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1.  An unusual case of swelling- Clarkson’s syndrome 
BMJ Case Reports  2011;2011:bcr0620114405.
Clarkson’s syndrome, also called idiopathic systemic capillary leak syndrome is a rare condition characterised by vascular hyper permeability resulting in extreme intravascular volume depletion. The syndrome is unique and almost paradoxical in its presentation, with findings initially suggesting overwhelming heart failure, but in reality the extra vascular fluid represents overt capillary leak, with ultimate intravascular volume depletion, a low output state and hypovolemic shock. Previously described characteristics have classically included severe oedema and anasarca with rapid, profound shock, typically accompanied by haemoconcentration. The authors describe a patient, initially seeming benign in presentation, who rapidly progressed with confusing findings of fluid overload by examination and imaging, ultimately manifesting these findings by severe capillary leak rather than hydrostatic oedema, with ultimate hypovolaemic shock, multisystem organ failure and death. Our aim is that by describing clinical, haemodynamic and pathologic descriptors of the disease, the authors can aid in increasing physician awareness of this unusual syndrome.
doi:10.1136/bcr.06.2011.4405
PMCID: PMC3176369  PMID: 22679048
5.  James Angus Doull and the well-controlled common cold 
doi:10.1258/jrsm.2008.08k009
PMCID: PMC2586871  PMID: 18840869
6.  Presentation of the 2009 Morris F Collen Award to Betsy L Humphreys, with remarks from the recipient 
The American College of Medical Informatics is an honorary society established to recognize those who have made sustained contributions to the field. Its highest award, for lifetime achievement and contributions to the discipline of medical informatics, is the Morris F Collen Award. Dr Collen's own efforts as a pioneer in the field stand out as the embodiment of creativity, intellectual rigor, perseverance, and personal integrity. The Collen Award, given once a year, honors an individual whose attainments have, throughout a whole career, substantially advanced the science and art of biomedical informatics. In 2009, the college was proud to present the Collen Award to Betsy Humphreys, MLS, deputy director of the National Library of Medicine. Ms Humphreys has dedicated her career to enabling more effective integration and exchange of electronic information. Her work has involved new knowledge sources and innovative strategies for advancing health data standards to accomplish these goals. Ms Humphreys becomes the first librarian to receive the Collen Award. Dr Collen, on the occasion of his 96th birthday, personally presented the award to Ms Humphreys.
doi:10.1136/jamia.2010.005728
PMCID: PMC2995660  PMID: 20595319
7.  The International ‘Balint’ Award – a rising opportunity for Romanian Medical Students  
Journal of Medicine and Life  2010;3(1):106-109.
The International ‘Balint’ Award for students, instituted by the Foundation for Psychosomatic and Social Medicine in honor of Michael and Enid Balint, has been a rising opportunity for Romanian medical and psychology students to achieve international fame. Romanian students have been among the winners of this award for the last 10 years, in competition with students from Ivy League and other illustrious universities.
The ‘Ascona model’ case presentation debates the psychological side of a medical case, while keeping in focus the diagnostic, pathology and treatment issues. This article focuses on explaining this type of case presentation in correlation with one of the papers submitted in the contest that has received this award in the 15th International Balint Congress.
The exposed case is that of a 17–year–old boy presenting with apparent stupor encountered by an emergency mobile unit. The patient was suspected of substance abuse and overdose but these suspicions were denied by the clinical exam. Further encounters led to the conclusion that both the boy and his whole family needed psychotherapy counseling and were referred there with great success.
PMCID: PMC3019028  PMID: 20302207
psychotherapy; Balint method; , Ascona model case presentation
11.  Frederick George Clarkson 
British Medical Journal  1868;2(394):72.
PMCID: PMC2310880
15.  Narrative Review: Clarkson Disease-Systemic Capillary Leak Syndrome 
Annals of internal medicine  2010;153(2):90-98.
In 1960, Dr. Bayard Clarkson described a patient experiencing sporadic episodes of hypovolemia, hypotension, and edema. Plasma during the acute attack induced a “shock”-like syndrome when given systemically in rats. The unusual and enigmatic “Systemic Capillary Leak Syndrome” (SCLS) named for Dr. Clarkson is of unknown etiology and is characterized by transient, severe, reversible hemoconcentration and hypoalbuminemia due to leakage of fluids and macromolecules (up to 900 kDa) into tissues (1). Fewer than 150 cases of SCLS have been reported since 1960, but the nonspecific presenting symptoms and signs and high mortality rate may have resulted in under-recognition of this disorder. Given the substantial overlap of SCLS with other “shock” syndromes, including sepsis, anaphylaxis, and angioedema, clinicians should consider this diagnosis in patients with unexplained edema, increased hematocrit, and hypotension.
doi:10.1059/0003-4819-153-2-201007200-00005
PMCID: PMC3017349  PMID: 20643990
16.  Idiopathic Systemic Capillary Leak Syndrome (Clarkson's Disease): The Mayo Clinic Experience 
Mayo Clinic Proceedings  2010;85(10):905-912.
