Structure and function of neonatal social communication in a genetic mouse model of autism.

A critical step toward understanding autism spectrum disorder (ASD) is to identify both genetic and environmental risk factors. A number of rare copy number variants (CNVs) have emerged as robust genetic risk factors for ASD, but not all CNV carriers exhibit ASD and the severity of ASD symptoms varies among CNV carriers. Although evidence exists that various environmental factors modulate symptomatic severity, the precise mechanisms by which these factors determine the ultimate severity of ASD are still poorly understood. Here, using a mouse heterozygous for Tbx1 (a gene encoded in 22q11.2 CNV), we demonstrate that a genetically triggered neonatal phenotype in vocalization generates a negative environmental loop in pup-mother social communication. Wild-type pups used individually diverse sequences of simple and complicated call types, but heterozygous pups used individually invariable call sequences with less complicated call types. When played back, representative wild-type call sequences elicited maternal approach, but heterozygous call sequences were ineffective. When the representative wild-type call sequences were randomized, they were ineffective in eliciting vigorous maternal approach behavior. These data demonstrate that an ASD risk gene alters the neonatal call sequence of its carriers and this pup phenotype in turn diminishes maternal care through atypical social communication. Thus, an ASD risk gene induces, through atypical neonatal call sequences, less than optimal maternal care as a negative neonatal environmental factor.

A pathogenesis-based transcript signature in donor-specific antibody-positive kidney transplant patients with normal biopsies.

Affymetrix Human Gene 1.0-ST arrays were used to assess the gene expression profiles of kidney transplant patients who presented with donor-specific antibodies (DSAs) but showed normal biopsy histopathology and did not develop antibody-mediated rejection (AMR). Biopsy and whole-blood profiles for these DSA-positive, AMR-negative (DSA +/AMR-) patients were compared to both DSA-positive, AMR-positive (DSA +/AMR +) patients as well as DSA-negative (DSA -) controls. While individual gene expression changes across sample groups were relatively subtle, gene-set enrichment analysis using previously identified pathogenesis-based transcripts (PBTs) identified a clear molecular signature involving increased rejection-associated transcripts in AMR - patients. Results from this study have been published in Kidney International (Hayde et al., 2014 [1]) and the associated data have been deposited in the GEO archive and are accessible via the following link: http://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE50084.

[Factors associated with early invasive strategy in patients with acute coronary syndrome. A multicenter study]. / Facteurs associés a la réalisation d'une coronarographie précoce en présence d'un syndrome coronarien aigu sans sus-décalage du segment ST. Résultats d'une etude multicentrique.

OBJECTIVES: To identify the factors associated with early cardiac catheterization in patients with a non ST-segment elevation acute coronary syndrome. METHODS: We analyzed data collected by retrospective chart review for 208 patients presenting at seven French hospitals with an acute coronary syndrome (chest pain at rest within 24 h prior to presentation with positive cardiac markers and/or electrocardiographic changes) between January and March 2005. RESULTS: Eighty-seven patients (42%) were first admitted to hospitals with cardiac catheterization facilities. One hundred ten patients (53%, 95% confidence interval [95% CI], 46-60) underwent early cardiac catheterization less than 48 h following presentation. In addition to presentation at hospitals with catheterization facilities, factors independently associated with early catheterization included positive cardiac markers in patients first admitted to hospitals without catheterization facilities (adjusted odds ratio [aOR] 34.5, 95% CI, 4.4-268.0) and diabetes mellitus (aOR, 0.4, 95%CI, 0.2-0.9). With the exception of positive cardiac markers, no risk factors comprising the TIMI risk score were associated with increased odds of early cardiac catheterization. During the index hospital stay, six patients (3%) died, seven patients (3%) had pulmonary edema, three patients (1%) had major or minor bleeding, and none had ST segment elevation myocardial infarction. CONCLUSION: Despite the dissemination of international guidelines, the use of early cardiac catheterization remains related to initial presentation at hospitals with catheterization facilities rather than risk assessment in patients with a non ST-segment elevation acute coronary syndrome.

[Primary cardiac sarcoma treated by orthoptic cardiac transplantation. Apropos of a case]. / Sarcome primitif cardiaque traité par transplantation cardiaque orthotopique. A propos d'un cas.

The authors report a new case of cardiac sarcoma treated by cardiac transplantation. This treatment has been proposed for these malignant tumours of poor prognosis when simple excision is impossible, with variable results. This patient is in good general condition 20 months after transplantation. Transplantation is a therapeutic procedure which should be considered in malignant tumours limited to the heart.

[Pulmonary perfusion tomoscintigraphy in pulmonary embolism. Preliminary study]. / Tomoscintigraphie pulmonaire de perfusion dans l'embolie pulmonaire. Etude préliminaire.

