1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1. The 1p36DS is characterized by typical craniofacial features, developmental delay/intellectual disability, hypotonia, epilepsy, cardiomyopathy/congenital heart defect, brain abnormalities, hearing loss, eyes/vision problem, and short stature. The aim of our study was to (1) evaluate the incidence of the 1p36DS in the French population compared to 22q11.2 deletion syndrome and trisomy 21; (2) review the postnatal phenotype related to microarray data, compared to previously publish prenatal data. Thanks to a collaboration with the ACLF (Association des Cytogénéticiens de Langue Française), we have collected data of 86 patients constituting, to the best of our knowledge, the second-largest cohort of 1p36DS patients in the literature. We estimated an average of at least 10 cases per year in France. 1p36DS seems to be much less frequent than 22q11.2 deletion syndrome and trisomy 21. Patients presented mainly dysmorphism, microcephaly, developmental delay/intellectual disability, hypotonia, epilepsy, brain malformations, behavioral disorders, cardiomyopathy, or cardiovascular malformations and, pre and/or postnatal growth retardation. Cardiac abnormalities, brain malformations, and epilepsy were more frequent in distal deletions, whereas microcephaly was more common in proximal deletions. Mapping and genotype-phenotype correlation allowed us to identify four critical regions responsible for intellectual disability. This study highlights some phenotypic variability, according to the deletion position, and helps to refine the phenotype of 1p36DS, allowing improved management and follow-up of patients.

Pediatric Approach to Trauma Treatment and Resilience-A Novel Relationship-Based Curriculum and Approach to Train Pediatric Professionals to Provide Trauma-Informed Care.

Information and techniques from evidence-based, trauma-informed mental health treatments, resilience and parenting literature and supporting evidence from neuroscience were adapted to provide pediatricians a practical approach and tools to promote resilience and respond to trauma symptoms.

Barriers to Health Care for Latino Youths During Community Reentry After Incarceration: Los Angeles County, California, 2016-2018.

Objectives. To examine barriers to health care for Latino youths during reentry after incarceration.Methods. For this in-depth qualitative study, we conducted 69 semistructured interviews with 22 Latino youths and their parents at 1, 3, and 6 months after incarceration. We performed thematic analysis of interview transcripts, from which a preliminary conceptual model emerged describing barriers to care for Latino youths. We then conducted trajectory analyses of dyadic youth-caregiver pairs to test the conceptual model. We collected longitudinal interviews in Los Angeles County, California, from November 2016 to March 2018.Results. Beyond recognized stressors experienced by youths during reentry, most of which families related to poverty and neighborhood environment, Latino youths also experienced cultural barriers to care (i.e., self-reliance and pride, religiosity and reproductive care as taboo, preference for home remedies, language) as well as barriers to care because of undocumented status (i.e., fear of deportation, job insecurity).Conclusions. Reentry is challenging, and Latino youths face additional barriers to care during reentry related to culture and legal status, but have cultural strengths. Increased access to culturally sensitive, safety-net health care, regardless of immigration status, may reduce health inequalities for Latino youths undergoing reentry.

Parent and Provider Perspectives on Recently Incarcerated Youths' Access to Healthcare During Community Reentry.

Incarcerated youth have numerous healthcare needs, yet access to healthcare following community reentry is limited. Healthcare and juvenile justice providers, along with parents, strongly influence access to care for youth undergoing reentry. However, their perspectives are often missing from the literature. We examined parent and provider perspectives on youths' access to healthcare during community reentry. We conducted 72 longitudinal interviews with parents of youth undergoing reentry (n= 34 parents) and cross-sectional interviews with health and juvenile justice providers (n=20 providers). We performed inductive analysis of interview transcripts to identify the major themes related to access to healthcare during reentry. Respondents identified key leverage points that influence access to healthcare along the spectrum of individual, community, and policy-level factors. Parent and provider perspectives demonstrated substantial overlap, strongly concurring on the essential role of parents in linking youth to care and the external factors that limit parents' ability to connect youth to care. However, providers discussed parents not buying-in to treatment plans as a barrier to care, and parents uniquely described feeling powerless when their children were not motivated to receive care. Parents and providers agreed on priority solutions for improving care access during reentry. Immediate solutions centered on: 1) increasing reliability and continuity of providers, 2) providing free or low-cost transportation to healthcare visits, and 3) eliminating gaps in Medicaid coverage post-incarceration. Findings also signal the broader need to pursue strategies that increase family engagement in healthcare during reentry. In doing so, health and juvenile justice providers can partner with parents to overcome barriers to healthcare for youth during reentry.

The Role of Parent Engagement in Overcoming Barriers to Care for Youth Returning Home After Incarceration.

