Spectral Domain Optical Coherence Tomography in Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations: A Monogenic Small Vessel Disease.

BACKGROUND: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a monogenic small vessel disease caused by mutations in TREX1. Several organs, including retina and brain, are affected. Analyzing retinal anatomy is increasingly used as a biomarker for ophthalmological and neurological disorders (due to the shared embryological origin of retina and brain). Optical coherence tomography (OCT) provides a noninvasive cross-sectional visualization of optic disc and macula. We aimed to use OCT to investigate retinal layer thickness in RVCL-S. METHODS: Cross-sectional, 17 TREX1 mutation carriers (34 eyes) and 9 controls (18 eyes) underwent comprehensive ophthalmologic assessment followed by spectral domain OCT for measuring peripapillary retinal nerve fiber layer (pRNFL) thickness and total macular volume (TMV). Secondary outcomes included measuring thickness of individual macular retinal layers and peripapillary sectors. Findings were analyzed using generalized estimating equations to account for intereye correlation. RESULTS: TREX1 mutation carriers had decreased pRNFL thickness (median [interquartile range] 76 [60-99] vs 99 [87-108] µm, P < 0.001) and TMV (8.1 [7.4-8.5] vs 8.7 [8.4-8.8] mm3, P = 0.006) compared with controls. With the exception of the temporal sector, the thickness of all peripapillary sectors was decreased in TREX1 mutation carriers. Ganglion cell layer (30 [22-37] vs 39 [36-41] µm, P < 0.001) and inner plexiform layer (27 [24-34] vs 34 [31-35], P = 0.001) were thinner in TREX1 mutation carriers. Notably, in 9 of 12 eyes with normal funduscopic examination, retinal thinning was already detected. CONCLUSIONS: RVCL-S, which may serve as a vascular retinopathy model, is associated with retinal thinning in the peripapillary and macular area. OCT findings can potentially serve as early biomarkers for RVCL-S and other vascular retinopathies.

The accuracy of MRI for the diagnosis of ramp lesions.

OBJECTIVES: To assess the diagnostic accuracy of MRI in diagnosing ramp lesions in patients with an acute lesion of the anterior cruciate ligament (ACL). MATERIALS AND METHODS: All consecutive patients over 15 years of age who underwent surgical repair of the ACL at a single hospital between January and May 2019, with MRI data available, were included in this retrospective study, except patients who had previous knee surgery. The gold standard was arthroscopic evaluation. Two trained radiologists with 5 and 14 years of experience did a blinded review of the MRIs. The following pathological signs were studied: complete fluid filling between the capsule and the posterior horn of the medial meniscus, irregular appearance of the posterior wall of the medial meniscus, oedema of the capsule, fluid hyperintensity in contact with the medial meniscus and anterior subluxation of the medial meniscus. Logistic regressions in univariate then multivariate analysis were carried out and measures of diagnostic accuracy and interobserver agreement were calculated with R software (version 3.6). RESULTS: Fifty-seven patients were included. Twelve had a ramp lesion diagnosed by arthroscopy (21%). Only complete fluid hyperintensity between the posterior horn of the medial meniscus and the capsule was significantly associated with ramp lesions (P value < 0.01). The diagnostic accuracy of this specific sign was moderate, with a specificity of 84%, sensitivity of 75%, PPV of 56%, NPV of 93% and a good level of inter-observer agreement (k = 0.79). CONCLUSION: The complete fluid filling is the only significant pathological MRI sign for ramp lesions, with moderate accuracy.

[Clinical profile of adolescents being treated for problematic internet use]. / Portrait Clinique des Adolescents en Traitement Pour une Utilisation Problématique d'Internet.

OBJECTIVES: This study highlights the clinical profile of adolescents having consulted with an addiction treatment center (ATC) in Québec for a problematic internet use (PIU) to develop knowledge about these specific clients and precisely target their needs relative to treatment. METHOD: The study was conducted with 80 adolescents between ages 14 and 17 (M = 15.59) who had consulted with an ACT for a PIU. Adolescents have participated in an interview documenting internet use patterns and their consequences, mental health disorder co-occurrence, and family and social relationships. RESULTS: The sample was constituted of 75 boys (93.8%) and 5 girls (6.3%), who spent an average of 55.8 hours (SD = 27.22) per week on internet for non-school or professional activities. Almost all of these youths (97.5%) presented a co-occurring mental health disorder, and more than 70% had seeked help last year for a psychological problem. Results show that 92.6% feel their internet use significantly hinders their family relationships, and 50% feel it impedes their social relationships. CONCLUSIONS: This study shows the multiple difficulties experienced by adolescents in need of a treatment for their PIU. The presence of co-occurring mental health disorders and relational difficulties among them underlines the need to develop and implement in ACTs integrated assessments and treatments that target not only online activities, but also all of life domains that can be affected by PIU. CLINICAL IMPLICATIONS: - PIU adolescents are mainly boys who report problematic use of video games. - Almost all young people who consult for PIU have comorbid mental health problems and difficulties in their relation. - The study highlights the need to offer to this clientele an integrated assessment and treatment services that target all areas of their lives who are likely to be affected, to contribute or maintain the PIU. LIMITATIONS: - This study was conducted with a convenience sample and the results are representative of young people who have visited a treatment center for addiction. The generalization of results to all adolescents with PIU is limited. - Considering that PIU are subject to cultural influence, the scope of this study is limited to populations living in a culture similar to that of Quebec and Canada.

