A rare association between group A Streptococcus purpura fulminans and diffuse alveolar hemorrhage in a young girl: A case report.

We report the case of a 7-year-old girl with septic shock and coagulopathy associated with purpura fulminans (PF) and diffuse alveolar hemorrhage (DAH) due to group A Streptococcus (GAS) infection identified with 16S ribosomal RNA analysis performed on the skin biopsy. GAS infection with PF associated with DAH is rare in healthy young children but pediatricians should be aware of this condition because of the poor prognosis. The initial treatment for circulatory failure and severe disseminated intravascular coagulation as well as the prompt initiation of antibiotic treatment may be crucial for the outcomes of S. pyogenes PF.

Trampoline injuries compared with other child activities.

INTRODUCTION: Trampolines are responsible for specific injuries. We examined the severity of these injuries in children compared with those occurring in other activities. Our primary goal was to compare the injury severity between trampolining and other activities. Our secondary goal was to evaluate risk factors for severity in order to establish preventative measures and, third, to evaluate the increased prevalence of these injuries in our hospital from 2008 to 2016. MATERIAL AND METHODS: Our study was a retrospective, comparative, descriptive, and epidemiological research. Children aged 2-15 years admitted to our traumatology emergency services between June and October 2016 were included in the study. Non-sport-related injuries were excluded. Serious injuries were classified as fractures and admissions to the operating room. RESULTS: In total, 1106 children were admitted including 107 trampoline accidents. The fracture rate was similar in the two groups: 34 (31.78%) vs. 309 (30.93%), OR=1.039, 95% CI [0.65, 1.62] P=0.91. Surgical treatments were more frequent in the trampoline group: 4 (3.74%) vs. 18 (1.80%) OR=2.114, 95% CI [0.51, 6.58] P=0.156. Several people jumping simultaneously on the trampoline was a risk factor (OR=1.56, 95% CI [1.0908, 2.308], P=0.018). Parental supervision was a protective factor (OR=0.271, 95% CI [0.08, 0.80], P=0.023). Trampolining accidents were 9.7 times more common in our center in 2016 compared with 2008. DISCUSSION: To our knowledge, no study has compared trampoline injuries with those stemming from other activities. Awareness campaigns are needed as well as information from sellers, who have to be trained. CONCLUSION: Surgical treatments are twice as likely in trampoline accidents. Prevention is simple: Children should be alone on the trampoline and supervised by an adult.

Urine collection methods used for non-toilet-trained children in pediatric emergency departments in France: A medical practice analysis.

INTRODUCTION: Since April 2015, the French Society of Pediatrics has encouraged suprapubic aspiration (SA) and urethral catheterization (UC) for urine collection in non-toilet-trained children suspected of having urinary tract infections (UTIs) and has tried to reduce the use of urine bag (UB). OBJECTIVE: To analyze the medical practices concerning urine collection methods used for non-toilet-trained children in pediatric emergency departments in France. METHODS: We conducted a descriptive medical practice study in October 2017. All members of the French Society of Pediatric Nephrology received two questionnaires about urine collection methods used for non-toilet-trained children, distinguishing between male and female patients, and about the corresponding analgesic protocols used in their pediatric emergency departments. RESULTS: In total, 26 centers completed questionnaires concerning female patients. UC was performed in cases of fever associated with urinary tract malformations in 14 of 26 centers (54%). UB was used in cases of fever of unknown origin lasting for more than 48h in 17 of 26 centers (65%), in cases of fever associated with UTI symptoms in 14 of 26 centers (54%), and in cases of fever in infants under 3 months of age in 16 of 26 centers (61%). The questionnaires concerning male patients were completed by 30 centers. UB was the initially used urine collection method in all situations with, respectively, 22 of 30 (73%), 27 of 30 (90%), 23 of 30 (77%), and 22 of 30 (73%) centers. The analgesic protocol for urine collection is not well established in France. CONCLUSION: UC for urine collection in pediatric emergency departments in France is underused despite the national recommendations and the greater diagnostic power of this method compared with UB.

CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait.

CONTEXT: Loss-of-function mutations of CYP24A1 (which encodes the 25-OH-D3-24-hydroxylase) have recently been reported to cause hypercalcemia. OBJECTIVES: The aims of this study were: 1) to evaluate the frequency of CYP24A1 mutations in patients with medical history of hypercalcemia; 2) to show the clinical utility of a simultaneous assay of serum 25-hydroxyvitamin D3 (25-OH-D3) and 24,25-dihydroxyvitamin D3 (24,25-[OH]2D3) by liquid chromatography tandem mass spectrometry (LC-MS/MS); and 3) to investigate biochemical parameters in heterozygous gene carriers with CYP24A1 mutations. PATIENTS AND METHODS: We screened for CYP24A1 mutations in 72 patients with serum calcium levels > 2.6 mmol/L and PTH levels < 20 pg/mL and recruited 24 relatives after genetic counseling for subsequent investigations. Vitamin D metabolite concentrations were assessed in a subset of patients by LC-MS/MS and results expressed as a ratio (R) of 25-OH-D3:24,25-(OH)2D3. RESULTS: Twenty-five patients with hypercalcemia (35%) harbored CYP24A1 variations. Twenty (28%) had biallelic variations, mostly found in subjects with nephrocalcinosis or renal stones (19/20). Five patients, all neonates, were heterozygous, without renal disease. We describe 15 new variations leading to loss-of-function according to pathogenicity prediction programs, and we functionally characterized 5 of them in vitro. A dramatic increase of R, usually >80, was found in patients harboring biallelic mutations providing evidence in vivo for the loss of CYP24A1 activity. In contrast, R value remains <25 in patients without CYP24A1 mutations. Subjects carrying one mutant allele, hypercalcemic individuals, as well as gene-carrier relatives, had a detectable 24,25-(OH)2D3 level and R < 25, indicating normal 24-hydroxylase activity. CONCLUSION: CYP24A1 biallelic mutations are frequently found in patients presenting with hypercalcemia, low PTH, and renal disease. We confirm the accuracy and effectiveness of a novel blood test estimating the ratio between relevant vitamin D metabolites as a useful screening tool for CYP24A1 mutations. Haploinsufficiency is not associated with CYP24A1 deficiency.

Failure of bortezomib to cure acute antibody-mediated rejection in a non-compliant renal transplant patient.

Bortezomib has appeared recently as a potential active treatment for acute AMR for few years. We reported a patient who received two courses of bortezomib for the treatment of an acute AMR associated with de novo HLA DSA that occurred 18 months after renal transplantation because of non-compliance. Graft biopsy revealed features of acute humoral rejection with plasmocyte infiltration and C4d staining. Bortezomib was associated with corticosteroid pulses, IVIgs, and PP. Despite this rapid management, the patient lost his graft and carried on dialysis. Bortezomib therapy in addition to current therapy of AMR is not always effective in the treatment for late acute AMR in renal transplantation. We discuss on the place of such a treatment and other therapeutic strategies in this indication.

[Haemophilus meningitis in properly vaccinated children: report of three cases]. / Méningites à Haemophilus chez des enfants vaccinés : à propos de 3 cas.

The 1993 introduction in France of the vaccine against the serotype b of Haemophilus influenzae (Hib) resulted in a fast reduction of invasive infections caused by this species. However, despite the introduction of a booster dose, cases of Hib meningitis can still be observed, even if they are exceptional. We report here on 3 cases of Hib meningitis observed at Rennes University Hospital, which occurred during the winter seasons between 2007 and 2010, in properly vaccinated infants and children aged 9, 14, and 29 months. Progression after treatment was satisfactory in all 3 cases, and no immune deficiency was detected. After 18 years of the vaccination policy in France, these observations demonstrate that a risk, although much lower, of Hib meningitis persists in infants and children, including in vaccinated patients, and that strains still are circulating within the general population.

