BackgroundFamilial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease characterised with fever, recurrent episodes of self-limiting polyserositis and arthritis. FMF arthritis is generally acute monoarthritis especially in the larger joints of the lower extremities, healing without a sequelae. However some of the patients develop different type of chronic arthritis, predominantly oligoarticular juvenile idiopathic arthritis (JIA) and juvenile pondyloarthropathies (JSpA). Studies on JSpA among childhood FMF patients are spare.ObjectivesTo evaluate frequency of JSpA in a large childhood FMF cohort. Furthermore, we aimed to define main characteristics of JSpA among childhood FMF patients.MethodsA total of 320 juvenile FMF patients were blindly questioned according to recently proposed criteria for JSpA by 3 researchers (EO, DS, ET) that were previously educated for FMF and JSpA. A standardised case report form was prepared and completed for each patient. This form was including demographic data, clinical features, MEFV mutation and treatment. Patients fulfilled the JSpA criteria and were classified as probable JSpA. Afterwards, an expert in paediatric rheumatology (OK) reevaluated the classified patients and some of them were confirmed to be a definite while some of them were accepted as potential JSpA patients.ResultsAs a result, 37 patients (11.5%) were initially classified as potential JSpA. Furthermore, 32 (10%) of them were accepted as definite and 5 (1.5%) patients as probable JSpA in childhood FMF. Demographic, clinical and treatment data of definitive JSPA patients are shown in Table I. The most frequent MEFV mutation among JSPA patients was M694V (63.33%).Table I. Demographic, clinical and genetic features of childhood FMF patients.FMF +Definite JSPAFMF +Probable JSPAFMF patients without JIA and JSpAFMF+JIA (except ERA or JSpA) Patients, n32526815Female, n (%)10 (31.25%)1 (20%)148 (55.22%)10 (66.66%)Age of disease onset, mean±SD years7.19±3.685.60±4.934.91±3.404.93±3.32Age at study, mean±SD years14.84±3.7013.40±1.6712.51±4.4310.73±3.57Family History of FMF, n (%)15 (46.87%)1 (20%)132 (49.25%)6 (40%)Colchicine resistance in FMF patients, n(%)2 (6.25%)014 (5.22%)1 (6.66%)M694V mutation n(%)Homozygote, n(%)Heterozygote, n(%)Compound heterozygote, n(%)NA, n(%)19/30 (63.33%)7 (36.84%)5 (26.31%)7 (36.84%)2 (6.25%)3 (60%)2 (66.66%)1 (33.33%)00148/245 (60.40%)51 (34.45%)54 (36.48%)43 (29.05%)23 (8.58%)11 (73.33%)8 (72.72%)2 (18.18%)1 (9.09%)0Disease onset over 6 years,n (%) years26 (81.25%)5 (100%)6 (40%)Oligorthritis, n(%)21 (65.62%)1 (20%)14 (93.33%)Inflammatory back pain, n(%)17/32 (53.12%)3/5 (60%)0Enthesopathy22/32 (68.75%)3/5 (60%)0Sacroiliitis14/21 (66.66%)0/1 (0)0/5 (0)ConclusionsArticular involvement compatible with JSpA could be seen in childhood FMF patients. Spondyloarthropathy was detected in 10% of childhood FMF cases. The M694V mutation is the most common MEFV mutation among JSpA patients with FMF. JSpA should be considered in childhood FMF patients, especially in those chr...

Background: Cystic fibrosis (CF) transmembrane conductance receptor (CFTR)-related disease is diagnosed in patients affected by CFTR dysfunction who do not fully meet the CF diagnostic criteria. Only 2% of all CF patients have CFTR-related disease. We define the demographic characteristics of such patients, described the performance of mutational analyses, and describe the clinical findings. Methods: Twenty-four patients were followed-up for CFTR-related disease. Patients with CF symptoms but who did not completely fulfil the CF diagnostic criteria were enrolled. Age, body mass index at the times of diagnosis and admission, symptoms, pulmonary function and fecal elastase test results, gene analyses, and clinical findings during follow-up were evaluated. Results: Ten patients (42%) were female and 14 (58%) male. Their mean age was 15.3 years (minimum-maximum 6-20 years). The mean age at diagnosis was 8.5 years (minimum-maximum 3-14 years) and the most common presenting complaint was a cough (n = 19). During follow up, chronic sinusitis developed in 15 patients, bronchiectasis in 13, nasal polyposis in six, failure to thrive in three, recurrent pancreatitis in two, asthma in one, and congenital bilateral absence of the vas deferens in one. Fecal elastase levels were low in only one of the three patients who failed to thrive. In terms of CFTR gene mutations, two were found in 10 patients, one in eight patients, and none in six. Conclusions: Cystic fibrosis transmembrane conductance receptor-related disease presents with various clinical findings. Serious symptoms may develop later in life. Late diagnosis significantly compromises the quality and duration of life in such patients.

Objective: This study aimed to evaluate the necessity of cord arterial blood gas analysis in cases without fetal distress and normal Apgar score. Materials and Methods: The cord arterial blood gas analysis and the 1- and 5-minute Apgar scores data of 1438 cases were evaluated. Newborns with fetal distress, neonates requiring cardiopulmonary resuscitation in the delivery room, congenital anomalies, severe and moderate acidemia (pH ≤7.1 at cord arterial blood gas analysis), and pre- and post-term newborns are excluded. Following cord arterial blood gas analysis, threshold values were accepted as abnormal pH <7.2, base excess ≥ −6 mmol/L, lactate ≥ 5 mmol/L, bicarbonate < 18 mmol/L, and partial pressure of carbon dioxide ≥ 50 mmHg. We evaluated the correlation between cord arterial blood gas analysis and 1- and 5-minute Apgar scores. Results: There was a significant correlation between both 1- and 5-minute Apgar scores and cord arterial blood gas analysis values such as pH, lactate, and partial pressure of carbon dioxide ( P < .001). In addition, a significant correlation was found between the 5-minute Apgar score of <7 and some cord arterial blood gas analysis abnormal threshold values (pH, bicarbonate, base excess) ( P < .001). We found that some patients with mild acidemia had 1- and 5-minute Apgar scores of ≥7 in 1.9% and 2% of cases, respectively. Conclusion: The 5-minute Apgar score of 7 or higher may not be sufficient to verify the well-being of a newborn. Relying only on the Apgar scores may create the risk of missing some newborns with mild metabolic acidosis. The necessity of routine cord arterial blood gas analysis should be considered in prospective studies even if there are no signs of fetal distress and Apgar score ≥7.