Frequency of functional gastrointestinal disorders in children with familial Mediterranean fever

Clinical Rheumatology - Familial Mediterranean fever (FMF) is characterized by self-limiting fever episodes usually accompanied by serositis, arthralgia, and arthritis. Functional gastrointestinal...     

Retinoic acid receptor-α signalling antagonizes both intracellular and extracellular amyloid-β production and prevents neuronal cell death caused by amyloid-β

Alzheimer's disease (AD) is characterized by amyloid-β (Aβ) deposition in the brain, neuronal cell loss and cognitive decline. We show here that retinoic acid receptor (RAR)α signalling in vitro can prevent both intracellular and extracellular Aβ accumulation. RARα signalling increases the expression of a disintegrin and metalloprotease 10, an α-secretase that processes the amyloid precursor protein into the non-amyloidic pathway, thus reducing Aβ production. We also show that RARα agonists are neuroprotective, as they prevent Aβ-induced neuronal cell death in cortical cultures. If RARα agonists are given to the Tg2576 mouse, the normal Aβ production in their brains is suppressed. In contrast, neither RARβ nor γ-agonists affect Aβ production or Aβ-mediated neuronal cell death. Therefore, RARα agonists have therapeutic potential for the treatment of AD.     

Correlation of femoral head coverage and Graf α angle in infants being screened for developmental dysplasia of the hip

Ultrasonography has become accepted as a useful imaging modality in the early detection of developmental dysplasia of the hip (DDH). The purpose of this study was to investigate the extent to which ultrasonographic measurements of femoral head coverage correspond to the categories of hip maturity defined by Graf’s angle α. The infants in this study (1,037 infants, 2,034 hips) were examined as part of an ultrasound screening program for detecting DDH. We found that femoral head coverage is positively correlated with α angle, and we also found upper and lower threshold values of femoral head coverage (51% and 39%), such that all hips having these values or beyond had mature or pathological development, respectively. For the detection of hips having mature development, this provided a specificity of 100% (by definition) and a sensitivity of 82.6%. For hips having pathological development, specificity was 100% and sensitivity was 79.2%.

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Résumé  L’échographie est une méthode permettant l’analyse et le dépistage des dysplasies de hanches (DDH). Le propos de cette étude est d’analyser la couverture de la tête fémorale, de déterminer si cette couverture permet de définir différentes catégories de maturité des hanches selon l’angle a de Graf. 1037 enfants (2034 hanches) ont été examinés par échographie dans un programme de dépistage de la luxation de hanche (DDH). Nous avons trouvé que la couverture de la tête fémorale était corrélée avec l’angle a de Graf. Nous avons pu déterminer des valeurs repères hautes et basses de couverture de la tête (51% et 39%), de telle sorte que les hanches qui sont soit dans ses valeurs soit en dehors de ces valeurs, ont un développement mature ou pathologique. La spécificité de ce dépistage est de 100% et la sensitivité de 82,6%. Pour les hanches pathologiques la spécificité est de 100% et la sensitivité de 79,2%.

     

Seckel syndrome associated with atrioventricular canal defect: a case report

Seckel syndrome is a rare autosomal recessive disorder and its characteristic features are marked growth and mental retardation, significant microcephaly and a convex nose. We report a boy with this syndrome who also had severe cardiac anomalies. Although his parents were non-consanguineous, it is suggested that he had autosomal recessive inheritance.     

An ignored cause of inflammation in patients undergoing continuous ambulatory peritoneal dialysis: periodontal problems

Aim

We aimed to assess whether there is a significant relation between periodontal health status and inflammation in uremic patients undergoing continuous ambulatory peritoneal dialysis (CAPD) and also to reveal the efficiency of periodontal treatment in patients with various degrees of periodontal problems.

Patients and methods

Overall, 68 patients undergoing CAPD were included in the study. Clinical indices and measurements were obtained at baseline and panoramic radiographies were used for the diagnosis. According to the baseline values, patients were stratified into four groups according to the severity of periodontal problems as follows: healthy/gingivitis, slight-to-moderate, and severe periodontitis. A control examination was performed 3 months after the periodontal treatment for only 43 patients. Clinical and laboratory parameters before and after treatment were compared.

Results

The frequency of periodontal disease was found to be high in uremic patients on CAPD. The frequency and severity of periodontitis was also found to be significantly (p < 0.01) higher in patients with high sensitive C-reactive protein levels and longer duration of peritoneal dialysis (p < 0.01). In addition, the periodontitis rate was found to be higher in patients with cardiovascular disease (p < 0.05) and diabetes mellitus (p < 0.01).

Conclusion

A meticulous periodontal examination should be a routine part of management of the uremic patients on CAPD because periodontal disease could be one of the hidden sources of unexplained inflammatory status.     

MEFV gene variants in children with Henoch-Schönlein purpura and association with clinical manifestations: a single-center Mediterranean experience

Objectives: Henoch-Schönlein purpura (HSP) is characterized by non-thrombocytopenic palpable purpura, abdominal pain, and arthralgia/arthritis. We aimed to describe the clinical presentations of children with HSP in a single center and compare the prevalence of each manifestations between patients with MEFV variants, particularly in exon 10 and those without.

Methods: This cohort retrospectively included 144 HSP (59 females, 85 males) patients without Familial Mediterranean Fever (FMF) symptoms and followed for at least 6 months. We utilized the MEFV gene sequencing by using next-generation sequencing platform (MiSeq System, Illumina).

Results: At least one MEFV variant was detected in 73 (50.7%) of 144 HSP patients and 5 (3.5%) patients were homozygote for M694V mutation. Although severe gastrointestinal involvement and nephritis rates were similar, we found that serum IgA, leukocyte, and platelet count at diagnosis were higher and hemoglobin was lower in HSP patients with MEFV gene variants in exon 10 than those without. Additionally, HSP patients with MEFV variants in exon 10 more often present with abdominal pain and intussusception.

Conclusion: MEFV variants in exon 10 may affect clinical presentation of HSP in populations where FMF is common. While HSP may be an initial symptom of FMF, we speculate that physicians should be aware of FMF possibility in children with intussusception and lower hemoglobin, higher serum IgA, leukocyte, and platelet count.     

Juvenile systemic lupus erythematosus: a single-center experience from southern Turkey

Clinical Rheumatology - This study was conducted to analyze clinical characteristics, laboratory data, disease activity, and outcome of juvenile systemic lupus erythematosus (jSLE) patients from...