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排序方式: 共有541条查询结果,搜索用时 15 毫秒
1.
Dina Marek‐Yagel Yoav Bolkier Ortal Barel Amir Vardi David Mishali Uriel Katz Yishay Salem Shachar Abudi Omri Nayshool Nitzan Kol Annick Raas‐Rothschild Gideon Rechavi Yair Anikster Ben Pode‐Shakked 《American journal of medical genetics. Part A》2020,182(5):987-993
The genetic basis of congenital heart malformations associated with disruption of left–right (L–R) asymmetry is broad and heterogenous, with variants in over 25 genes implicated thus far. Of these, deleterious variants in the Growth/Differentiation Factor 1 (GDF1) gene have been shown to cause heterotaxy with varied complex heart malformations of left–right patterning, in 23 individuals reported to date, either in monoallelic or biallelic state. We report three unrelated individuals exhibiting right isomerism with congenital heart defects, each originating from a consanguineous kindred of Arab‐Muslim descent. Using whole exome sequencing, a shared novel homozygous truncating c.608G > A (p.W203*) variant in the GDF1 gene was revealed as the molecular basis of their disease. Subsequently, targeted sequencing of this variant showed full segregation with the disease in these families, with a total of over 15 reportedly affected individuals, enabling genetic counseling, prenatal diagnosis, and planning of future pregnancies. Our findings further confirm the association of biallelic GDF1 variants, heterotaxy and congenital heart defects of left–right patterning, and expand the previously described phenotypic spectrum and mutational profile. Moreover, we suggest targeted screening for the p.W203* variant in relevant clinical circumstances. 相似文献
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Traditional models of synaptic transmission hold that release sites within an active zone operate independently. Although the release of multiple vesicles (multivesicular release; MVR) from single active zones occurs at some central synapses, MVR is not thought to require coordination among release sites. Ribbon synapses seem to be optimized to release many vesicles over an extended period, but the dynamics of MVR at ribbon synapses is unknown. We examined MVR at a ribbon synapse in a retinal slice preparation using paired recordings from presynaptic rod bipolar and postsynaptic AII amacrine cells. When evoked release was highly desynchronized, discrete postsynaptic events were larger than quantal miniature excitatory postsynaptic currents (mEPSCs) but had the same time course. The amplitude of these multiquantal mEPSCs, which seem to arise from the essentially simultaneous release of multiple vesicles, was reduced by lowering release probability. The release synchrony reflected in these multivesicular events suggests that release within an active zone is coordinated during MVR. 相似文献
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M. Vardi N. Petersil A. Keysary S. Rzotkiewicz A. Laor H. Bitterman 《European journal of clinical microbiology & infectious diseases》2011,30(12):1527-1530
Physicians often encounter patients who present with a vague clinical syndrome. A wide serological workup is often ordered,
which may include tests for Coxiella burnetii in endemic areas. Often, the results of these tests pose new dilemma, with overlapping positive laboratory assays. The objective
of this investigation was to characterise the serological overlap between acute Q fever and other infectious and immunological
diseases. We retrospectively scanned the files of patients with a positive or equivocal immunoglobulin (Ig) M for C. burnetii phase II over a period of 8 years in a general hospital. Clinical and laboratory data, including antibodies to infectious
agents and antibodies related to immunological states, were recorded. Anti-nuclear antibody (ANA), smooth muscle antibody
(SMA) and rheumatoid factor were positive in 38%, 33.3% and 22.2% of the cases, respectively. In patients with acute Q fever,
elevated IgM levels for Epstein–Barr Virus (EBV), cytomegalovirus (CMV), Mycoplasma pneumoniae, parvovirus, Bordetella pertussis, Rickettsia conorii and R. typhi were noted in 13.8%, 8.3%, 12.12%, 22.2%, 25%, 13% and 21.7% of cases, respectively. Acute Q fever induces a non-specific
immunological arousal in a significant number of patients. This may interfere with diagnosis and delay treatment. Caution,
clinical judgment and serological follow-up is warranted in such conditions. 相似文献
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Effects of robot‐assisted gait training in chronic stroke patients treated by botulinum toxin‐a: A pivotal study 下载免费PDF全文
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Lee Michael H. Leda Mariela Buchan Tayler Malik Abdullah Rigobon Alanna Liu Helen Daza Julian F. O’Brien Kathleen Stein Madeleine Hing Nicholas Ng Fat Siemeiniuk Reed Sekercioglu Nigar Evaniew Nathan Foroutan Farid Ross Heather Alba Ana Carolina 《Heart failure reviews》2022,27(2):455-464
Heart Failure Reviews - Previous primary studies have explored the association between blood pressure (BP) and mortality in ambulatory heart failure (HF) patients reporting varying and contrasting... 相似文献
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Dilek Akakin Demir Kiran Naziye Ozkan Mehmet Erşahin Zarife Nigar Ozdemir-Kumral Berrak Yeğen Göksel Şener 《Acta histochemica》2013
Spinal cord injury (SCI) induced oxidative stress affects multiple organ systems including the kidney. We studied the possible protective effects of melatonin on SCI-induced oxidative damage in renal tissues of rats. Wistar albino rats (n = 24) were exposed to SCI and divided into vehicle- or melatonin-treated SCI groups. Melatonin was administred intraperitoneally at a dose of 10 mg/kg for seven days. Renal tissues were investigated by light and electron microscopy. Furthermore, tissue malondialdehyde (MDA) and glutathione (GSH) levels and myeloperoxidase (MPO) and superoxide dismutase (SOD) activities were also determined. In the vehicle-treated SCI group, the renal histology was disturbed compared to controls, whereas the melatonin-treated SCI group showed significantly reduced degeneration of renal tissue as seen by both light and electron microscopy. MDA levels, MPO and SOD activities were increased and GSH levels were decreased in the vehicle-treated SCI group compared to controls. On the other hand, decreased MDA levels and MPO activities and increased GSH levels were observed in the melatonin-treated SCI group compared to vehicle-treated SCI group. These results showed that experimentally induced SCI caused oxidative stress in the rat kidney, whereas melatonin treatment reduced oxidative stress, suggesting that it may be used as a complementary therapy of renal problems occurring following SCI. 相似文献
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