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51.
Radwan Abu‐Issa 《Anatomical record (Hoboken, N.J. : 2007)》2014,297(2):175-182
In chick and mouse, heart fields undergo dynamic morphological spatiotemporal changes during heart tube formation. Here, the dynamic change in spatial polarity of such fields is discussed and a new perspective on the heart fields is proposed. The heart progenitor cells delaminate through the primitive streak and migrate in a semicircular trajectory craniolaterally forming the bilateral heart fields as part of the splanchnic mesoderm. They switch their polarity from anteroposterior to mediolateral. The anterior intestinal portal posterior descent inverts the newly formed heart field mediolateral polarity into lateromedial by 125° bending. The heart fields revert back to their original anteroposterior polarity and fuse at the midline forming a semi heart tube by completing their half circle movement. Several names and roles were assigned to different portions of the heart fields: posterior versus anterior, first versus second, and primary versus secondary heart field. The posterior and anterior heart fields define basically physical fields that form the inflow–outflow axis of the heart tube. The first and second heart fields are, in contrast, temporal fields of differentiating cardiomyocytes expressing myosin light chain 2a and undifferentiated and proliferating precardiac mesoderm expressing Isl1 gene, respectively. The two markers present a complementary pattern and are expressed transiently in all myocardial lineages. Thus, Isl1 is not restricted to a portion of the heart field or one of the two heart lineages as has been often assumed. Anat Rec, 297:175–182, 2014. © 2013 Wiley Periodicals, Inc. 相似文献
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53.
Tawfiq Froukh Omar Nafie Sana' A. S. Al Hait Lucia Laugwitz Julia Sommerfeld Marc Sturm Aya Baraghiti Tala Issa Anis Al-Nazer Philipp A. Koch Johannes Hanselmann Beate Kootz Peter Bauer Wael Al-Ameri Rami Abou Jamra Ayman J. Alfrook Moath Hamadallah Linda Sofan Angelika Riess Tobias B. Haack Olaf Riess Rebecca Buchert 《Clinical genetics》2020,97(4):621-627
We recruited 103 families from Jordan with neurodevelopmental disorders (NDD) and patterns of inheritance mostly suggestive of autosomal recessive inheritance. In each family, we investigated at least one affected individual using exome sequencing and an in-house diagnostic variant interpretation pipeline including a search for copy number variation. This approach led us to identify the likely molecular defect in established disease genes in 37 families. We could identify 25 pathogenic nonsense and 11 missense variants as well as 3 pathogenic copy number variants and 1 repeat expansion. Notably, 11 of the disease-causal variants occurred de novo. In addition, we prioritized a homozygous frameshift variant in PUS3 in two sisters with intellectual disability. To our knowledge, PUS3 has been postulated only recently as a candidate disease gene for intellectual disability in a single family with three affected siblings. Our findings provide additional evidence to establish loss of PUS3 function as a cause of intellectual disability. 相似文献
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55.
Sarah Issa Nadege Bondurand Emmanuelle Faubert Sylvain Poisson Laure Lecerf Patrick Nitschke Naima Deggouj Natalie Loundon Laurence Jonard Albert David Yves Sznajer Patricia Blanchet Sandrine Marlin Veronique Pingault 《Human mutation》2017,38(5):581-593
Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies. The clinical definition of four WS types is based on additional features due to defects in structures mostly arising from the neural crest, with type I and type II being the most frequent. While type I is tightly associated to PAX3 mutations, WS type II (WS2) remains partly enigmatic with mutations in known genes (MITF, SOX10) accounting for only 30% of the cases. We performed exome sequencing in a WS2 index case and identified a heterozygous missense variation in EDNRB. Interestingly, homozygous (and very rare heterozygous) EDNRB mutations are already described in type IV WS (i.e., in association with Hirschsprung disease [HD]) and heterozygous mutations in isolated HD. Screening of a WS2 cohort led to the identification of an overall of six heterozygous EDNRB variations. Clinical phenotypes, pedigrees and molecular segregation investigations unraveled a dominant mode of inheritance with incomplete penetrance. In parallel, cellular and functional studies showed that each of the mutations impairs the subcellular localization of the receptor or induces a defective downstream signaling pathway. Based on our results, we now estimate EDNRB mutations to be responsible for 5%–6% of WS2. 相似文献
56.