[Results of autopsy examination of the knee cartilage of 120 patients dying in the hospital. II. The femoro-tibial joint]. / Résultats de l'examen autopsique des cartilages des genoux chez 120 subjets décédés en milieu hospitalier. II. Articulation fémoro-tibiale.

The authors have studied the autopsy results of both tibio-femoral joints in 120 patients: 57 women and 63 men, 112 of whom were over the age of 50. The condylar and tibial cartilages were classified into 5 categories: no lesion (0); slight fissure (I); severe fissure (II); slight deep ulceration (III); large ulceration (in more than 25 p. cent of the cartilage surface) exposing the sub-chondral bone (IV). In 120 patients, the 4 condyles in 58 patients (43.8 p. cent) and both tibio-femoral joints in 51 patients (42.5 p. cent) did not present any degenerative lesions beyond stage I. Stage III and IV cartilaginous lesions are rare before the age of 50. Their frequency suddenly increases after the ages of 70 in women and 80 in men. 44 p. cent of women and 31 p. cent of men presented tibio-femoral cartilaginous lesions of stages II or IV in at least one knee; 15.8 p. cent of women and 4.7 p. cent of men presented tibio-femoral lesions, stage IV, in at least one knee. In 58 p. cent of stage III and IV knee lesions, the menisci were abnormal: atrophic or torn. A menisco-chondrocalcinosis was found in 50 knees (20.8 p. cent of knees) of 28 patients (23.3 p. cent of patients). After the age of 60, the cartilaginous lesions were more severe and more extended in knees with menisco-chondrocalcinosis).

Solitary plasmacytoma of the spine. Long-term clinical course.

The data for 19 patients with solitary plasmacytoma of the spine were reviewed with regard to clinical course and prognosis (median follow-up, 96 months). Eight patients presented with spinal cord compression. A monoclonal immunoglobulin was initially detected in seven of 15 evaluable patients. Treatment included radiotherapy (18 of 19) and/or surgery (11 of 19) and chemotherapy (eight of 19). Spinal cord compression was reversed in every patient. The expected survival rate was 85% at 10 years after diagnosis. Local recurrence or dissemination was observed in 13 patients. It occurred within 5 years of diagnosis in 11 patients and was localized (that is, local recurrence or single bone metastasis) in eight patients. It was always associated with the appearance or an increase of the M component. Dissemination frequently had a "metastatic" pattern with no diffuse bone marrow plasmacytosis. The incidence of local recurrence (five patients) and leukemia (four patients) was high. Local recurrence and/or dissemination were significantly more frequent in patients with the M component at diagnosis than in those without it (P less than 0.05; relative risk, R = 4). The effectiveness of surgery and chemotherapy combined with radiotherapy is also discussed.

[Lupus disease with antinuclear antibodies of the nucleolar type. Apropos of a series of 13 cases]. / Maladie lupique avec anticorps antinucléaires de type nucléolaire. A propos d'une série de 13 cas.

An exclusive or predominant nucleolar location of antinuclear antibodies is rare in the course of lupus disease: less than 1 p. cent of our patients. Thirteen cases of lupus disease with exclusive or predominant antinucleolar antibodies are analyzed: clinically, the only difference from other lupus diseases is the absence of pleurisy (p less than 0.03) and the frequent thrombopenia (p = 0.05). A proliferative glomerular lesion was found 4 times on renal biopsy. No patient presented any indications of overlapping sign with sclerodermia, polymyositis or Gougerot-Sjögren syndrome which are usually associated to a nuclear fluorescence of nucleolar type. 11 out of 13 patients have natural anti-DNA antibodies, including 9 with a very weak titer. Six patients present cytoplasmic anti-organic antibodies. Four patients have antibodies which precipitates on gelose, identifying nuclear or cytoplasmic antibodies: in 1 instance anti-SS-B et SS-A (Ro), in 1 instance anti-ribosomes associated with anti-ADN, in one instance anti-DNA. No serum contained anti-histones antibodies. The study of the sensitivity of nucleolar antigens to digestion by various enzymes (DNAse, RNAse and trypsin) showed that antinucleolar sera could be placed into three groups: 8/10 recognize a ribonucleic antigen, 1/10 a ribonucleoproteic antigen and 1/10 an antigen resisting to various enzymatic digestions. Therefore, in spite of its rarity, an exclusively nucleolar fluorescence should not rule out the diagnosis of lupus disease.

