182 research outputs found
Erratum: Clinical characteristics of patients carrying the Q703K variant of the NLRP3 gene: A 10-year multicentric national study (Journal of Rheumatology (2016) 43 (1093-100) DOI: 10.3899/jrheum.150962)
No full textThe correct last name of the coauthor R. Gallizi is Romina Gallizzi
A novel compound heterozygous TACI mutation in an autosomal recessive common variable immunodeficiency (CVID) family.
No full textCommon variable immunodeficiency (CVID) is a primary immune disorder characterized by low immunoglobulin serum levels and increased susceptibility to infections. Underlying genetic causes are only known in less than 15% of patients and encompass mutations in the genes encoding for ICOS, TACI, BAFF-R, CD19, CD20, CD81 and MSH5. TACI is the most frequently mutated gene among CVID patients. We report on two pediatric Italian male siblings with hypogammaglobulinemia and recurrent respiratory and gastrointestinal infections in association with a novel compound heterozygous TACI mutation. Both patients carry the I87N/C104R mutation that has not been reported yet. This results in aberrant TACI expression and abrogates APRIL binding on EBV B cells. This study identifies a novel combined mutation in TNFRSF13B increasing the spectrum of TACI mutations associated with CVID
Extracapillary glomerulonephritis during Etanercept treatment for psoriatic arthritis
No full textABSTRACT:Juvenile psoriatic arthritis was diagnosed in a girl of 15 and a half years old, who presented with severe poly-arthritis and psoriasis. Treatment with etanercept 25mg by subcutaneous injections, twice a week was started. After 5 months of treatment, she developed microscopic hematuria, proteinuria and progressive acute renal failure with anaemia and hypertension. Renal histology, IF, and EM findings were consistent with severe extracapillary crescentic pauciimmune glomerulonephritis. The histology findings, the onset of renal symptoms after beginning treatment with etanercept, and the absence of any abnormality in the urine tests before administration of the drug, support the hypothesis of a rare case of secondary nephropathy due to treatment with an anti-TNF-α dru
Pediatric Hashimoto’s encephalopathy with peripheral nervous system involvement
No full textHashimoto encephalopathy is a syndrome of encephalopathy associated with elevated concentration of circulating serum anti-thyroid antibodies usually responsive to steroid therapy. We report a 13-year-old girl with Hashimoto encephalopathy and peripheral nervous system involvement. The child had experienced high-grade pyrexia, global headache and sleeplessness. After admission she had an ileus with a distended urinary bladder, hallucinations and cognitive impairment. She had reduced deep tendon reflexes and distal sensory deficiency. Anti-thyroglobulin antibodies were raised at 2121 IU/mL (normal, 0-40) and the anti-thyroperoxidase was high at 886 IU/mL (normal, 0-50). Progressive neurological and psychiatric remission was noted after i.v. methylprednisolone. Follow-up magnetic resonance imaging showed complete resolution of the foci of signal abnormality previously yielded. This case report is the first, to the best of our knowledge, to describe peripheral nervous system involvement in a child with a diagnosis of Hashimoto's encephalopathy. © 2014 The Authors. Pediatrics International © 2014 Japan Pediatric Society
La Cooperazione nel settore lattiero-caseario: indagine sui caseifici sociali della Sardegna
No full textNel presente lavoro si compie un'analisi dettagliata del sistema cooperativo nel settore lattiero-caseario in Sardegna. In realtà si fa riferimento al solo comparto del latte ovino, che è gran parte dell'intero settore lattiero-caseario regionale e di quello del latte ovino nazionale, ed ha in Sardegna peculiari caratteristiche economiche e sociali. Anche in considerazione dei consistenti trasferimenti pubblici alle cooperative, perciò, assieme all'analisi tecnico-economica del sistema cooperativo, si compie un esame del ruolo da esso svolto nel settore pastorale e dei risultati cui ha dato luogo
Intra- and Juxta-Articular Osteoid Osteoma Mimicking Arthritis: Case Series and Literature Review
No full textBackground: Intra- and juxta-articular osteoid osteomas are rare, representing less than 10% of all osteomas. Compared to the classic diaphyseal or metaphyseal site of long bones, they often have an atypical onset, a longest diagnostic delay, and frequent initial misdiagnoses, with pictures that can mimic inflammatory monoarthritis. We aimed to describe a case series, and to provide a literature review of this uncommon and misleading tumor location. Methods: We performed a retrospective analysis of patients referred to three pediatric rheumatology centers, with a final diagnosis of articular osteoid osteoma. A review of the literature was additionally conducted. Results: We included 10 patients with a mean age of 14 years. All patients with unusual sites (olecranon fossa, lumbar vertebra, distal phalanx of the toe, fibula) had a misdiagnosis, and cases with initial suspicion of monoarthritis had the longest diagnostic delay, up to 24 months. The literature review confirms the significant risk of misdiagnosis, and an average time from symptom onset to diagnosis ranging from 0.4 to 1.8 years. Conclusions: Articular osteoid osteoma may mimic arthritis, especially in adolescence. Knowledge of the atypical forms of presentation, and of the clinical and radiological pitfalls, reduces the risk of diagnostic error
Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease
No full textFabry disease (FD) is an underdiagnosed pathology due to its symptomatology that
overlaps with various systemic and rheumatic disorders, including familial
Mediterranean fever (FMF). We examined the Mediterranean fever (MEFV) and
α-galactosidase A (GLA) genes, whose mutations are responsible for FMF and FD,
respectively, in 42 unrelated patients diagnosed with FMF, which revealed
significant ambiguity regarding some of the symptoms which are also present in
FD. The objective of this study was to determine the spectrum of mutations
present in these genes, in order to identify cases of mistaken diagnosis of FMF
and/or missed diagnosis of FD. Ten out of 42 patients had one mutation in
homozygosis or two different mutations in heterozygosis in the MEFV gene; 20/42
had a single heterozygous mutation, and 12/42 did not have genetic alterations in
MEFV. The analysis of the GLA gene conducted on all the samples revealed that
three subjects, and some members of their families, had two different exonic
mutations associated with FD. Family studies allowed us to identify eight other
cases of FD, bringing the total undiagnosed subjects to 11/53. Analyzing the MEFV
and GLA genes in patients with clinical diagnoses of FMF proved to be
fundamentally important for the reduction of diagnostic errors
Due nuove specie del genere <i>Genista</i> L. nel Mediterraneo
No full textThe author describes two new species of Genista recorded in some areas of central Mediterranean basin
Due nuove specie del genereGenistaL. nel Mediterraneo
No full textThe author describes two new species ofGenistarecorded in some areas of central Mediterranean basin
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