Giulia Gortani

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a hereditary bone disease characterized by decreased bone density and multiple fractures, usually inherited in an autosomal dominant manner. Several gene encoding proteins related to collagen metabolism have been described in some cases of autosomal recessive OI (including CRTAP, LEPRE1, PPIB, FKBP65, SERPINF1, BMP1, WNT1, FKBP10). Recently, TMEM38B, a gene that encodes TRIC-B, a monovalent cation-specific channel involved in calcium flux from intracellular stores and in cell differentiation, has been associated with autosomal recessive OI. Here, we describe the second deletion-mutation involving the TMEM38B gene in an 11 year-old Albanian female with a clinical phenotype of OI, born to parents with suspected consanguinity. SNP array analysis revealed a homozygous region larger than 2 Mb that overlapped with the TMEM38B locus and was characterized by a 35 kb homozygous deletion involving exons 1 and 2 of TMEM38B gene.

Infliximab-related vasculitis in patients affected by ulcerative colitis.

226 is a new approach (UC). The use of ant B iological therapy for the treatment of ulcerative colitis itumor necrosis factor agents has been associated with an increased frequency of autoimmune diseases, principally cutaneous vasculitis, lupus-like syndrome, systemic lupus erythematosus, and interstitial lung disease. These adverse reactions have been described in patients with Crohn disease (1), juvenile rheumatoid arthritis (2,3), ankylosing spondylitis, and psoriatic arthritis (4). We report 4 cases of infliximabrelated vasculitis in patients affected by UC.

Procedural sedation for intra-articular corticosteroid injections in juvenile idiopathic arthritis (JIA) should be a standard of care.

We appreciated the report by Casado et al. regarding sedation for intra-articular corticosteroid injections (IACI) in juvenile idiopathic arthritis (JIA) [2]. However we cannot share their conclusions since they compared Sevoflurane sedation with no sedation, without considering other possible approaches. In our institute, non-anesthesiologists-administered propofol (NAAP) and nitrous oxide (N2O) are routinely used for sedation for IACI. The safety and efficacy of NAAP in defined settings after proper training and patient selection is reported in literature [3]. In the period between 2000 and 2013 in our institute, 461 patients underwent IACI with NAAP without any relevant complication. Inhaled N2O has also been shown to provide effective and safe sedation for JIA children undergoing IACI [1]. Since 2012, N2Owas offered by us to children older than 6 scheduled for joint injection. We performed 43 procedures in 35 patients (median age, 11 years; range, 6–18). Premedication with oral midazolam (0.5 mg/kg) was used in 23/35 patients. All patients completed a visual analogue pain scale (VAS; 0–10 cm) immediately after the procedure and after 30 and 60 min. Ramsay score and recall of the procedure were used to assess the level of sedation. Median Ramsay score was 2 (range, 1–3), corresponding to a quiet and collaborating patient. No pain (VAS 0) was reported in 27/35 patients immediately after the procedure and in 28/35 patients after 60 min. Median reported VAS was 4 (range, 0–10) immediately after the procedure, 3 after 30 min (range, 0–8) and 1.5 after 60 min (IQR, 1–2.5; range, 0–7). Vomiting occurred in one patient. No other adverse event was observed. Six out of 35 patients had memory of the procedure. Avoidance of pain and discomfort during hospitalization is a priority for children with chronic illness: procedural sedation, either deep or moderate, can be safely performed in JIA children by trained pediatricians and should be considered as a standard of care.

Two lumens, one diagnosis

A previously healthy 2-year-old boy was admitted for recurrent episodes of enterorrhagia, with no abdominal pain, fever, constipation, or diarrhea. The physical examination was unremarkable. Results of laboratory investigations (total blood count, inflammatory indexes, clotting tests) were normal. The patient received no medication. An abdominal ultrasound scan ruled out a small-bowel intussusception.Nobleeding sourcewasdetected at esophagogastroduodenoscopy and colonoscopy, and no heterotopic gastric mucosa was identified on subsequent technetium-99 m pertechnetate scan. Despite a negative result from radionuclide imaging, there was still a high clinical suspicion of a Meckel diverticulum. Thus a wireless capsule endoscopy (WCE) was performed. The device was placed with specific endoscopic technique in the stomach with sedation because the patient was unable to swallow it. By means of WCE, the presence of an orifice about 30 cm from the ileocecal valve, appearing as a double intestinal

Successful treatment of refractory hughes stovin syndrome with infliximab

Hughes-Stovin Syndrome (HSS) is a very rare clinical disorder characterized by pulmonary artery aneurysms and peripheral venous thrombosis. Typical symptoms are recurrent fever, chills, haemoptysis and it usually affects young men. The natural course of the illness is usually fatal because of fulminant haemoptysis. The aetiology of Hughes-Stovin syndrome is still unknown; however it is supposed to be a clinical variant manifestation of Behcet disease.

Chronic recurrent multifocal osteomyelitis: experience from a single pediatric rheumatology center over the past ten years

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare inflammatory disorder that primarily affects children. Its hallmark is recurring episodes of sterile osteomyelitis. The clinical presentation is insidious bone pain with or without fever. Pathogenesis is still unknown and there is no any effective treatment.

A ''shocking'' appendicitis

Abstract We report a case of Klebsiella oxytoca sepsis as a complication of nonperforated appendicitis in an 11-year-old immunocompetent boy. Even if septicemia is not mentioned in major reviews as a complication of nonperforated appendicitis, several cases have occasionally been reported in adult patients in the literature. The pathogenesis of sepsis with nonperforated appendicitis is still not clear, but a mechanism of bacterial translocation has been taken into account to explain the spread of microorganisms from the intestinal lumen to the systemic blood stream. Clinicians should therefore be aware of this occurrence.

If it was not a sinusitis

A 13-year-old girl presented at our hospital with a 3-month history of nasal obstruction, headache, hearing loss and severe weight loss. She also had nasal obstruction with occasional bleeding and a persistent ‘nasal twang’. These symptoms had previously been referred to as chronic sinusitis. Oral inspection showed a bulging soft palate (figure 1) and nasal examination by anterior rhinoscopy detected a soft mass totally obstructing choanae. No cervical lymphadenopathy was palpable. Blood examination showed leukocytosis, elevated C-reactive protein and …