Profile and cross-reactivities of antiphospholipid antibodies in systemic lupus erythematosus and syphilis.

Antiphospholipid antibodies have been determined in two groups of 48 sera from patients with systemic lupus erythematosus (SLE) and syphilis. Using an ELISA, IgG anticardiolipin (CL), antiphosphatidyl serine (PS) and antiphosphatidyl ethanolamine (PEA), antibodies have been detected with the same frequency in both groups of patients. Titres of antiphosphatidyl serine (PS) (p less than 0.005) and PEA antibodies (p less than 0.05) were significantly higher in the syphilitic sera compared to the SLE sera. Anticardiolipin binding activity of both groups of sera could be inhibited by preincubation with phosphatidic acid, phosphatidyl serine, phosphatidyl glycerol and cardiolipin antigens, but the inhibiting ratio of phosphatidyl antigen was significantly higher (p less than 0.01) in the SLE group. These data suggest that anticardiolipin auto-antibodies present in SLE sera are very similar to the "reagins" or antibodies to cardiolipin seen in syphilitic sera. IgG anticardiolipin antibodies may be an epiphenomenon and are probably not implicated in the pathogenesis of the thrombotic diathesis seen preferentially in some patients with SLE.

Anti-mitochondrial type 5 antibodies and anti-cardiolipin antibodies in systemic lupus erythematosus and auto-immune diseases.

Twenty sera from patients with systemic lupus erythematosus (SLE) and high titre of IgG anti-cardiolipin antibodies (ACA) were studied in order to evaluate the prevalence of anti-mitochondrial type 5 antibodies (AMA 5). None of these sera were found to be AMA 5 positive but five of 18 were positive for VDRL. Twenty sera from patients with AMA 5 were studied in order to evaluate the prevalence of ACA: only six of 20 were positive for ACA. In contrast to this finding, 15 of the 20 sera positive for AMA 5 were also positive for VDRL (P less than 0.001). The six sera positive for ACA and AMA 5 were absorbed with cardiolipin micelles. This absorption eliminated the ACA activity but not the AMA 5 activity. Despite the clinical similarities between the two groups of patients with AMA 5 or ACA, these data suggest that patients with AMA 5 and patients with ACA belong to two different subsets of SLE or SLE-like syndromes and that AMA 5 antigen is different from cardiolipin.

Antiphospholipid antibodies: a disease marker in 25 patients with antinuclear antibody negative systemic lupus erythematosus (SLE). Comparison with a group of 91 patients with antinuclear antibody positive SLE.

Twenty-five antinuclear antibody (ANA) negative patients with systemic lupus erythematosus (SLE) or lupus-like disease were compared to 91 ANA positive patients with SLE for clinical and biological symptoms. Cutaneous symptoms were infrequent in ANA negative patients (p less than 0.03). Thrombocytopenia (p less than 0.001), venous or arterial thrombosis (p less than 0.02) as well as cerebral infarction (p less than 0.001) were more frequent. Three types of antiphospholipid antibodies were determined by different methods; the VDRL, the lupus anticoagulant and an ELISA for IgG anticardiolipin antibody (aCL). The frequency of a positive VDRL test was significantly higher in the ANA negative group (p less than 0.05). Correlation studies suggest that the 3 methods are not redundant and detect overlapping but not identical antibodies. Of the 3 antiphospholipid antibody assays, only the IgG aCL test was significantly associated with thrombosis in the ANA negative group (p less than 0.02).

