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Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

Schirwani, Schaida; Albaba, Shadi; Carere, Deanna Alexis; Guillen Sacoto, Maria J; Milan Zamora, Francisca; Si, Yue; Rabin, Rachel; Pappas, John; Renaud, Deborah L; Hauser, Natalie; Reid, Evan; Blanchet, Patricia; Foulds, Nichola; Dixit, Abhijit; Fisher, Richard; Armstrong, Ruth; Isidor, Bertrand; Cogne, Benjamin; Schrier Vergano, Samantha; Demirdas, Serwet; Dykzeul, Natalie; Cohen, Julie S; Grand, Katheryn; Morel, Dayna; Slavotinek, Anne; Albassam, Hessa F; Naik, Swati; Dean, John; Ragge, Nicola; Cinzia, Costa; Tedesco, Maria Giovanna; Harrison, Rachel E; Bouman, Arjan; Palen, Emily; Challman, Thomas D; Willemsen, Marjolein H; Vogt, Julie; Cunniff, Christopher; Bergstrom, Katherine; Walia, Jagdeep S; Bruel, Ange-Line; Kini, Usha; Alkuraya, Fowzan S; Slegesky, Valerie; Meeks, Naomi; Girotto, Paula; Johnson, Diana; Newbury-Ecob, Ruth; Ockeloen, Charlotte W; Prontera, Paolo; Lynch, Sally Ann; Li, Dong; Graham, John M; Balasubramanian, Meena
The study aimed at widening the clinical and genetic spectrum of ASXL3-related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. In this international collaborative study, we have undertaken a detailed clinical and molecular analysis of 45 previously unpublished individuals with ASXL3-related syndrome, as well as a review of all previously published individuals. We have reviewed the rather limited functional characterization of pathogenic variants in ASXL3 and discuss current understanding of the consequences of the different ASXL3 variants. In this comprehensive analysis of ASXL3-related syndrome, we define its natural history and clinical evolution occurring with age. We report familial ASXL3 pathogenic variants, characterize the phenotype in mildly affected individuals and discuss nonpenetrance. We also discuss the role of missense variants in ASXL3. We delineate a variable but consistent phenotype. The most characteristic features are neurodevelopmental delay with consistently limited speech, significant neuro-behavioral issues, hypotonia, and feeding difficulties. Distinctive features include downslanting palpebral fissures, hypertelorism, tubular nose with a prominent nasal bridge, and low-hanging columella. The presented data will inform clinical management of individuals with ASXL3-related syndrome and improve interpretation of new ASXL3 sequence variants.
PMID: 34436830
ISSN: 1552-4833
CID: 5011592

Obesity in patients younger than 60 years is a risk factor for Covid-19 hospital admission

Lighter, Jennifer; Phillips, Michael; Hochman, Sarah; Sterling, Stephanie; Johnson, Diane; Francois, Fritz; Stachel, Anna
PMID: 32271368
ISSN: 1537-6591
CID: 4373122

Comparison of Forced-Air and Warm Circulating-Water Warming for Prevention of Hypothermia and Blood Product Utilization During Open Cardiac Surgery [Letter]

Gosling, A F; Rohrer, B; Penick, E; Zimmermann, A; Johnson, D; Naseem, T; Ianchulev, S; Cobey, F C
ISSN: 1053-0770
CID: 4074192

A Rare Case of HHV-8 Associated Hemophagocytic Lymphohistiocytosis in a Stable HIV Patient [Case Report]

Osakwe, Nonso; Johnson, Diane; Klein, Natalie; Azim, Dalia Abdel
Background/UNASSIGNED:Hemophagocytic lymphohistiocytosis (HLH) is a rare condition associated with viral infections including HIV. Cases have been reported mainly in advanced HIV/AIDS. This is a rare case that reports HLH associated with human herpes virus-8 (HHV-8) associated multicentric Castleman disease in a stable HIV patient. Case Presentation/UNASSIGNED:A 70-year-old Asian male patient with history of stable HIV on medications with CD 4 cell count above 200 presented with cough and fever and was initially treated for pneumonia as an outpatient. Persisting symptoms prompted presentation to the hospital. The patient was found to have anemia which persisted despite repeated transfusion of packed red cells. A bone marrow biopsy to investigate anemia revealed hemophagocytosis. A CT scan revealed multiple enlarged lymph nodes and hepatosplenomegaly. An excisional lymph node biopsy revealed HHV-8 associated multicentric Castleman disease. The patient deteriorated despite initiation of treatment. Conclusion/UNASSIGNED:HLH can occur at any stage of HIV, rapid diagnosis to identify possible underlying reactive infectious etiology and prompt initiation of treatment is crucial to survival.
PMID: 31183227
ISSN: 2090-6625
CID: 3967592

