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981.
Successful outcome with day 4 embryo transfer after preimplantation diagnosis for genetically transmitted diseases 总被引:4,自引:5,他引:4
Preimplantation genetic diagnosis was performed in 61 day 3 embryos
obtained by in-vitro fertilization from seven patient carriers of
haemophilia, Marfan's syndrome, Bloch-Sulzemberg syndrome (incontinentia
pigmentosa) or X chromosome-linked immune deficiency, retinitis pigmentosa,
and FG syndrome, which is characterized by mental retardation and
hypotonia. After multiplex polymerase chain reaction, 16 embryos were
diagnosed as being unaffected, and these were transferred to the uterus on
the following day (day 4). Of these embryos, six (37.5%) implanted,
resulting in the delivery of a singleton and a twin pregnancy, a late
second trimester miscarriage (twins at week 20) and a first trimester
miscarriage at week 8. All the diagnoses were confirmed by amniocentesis.
We report for the first time a late day 4 transfer of biopsied human
embryos undergoing preimplantation genetic diagnosis. This transfer
schedule allows an extra day to perform genetic analyses on single
blastomeres and to monitor any adverse effect of the biopsy procedure.
相似文献
982.
Volker Schmidt Susanne Schneider Julian Schlömer Maria-Elisabeth Krautwald-Junghanns Elvira Richter 《Avian pathology》2008,37(6):589-592
The present report describes a case of Mycobacterium tuberculosis infection in an African Grey parrot (Psittacus erithacus erithacus) kept as a pet bird. Diagnosis was confirmed by microbiologic and pathologic results, and indicated a human–avian transmission. Clinical signs included sublingual nodules resulting in anorexia and signs of osteolysis in the long bones. Proliferation consisted of several nodules with small greenish-caseous foci in cross-section and revealed a severe granulomatous inflammation without intralesional acid-fast rods. M. tuberculosis was cultured from a pooled sample of sublingual and liver nodules, and was confirmed via polymerase chain reaction. Transmission between men and parrot was proved by spoligotyping pattern analysis. The absence of facial skin lesions and acid-fast rods within the tubercles is contrary to previous publications of tuberculosis in birds. This disease in a common pet bird species is of zoonotic importance, and those parrots with close contact to owners suffering from tuberculosis may serve as a potential reservoir for human infection. 相似文献
983.
984.
Differences of E-cadherin expression levels and patterns in primary and metastatic human lung cancer 总被引:6,自引:0,他引:6
Malte Böhm Baldur Totzeck Walter Birchmeier Ilse Wieland 《Clinical & experimental metastasis》1994,12(1):55-62
Normal lung epithelium and 52 lung carcinomas obtained at surgical resection were examined by immunofluorescence for their expression levels and patterns of the calcium-dependent intercellular adhesion molecule E-cadherin. In dysplastic lung tissue and in well-differentiated squamous cell and adenocarcinomas, expression of E-cadherin was confined to the lateral cell border, similar to the expression level and pattern of normal lung tissue. The E-cadherin level was reduced and expression pattern was spotty or diffuse in moderately and poorly differentiated squamous cell and in small cell carcinomas of the lung. Most metastases resected also had a reduced level and an altered pattern of E-cadherin expression. In contrast, no such correlation was found in adenocarcinomas of the lung. This indicates that different cellular mechanisms are responsible in the progression of squamous cell carcinomas and adenocarcinomas of the lung. 相似文献
985.
986.
A. G. Fahrenkamp C. Wibbeke W. Böcker K. W. Schmid G. Winde D. Öfner R. Fischer-Colbrie 《Virchows Archiv : an international journal of pathology》1995,426(4):361-367
The aim of the present study was to investigate immunohistochemically the distribution of chromogranin A, chromogranin B, and secretogranin II in a series of 152 neuroendocrine tumours of the gastrointestinal tract. Tumour tissues from 25 argyrophil gastric carcinoids, 18 gastrin and 5 somatostatin-producing tumours, 4 gangliocytic paragangliomas, 49 classical argentaffin and 2 L cell appendiceal carcinoids, 27 classical ileal carcinoids, 17 rectal carcinoids, and 5 poorly differentiated neuroendocrine tumours of the stomach and rectum were immunostained with antibodies against chromogranin A, chromogranin B, and secretogranin II. Chromogranin A was the major granin expressed in gastric carcinoids and in serotonin-producing carcinoids of the appendix and the ileum. In contrast, strong chromogranin B and secretogranin II immunoreactivity was found in rectal carcinoids, in which chromogranin A was rarely expressed. Since chromogranin A is a widely used marker for neuroendocrine differentiation, it is of diagnostic importance that some gastrin-producing tumours, gangliocytic paragangliomas, poorly differentiated neuroendocrine carcinomas, and appendiceal L cell carcinoids completely lacked chromogranin A positivity. It is concluded that the various neuroendocrine tumours of the gastrointestinal tract show distinctly different patterns of granin expression, probably reflecting their histogenetical origin. 相似文献
987.