HLA haplotypes in non-familial rheumatoid arthritis.

The frequencies of HLA-A, B, C, DR, and BF haplotypes in 44 unrelated Caucasian patients with definite seropositive rheumatoid arthritis (RA) were compared with haplotype frequencies in controls. Overall, the patients had an increased risk for HLA-DR4, DR3, and DR2 antigens, but frequencies of certain DR4 or DR3 haplotypes were not increased, suggesting the importance of other HLA loci for the evaluation of risk. The presence of DR4 alone was not found to produce an increased risk for RA since the frequencies of certain DR4 haplotypes were similar in patients and controls. Increased frequencies of HLA-B18, DR4, HLA-B15, DR4, and HLA-A1, B8, Cw7, DR3 haplotypes were found in patients. RA susceptibility has been found to be associated with the last two haplotypes in some studies of multiple case families, suggesting that similar genetic mechanisms may underlie the disease in familial and sporadic forms.

[The principle antinuclear and anti-cytoplasmic antibodies in polymyositis and dermatomyositis. Study of 42 cases]. / Principaux anticorps antinucléaires et anticytoplasme au cours des polymyosites et des dermatomyosites. Etude de 42 observations.

Using indirect immunofluorescence methods on rat liver sections and HEp-2 cells, combined with immunoprecipitation in agar, we were able to detect antinuclear antibodies in 76% of sera from 42 patients with polymyositis or dermatomyositis. In addition, 7% of the patients had anti-cytoplasmic antibodies without antinuclear antibodies. With immunofluorescence, the most common pattern was a nuclear fluorescence that was homogeneous on rat liver sections (11 cases) and speckled on HEp-2 smears (16 cases). The frequency of antinuclear antibodies was the same in the different categories of myositis as classified by Pearson. Precipitating antibodies were observed in 15 cases (36%). Two specific antibodies were frequently encountered: anti-Jo1 in 8 cases (19%) and anti-Pm-Scl in 5 cases (12%). Anti-Jo1 antibodies were present in both polymyositis and dermatomyositis. Seven out of the 8 patients with anti-Jo1 antibodies had pulmonary fibrosis (P less than 0.03).

[Alizarin red staining of articular fluids. Comparison of the results with electron microscopy and clinical data]. / Coloration par le rouge alizarine des liquides articulaires. Confrontation des résultats avec ceux de la microscopie électronique et avec les données cliniques.

Coloration of articular fluids with alizarin S red has been proposed as a method of sensitive detection of calcium microcrystals, especially apatite crystals. We are reporting the results of a study of 230 non-selected fluids. The results of the coloration were quantified into negative, slightly positive, moderately positive and strongly positive. Study of X-Rays of the tapped joint and of the hospital file was done in 199 patients. Electron microscope study, of 44 fluid samples, shows that the coloration with alizarin red permits a reliable detection of calcium microcrystals in the articular fluid, only if the strongly positive results are taken into account. But the coloration is not specific for apatite: 5 strongly positive fluids out of 14 contain only, in electron microscopy, crystals of dihydrated calcium pyrophosphate. 10.8% of the stained fluids give a strongly positive result. In two cases, it concerns destructive arthropathies of the shoulder with periarticular calcifications. The other strongly positive results are found in chondrocalcinosis (52 p. cent), in arthrosis (17 p. cent) and in rheumatoid polyarthritis (15 p. cent). As a whole, the results are correlated with age and the degree of radiological destruction. The similar percentage of strongly positive fluids observed in arthrosis and rheumatoid polyarthritis, is not in favor of a specific role of apatite microcrystals in the pathogenesis of arthrosis. Since the majority of strongly positive fluids come from joints which are very destroyed, regardless of the arthropathy concerned (rheumatoid polyarthritis, chondrocalcinosis or arthrosis), it is possible to think that it is mostly the destruction of the sub-chondral bone which explains these results.

