20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: Narrowing of the 9p duplication critical region to 6 Mb

2002 ◽  
Vol 112 (2) ◽  
pp. 154-159 ◽  
Author(s):  
Maria Clara Bonaglia ◽  
Roberto Giorda ◽  
Romeo Carrozzo ◽  
Maria Elena Roncoroni ◽  
Rita Grasso ◽  
...  
2009 ◽  
Vol 149A (2) ◽  
pp. 272-276 ◽  
Author(s):  
Ying S. Zou ◽  
Xin-Li Huang ◽  
Masamichi Ito ◽  
Stephanie Newton ◽  
Jeff M. Milunsky

2013 ◽  
Vol 53 (1) ◽  
pp. 49-53 ◽  
Author(s):  
Norimasa Mitsui ◽  
Kenji Shimizu ◽  
Hiroshi Nishimoto ◽  
Hiroshi Mochizuki ◽  
Masao Iida ◽  
...  

1995 ◽  
Vol 59 (2) ◽  
pp. 161-163 ◽  
Author(s):  
Demetrios S. Theodoropoulos ◽  
Janet M. Cowan ◽  
Ellen R. Elias ◽  
Cynthia Cole

Author(s):  
Amal M. Mohamed ◽  
Alaa K. Kamel ◽  
Maha M. Eid ◽  
Ola M. Eid ◽  
Mona Mekkawy ◽  
...  

2013 ◽  
Vol 18 (5) ◽  
pp. 1-10 ◽  
Author(s):  
Charles N. Brooks ◽  
James B. Talmage

Abstract Meniscal tears and osteoarthritis (osteoarthrosis, degenerative arthritis, or degenerative joint disease) are two of the most common conditions involving the knee. This article includes definitions of apportionment and causes; presents a case report of initial and recurrent tears of the medial meniscus plus osteoarthritis (OA) in the medial compartment of the knee; and addresses questions regarding apportionment. The authors, experienced impairment raters who are knowledgeable regarding the AMA Guides to the Evaluation of Permanent Impairment (AMA Guides), show that, when instructions on impairment rating are incomplete, unclear, or inconsistent, interrater reliability diminishes (different physicians may derive different impairment estimates). Accurate apportionment of impairment is a demanding task that requires detailed knowledge of causation for the conditions in question; the mechanisms of injury or extent of exposures; prior and current symptoms, functional status, physical findings, and clinical study results; and use of the appropriate edition of the AMA Guides. Sometimes the available data are incomplete, requiring the rating physician to make assumptions. However, if those assumptions are reasonable and consistent with the medical literature and facts of the case, if the causation analysis is plausible, and if the examiner follows impairment rating instructions in the AMA Guides (or at least uses a rational and hence defensible method when instructions are suboptimal), the resulting apportionment should be credible.


2007 ◽  
Vol 12 (3) ◽  
pp. 4-7
Author(s):  
Charles N. Brooks ◽  
Christopher R. Brigham

Abstract Multiple factors determine the likelihood, type, and severity of bodily injury following a motor vehicle collision and, in turn, influence the need for treatment, extent of disability, and likelihood of permanent impairment. Among the most important factors is the change in velocity due to an impact (Δv). Other factors include the individual's strength and elasticity, body position at the time of impact, awareness of the impending impact (ie, opportunity to brace, guard, or contract muscles before an impact), and effects of braking. Because Δv is the area under the acceleration vs time curve, it combines force and duration and is a useful way to quantify impact severity. The article includes a table showing the results of a literature review that concluded, “the consensus of human subject research conducted to date is that a single exposure to a rear-end impact with a Δv of 5 mph or less is unlikely to result in injury” in most healthy, restrained occupants. Because velocity incorporates direction as well as speed, a vehicular occupant is less likely to be injured in a rear impact than when struck from the side. Evaluators must consider multiple factors, including the occupant's pre-existing physical and psychosocial status, the mechanism and magnitude of the collision, and a variety of biomechanical variables. Recommendations based solely on patient history and physical findings (and, perhaps, imaging studies) may be ill-informed.


1994 ◽  
Vol 13 (3) ◽  
pp. 599-614 ◽  
Author(s):  
Daniel M. Veltri ◽  
Russell F. Warren

2020 ◽  
Vol 41 (6) ◽  
pp. 436-441 ◽  
Author(s):  
Daniel A. Rosloff ◽  
Kunal Patel ◽  
Paul J. Feustel ◽  
Jocelyn Celestin

Background: Undifferentiated somatoform (US) idiopathic anaphylaxis (IA) is considered a psychogenic disorder characterized by a lack of observable physical findings and poor response to treatment. Although failure to diagnose true anaphylaxis can have disastrous consequences, identification of US-IA is crucial to limit unnecessary expenses and use of health care resources. Objective: To better define the presentation and understand the potential relationship between US-IA and underlying psychiatric comorbidities. Methods: We retrospectively reviewed 110 visits by 107 patients to our institution for evaluation and management of anaphylaxis over a 1-year period. The patients were classified as having either criteria positive (CP) or criteria negative (CN) anaphylaxis based on whether they met Second National Institute of Allergy and Infectious Disease/Food Allergy and Anaphylaxis Network Symposium criteria for the clinical diagnosis of anaphylaxis. Patient characteristics, including objective and subjective signs and symptoms, and the presence of psychiatric diagnoses were collected and analyzed. Statistical significance was assessed by using the Fisher exact test. A literature review of US-IA and other psychogenic forms of anaphylaxis was performed. Results: Patients with CP anaphylaxis were more likely to present with hypotension, wheezing, urticaria, and vomiting than were patients with CN anaphylaxis. The patients with CN anaphylaxis were more likely to present with subjective symptoms of sensory throat tightness or swelling compared with patients with CP anaphylaxis. No significant difference was detected in the prevalence of psychiatric conditions between the two groups. Conclusion: Patients who met previously established diagnostic criteria for anaphylaxis were more likely to present with objective physical findings than those who did not meet criteria for true anaphylaxis. CN patients who presented for treatment of anaphylaxis were more likely to present with subjective symptoms. Formal diagnostic criteria should be used by clinicians when evaluating patients with suspected anaphylaxis.


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