OBJECTIVE: To determine clinical features, natural history, and outcome of a well-defined cohort of 25 consecutive patients with idiopathic systemic capillary leak syndrome (SCLS) evaluated at a tertiary care center.
PATIENTS AND METHODS: Records of patients diagnosed as having SCLS from November 1, 1981, through April 30, 2008, were reviewed. Descriptive statistics were used to analyze patient demographics, clinical features, complications, and therapeutic interventions.
RESULTS: Of the 34 patients whose records were reviewed, 25 fulfilled all diagnostic criteria for SCLS. The median age at diagnosis of SCLS was 44 years. Median follow-up of surviving patients was 4.9 years, and median time to diagnosis from symptom onset was 1.1 years (interquartile range, 0.5-4.1 years). Flulike illness or myalgia was reported by 14 patients (56%) at onset of an acute attack of SCLS, and rhabdomyolysis developed in 9 patients (36%). Patients with a greater decrease in albumin level had a higher likelihood of developing rhabdomyolysis (p=.03). Monoclonal gammopathy, predominantly of the IgG-κ type, was found in 19 patients (76%). The progression rate to multiple myeloma was 0.7% per person-year of follow-up. The overall response rate to the different therapies was 76%, and 24% of patients sustained durable (>2 years) complete remission. The estimated 5-year overall survival rate was 76% (95% confidence interval, 59%-97%).
CONCLUSION: Systemic capillary leak syndrome, a rare disease that occurs in those of middle age, is usually diagnosed after a considerable delay from onset of symptoms. The degree of albumin decrement during an attack correlates with development of rhabdomyolysis. A reduction in the frequency and/or the severity of attacks was seen in nearly three-fourths of patients who were offered empirical therapies. The rate of progression to multiple myeloma appears to be comparable to that of monoclonal gammopathy of undetermined significance.
A review of records of patients with this rare disease, which occurs during middle age, showed that systemic capillary leak syndrome is usually diagnosed after a considerable delay from onset of symptoms.
doi:10.4065/mcp.2010.0159
PMCID: PMC2947962  PMID: 20634497
17.  Genome-wide SNP analysis of the Systemic Capillary Leak Syndrome (Clarkson disease) 
Rare diseases (Austin, Tex.)  2013;1(1):e27445.
The Systemic Capillary Leak Syndrome (SCLS) is an extremely rare, orphan disease that resembles, and is frequently erroneously diagnosed as, systemic anaphylaxis. The disorder is characterized by repeated, transient, and seemingly unprovoked episodes of hypotensive shock and peripheral edema due to transient endothelial hyperpermeability. SCLS is often accompanied by a monoclonal gammopathy of unknown significance (MGUS). Using Affymetrix Single Nucleotide Polymorphism (SNP) microarrays, we performed the first genome-wide SNP analysis of SCLS in a cohort of 12 disease subjects and 18 controls. Exome capture sequencing was performed on genomic DNA from nine of these patients as validation for the SNP-chip discoveries and de novo data generation. We identified candidate susceptibility loci for SCLS, which included a region flanking CAV3 (3p25.3) as well as SNP clusters in PON1 (7q21.3), PSORS1C1 (6p21.3), and CHCHD3 (7q33). Among the most highly ranked discoveries were gene-associated SNPs in the uncharacterized LOC100130480 gene (rs6417039, rs2004296). Top case-associated SNPs were observed in BTRC (rs12355803, 3rs4436485), ARHGEF18 (rs11668246), CDH13 (rs4782779), and EDG2 (rs12552348), which encode proteins with known or suspected roles in B cell function and/or vascular integrity. 61 SNPs that were significantly associated with SCLS by microarray analysis were also detected and validated by exome deep sequencing. Functional annotation of highly ranked SNPs revealed enrichment of cell projections, cell junctions and adhesion, and molecules containing pleckstrin homology, Ras/Rho regulatory, and immunoglobulin Ig-like C2/fibronectin type III domains, all of which involve mechanistic functions that correlate with the SCLS phenotype. These results highlight SNPs with potential relevance to SCLS.
doi:10.4161/rdis.27445
PMCID: PMC4009617  PMID: 24808988
systemic capillary leak syndrome; genetics, genome-wide SNP study; cell junction; cell adhesion; cytoskeleton; vascular permeability
18.  Genome-wide SNP analysis of the Systemic Capillary Leak Syndrome (Clarkson disease) 
Rare Diseases  2013;1:e27445.