Genome-wide association study of immunoglobulin light chain amyloidosis in three patient cohorts: comparison with myeloma

da Silva Filho, M I; Försti, A; Weinhold, N; Meziane, I; Campo, C; Huhn, S; Nickel, J; Hoffmann, P; Nöthen, M M; Jöckel, K-H; Landi, S; Mitchell, J S; Johnson, D; Morgan, G J; Houlston, R; Goldschmidt, H; Jauch, A; Milani, P; Merlini, G; Rowcieno, D; Hawkins, P; Hegenbart, U; Palladini, G; Wechalekar, A; Schönland, S O; Hemminki, K
Immunoglobulin light chain (AL) amyloidosis is characterized by tissue deposition of amyloid fibers derived from immunoglobulin light chain. AL amyloidosis and multiple myeloma (MM) originate from monoclonal gammopathy of undetermined significance. We wanted to characterize germline susceptibility to AL amyloidosis using a genome-wide association study (GWAS) on 1229 AL amyloidosis patients from Germany, UK and Italy, and 7526 healthy local controls. For comparison with MM, recent GWAS data on 3790 cases were used. For AL amyloidosis, single nucleotide polymorphisms (SNPs) at 10 loci showed evidence of an association at P<10-5 with homogeneity of results from the 3 sample sets; some of these were previously documented to influence MM risk, including the SNP at the IRF4 binding site. In AL amyloidosis, rs9344 at the splice site of cyclin D1, promoting translocation (11;14), reached the highest significance, P=7.80 × 10-11; the SNP was only marginally significant in MM. SNP rs79419269 close to gene SMARCD3 involved in chromatin remodeling was also significant (P=5.2 × 10-8). These data provide evidence for common genetic susceptibility to AL amyloidosis and MM. Cyclin D1 is a more prominent driver in AL amyloidosis than in MM, but the links to aggregation of light chains need to be demonstrated.
PMID: 28025584
ISSN: 1476-5551
CID: 3695322

Fever of unknown origin (FUO) due to systemic lupus erythematosus (SLE) presenting as pericarditis [Case Report]

Petelin, Andrew; Johnson, Diane H; Cunha, Burke A
Fevers of unknown origin (FUOs) are classified according to the underlying disorder. The 4 main clinical categories of FUOs are infectious, malignant, rheumatic/inflammatory, and miscellaneous disorders. Although malignancy remains the most common cause of FUOs, rheumatic/inflammatory disorders remain important diagnostically and therapeutically. Rheumatic/inflammatory disorders, for example, systemic lupus erythematosus (SLE) presenting as FUO, have become uncommon in recent years because of better serologic diagnostic tests. However, SLE remains a rare but important cause of FUO in adults. SLE may be a difficult FUO diagnosis when a patient presents with fever without joint manifestations as the only symptoms of SLE. During the workup of the patient described in this article, the other causes of pericarditis were ruled out and SLE pericarditis was diagnosed. This is a rare case of an adult FUO with pericarditis as the only manifestation of SLE.
PMID: 22980227
ISSN: 1527-3288
CID: 3433192

Fatal case of pneumonia associated with pandemic (H1N1) 2009 in HIV-positive patient [Letter]

Klein, Natalie C; Chak, Azfar; Chengot, Marilyn; Johnson, Diane H; Cunha, Burke A
PMID: 20031065
ISSN: 1080-6059
CID: 3432412

Atypical dengue fever mimicking typhoid fever in a college student traveler [Letter]

Cunha, Burke A; Johnson, Diane; McDermott, Brian
PMID: 19332213
ISSN: 1555-7162
CID: 3436072

West Nile encephalitis relapse presenting with abducens and facial nerve palsies [Letter]

Cunha, Burke A; Eisenstein, Lawrence E; Wirkowski, Elzbieta; Klein, Natalie H; Johnson, Diane H
PMID: 16750946
ISSN: 1555-7162
CID: 3435462

Fever of unknown origin: subacute thyroiditis versus typhoid fever [Case Report]

Cunha, Burke A; Thermidor, Marjorie; Mohan, Sowjanya; Valsamis, Ageliki S; Johnson, Diane H
Fever of unknown origin (FUO) is not infrequently a diagnostic dilemma for clinicians. Common infectious causes include endocarditis and abscesses in adults, and noninfectious causes include neoplasms and certain collagen vascular diseases, for example, polymyalgia rheumatica, various vasculitides, and juvenile rheumatoid arthritis (adult Still's disease). Subacute thyroiditis is a rare cause of FUO. Among the infectious causes of FUO, typhoid fever is relatively uncommon. We present a case of FUO in a traveler returning from India whose initial complaints were that of left-sided neck pain and angle of the jaw pain, which initially suggested the diagnosis of subacute thyroiditis. After an extensive FUO workup, when typhoid fever is a likely diagnostic possibility, an empiric trial of anti- Salmonella therapy has diagnostic and therapeutic significance. The presence of relative bradycardia, and response to quinolone therapy, was the basis of the clinical diagnosis of typhoid fever as the explanation for this patients FUO. This case illustrates the diagnostic difficulties in assessing patients with FUO with few diagnostic findings.
PMID: 15761461
ISSN: 0147-9563
CID: 3435232