We sought to understand the role of parent engagement in overcoming barriers to care for youth re-entering the community following incarceration. For this mixed methods study, we conducted quantitative surveys on healthcare needs and access with youth (n = 50) at 1-month post-incarceration, and semi-structured interviews with a subset of these youth (n = 27) and their parents (n = 34) at 1, 3, and 6-months post-incarceration (total 94 interviews). Differences by race/ethnicity and gender were assessed using Chi square test of proportions. We performed thematic analysis of interview transcripts to examine the role of parent engagement in influencing youths' access to healthcare during reentry. Most youth were from racial/ethnic minority groups and reported multiple ACEs. Girls, compared to boys, had higher ACE scores (p = 0.03), lower family connectedness (p = 0.03), and worse general health (p = 0.02). Youth-identified barriers to care were often parent-dependent and included lack of: affordable care (22%), transportation (16%), and accompaniment to health visits (14%). Two major themes emerged from the qualitative interviews: (1) parents motivate youth to seek healthcare during reentry and (2) parents facilitate the process of youth seeking healthcare during reentry. Parents are instrumental in linking youth to healthcare during reentry, dispelling prevailing myths that parents of incarcerated youth are inattentive and that youth do not want their help. Efforts that support and enhance parent engagement in access to care during reentry, such as by actively involving parents in pre-release healthcare planning, may create stronger linkages to care.

Pediatric patient portal use in one health system.

OBJECTIVE: The study sought to assess, for children in one large health system, (1) characteristics of active users of the patient portal (≥1 use in prior 12 months), (2) portal use by adolescents, and (3) variations in pediatric patient portal use. MATERIALS AND METHODS: We analyzed data from the electronic health record regarding pediatric portal use during 2017-2018 across a health system (39 871 pediatric patients). RESULTS: Altogether, 63.5% of pediatric patients were active portal users. Children (proxies) who were boys, privately insured, white, and spoke English were more likely to be active users. Common uses involved messaging with physicians, medications, allergies, letters, and laboratory results. By 15 years of age, >50% of adolescents used the portal by themselves (without a proxy). Pediatric portal use varied widely across practices. DISCUSSION: Pediatric or adolescent portal use is quite high, but large variations exist. CONCLUSION: Use of the portal for pediatric care may reflect varying pediatric patient engagement.

My Child's Journey Home: Perspectives of Adult Family Members on the Separation and Reunification of the "Disappeared" Children of El Salvador.

This article explores family separation and reunification of the disappeared Salvadoran children separated from their families during El Salvador's civil war (1980-1992) from the perspectives of adult relatives. During separation, adult relatives experienced an "unresolvable loss." Following reunion, families experienced an immediate relief that was often accompanied by an "ambiguous reunification." Emotions were especially complicated and painful when the separation had been a "forced choice" by the parent under coercive wartime political conditions. Adoptive parents strongly influenced reunification. Findings suggest that disappeared children and biological and adoptive family members need psycho-social support throughout separation and reunification.

[Propofol Infusion Syndrome in a refractory epileptic status case]. / Síndrome por Infusión de Propofol en un caso de estatus epiléptico refractario.

INTRODUCTION: Propofol Infusion Syndrome (PRIS) is a rare but potentially lethal adverse reaction secondary to the continuous intravenous infusion of this drug. The diagnosis is based on the com bination of metabolic acidosis, rhabdomyolysis, hyperkalemia, hepatomegaly, renal failure, hyperli pidemia, arrhythmias, and rapidly progressive heart failure. OBJECTIVE: To report a case of PRIS and literature review. CLINICAL CASE: A 6-year-old female patient with history of epilepsy secondary to large malformation of cortical development of the right hemisphere. The patient presented a refractory status epilepticus that required admission to the Intensive Care Unit for life support and treatment, which included continuous intravenous infusion of propofol at 10 mg/kg/h. She developed hemo dynamic instability, and after 24 h of treatment an increase of creatine phosphokinase (CPK) levels, metabolic acidosis and elevated lactacidemia were observed. After ruling out other causes, PRIS was diagnosed; therefore, the drug was suspended, achieving hemodynamic stabilization after 24 hours. DISCUSSION: The diagnosis of PRIS is complex and should be considered in patients who are receiving this drug and present metabolic acidosis or heart failure. The factors that most influence mortality are the cumulative dose of the drug, the presence of fever, and cranial brain injury. In the case described, the patient received a dose higher than 4 mg/kg/h, which is the maximum recommended dose, and responded favorably 12 hours after stopping the drug.

