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1.
Nocturnal pains of the leg were the only complaint of a 2 1/2-year-old girl with recurrent dislocations of the left hip. Unusual movement during sleep probably caused the dislocations. This case represents a benign entity characterized by spontaneous or voluntary posterior dislocations of the femoral head in young children without other significant connective tissue abnormalities. 相似文献
2.
J Chemke R Nisani A Feigl R Garty M Cooper Y B?rash D Duksin 《Journal of medical genetics》1984,21(3):173-177
Marfan syndrome is an autosomal dominant condition with varying phenotypic manifestations. Affected persons are usually heterozygotes. A family is presented in which the gene for this syndrome is segregating in a large number of members. Two sibs suffered from unusually severe, identical, and fatal manifestations from birth, their parents having mild cardiovascular and somatic symptoms common in Marfan syndrome. Investigation of collagen biosynthesis in fibroblasts revealed no abnormalities in fibronectin and procollagen I and III synthesis and secretion or in the procollagen to collagen conversion. We suggest that these two sibs are examples of homozygosity for the Marfan syndrome gene, based on the large number of affected members, the absence of additional consanguinity, manifestation of the syndrome in both parents, and the severity of the disease in the two sibs. 相似文献
3.
Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to viruses 总被引:12,自引:0,他引:12
Yang K Puel A Zhang S Eidenschenk C Ku CL Casrouge A Picard C von Bernuth H Senechal B Plancoulaine S Al-Hajjar S Al-Ghonaium A Maródi L Davidson D Speert D Roifman C Garty BZ Ozinsky A Barrat FJ Coffman RL Miller RL Li X Lebon P Rodriguez-Gallego C Chapel H Geissmann F Jouanguy E Casanova JL 《Immunity》2005,23(5):465-478
Five TLRs are thought to play an important role in antiviral immunity, sensing viral products and inducing IFN-alpha/beta and -lambda. Surprisingly, patients with a defect of IRAK-4, a critical kinase downstream from TLRs, are resistant to common viruses. We show here that IFN-alpha/beta and -lambda induction via TLR-7, TLR-8, and TLR-9 was abolished in IRAK-4-deficient blood cells. In contrast, IFN-alpha/beta and -lambda were induced normally by TLR-3 and TLR-4 agonists. Moreover, IFN-beta and -lambda were normally induced by TLR-3 agonists and viruses in IRAK-4-deficient fibroblasts. We further show that IFN-alpha/beta and -lambda production in response to 9 of 11 viruses tested was normal or weakly affected in IRAK-4-deficient blood cells. Thus, IRAK-4-deficient patients may control viral infections by TLR-3- and TLR-4-dependent and/or TLR-independent production of IFNs. The TLR-7-, TLR-8-, and TLR-9-dependent induction of IFN-alpha/beta and -lambda is strictly IRAK-4 dependent and paradoxically redundant for protective immunity to most viruses in humans. 相似文献
4.
Study of ECG-gated thallium-201 myocardial scintigraphy: Is imaging time a limiting factor? 总被引:2,自引:2,他引:0
Dr. I. Garty A. Kardontchik 《European journal of nuclear medicine and molecular imaging》1984,9(4):173-176
Twenty patients underwent gated synchronized 201Tl myocardial scanning (TMS). Twelve also performed a rest blood pool multigated acquisition (MUGA) study. A static image was obtained by adding all the gated frames of the study. In this way we found the conventional static study quite unnecessary.Comparing the gated TMS to the static one revealed significantly improved resolution in the gated images and additional information concerning wall motion and myocardial thickness. Close agreement was found with results of MUGA studies of the same patients.By the addition of diastolic frames the imaging time needed to obtain improved image quality was found to be not more than 10 min per view. The exclusion of imaging time as a limiting factor for gated TMS is stressed. 相似文献
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6.
Erez Geron Eyal D. Schejter Ben-Zion Shilo 《Proceedings of the National Academy of Sciences of the United States of America》2013,110(26):10652-10657
The final stage in exocrine secretion involves translocation of vesicles from their storage areas to the apical membrane. We show that actin-coated secretory vesicles of the exocrine pancreas travel this distance over bundles of specialized actin cables emanating from the apical plasma membrane. These bundles are stable structures that require constant G-actin incorporation and are distinct from the actin web that surrounds the exocrine lumen. The murine mammalian Diaphanous-related formin 1 (mDia1) was identified as a generator of these cables. The active form of mDia1 localized to the apical membrane, and introduction of an active form of mDia1 led to a marked increase in bundle density along the lumen perimeter. Compromising formation of the cables does not prevent secretion, but results in disorganized trafficking and fusion between secretory vesicles. Similar apical secretory tracks were also found in the submandibular salivary glands. Together with previous results that identified a role for Diaphanous in apical secretion in tubular organs of Drosophila, the role of Diaphanous formins at the final stages of secretion appears to be highly conserved. 相似文献
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9.
We describe a previously unreported neonatal presentation of an anomalous origin of the left coronary artery arising from the pulmonary artery. This is a full-term female infant after normal pregnancy and delivery. The baby was diagnosed at 2 days of age due to weak femoral pulses noted on the routine nursery discharge examination. The cardiac examination revealed weak pulses everywhere and mild tachypnea and tachycardia. An electrocardiogram showed clear signs of ischemia. Echocardiography demonstrated an anomalous origin of the left coronary artery arising from the pulmonary artery with bidirectional blood flow. There was a severely depressed left ventricular function and mild mitral valve regurgitation. At 4 days of age, the infant underwent complete successful surgical repair with reimplantation of the anomalous coronary artery to the aorta. She recovered slowly but well. Fifteen months later she is doing well with no cardiac residua. A neonatal presentation is very unusual due to protective high pulmonary resistance after birth, with gradual decline in pressure and gradual onset of heart failure. This case may be related to an unusually rapid drop in pulmonary vascular resistance causing very early cardiac ischemia. 相似文献
10.
IntroductionWomen who do not have a cooperative partner cannot complete the usual therapeutic process in the treatment of vaginismus, because they cannot progress to the stage of practicing the insertion of the man partner's fingers and the insertion of a penis.AimTo compare traditional couple therapy with therapy utilizing a surrogate partner.MethodsThe study was controlled and retrospective. Data were obtained from the treatment charts of patients who had come to the clinic for treatment of vaginismus. Sixteen vaginismus patients who were treated with a man surrogate partner were compared with 16 vaginismus patients who were treated with their own partners.Main Outcome MeasuresSuccessful pain-free intercourse upon completion of therapy.ResultsOne hundred percent of the surrogate patients succeeded in penile–vaginal intercourse compared with 75% in the couples group (P = 0.1). All surrogate patients ended the therapy because it was fully successful, compared with 69% in the couples group. Twelve percent of the couples group ended the therapy because it failed, and 19% because the couples decided to separate.ConclusionsTreating vaginismus with a man surrogate partner was at least as effective as couple therapy. Surrogate therapy may be considered for vaginismus patients who have no cooperative partner. Ben-Zion I, Rothschild S, Chudakov B, and Aloni R. Surrogate vs. couple therapy in vaginismus. 相似文献