Ingrid Rabach

Diagnostic accuracy of ultrasonography for hand bony fractures in paediatric patients

Objective Hand fractures are common in childhood, and radiography is the standard diagnostic procedure. US has been used to evaluate bone injuries, mainly in adults for long-bone trauma; there are only a few studies about hand fractures in children. The purpose of this study was to evaluate and confirm the safety and applicability of the US diagnostic procedure in comparison to X-ray diagnosis. Study design This cross-sectional study involved a convenience sample of young patients (between 2 and 17 years old) who were taken to the emergency department due to hand trauma. After clinical assessment, patients with a suspected hand fracture first underwent X-ray, and subsequently US examination by two different operators; a radiologist experienced in US and a trained emergency physician in “double-blind” fashion. US and radiographic findings were then compared, and sensitivity as well as specificity was calculated. Results A total of 204 patients were enrolled in the study. Seventy-nine fractures of phalanges or metacarpals were detected by standard radiography. When US imaging was performed by an expert radiologist, 72 fractures were detected with sensitivity and a specificity of 91.1% and 97.6%, respectively. Sensitivity and specificity were found to be (respectively) 91.5% and 96.8% when US was performed by the ED physicians. Conclusions US imaging showed excellent sensitivity and specificity results in the diagnosis of hand fractures in children. The study also showed a great agreement between the results of the US carried out by the senior radiologist and those carried out by the paediatric emergency physician, suggesting that US can be performed by an ED physician, allowing a rapid and accurate evaluation in ED and could become the first diagnostic approach whenever a hand fracture is suspected.

Es eficaz el tratamiento con hidroxicloroquina en el déficit de proteína C surfactante

We present the case of two twin brothers with surfactant protein C deficiency who were treated with hydroxychloroquine for three years, with apparent success. The exact physiopathology of this disease is not known and there is no specific treatment for it. There is merely news from a few previous descriptions in the literature about the use of hydroxychloroquine for surfactant protein C deficiency with satisfactory results. Two years after the treatment was withdrawn, the twins were evaluated once again: they presented no new infections, growth and general state were normal and chest CT showed a notable additional reduction in the interstitial pneumopathy. These data seem to cast some doubt on the efficacy of hydroxychloroquine, and they suggest that the clinical improvement was simply the natural evolution of the disease.

Differential expression of GAS5 in rapamycin-induced reversion of glucocorticoid resistance

This study evaluates the association between the long noncoding RNA GAS5 levels and the anti‐proliferative effect of the glucocorticoid (GC) methylprednisolone (MP) alone and in combination with rapamycin in peripheral blood mononuclear cells (PBMCs) obtained from healthy donors. The effect of MP, rapamycin, and MP plus rapamycin was determined in 17 healthy donors by labelling metabolically active cells with [methyl‐3H] thymidine and the expression levels of GAS5 gene were evaluated by real‐time RT‐PCR TaqMan analysis. We confirmed a role for GAS5 in modulating GC response: poor responders presented higher levels of GAS5 in comparison with good responders. Interestingly, when PBMCs were treated with the combination of rapamycin plus MP, the high levels of GAS5 observed for each drug in the MP poor responders group decreased in comparison with rapamycin (P value = 0.0134) or MP alone (P value = 0.0193). GAS5 is involved in GC resistance and co‐treatment of rapamycin with GCs restores GC effectiveness in poor responders through the downregulation of the long noncoding RNA. GAS5 could be considered a biomarker to personalize therapy and a novel therapeutic target useful for the development of new pharmacological approaches to restore GC sensitivity.

A young soccer player with sudden pain after kicking the ball

A 14 year old boy presented to the emergency department with a 10 day history of pain in his left hip. He reported that the pain had started after he kicked the ball during a soccer game. The pain was not particularly intense—he played until the end of the match—but it had persisted since then, tended to recede at rest, and reappeared during soccer training. No swelling or bruising was seen on inspection of the inguinal area. He could walk and bear weight on his left leg without pain. Moderate tenderness was referred to the inguinal region, slightly below the inguinal ligament. Movements of flexion and lateral rotation of the hip were limited because of pain. A diagnosis of pelvic muscular strain was made and he was discharged with anti-inflammatory drugs and rest for one week. He was initially well but the pain recurred when he began to play soccer one week later. Plain radiography was then performed (fig 1⇓). ### 1. What does the radiograph show? #### Answer A bone fragment displaced from the pelvis. #### Discussion Plain radiography of the pelvis shows a 1 cm bony fragment displaced laterally to the pelvic bone (fig 2⇓). A subtle cortical irregularity of the pelvis is also visible, which suggests that the fragment originated from the anterior inferior iliac tuberosity. Fig 2 Pelvic radiograph showing a bone fragment (about 1 cm) displaced laterally to the pelvic bone (arrow) A conventional anteroposterior radiograph is the imaging modality of choice when a pelvic fracture is suspected: displaced bone fragments are usually seen as radiopaque particles lying immediately adjacent to the parent bone. However, when the …

