Familial Mediterranean fever and growth: effect of disease severity and colchicine treatment

OBJECTIVE: To evaluate the effect of disease severity and colchicine treatment on height and weight parameters in children with familial Mediterranean fever (FMF). METHODS: Thirty prepubertal children (19 M, 11 F) were studied retrospectively. Z-score values of height, growth velocity, weight and body mass index were obtained over 1.84 +/- 1.14 years before and 2.58 +/- 1.55 years during colchicine therapy. Disease severity was evaluated by a specific score for FMF. RESULTS: By comparison to growth before treatment, during colchicine therapy height SDS increased from -1.00 +/- 1.17 to -0.54 +/- 0.96 (p < 0.001) and weight SDS increased from -0.74 +/- 1.09 to -0.47 +/- 1.06 (p = 0.008). An effect of disease severity on growth pattern could not be detected. Height SDS during therapy was negatively correlated with age at colchicine initiation. CONCLUSIONS: Colchicine therapy has a positive effect on both height and weight parameters in children with FMF. Early initiation of treatment is beneficial for height gain.     

Familial mediterranean fever: revisiting an ancient disease

Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterised by periodic attacks of fever and serositis. Recent genetic and epidemiological research have highlighted the importance of this disease. FMF is the most frequent periodic fever syndrome and is transmitted in an autosomal recessive fashion. The disease is caused by mutations in the gene on the short arm of chromosome 16, coding for the protein "pyrin". Pyrin is mainly expressed in neutrophils and monocytes and is among the proteins involved in the interleukin-1 inflammatory pathway. The recurrent attacks of fever are accompanied by severe abdominal pain, arthritis and/or chest pain along with a marked increase in acute phase reactants. Among these, serum amyloid A protein is especially important since it is the precursor of the amyloid A fibrils deposited in secondary renal amyloidosis. Renal amyloidosis has a grave prognosis. Differential diagnosis from other periodic fever syndromes is especially important in western European countries. Among these hyper IgD syndrome is common in Netherlands and the tumour necrosis factor receptor-associated periodic syndrome is especially common among Scottish and Irish families. Mutation analysis of the gene may be helpful in diagnosing FMF; however, if this is not possible, a trial of colchicine is a helpful diagnostic tool. The indications for life-long colchicine treatment should be discussed with the family. CONCLUSION: Familial mediterranean fever and other auto-inflammatory syndromes should be suspected in children with recurrent febrile attacks. Early diagnosis will save the child from unnecessary work-up and kidney involvement.     

Projective drawings as an aid to music therapy.

Music therapy is becoming an increasingly prevalent method for assisting in the mental health needs of a variety of different conditions. However, other tangential aids can greatly facilitate the music therapy process. The use of Projectives techniques to assist in the process of music therapy and to assess the growth and development of clients is described.     

Late haemorrhagic disease of the newborn

BACKGROUND: Late haemorrhagic disease of the newborn (HDN) can occur owing to a lack of vitamin K prophylaxis, as a manifestation of an underlying disorder or idiopatically from the 8th day to 12 weeks after birth. METHODS: Eight infants admitted to Kocaeli University Hospital with nine episodes of late HDN between January 2002 and April 2005 were evaluated retrospectively from hospital records. RESULTS: The median age at presentation was 46 (26-111) days. All the infants were born at full-term to healthy mothers and were exclusively breast-fed. All had an uneventful perinatal history, except one who had meconium aspiration. Four patients had received no vitamin K prophylaxis and another three had uncertain histories. At presentation, six had intracranial bleeding and the remainder had bleeding either from the venepuncture site or the gastro-intestinal tract. The presenting signs and symptoms were irritability, vomiting, bulging or full fontanelle, convulsions and diminished or absent neonatal reflexes. Galactosaemia was detected in a 2-month-old infant with prolonged jaundice. There was no surgery-related mortality or complications but one survived for only 2 days on ventilatory support following surgery. Only one of the six survivors had severe neurological sequelae. CONCLUSIONS: Late HDN frequently presents with intracranial haemorrhage, leading to high morbidity and mortality. HDN can be the manifestation of an underlying metabolic disorder. Vitamin K prophylaxis of the newborn should be routine in developing countries.     

The value of referral status as a solitary indicator to predict severity of illness in children

Tijdschrift voor Kindergeneeskunde -     

Naproxen as an alternative to aspirin for the treatment of arthritis of rheumatic fever: a randomized trial

We performed a prospective, randomized, open-label equivalence study comparing the use of naproxen to aspirin in 33 patients with rheumatic fever. The mean time until resolution of arthritis was 2.9+/-2.9 days in both groups. Liver enzyme elevations were more frequent in the aspirin group (P=.002). We conclude that naproxen is as effective, is easier to use, and is safer than aspirin in the treatment of the arthritis of rheumatic fever.     

腹部超声在新生儿坏死性小肠结肠炎诊断及病情评估中的价值

目的 探讨腹部超声检查对新生儿坏死性小肠结肠炎(NEC)的诊断价值及其在NEC病情评估中的意义。方法 回顾性分析2013年7月至2015年1月84例NEC患儿的临床资料。根据修正Bell-NEC分级诊断标准分为NEC疑似组(n=44)、确诊组(n=40);另根据临床转归分为内科治愈组(n=58)和手术/死亡组(n=26),比较腹部超声及腹部X线平片检查结果在各组中的改变。结果 在确诊组,腹部超声对门静脉积气、肠管扩张的检出率显著高于腹部平片(PPP结论 腹部超声在NEC的诊断中有重要作用;超声表现对预测疾病的严重程度有预测作用。