Michael Heming Xiaolin Li Saskia Räuber Anne K. Mausberg Anna-Lena Börsch Maike Hartlehnert Arpita Singhal I-Na Lu Michael Fleischer Fabian Szepanowski Oliver Witzke Thorsten Brenner Ulf Dittmer Nir Yosef Christoph Kleinschnitz Heinz Wiendl Mark Stettner Gerd Meyer zu Hörste 《Immunity》2021,54(1):164-175.e6
988.
Sönmez AS Yasar L Savan K Koç S Ozcan J Toklar A Yazicioğu F Akgün A Sut N 《Human reproduction (Oxford, England)》2005,20(1):175-179
BACKGROUND: The aim of this study was to evaluate the effects of metformin and acarbose on insulin resistance, hormone profiles and ovulation rates in patients with clomiphene citrate-resistant polycystic ovary syndrome (PCOS). METHODS: Thirty clomiphene citrate-resistant patients were selected randomly and divided into two groups. Group I was treated with 100 mg/day clomiphene citrate and 300 mg/day acarbose 100 mg/day orally, for 3 months. Group II was treated with clomiphene citrate 100 mg/day and metformin 1700 mg/day orally, for 3 months. Serum fasting insulin and glucose, FSH, LH, estradiol, progesterone, prolactin and total testosterone levels plus body mass index (BMI) were measured before and after treatment. Follicle growth was followed by transvaginal ultrasonography. RESULTS: LH:FSH ratio and total testosterone concentrations decreased (P<0.05) and ovulation rates increased in both groups. Reduction in weight and BMI was only significant in the acarbose group. CONCLUSIONS: Both treatment modalities were effective in the treatment of insulin resistance and improving ovulation rates. Increase in the number of eumenorrhoeic and normoinsulinaemic cases and decrease in the number of insulin-resistant cases were significant in both groups (P<0.05). Ovulation rate was greater in the metformin group in the second month of therapy (P<0.05). Acarbose was found to be a safe and effective agent that could be used in cases with clomiphene-resistant PCOS. 相似文献
989.
The purpose of the present study was to investigate the interaction between the pre-landing activities and the stiffness
regulation of the knee joint musculoskeletal system and the takeoff speed during a drop jump (DJ). Nine healthy male subjects
performed a DJ test from the height of 50 cm. The surface electromyographic (EMG) activity of the vastus lateralis (VL) muscle
was recorded to evaluate both the pre-landing and post-landing muscle activation levels. Simultaneous recording of the jumping
motion and ground reaction force was performed by a high-speed video camera (100 frames·s–1), and a force platform was employed to allow joint moment analysis. Joint stiffness was calculated by a linear regression
of the knee joint moment/angle relationship. Elasticity of the knee extensor muscle during DJ was estimated by means of a
four-element muscle model consisting of a parallel elastic component, a series elastic component (SEC), a viscous damper,
and a contractile element. DJ performance correlated positively with the positive peak power of the knee joint (P<0.01) and with the moment of the knee joint at the end of stretch (P<0.01). However, there was no significant relationship between DJ performance and the positive peak power of the ankle joint.
The knee joint moment at the end of stretch correlated with the SEC stiffness during the transmission phase from the end of
the initial impact to the onset of the concentric action (P<0.01) and with the maximum rate of isometric force development of the knee extensors (P<0.01). Multiple regression analysis showed that the SEC stiffness during the transmission phase of the knee joint can be
explained by a combination of the pre-activity of the VL muscle and the knee joint angular velocity at touchdown (F=5.76, P<0.05). These results seem to emphasize the functional significance of the pre-programmed activity for controlling the subsequent
stiffness regulation and then contributing to the performance in DJ. Thus, it can be suggested that the centrally pre-programmed
activity and the associated elastic behavior of the SEC in the knee extensor muscle in conjunction with the muscle contractile
property play a major role in regulating the performance in DJ.
Electronic Publication 相似文献
990.
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy 总被引:4,自引:0,他引:4
Topçu M Akyerli C Sayi A Törüner GA Koçoğlu SR Cimbiş M Ozçelik T 《European journal of human genetics : EJHG》2002,10(1):77-81
Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal X-chromosome, and also the early postnatal lethal effect of the disease causing mutations in hemizygous boys. We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X. Chromosome analysis showed normal karyotype. These results indicate that a MECP2 mutation associated with Rett syndrome in females could lead to a similar phenotype in males as a result of somatic mosaicism. 相似文献