Background
Stress ulcer prophylaxis (SUP) is commonly used in hospitals. Although its indications are better delineated for intensive care unit (ICU) patients, its use in non-ICU settings is somewhat arbitrary and based on judgment.Objective
We attempted to assess the extent of SUP overuse in our hospital. We also carefully collected and analyzed several variables to detect associations governing this flawed behavior and its financial burden on the hospital’s budget.Materials and Methods
We retrospectively analyzed charts of patients admitted to the medical floor of a tertiary referral university hospital over a 1 year period. All adult patients admitted to the medical ward who received at least one dose of SUP were included and reviewed for a multitude of variables in addition to the appropriateness of acid suppression therapy (AST).Results
We included 320 charts and found that 92% of patients admitted during that period were not eligible for SUP. The total inappropriateness of SUP was noted to be 58% (p = 0.015). Increasing age and male gender were found to be significant variables in AST misuse (p = 0.045 and p = 0.010), much like duration of hospital stay (p = 0.008). Comorbidities was also found to be a defining variable for AST overuse (odds ratio [OR] = 3.27). Patients with two or more minor risk factors were also subjected more to SUP inappropriately (OR = 3.53), in addition to patients of certain specialties (Neurology, Infectious Diseases, etc.). Our calculated financial burden was more than $23,000 per year for the medical floor.Conclusion
This retrospective study confirmed the growing suspicion that SUP misuse is evident on the medical floors. We also delineated several factors and variables associated with and affecting SUP overuse. 相似文献57.
Vatsalya V Issa JE Hommer DW Ramchandani VA 《Alcoholism, clinical and experimental research》2012,36(2):207-213
Background: Growth hormone (GH)–insulin‐like growth factor‐1 (IGF‐1) axis and gonadal hormones demonstrate extensively associated regulation; however, little is known about the effects of acute alcohol exposure on these hormones. This study examined the effects of intravenous alcohol on the GH–IGF‐1 axis and gonadal hormone concentrations, and the influence of age and sex on their regulation. Methods: Forty‐eight healthy volunteers (24 men and 24 women each in the 21 to 25 and 55 to 65 year age groups) underwent a 2‐session single‐blinded study. Subjects received in randomized counter‐balanced order, alcohol infusions, individually computed based on a physiologically based pharmacokinetic model, to maintain a steady‐state (“clamped”) exposure of 50 mg% or saline for 3 hours in separate sessions. Blood samples collected at baseline and postinfusion in each session were assayed for levels of GH, IGF‐1, free testosterone, and estradiol. Results: Acute alcohol administration resulted in changes in gonadal hormones that differed by sex. Change in free testosterone showed a significant treatment × baseline interaction (p < 0.001), indicating that alcohol‐induced suppression of testosterone occurred predominantly in men. On the other hand, change in estradiol showed a significant treatment × sex interaction (p = 0.028), indicating that alcohol‐induced increases in estradiol occurred predominantly in women. There was a trend for alcohol‐induced decreases in IGF‐1 levels. Change in GH showed a significant main effect of baseline (p < 0.001) and a trend for treatment by baseline interaction, suggesting an alcohol‐induced decrease in individuals with high baseline GH values. There was also a significant main effect of sex (p = 0.046) indicating that men had greater changes in GH across treatment compared with women. Conclusions: Alcohol induced a complex pattern of hormonal responses that varied between younger and older men and women. Some of the observed sex‐based differences may help improve our understanding of the greater susceptibility to alcohol‐related hepatic damage seen in women. 相似文献
58.
Kimona Issa Qais Naziri Aditya V. Maheshwari Vijay J. Rasquinha Ronald E. Delanois Michael A. Mont 《The Journal of arthroplasty》2013
The purpose of this study was to compare the outcomes of cementless primary total hip arthroplasty (THA) in sickle cell patients compared to the remaining cohort of osteonecrosis patients who did not have this disease. Thirty-two sickle cell patients (42 hips) who had a mean age of 37 years and mean follow-up of 7.5 years (range, 5–11 years) were compared to 87 non-sickle cell osteonecrosis patients (102 hips) who had mean age of 43 years and mean follow-up of 7 years (range, 3–10.5 years). Outcomes evaluated included implant survivorship, Harris hip scores, complication rates, radiographic outcomes, and Short Form-(SF-36) health questionnaire. There were no significant differences in aseptic implant survivorship (95 vs. 97%), Harris hip scores (87 vs. 88 points), SF-36 score, or radiographic findings between the two patient cohorts. In light of these findings, we believe that the outcomes of THA improved in sickle cell patients with optimized medical management and the use of cementless prosthetic devices. 相似文献
59.
Steven F. Harwin Kimona Issa Qais Naziri Aaron J. Johnson Michael A. Mont 《The Journal of arthroplasty》2013
Total knee arthroplasty can be challenging in Jehovah's Witnesses, as these patients do not accept blood transfusions. We reported our experiences with a special blood management protocol for these patients who underwent total knee arthroplasty. There were 124 self-reported Jehovah's Witnesses who had a mean age of 64 years and who underwent total knee arthroplasties between 1998 and 2009. Mean follow-up was 60 months (range, 24-120 months). Implant survivorship, with revision for aseptic component failure as an end point, was 98%. At the final follow-up, mean Knee Society objective and function score improved to 91and 81 points, respectively. The authors believe that this blood management protocol was responsible for performing safe and transfusion-free total knee arthroplasties that can ultimately lead to excellent outcomes. 相似文献