Tomoscintigraphy, a method developed over 10 years ago, is little used nowadays for the evaluation of suspected pulmonary embolism. The authors report the results of a preliminary study of 10 patients hospitalised for this condition. Tomoscintigraphy was normal in 2 cases and abnormal in 8 cases. Seven of these 8 patients underwent pulmonary angiography which confirmed the diagnosis of pulmonary embolism in 6 cases. The small number of patients, however, did not allow measurement of the sensitivity and specificity. Tomoscintigraphy, repeated at the 8th day and at the first month, provides an assessment of therapeutic efficacy. Some improvement is observed in all cases from the first control but the amount varies from one subject to another. At one month, 3 of the 6 patients undergoing control tomoscintigraphy had hypoperfusion sequellae. The simplicity of pulmonary tomoscintigraphy makes it a useful investigation for emergency diagnosis and follow-up pulmonary embolism.

[Vasculitis complicating treatment with streptokinase: delayed allergic reaction]. / Vascularite compliquant un traitement par streptokinase: une réaction allergique tardive.

The authors report a case of vascular purpura occurring eleven days after the injection of streptokinase for a myocardial infarction. This adverse event falls within a context of hypersensitivity vasculitis (type III). In this particular case, imputation to the thrombolytic agent was established by the official method for the imputation of adverse or toxic effects of drugs. Routine renal function studies were normal. The outcome was satisfactory following rest only but the existence of a mixed cryoglobulinemia, responsible secondarily for cold-related distal ischemic symptomatology of the lower limbs led to the successful prescription of a short course of corticosteroids.

[Importance of venous angioplasty in the treatment of subclavian venous thrombosis due to thoraco-brachial outlet syndrome]. / Intérêt de l'angioplastie veineuse dans le traitement d'une thrombose de la veine sous-clavière due à un syndrome du défilé thoraco-brachial.

A patient with subclavian vein thrombosis was treated successfully by transluminal angioplasty after initial inefficacy of thrombolytic agents. Although employed previously in the treatment of intrinsic and extrinsic subclavian vein stenosis with variable results, this technique has not been used up to the present for the acute phase of thrombosis. Because of the presence of a thoraco-brachial outlet syndrome, the procedure was completed by a first rib resection. A control phlebography in forced abduction at two month follow up showed excellent permeability of the subclavian vein.

[Fungal thrombus of the right atrium on a central venous catheter. Apropos of a case]. / Thrombus fongique auriculaire droit sur cathéter veineux central. A propos d'une observation.

The authors report the case of a 9 year old child in an intensive care unit after multiple trauma, presenting with a candida septicaemia and a central venous catheter. Echocardiography, performed because of the inefficacy of medical treatment, showed a right atrial thrombus. Surgical ablation was decided because of its extreme mobility and persisting infection, and resulted in cure of the patient.

Successful treatment of fungal right atrial thrombosis complicating central venous catheterization in a critically ill child.

A 9-year-old boy was admitted to our pediatric intensive care unit after multiple trauma. On the 17th day post trauma, he developed catheter-related sepsis with candidemia. After removal of the catheter and 6 days of unsuccessful intravenous antifungal therapy, conventional and transesophageal two-dimensional echocardiography was performed revealing a large right atrial thrombus. Surgical thrombectomy under cardiopulmonary bypass was performed and the patient recovered within a few days. Fungal right atrial thrombus is a rare, life-threatening complication of central venous catheterization. Two-dimensional echocardiography is a simple and effective diagnostic technique that should be performed when candidemia is detected. The proper therapeutic response depends on the findings of this examination. For a symptomatic patient with a large, mobile thrombus, we strongly recommend thrombectomy. Surgery not only allows removal of the mass and thus elimination of the mechanical complication but is also a key to management of infection.

[Jet intravenous injection of erythromycin lactobionate. A possible cause of the occurrence of crisis in torsade de pointe]. / Injection en flash intraveineux de lactobionate d'érythromycine. Une cause possible de survenue d'accès de torsade de pointe.

The authors report one case of torsade de pointe which occurred immediately after fast intravenous injection of a 1-gram dose of erythromycin lactobionate in a female patient who had undergone surgical replacement of the mitral and triscuspid valves 24 hours before. The responsibility of erythromycin was strongly suggested by the clinical data (syncope), electrocardiographic findings (electrocardiogram typical of torsade de pointe, slow rhythm and lengthened QT interval in the basal ECG) and the chronology of the sequence of intravenous injection of the antibiotic and the rhythm disorder. A literature search revealed six similar cases. Its seems that the arrythmogenic property of this drug is related to abnormally elevated serum levels following rapid administration.