[Post-exposure prophylaxis against HIV, do we use our resources appropriately?] / Profilaxis post-exposición frente VIH, ¿utilizamos adecuadamente nuestros recursos?

OBJECTIVE: Post-exposure prophylaxis (PEP) against human immunodeficiency virus can be occupational, non-occupational or vertical transmission. The aim of our study was to analyse the indication and treatment carried out in a hospital. METHODS: Retrospective observational study that included all patients who received PEP between 2006 and 2014. The project was approved by the Committee for Ethics in Clinical Research. RESULTS: We evaluated 54 PEP, which were started at 11.8 hours' average. The antiretroviral drugs were adequately chosen, but the duration pattern did not adjusted to the recommendations published at that time. Tolerance was good, being gastrointestinal symptoms the most frequent adverse effects; only once was necessary to replace the pattern. There were usual losses during follow up, reaching in some subgroups 50%. CONCLUSIONS: Indication and choice of drugs were adequate in the three kinds of contact risks, but monitoring should improve.

A practical approach to incidental findings in neuroimaging research.

OBJECTIVE: We describe the systematic approach to incidental findings (IFs) used at the Mind Research Network (MRN) where all MRI scans receive neuroradiologist interpretation and participants are provided results. METHODS: From 2004 to 2011, 8,545 MRI scans were acquired by 45 researchers. As mandated by MRN's external institutional review board, all structural sequences were evaluated by a clinical neuroradiologist who generated a report that included recommendations for referral if indicated. Investigators received a copy of their participants' reports, which were also mailed to participants unless they specifically declined. To better understand the impact of the radiology review process, a financial analysis was completed in addition to a follow-up phone survey to characterize participant perceptions regarding receiving their MRI scan results. RESULTS: The radiologist identified IFs in 34% of the 4,447 participants. Of those with IFs (n = 1,518), the radiologist recommended urgent or immediate referral for 2.5% and routine referral for 17%. For 80.5%, no referral was recommended. Estimated annual cost for this approach including support for the neuroradiologist, medical director, and ancillary staff is approximately $60,000 or $24/scan. The results of the retrospective phone survey showed that 92% of participants appreciated receiving their MRI report, and the majority stated it increased their likelihood of volunteering for future studies. CONCLUSIONS: Addressing IFs in a cost-effective and consistent manner is possible by adopting a policy that provides neuroradiology interpretation and offers participant assistance with clinical follow-up when necessary. Our experience suggests that an ethical, institution-wide approach to IFs can be implemented with minimal investigator burden.

Síndrome de «cri du chat». Comunicación de un nuevo caso y revisión / Cri du chat syndrome: report of a new case and review

El síndrome de cri du chat, o monosomía 5p-, es una rara anomalía genética debida a la deleción de un segmento del brazo corto del cromosoma 5, que muestra una gran variabilidad fenotípica y citogenética. Su incidencia varía de 1/15.000 a 1/50.000 recién nacidos vivos, aunque es posible que su frecuencia sea mayor. Se comunica un nuevo caso neonatal con algunas de las características fenotípicas del síndrome, con una deleción en 5p15.2 por translocación materna, que precisó técnicas moleculares para su confirmación; asimismo, se revisan los aspectos clínicos y citogenéticos más interesantes de esta afección

Cri-du-chat syndrome, or monosomy 5p-, is an uncommon genetic anomaly, caused by the deletion of a segment of the short arm of chromosome 5, that exhibits a wide phenotypic and cytogenetic variability. The incidence ranges from 1/15,000 to 1/50,000 live-born infants, although the frequency may be higher. We report the case of a newborn infant with some of the phenotypic characteristics associated with the syndrome and a deletion in 5p15.2 due to a maternal translocation, which required confirmation by molecular techniques. We also review the more interesting clinical and cytogenetic aspects of this condition

Clinical features of pathological gambling in an addictions treatment cohort.

This study examined the prevalence and descriptive psychopathology of pathological gambling in a heterogeneous treatment sample of 372 substance users. About 14% of male participants and 10% of female participants were identified as presumptive pathological gamblers (PGs) on the South Oaks Gambling Screen (SOGS). The authors contrasted 49 PGs with 323 participants who were not pathological gamblers (NPGs) on a host of variables measuring premorbid risk, pathological patterns of substance use, consequences of use, and psychiatric comorbidity. PGs showed more disturbance than NPGs on some measures of premorbid risk, pathological substance use, social consequences of use, and psychiatric comorbidity. Gambling status may be an important comorbid condition in addictions treatment settings and a significant covariate in research.

Toward the DSM-V: the Withdrawal-Gate Model versus the DSM-IV in the diagnosis of alcohol abuse and dependence.

The Diagtnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV; American Psychiatric Association, 1994) classifies as dependent many cases of mild alcohol problems. DSM-IV diagnoses have modest relationships with predictive and some concurrent validators and often improperly sequence the onset of abuse versus dependence, perhaps due to insufficient emphasis on physiological features. Testing reliability, syndrome prevalence, syndrome sequencing, and concurrent and predictive validity, this study contrasted the DSM-IV with the Withdrawal-Gate Model (WGM), in which alcohol withdrawal is necessary and sufficient for the dependence diagnosis. Clinical samples of adults (baseline n = 318) and adolescents (baseline n = 214) meeting abuse or dependence were assessed for DSM-IV alcohol symptoms and external measures of problem severity and reinterviewed at 6 (adults) and 12 months (adults and adolescents). Among DSM-IV dependent cases, the WGM shifted 32% of adults and 80% of adolescents to the abuse category, making both categories more symptomatically severe, but had a negligible effect on the prevalence of total alcohol diagnoses. The WGM was more reliable than the DSM-IV and temporally sequenced abuse before dependence in a greater number of cases. The WGM was superior to the DSM-IV in concurrent and predictive validity on most measures. Future diagnostic systems may be more reliable and valid if they require evidence of withdrawal for substance dependence.

On the occurrence of BBB syndrome and hereditary sensory motor neuropathy in the same family.

We report the occurrence of the BBB syndrome and type 1 hereditary sensorimotor neuropathy (HSMN) in the same family: both disorders concurred in two brothers and a third presented only type 1 HSMN. The clinical findings in this family support the idea that the BBB and the G syndromes are variable manifestations of the same entity. The hypothesis that the BBB syndrome and type 1 HSMN might represent a contiguous gene syndrome is, however, not fully supported.