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Seminars in Arthritis and Rheumatism Jun 2021Diagnosis of childhood polyarteritis nodosa (PAN) has become challenging after the definition of deficiency of adenosine deaminase 2 (DADA2). We aimed to define the...
BACKGROUND
Diagnosis of childhood polyarteritis nodosa (PAN) has become challenging after the definition of deficiency of adenosine deaminase 2 (DADA2). We aimed to define the differential features of pediatric PAN and DADA2 patients in our center and in the literature.
METHODS
The charts of pediatric PAN and DADA2 patients followed at the Pediatric Rheumatology Unit of Hacettepe University between 2010-2020 were analyzed. A systematic literature review was conducted for articles regarding pediatric PAN or DADA2.
RESULTS
Thirty-four pediatric PAN and 18 pediatric DADA2 patients were included. The age at onset was younger, parental consanguinity, livedo reticularis, neurologic involvement (especially strokes), lymphopenia, and hypogammaglobulinemia were more frequent, while thrombocytosis and panniculitis were less frequent in DADA2 patients. The primary treatment was anti-tumor necrosis factor (anti-TNF) in DADA2. For induction treatment, all systemic PAN patients received corticosteroids, and cyclophosphamide (n=11) or mycophenolate mofetil (MMF) (n = 3). Cyclophosphamide was replaced with MMF in nine once remission was confirmed with PVAS. In the literature, 28 articles describing 613 pediatric PAN patients and 26 articles describing 207 pediatric DADA2 patients were identified. Neurologic, gastrointestinal, and cardiac involvements were more frequent in DADA2, while constitutional symptoms and testis involvement were more common in PAN.
CONCLUSION
In a child with PAN-like phenotype, DADA2 should be considered in the presence of young age at disease onset, parental consanguinity, strokes, lymphopenia, and lack of thrombocytosis during active disease. Anti-TNF treatment is indicated for vasculitic DADA2. Cyclophosphamide could be switched to MMF when remission is confirmed with PVAS in severe PAN.
Topics: Adenosine Deaminase; Agammaglobulinemia; Child; Humans; Intercellular Signaling Peptides and Proteins; Male; Polyarteritis Nodosa; Tumor Necrosis Factor Inhibitors
PubMed: 33901990
DOI: 10.1016/j.semarthrit.2021.04.009 -
Cancers Oct 2020Cutaneous T-cell lymphomas (CTCL) are a heterogenous group of rare diseases. Many studies have reported on local epidemiology or geographic clustering, however we lack...
Cutaneous T-cell lymphomas (CTCL) are a heterogenous group of rare diseases. Many studies have reported on local epidemiology or geographic clustering, however we lack information from a global perspective. A systematic review and meta-analysis was conducted in Medline and the Cochrane Library based on a previously registered protocol and according to the preferred reporting of items for systematic reviews and meta-analyses (PRISMA). We selected publications that enrolled at least 100 patients with primary cutaneous lymphomas according to the current classifications. The relative frequencies (proportions) of subtypes were compared between studies and geographic regions in a meta-analysis. In total, 26 studies met our inclusion criteria, reporting on altogether 16,953 patients. Within primary cutaneous lymphomas, CTCL appeared to be 15% more frequent in Asian populations. Mycosis fungoides (MF) accounted for 62% of CTCL, with an important heterogeneity in frequencies between studies and continents. The proportion of Sézary syndrome (SS) was 3%, stable worldwide. Rare CTCL, such as NK/T-cell lymphoma or subcutaneous panniculitis-like lymphoma, were more frequent in Asian studies. This global meta-analysis of CTCL confirmed the predominance of CTCL among primary cutaneous lymphomas (83% on average) in the three analyzed continents, most of which were MF cases. It revealed the same proportions of SS across continents, and the heterogeneity of MF frequencies, suggesting the possible role of environmental factors in the pathophysiology of the latter. Registration number: CRD42020148295 (PROSPERO).
PubMed: 33050643
DOI: 10.3390/cancers12102921 -
Clinical Journal of Gastroenterology Apr 2017Sclerosing mesenteritis includes a spectrum of inflammatory disorders involving the adipose tissue of the bowel mesentery. (Review)
Review
INTRODUCTION
Sclerosing mesenteritis includes a spectrum of inflammatory disorders involving the adipose tissue of the bowel mesentery.
AIM
To perform a systematic review of previously reported cases of sclerosing mesenteritis (SM) to determine the epidemiology, risk factors, methods of diagnosis, treatment patterns and outcomes for this disease.
METHODS
Medline, PubMed, Google Scholar and Cochrane database were searched using keywords mesenteric panniculitis, retractile mesenteritis, mesenteric lipodystrophy and sclerosing mesenteritis. Data was collated into a single excel database, transferred into SPSS (Version 21.0) and analyzed.
