chromosome aberrations found after intracytoplasmic sperm injection 总被引:1,自引:17,他引:1
Van Opstal D; Los FJ; Ramlakhan S; Van Hemel JO; Van Den Ouweland AM; Brandenburg H; Pieters MH; Verhoeff A; Vermeer MC; Dhont M; In't Veld PA 《Human reproduction (Oxford, England)》1997,12(4):682-686
Prenatal cytogenetic analysis of 71 fetuses conceived by intracytoplasmic
sperm injection (ICSI) resulted in the detection of nine (12.7%) chromosome
aberrations including two cases of 47,XXY, four cases involving a 45,X cell
line and three autosomal trisomies. Molecular analysis of the parental
origin of the deleted or supernumerary chromosome was performed by using
polymorphic microsatellite markers. Six cases involving a sex chromosome
abnormality were found to be of paternal origin while the two trisomic
cases that could be analysed were of maternal origin. Two cases involved
the same infertile couple who had two consecutive ICSI pregnancies
terminated because of a chromosome abnormality. The replaced embryos in
both cases originated from a single batch of ICSI fertilized oocytes of
which part was used to initiate the first pregnancy and part was
cryopreserved and used to initiate the second pregnancy.
相似文献
28.
Harry S. Spaulding Jr. M.D.COL MC Lyndon E. Mansfield M.D.LTC MC Mark R. Stein M.D. John C. Sellner M.D. Daniel E. Gremillion M.D. 《The Journal of allergy and clinical immunology》1982,69(6):516-521
A double-blind modification of the intraesophageal acid perfusion challenge (Bernstein procedure) was performed in asthmatic subjects with and without gastroesophageal reflux, nonasthmatic subjects with reflux, and normal subjects. Conventional spirometric functions and total respiratory resistance (Rrs) were measured prior to and after the infusion. There were no changes in pulmonary functions except in the asthmatic subjects who had had a positive add challenge. The greatest changes occurred in Rrs, which increased significantly with reflux symptoms (p < 0.01) and decreased toward baseline (p < 0.05) when these symptoms were relieved with antacids. The response was even greater in asthmatic subjects who associated reflux symptoms with attacks of asthma. These results support previous findings that acid reflux symptoms could cause a bronchoconstrictive response in certain asthmatic patients. 相似文献
29.
Is the outcome of in-vitro fertilization and embryo transfer treatment improved by spontaneous or surgical drainage of a hydrosalpinx? 总被引:4,自引:7,他引:4
Sowter MC; Akande VA; Williams JA; Hull MG 《Human reproduction (Oxford, England)》1997,12(10):2147-2150
A pilot study was designed to examine whether the outcome of embryo
transfer in women with a hydrosalpinx might be improved by surgical
drainage of the hydrosalpinx at the time of oocyte collection for in- vitro
fertilization treatment. A comparative, controlled but retrospective
analysis of the results was performed of all women with infective tubal
damage aged <40 years old, who had ovulatory cycles, a normal uterus and
a partner with normal spermatozoa. A standardized treatment regimen was
used. A maximum of three embryos were transferred. Hydrosalpinx was defined
by prior hysterosalpingography and/or laparoscopy with transcervical dye
injection. A total of 237 embryo transfer cycles in women with
hydrosalpinges (tubal distension not visible in 151, visible but not
drained in 30 and drained in 56) were compared with 705 embryo transfer
cycles in women with tubal disease but no hydrosalpinx. Results were
analysed in the first three cycles but also separately in the first cycle
to check for bias. Success rates were higher in the first cycle, but did
not significantly influence overall differences. Implantation rates were
significantly reduced overall in the hydrosalpinx group (8.0 versus 13.2%
for controls; P < 0.001), being 8.3% (P < 0.01) in the subgroup
without evident tubal distension and 7.5% (not significant) in the drained
hydrosalpinx group. This study shows that tubal damage with distal
occlusion is associated with a marked reduction in embryo implantation,
even in the absence of obvious fluid distension. Surgical drainage of
distended hydrosalpinges appears to offer no benefit.
相似文献
30.
Canfield MC; Tamarappoo BK; Moses AM; Verkman AS; Holtzman EJ 《Human molecular genetics》1997,6(11):1865-1871
Congenital nephrogenic diabetes insipidus (NDI) is a rare disease caused
most often by mutations in the vasopressin V2 receptor (AVPR2). We studied
a family which included a female patient with NDI with symptoms dating from
infancy. The patient responded to large doses of desmopressin (dDAVP) which
decreased urine volume from 10 to 4 I/day. Neither the parents nor the
three sisters were polyuric. The patient was found to be a compound
heterozygote for two novel recessive point mutations in the aquaporin-2
(AQP2) gene: L22V in exon 1 and C181W in exon 3. Residue Cys181 in AQP2 is
the site for inhibition of water permeation by mercurial compounds and is
located near to the NPA motif conserved in all aquaporins. Osmotic water
permeability (Pf) in Xenopus oocytes injected with cRNA encoding C181W-AQP2
was not increased over water control, while expression of L22V cRNA
increased the Pf to approximately 60% of that for wild-type AQP2.
Co-injection of the mutant cRNAs with the wild-type cRNA did not affect the
function of the wild-type AQP2. Immunolocalization of AQP2-transfected CHO
cells showed that the C181W mutant had an endoplasmic reticulum-like
intracellular distribution, whereas L22V and wild-type AQP2 showed endosome
and plasma membrane staining. Water permeability assays showed a high Pf in
cells expressing wild-type and L22V AQP2. This study indicates that AQP2
mutations can confer partially responsive NDI.
相似文献