OBJECTIFS: La présente étude dresse le profil clinique des adolescents ayant consulté un centre de traitement de la dépendance (CTD) au Québec en raison d'une utilisation problématique d'Internet (UPI) afin de développer les connaissances sur cette clientèle spécifique et de cibler avec justesse leurs besoins par rapport au traitement. MÉTHODE: L'étude est réalisée auprès de 80 adolescents âgés entre 14 et 17 ans (M = 15,59) ayant consulté un CTD pour une UPI. Les adolescents ont pris part à une entrevue qui documente les habitudes d'utilisation d'Internet et leurs conséquences, la concomitance de troubles de santé mentale, ainsi que les relations familiales et sociales. RÉSULTATS: L'échantillon est composé de 75 garçons (93,8%) et de 5 filles (6,3%), qui passaient en moyenne 55,8 heures (ET = 27,22) par semaine sur Internet pour des activités non-scolaires ou professionnelle. Près de la totalité de ces jeunes (97,5%) présente un trouble de santé mentale en concomitance et plus de 70% ont consulté dans la dernière année pour un problème psychologique. Les résultats indiquent que 92,6% estiment que leur utilisation d'internet nuit significativement à leur relation familiale et 50% à leurs relations sociales. CONCLUSIONS: Cette étude révèle les nombreuses difficultés vécues par les adolescents requérants un traitement pour leur UPI. La présence de troubles de santé mentale concomitants et de difficultés relationnelles chez ceux-ci renvoie à la nécessité de développer et implanter dans les CTD des évaluations et traitements intégrés qui ciblent non seulement les activités en ligne, mais également l'ensemble des sphères de vie pouvant être affectée par l'UPI. IMPLICATIONS CLINIQUES: ­ Les adolescents consultants pour l'UPI sont principalement des garçons qui rapportent une utilisation problématique des jeux vidéo. ­ La quasi-totalité des jeunes qui consultent pour l'UPI a en concomitance de problèmes de santé mentale et des difficultés sur le plan relationnel ­ L'étude met en évidence la nécessité d'offrir à cette clientèle des services d'évaluation et de traitement intégrés qui ciblent toutes les sphères de leur vie sont susceptibles d'être affectée, de contribuer ou de maintenir l'UPI. LIMITES: ­ Cette étude est réalisée auprès d'un échantillon de convenance et les résultats sont représentatifs des jeunes ayant consulté un centre de traitement pour la dépendance; la généralisation des résultats à l'ensemble des adolescents présentant une UPI est limitée. ­ Considérant que les manifestations de l'UPI sont sujettes à une influence culturelle, la portée de la présente étude se limite aux populations qui vivent dans une culture similaire à celle du Québec et du Canada.

Prognostic value of cardiac troponin in patients with chronic kidney disease without suspected acute coronary syndrome: a systematic review and meta-analysis.