RESULTS
Patients diagnosed with SM were between ages of 3 and 88 with a mean age of 55 ± 19.2 years. SM was more common in Caucasians (n = 28, 60.8% of those reporting ethnicity) and men (n = 133, 69.3%) with a male to female ratio of 2.3:1. 28.6% (n = 55) of patients reported a prior abdominal surgery or abdominal trauma, 8.9% (n = 17) had a history of malignancy, and 5.7% (n = 11) of autoimmune disease. 85.4% (n = 164) underwent surgical abdominal exploration (open or laparoscopic); 41.7% (n = 80) had surgery with resection of the involved bowel and mesentery. 34.9% (n = 67) of patients received medical treatment with the majority of them receiving steroids (n = 56, 83.5%). Symptom duration of more than a month (66.7% vs 40.4%, p < 0.05), underlying autoimmune disorder (14.3% vs 4.0%, p < 0.05) or low protein (14.3% vs 4.0%, p < 0.05) at presentation were seen more frequently in those with poor treatment response whereas patients with tender abdomen (45.0% vs 19.0%, p < 0.05) or leukocytosis (20.5% vs 0.0%, p < 0.05) at presentation were likely to have good response to therapy. The most common complications included bowel obstruction/ileus/ischemia (n = 10, 23.8%) and obstructive uropathy/renal failure (n = 10, 23.8%). There were a total of 14 deaths, 12 (85.7%) of which were secondary to SM related complications.
CONCLUSION
SM is a poorly understood chronic inflammatory disease. Our study is the first systematic review of the published cases of SM. Future work is required to better understand this disease and its optimal therapy.
Topics: Humans; Lipodystrophy; Mesentery; Panniculitis, Peritoneal; Prognosis; Terminology as Topic
PubMed: 28197781
DOI: 10.1007/s12328-017-0716-5 -
European Radiology Dec 2016Systematic review to determine any association between imaging features of idiopathic mesenteric panniculitis (MP) and subsequent malignancy. (Review)
Review
OBJECTIVES
Systematic review to determine any association between imaging features of idiopathic mesenteric panniculitis (MP) and subsequent malignancy.
METHODS
Two researchers searched primary literature independently for imaging studies of MP. They extracted data focusing on methodology for unbiased patient accrual and capability to determine a link between MP and subsequent malignancy. They noted imaging features of MP. Data were accrued and meta-analysis intended.
RESULTS
Fourteen of 675 articles were eligible; 1,226 patients. Only three (21 %) accrued patients prospectively. Twelve (86 %) studies described CT features. Follow-up varied widely; 1 month to 8 years. Prevalence of MP was influenced by accrual: 0.2 % for keyword search versus 1.7 % for consecutive series. Accrual bias affected nine (64 %) studies. 458 (38 %) of 1,209 patients had malignancy at accrual but varied widely (8-89 %), preventing meta-analysis. Sixty (6.4 %) of 933 patients developed new malignancy subsequently, also varying widely (0-11 %). Of just four studies that determined the proportion of unselected, consecutive patients with MP developing subsequent malignancy, three were retrospective and the fourth excluded patients with lymphadenopathy, likely excluding patients with MP.
CONCLUSION
Studies were heterogeneous, with biased accrual. No available study can determine an association between MP and subsequent malignancy with certainty.
KEY POINTS
• Our systematic review of mesenteric panniculitis found that imaging studies were biased. • Spectrum and recruitment bias was largely due to retrospective study designs. • No study could confirm a certain link between mesenteric panniculitis and subsequent malignancy. • Excessive methodological heterogeneity precluded meaningful meta-analysis. • High-quality research linking mesenteric panniculitis imaging features and subsequent malignancy is needed.
Topics: Bias; Humans; Panniculitis, Peritoneal; Peritoneal Neoplasms; Prevalence; Retrospective Studies; Risk; Tomography, X-Ray Computed
PubMed: 27048526
DOI: 10.1007/s00330-016-4298-2 -
Clinical Rheumatology Sep 2015MonoMAC syndrome is characterized by monocytopenia with susceptibility to nontuberculous mycobacterial infections. First recognized in 2011, it is caused by GATA2... (Review)
Review
MonoMAC syndrome is characterized by monocytopenia with susceptibility to nontuberculous mycobacterial infections. First recognized in 2011, it is caused by GATA2 mutations and can manifest as disseminated mycobacterial, fungal, and viral infections. While mortality rates for this disorder have been high, it has recently been successfully treated with haploidentical allogeneic stem cell transplant. Since approximately one third of patients may have rheumatologic symptoms, such as erythema nodosum, panniculitis, or arthralgias, rheumatologists may expect to encounter this newly described entity with increasing frequency.
Topics: Adult; Erythema Nodosum; Female; GATA2 Transcription Factor; Humans; Immunologic Deficiency Syndromes; Mutation; Panniculitis; Young Adult
PubMed: 25739845
DOI: 10.1007/s10067-015-2905-2