[Occult fractures of the sacrum in aged osteoporotic patients]. / Fractures occultes du sacrum chez le sujet âgé ostéoporotique.

We are reporting 4 cases of unnoticed sacral fractures in osteoporotic women. Their mean age was 73 years. Only in one case the fracture was seen on a standard X-Ray. On the other hand, hyperfixation with isotopes on the sacrum formed a very characteristic H-shaped image. In two of these patients, the sacral fracture was confirmed by tomodensitometry, but this examination was unavailing in the third patient. In the 4th case, hyperfixation of the isotope was not significant. Only a guided bone biopsy and the favorable evolution of the disease enabled the diagnosis of sacral fracture.

[Results of autopsy examination of knee cartilage in 120 patients dying in the hospital. I. Femoro-patellar joint]. / Résultats de l'examen autopsique des cartilages des genoux chez 120 sujets décédés en milieu hospitalier. I. Articulation fémoro-patellaire.

The authors have performed the pathological examination of the knees of 57 women and 63 men or 112 patients over the age of 50, who died in the hospital. The lesions of the patellar and trochlear cartilages were studied and classified according to four categories: stage I: non extended fissures; stage II: fissures extending over 25 p. cent of the articular surface; stage III: fissures associated with small deep ulcerations of the cartilage; stage IV: deeps and extended ulcerations of the articular cartilage exposing the sub-chondral bone. Cartilage alterations were found in 93.3 p. cent of the patellas; 26.2 p. cent of stage I; 22.5 p. cent of stage II, 27.1 p. cent of stage III; 17.5 p. cent of stage IV. These alterations are bilateral and symmetrical, most of the time. Their frequency and severity increase with age. Thus, deep and extended ulcerations (stage IV) of the patellar cartilage have a frequency of 1.9 p. cent before the age of 60.8 p. cent between 60 and 70 years, 13.6 p. cent between 70 and 80 years and 38.9 p. cent after 80 years. Alterations of the patellar cartilage are more frequent and more severe in women than in men. In 85.7 of the patellas they occupy both facets, overriding the patellar crest; more seldom, they are exclusively localized to the medial patellar facet (11.6 p. cent) or lateral facet (3.1 p. cent). Alterations of the trochlear cartilage, although more common are less frequent than that of the patellar cartilages. Patellar osteophytosis is very frequent.(ABSTRACT TRUNCATED AT 250 WORDS)

[Antiphospholipid antibodies in a series of 25 cases of lupus without antinuclear antibodies. Comparison with a series of 91 lupus patients with antinuclear antibodies]. / Etude des anticorps antiphospholipides dans une série de 25 maladies lupiques sans anticorps antinucléaires. Comparaison avec une série de 91 lupus avec anticorps antinucléaires.

Twenty-five patients with at least 3 of 1982 ARA criteria of SLE but without the ANA, were compared with 91 patients with 4 or more of the ARA criteria of lupus with positive ANA. The ANA-negative group was characterised by the low incidence of skin involvement, serous effusions and alopecia, and a relatively high incidence of thrombocytopaenia and venous and arterial thrombosis. Three types of antiphospholipid antibodies were looked for: the VDRL, antiprothrombinase and anticardiolipin antibodies by an immuno-enzymatic method. The VDRL was the only antibody which was significantly commoner in the ANA-negative group. Statistical studies showed that the three methods of demonstrating antiphospholipid antibodies detected crossed but not identical specificities. In the ANA-positive group only the antiprothrombinase was associated with a high incidence of venous thrombosis and stroke. In the ANA-negative group, only the anticardiolipin antibodies were associated with a high incidence of arterial or venous thrombosis. Two subgroups may be identified in the group of ANA-negative lupus patients: firstly, those with high anticardiolipin antibody titres with a high incidence of thrombotic and haematological complications, and, secondly, patients with low anticardiolipin antibody levels with a high incidence of cutaneous involvement, serous effusions and Raynaud's phenomenon.