BACKGROUND: Clinicians face uncertainty about the prognostic value of troponin testing in patients with chronic kidney disease (CKD) without suspected acute coronary syndrome (ACS). PURPOSE: To systematically review the literature on troponin testing in patients with CKD without ACS. DATA SOURCES: MEDLINE, EMBASE, and the Cochrane Central Register of Controlled Trials through May 2014. STUDY SELECTION: Studies examining elevated versus normal troponin levels in patients with CKD without ACS. DATA EXTRACTION: Paired reviewers selected articles for inclusion, extracted data, and graded strength of evidence (SOE). Meta-analyses were conducted when studies had sufficient homogeneity of key variables. DATA SYNTHESIS: Ninety-eight studies met inclusion criteria. Elevated troponin levels were associated with all-cause and cardiovascular mortality among patients receiving dialysis (moderate SOE). Pooled hazard ratios (HRs) for all-cause mortality from studies that adjusted for age and coronary artery disease or a risk equivalent were 3.0 (95% CI, 2.4 to 4.3) for troponin T and 2.7 (CI, 1.9 to 4.6) for troponin I. The pooled adjusted HRs for cardiovascular mortality were 3.3 (CI, 1.8 to 5.4) for troponin T and 4.2 (CI, 2.0 to 9.2) for troponin I. Findings were similar for patients with CKD who were not receiving dialysis, but there were fewer studies. No study tested treatment strategies by troponin cut points. LIMITATION: Studies were heterogeneous regarding assays, troponin cut points, covariate adjustment, and follow-up. CONCLUSION: In patients with CKD without suspected ACS, elevated troponin levels were associated with worse prognosis. Future studies should focus on whether this biomarker is more appropriate than clinical models for reclassifying risk of patients with CKD and whether such classification can help guide treatment in those at highest risk for death. PRIMARY FUNDING SOURCE: Agency for Healthcare Research and Quality.

Role of troponin in patients with chronic kidney disease and suspected acute coronary syndrome: a systematic review.

BACKGROUND: Patients with chronic kidney disease (CKD) have high prevalence of elevated serum troponin levels, which makes diagnosis of acute coronary syndrome (ACS) challenging. PURPOSE: To evaluate the utility of troponin in ACS diagnosis, treatment, and prognosis among patients with CKD. DATA SOURCES: MEDLINE, EMBASE, and the Cochrane Central Register of Controlled Trials through May 2014. STUDY SELECTION: Studies examining elevated versus normal troponin levels in terms of their diagnostic performance in detection of ACS, effect on ACS management strategies, and prognostic value for mortality or cardiovascular events after ACS among patients with CKD. DATA EXTRACTION: Paired reviewers selected articles for inclusion, extracted data, and graded strength of evidence (SOE). DATA SYNTHESIS: Twenty-three studies met inclusion criteria. The sensitivity of troponin T for ACS diagnosis ranged from 71% to 100%, and specificity ranged from 31% to 86% (6 studies; low SOE). The sensitivity and specificity of troponin I ranged from 43% to 94% and from 48% to 100%, respectively (8 studies; low SOE). No studies examined how troponin levels affect management strategies. Twelve studies analyzed prognostic value. Elevated levels of troponin I or troponin T were associated with higher risk for short-term death and cardiac events (low SOE). A similar trend was observed for long-term mortality with troponin I (low SOE), but less evidence was found for long-term cardiac events for troponin I and long-term outcomes for troponin T (insufficient SOE). Patients with advanced CKD tended to have worse prognoses with elevated troponin I levels than those without them (moderate SOE). LIMITATION: Studies were heterogeneous in design and in ACS definitions and adjudication methods. CONCLUSION: In patients with CKD and suspected ACS, troponin levels can aid in identifying those with a poor prognosis, but the diagnostic utility is limited by varying estimates of sensitivity and specificity. PRIMARY FUNDING SOURCE: Agency for Healthcare Research and Quality.

[Internet addiction: a descriptive clinical study of people asking for help in rehabilitation treatment center in Quebec: exploratory study]. / Tableau clinique des personnes cyberdépendantes demandant des services dans les centres publics de réadaptation en dépendance au Québec : étude exploratoire.

