Safety and efficacy of infliximab and adalimumab for refractory uveitis in juvenile idiopathic arthritis : 1-year followup data from the Italian Registry

To evaluate safety and efficacy of adalimumab (ADA) and infliximab (IFX) for the treatment of juvenile idiopathic arthritis-related anterior uveitis (JIA-AU).Starting January 2007, patients with JIA-AU treated with IFX and ADA were managed by a standard protocol and data were entered into the National Italian Registry (NIR). At baseline, all patients were refractory to standard immunosuppressive treatment and/or were corticosteroid-dependent. Data recorded every 3 months included uveitis course, number/type of ocular complications, drug-related adverse events (AE), treatment change or withdrawal, and laboratory measures. Data of patients treated for at least 1 year were retrieved from the NIR and analyzed using descriptive statistics. Treatment efficacy was based on change in uveitis course and in number of ocular complications.Up to December 2009, data for 108 patients with JIA-AU treated with anti-tumor necrosis factor-\u3b1 agents were recorded in the NIR and data from 91, with at least 12 months' followup, were included in the study. Forty-eight patients were treated with IFX, 43 with ADA. Forty-seven patients (55.3%) achieved remission of AU, 28 (32.9%) had recurrent AU, and 10 (11.8%) maintained a chronic course. A higher remission rate was observed with ADA (67.4% vs 42.8% with IFX; p = 0.025). Ocular complications decreased from 0.47 to 0.32 per subject. Five patients experienced resolution of structural complications. No patient reported serious AE; 8 (8.8%) experienced 11 minor AE (9 with IFX, 2 with ADA).IFX and ADA appear to be effective and safe for treatment of refractory JIA-related uveitis, with a better performance of ADA in the medium-term period

Solitary median maxillary central incisor (SMMCI) syndrome

Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline defects of development resulting from unknown factor(s) operating in utero about the 35th–38th day(s) from conception. It is estimated to occur in 1:50,000 live births. Aetiology is uncertain. Missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI. The SMMCI tooth differs from the normal central incisor, in that the crown form is symmetric; it develops and erupts precisely in the midline of the maxillary dental arch in both primary and permanent dentitions. Congenital nasal malformation (choanal atresia, midnasal stenosis or congenital pyriform aperture stenosis) is positively associated with SMMCI. The presence of an SMMCI tooth can predict associated anomalies and in particular the serious anomaly holoprosencephaly. Common congenital anomalies associated with SMMCI are: severe to mild intellectual disability, congenital heart disease, cleft lip and/or palate and less frequently, microcephaly, hypopituitarism, hypotelorism, convergent strabismus, oesophageal and duodenal atresia, cervical hemivertebrae, cervical dermoid, hypothyroidism, scoliosis, absent kidney, micropenis and ambiguous genitalia. Short stature is present in half the children. Diagnosis should be made by eight months of age, but can be made at birth and even prenatally at 18–22 weeks from the routine mid-trimester ultrasound scan. Management depends upon the individual anomalies present. Choanal stenosis requires emergency surgical treatment. Short stature may require growth hormone therapy. SMMCI tooth itself is mainly an aesthetic problem, which is ideally managed by combined orthodontic, prosthodontic and oral surgical treatment; alternatively, it can be left untreated

Double adverse drug reaction: Recombinant human growth hormone and idiopathic intracranial hypertension - acetazolamide and metabolic acidosis: a case report.

A 9-year-old girl, treated for growth hormone deficiency, developed bitemporal progressive headache, diplopia, acute comitant esotropia and visual loss 3 months after starting recombinant growth hormone. An increased intracranial pressure was revealed by examination of ocular fundus and lumbar puncture, and the absence of other causes, ruled out through a brain scan, led to the diagnosis of idiopathic intracranial hypertension.Recombinant growth hormone was discontinued and acetazolamide started up to 30 mg/kg/die without any clinical improvement but developing metabolic acidosis. The switch to intravenous dexamethasone (0.4 mg/kg/die) led to a dramatic clinical improvement after only 1 day, then confirmed by examination of ocular fundus and visual evoked potentials. Currently, there are no evidence-based guidelines for the management of intracranial hypertension, and even though acetazolamide is recognized as the first-line drug, its efficacy and safety have not been proven: some patients might not respond and others will present unacceptable side-effects. Therefore we suggest the use of corticosteroids in intracranial hypertension when acetazolamide is inefficient or intolerable