The Systemic Capillary Leak Syndrome (SCLS) is an extremely rare, orphan disease that resembles, and is frequently erroneously diagnosed as, systemic anaphylaxis. The disorder is characterized by repeated, transient, and seemingly unprovoked episodes of hypotensive shock and peripheral edema due to transient endothelial hyperpermeability. SCLS is often accompanied by a monoclonal gammopathy of unknown significance (MGUS). Using Affymetrix Single Nucleotide Polymorphism (SNP) microarrays, we performed the first genome-wide SNP analysis of SCLS in a cohort of 12 disease subjects and 18 controls. Exome capture sequencing was performed on genomic DNA from nine of these patients as validation for the SNP-chip discoveries and de novo data generation. We identified candidate susceptibility loci for SCLS, which included a region flanking CAV3 (3p25.3) as well as SNP clusters in PON1 (7q21.3), PSORS1C1 (6p21.3), and CHCHD3 (7q33). Among the most highly ranked discoveries were gene-associated SNPs in the uncharacterized LOC100130480 gene (rs6417039, rs2004296). Top case-associated SNPs were observed in BTRC (rs12355803, 3rs4436485), ARHGEF18 (rs11668246), CDH13 (rs4782779), and EDG2 (rs12552348), which encode proteins with known or suspected roles in B cell function and/or vascular integrity. 61 SNPs that were significantly associated with SCLS by microarray analysis were also detected and validated by exome deep sequencing. Functional annotation of highly ranked SNPs revealed enrichment of cell projections, cell junctions and adhesion, and molecules containing pleckstrin homology, Ras/Rho regulatory, and immunoglobulin Ig-like C2/fibronectin type III domains, all of which involve mechanistic functions that correlate with the SCLS phenotype. These results highlight SNPs with potential relevance to SCLS.
doi:10.4161/rdis.27445
PMCID: PMC4009617  PMID: 24808988
systemic capillary leak syndrome; genetics, genome-wide SNP study; cell junction; cell adhesion; cytoskeleton; vascular permeability
20.  Are Race, Ethnicity, and Medical School Affiliation Associated With NIH R01 Type Award Probability for Physician Investigators? 
Purpose
To analyze the relationship among NIH R01 Type 1 applicant degree, institution type, and race/ethnicity, and application award probability.
Method
The authors used 2000–2006 data from the NIH IMPAC II grants database and other sources to determine which individual and institutional characteristics of applicants may affect the probability of applications being awarded funding. They used descriptive statistics and probit models to estimate correlations between race/ethnicity, degree (MD or PhD), and institution type (medical school or other institution), and application award probability, controlling for a large set of observable characteristics.
Results
Applications from medical schools were significantly more likely than those from other institutions to receive funding, as were applications from MDs versus PhDs. Overall, applications from blacks and Asians were less likely than those from whites to be awarded funding; however, among applications from MDs at medical schools, there was no difference in funding probability between whites and Asians and the difference between blacks and whites decreased to 7.8 percentage points. The inclusion of human subjects significantly decreased the likelihood of receiving funding.
Conclusions
Compared with applications from whites, applications from blacks have a lower probability of being awarded R01 Type 1 funding, regardless of the investigator’s degree. However, funding probability is increased for applications with MD investigators and for those from medical schools. To some degree, these advantages combine so that applications from black MDs at medical schools have the smallest difference in funding probability compared with those from whites.
doi:10.1097/ACM.0b013e31826d726b
PMCID: PMC3485449  PMID: 23018334
21.  Excellence in cell signaling research recognized with major new award 
The newly installed Life Sciences Breakthrough Prize (http://www.breakthroughprizeinlifesciences.org/), which comes with more than double the financial reward of the Nobel Prize, has been awarded to several world-leaders in the field of cancer-related cell signaling and therapy research: Lewis C. Cantley (PI3 kinase), Hans Clevers (Wnt signaling), Charles L. Sawyers (signaling-targeted cancer therapy), Bert Vogelstein (colorectal cancer signaling) and Robert Weinberg (Ras & other cancer-relevant genes). They have all made remarkable contributions to our understanding of cell communication and malignancies over the last decades. Needless to say that virtually all other awardees of the 11 scientists honored in 2013 have also, in one way or another, touched upon signaling molecules, highlighting the fundamental interdisciplinarity and significance of signal transduction for living cells in general. For example, Shinya Yamanaka’s exciting work was built on the four transcriptional signaling proteins, Oct3/4, Sox2, Klf4 and c-Myc.
doi:10.1186/1478-811X-11-17
PMCID: PMC3599230  PMID: 23497077
23.  Saudi Thoracic Society annual award for achievement 
Annals of Thoracic Medicine  2009;4(2):39-40.
doi:10.4103/1817-1737.49410
PMCID: PMC2700488
25.  Society of Apothecaries' Awards 
British Medical Journal  1954;2(4882):298.
PMCID: PMC2078755

Results 1-25 (225501)