UNLABELLED: To date, there is no consensus on the diagnostic criteria for Internet addiction (Hinic, 2011; Tonioni & coll., 2012; Weinstein & Lejoyeux, 2010). Nonetheless, some people consider themselves cyberdependent and request treatment services in the addiction rehabilitation centers (ARC) of the province of Quebec. These admissions have led the Health and Social Services Agency of Montreal to ask for the realization of a descriptive study on Internet addiction. OBJECTIVES: 1) Describe the socio-demographical characteristics of cyberdependent individuals receiving treatment in the ARC; 2) Document their associated problems, such as problems related to alcohol and drug abuse, gambling, self-esteem, and symptoms of depression and anxiety. METHODOLOGY: The study was conducted in eight ARC's of the province of Quebec. A convenience sample of 57 people was recruited over a period of 24 months, from 2010 to 2012. To participate in this study, individuals had to be 18 years or older, identify themselves as cyberdependent, and request help for an Internet addiction problem in a public ARC. The Internet Addiction Test (Young, 1998), in its validated French version (Khazaal & coll., 2008), was used to assess the severity of Internet use habits. The associated problems were assessed using the following questionnaires: the Beck Anxiety Inventory (Beck, Epstein, Brown & Steer, 1988); the Beck Depression Inventory, in its validated French version (Bourque & Beaudette, 1982); the DÉBA-Alcool/Drogues/Jeu (Dépistage-évaluation du besoin d'aide), an instrument used to screen and assess the need for help in problems related to alcohol, drugs, and gambling (Tremblay & Blanchette-Martin, 2009), and the Rosenberg's Self-Esteem Scale (Rosenberg, 1965). RESULTS: Fifty-seven people agreed to participate in the study. A large majority of these cyberdependent individuals were male (88%), the mean age was 30 years old, had low incomes and were living with their parents. They consulted following the pressure of their entourage and reported many consequences due to their Internet addiction problem.They spent, on average, 65.8 hours per week on the Internet and reported having several problematic applications. Amongst these problematic applications, the most frequently reported were the role playing game (MMORPG) (57.8%), the streaming on entertainment sites (35.1%), and the chat rooms (29.8%). Regarding the self-esteem scale, 66.6% of participants presented a very low or low self-esteem, while 21.1% presented an above average self-esteem. According to Beck Depression and Anxiety Inventories, 3.5% (n=2) of the sample reached the clinical threshold for depression, while 7.5% (n=4) reached it for anxiety. Almost half (45.6%) of the participants were taking psychotropic medication for a mental health problem, and 33.3% had a chronic physical health problem. CONCLUSION: This study highlights the characteristics of a still unknown group in the population, that of cyberdependent people. Individuals having an Internet addiction problem live significant consequences due to the loss of control on their Internet use. In addition, when they are admitted into treatment, even if the subjective psychological distress is not always high, participants present a complex clinical profile, where comorbidity is the rule rather than the exception. We believe that the current data show enough similarities with other addictive disorders, to allow clinicians to work taking into consideration their experience with other addictive behaviours.

Can novel non-invasive autonomic tests help discriminate between pure autonomic failure and multiple system atrophy?

BACKGROUND: Pure autonomic failure (PAF) and multiple system atrophy (MSA) are rare disorders causing severe autonomic failure. Their initially similar clinical presentation may lead to years of diagnostic difficulties. Improving the differentiation would have an important impact on patients and families in view of better prediction of disease progression. OBJECTIVE: To investigate whether several new non-invasive autonomic tests are beneficial in discriminating between PAF and MSA. METHODS: Patients and controls underwent two tests examining the autonomic innervation of the skin (Sudoscan and water-induced skin wrinkling) and one test measuring retinal nerve fiber layer thickness in the eye. RESULTS: The skin vasomotor tests yielded differences between the disease and control groups, but did not discriminate between PAF and MSA. No differences in retinal nerve fiber layer thickness were found between the groups. CONCLUSION: The tests applied in this study may help to confirm autonomic failure but did not support the differential diagnosis between PAF and MSA.

[Ocular syphilis: a warning sign of an HIV infection]. / Oculaire syfilis: een signaal voor hiv-infectie.

A 29-year-old male presented at the ER with a red and painful left eye with sudden and progressive loss of vision within a week. His visual acuity was 1/60. Slit lamp investigation showed inflammatory cells throughout the anterior chamber and vitreous body, and a hyperaemic and swollen optic disc with retinal lesions, indicating a panuveitis combined with multifocal chorioretinitis. Due to the progressive nature, an infectious cause was suspected: positive syphilis serology and HIV serology confirmed this. The diagnosis of ocular syphilis was a first manifestation of a syphilis infection. Moreover, this was a warning sign for an associated HIV infection. Approximately 40% of all syphilis cases in the Netherlands are co-infected with HIV. Due to the high co-infection rate, HIV should always be considered when diagnosing ocular syphilis. The ocular syphilis was treated as a neurosyphilis with 18 million units of penicillin per day, and the patient's vision eventually returned to 0.4.

Face graft? Extrapolation of facial allotransplantation to children.

The possibility to imagine a vascularized composite allotransplantation for disfigured children is felt more critical than for adults non on technical point of view but in terms of indications and justifications. The question is not about surgery. It is related to the pathologies themselves for which transplant could be suitable. Moreover the procurement of face transplant will be more difficult because of immunologic criteria but also age and phototype. Specificity of the newborn malformative face is usually not only a question of tissue defect. It is reasonably not an indication for VCA. It should be added that nothing is known about the future of transplantation in terms of duration but also morbidities due to immunosuppression. Indications are rather negative. To rise the question of VCA for children has a double benefit. The first is to point out that surgical innovation often arise from a non imaginable or non imagined clinical situation. The second is the question of VCA in newborn regarding the tolerance.