Histoproteomic Characterization of Localized Cutaneous Amyloidosis in X-Linked Reticulate Pigmentary Disorder

tion 0.4 mg/mL, dilution 1: 300; Altas Antibodies, AlbaNova University Center, Stockholm, Sweden), light chain negative (DAKO, Glostrup, Denmark) with intense immunoreactivity of the amorphous deposits for IgG (DAKO, Glostrup, Denmark), and CK AE1/AE3 positive (concentration 0.4 mg/mL, dilution 1: 300; Altas Antibodies; Fig. 1 e, f). Further proteomic analysis detected the overexpression of a group of proteins that were potentially involved in the pathogenesis of the localized cutaneous amyloidosis (LCA; Table 1 ) [6– 9] . In particular, one of these proteins was identified as apolipoprotein E, a chaperon protein found in the dermis of patients affected by lichen amyloidosis and macular amyloidosis, thus suggesting that a dysregulation of the apoptosis system is an initial cause of the disorder [8] . Another candidate from the same group of proteins is galectin-7, a proapoptotic protein that is expressed by the damaged keratinocytes [6, 7] and is related to the cathepsin and trypsin-like families. Furthermore, SAP (serum amyloid P component), a member of the pentraxin family, has been identified Dear Editor, Skin involvement is an inconsistent but characteristic feature of the X-linked reticulate pigmentary disorder (XLRPD; OMIM 301220), a rare entity that is characterized by recurrent infections and autoimmune reactions against various organs with respiratory, gastrointestinal, and neurological manifestations [1] . Given that many patients require transplantation [2] , dermatologists should consider graft versus host disease (GVHD) during a differential diagnosis. In XLRPD, histology essentially reveals the presence of amyloid deposits that are mainly localized within the dermoepidermal junction of adult patients, leading to the hypothesis that this is an age-related condition [3–5] . In their report, Pezzani et al. [2] described a case of genetically confirmed XLRPD in which no dermopathological symptoms were present at diagnosis. However, during 4 years of follow-up, the same child developed a peculiar skin lesion that was clinically suggestive of GVHD ( Fig. 1 a, b). A skin biopsy showed a prominent amyloid deposition, whilst also being Congo red positive ( Fig. 1 c, d), anti-AAP negative (concentraReceived: August 5, 2016 Accepted after revision: February 17, 2017 Published online: April 4, 2017

A Spotted Bone

A 13-year-old girl was referred to our emergency department complaining of pain in the left ankle after a fall while running. Clinical examination was unremarkable, except for mild localized pain. Radiologic examination was negative for fractures but numerous, symmetric, welldefined, sclerotic lesions were identified (Figure 1). The bone islands, which sizes varied from 2 to 12 mm, were clustered around the joints and aligned themselves parallel to surrounding trabeculae, thus predominantly longitudinally in the metaphyses. Similar lesions involving the contralateral ankle and both wrists were noted (Figure 2; available at www.jpeds.com). These characteristic radiologic findings were suggestive for osteopoikilosis. Osteopoikilosis is a rare asymptomatic osteosclerotic dysplasia, with an incidence of 1 in 50 000. Both inherited

Macrocephaly and palmoplantar pitting

A 4-year-old boy presented with macrocephaly, hypertelorism and broad forehead (figure 1). His 2-year-old sister and their mother also presented with macrocephaly without developmental delay. The mother had a history of numerous basal skin carcinomas from the age of 20 years and of odontogenic keratocysts since she was a child. All three showed palmoplantar pitting after …

A curious rash.

A 16-year-old boy presented because of the occurrence of a nonpruritic rash involving mainly the trunk. He had a fever and sore throat the previous week, for which he began antibiotic therapy (amoxicillin-clavulanate) for 7 days, without any improvement. As a result, at 2 days before admission to the emergency department, therapy had been switched to ciprofloxacin. On physical examination, he was febrile (38 C) but in good general condition. He had pharyngitis with laterocervical lymphadenopathy and a morbilliform rash involving the neck and both arms, with spread to the entire trunk (Figure 1), sparing a rectangular area at the left side (Figure 2), where up to 4 days earlier he had applied an anti-inflammatory patch (diclofenac) for back pain. The diagnosis of infectious mononucleosis was confirmed a few days later on the basis of Epstein-Barr virus–specific IgM and IgG antibodies.