Síndrome por Infusión de propofol en un caso de estatus epiléptico refractario / Propofol infusion syndrome in a refractory epileptic status case

INTRODUCCIÓN: El síndrome por infusión de propofol (SIP) es una reacción adversa poco frecuente, pero potencialmente letal descrita por la utilización de dicho fármaco en infusión intravenosa (IV) continua. El diagnóstico se basa en la combinación de acidosis metabólica, rabdomiolisis, hiperkalemia, hepatomegalia, insuficiencia renal, hiperlipidemia, arritmias e insuficiencia cardiaca rápida mente progresiva. OBJETIVO: Presentación de un caso clínico de SIP y revisión de literatura. CASO CLÍNICO: Paciente femenino de 6 años de edad con antecedentes de epilepsia secundaria a extensa alteración del desarrollo cortical hemisférico derecho. Presentó estatus epiléptico refractario que requirió ingreso a Unidad de Cuidados Intensivos para soporte vital y tratamiento, el que incluyó como terapia de tercera línea infusión intravenosa continua de propofol en dosis progresivas hasta alcanzar una tasa 10 mg/kg/h. Cursó con compromiso hemodinámico y a las 24 h de iniciado el tratamiento se observó alza de la creatinifosfokinasa (CK), acidosis metabólica y lactacidemia elevada, y luego de descartar otras causas se planteó el diagnóstico de SIP por lo que se suspendió la droga, logrando estabilización hemodinámica a las 24 h. DISCUSIÓN: El diagnóstico de SIP es complejo, se debe considerar en pacientes que estén recibiendo el fármaco y presenten acidosis metabólica o insuficiencia cardiaca. Los factores que más influyen en la mortalidad son la dosis acumulativa de la droga, la presencia de fiebre y lesión encéfalo craneana. En el caso descrito la paciente recibió una dosis mayor a 4 mg/ kg/h que es la dosis máxima recomendada y respondió favorablemente luego de 12 h después de la suspensión del fármaco.

INTRODUCTION: Propofol Infusion Syndrome (PRIS) is a rare but potentially lethal adverse reaction secondary to the continuous intravenous infusion of this drug. The diagnosis is based on the com bination of metabolic acidosis, rhabdomyolysis, hyperkalemia, hepatomegaly, renal failure, hyperli pidemia, arrhythmias, and rapidly progressive heart failure. OBJECTIVE: To report a case of PRIS and literature review. CLINICAL CASE: A 6-year-old female patient with history of epilepsy secondary to large malformation of cortical development of the right hemisphere. The patient presented a refractory status epilepticus that required admission to the Intensive Care Unit for life support and treatment, which included continuous intravenous infusion of propofol at 10 mg/kg/h. She developed hemo dynamic instability, and after 24 h of treatment an increase of creatine phosphokinase (CPK) levels, metabolic acidosis and elevated lactacidemia were observed. After ruling out other causes, PRIS was diagnosed; therefore, the drug was suspended, achieving hemodynamic stabilization after 24 hours. DISCUSSION: The diagnosis of PRIS is complex and should be considered in patients who are receiving this drug and present metabolic acidosis or heart failure. The factors that most influence mortality are the cumulative dose of the drug, the presence of fever, and cranial brain injury. In the case described, the patient received a dose higher than 4 mg/kg/h, which is the maximum recommended dose, and responded favorably 12 hours after stopping the drug.

[Strategic decisions in public psychiatric institutions: a proposed method for resource analysis and allocation]. / La décision stratégique en établissement public de psychiatrie : proposition de méthode pour l'analyse et l'allocation des moyens.

Because of its sector-based organization and extra-hospital care, public psychiatry has a unique position in healthcare. This paper describes the tools and procedures used to analyze and allocate the resources of the "Centre Hospitalier Alpes-Isère", a hospital serving a catchment population of 530,000 adults. A consensus-based approach was used to validate the selected indicators and included the participation of a geographer. Five levels of resource allocation were identified and classified using a decision tree. At each level, the relevant authorities and criteria were identified as key components of the decision-making process. This paper describes the first three levels of care provision. Focusing on adult care, a comparative assessment of the resources allocated to general psychiatric care and specialist care was conducted, in addition to a comparative assessment of the resources allocated to each of the hospital's four local centers. Geographical accessibility to extramural facilities was also assessed. A study of the characteristics of each general psychiatry clinic revealed significant disparities. The paper highlights several issues: the poor knowledge of psychiatric epidemiological data relating to the population within the catchment area, the difficulty of assessing non-consolidated data or indicators from multiple sources, and the limited and partial nature of geographical data for characterizing and evaluating health care in the hospital's peripheral clinics. Several studies are currently underway to assess the operational effectiveness of the tools and procedures used to analyze and allocate resources.

Off-label prescribing in a French hospital.

OBJECTIVE: In contrast to paediatrics patients, data concerning the extent of off-label prescribing for adult patients are limited. The aim of our study was to investigate the frequency of off-label drug use for adult patients in a French general hospital. METHOD: The study was conducted on a Wednesday in November 2004. Prescribing was prospectively assessed on the basis of conformity with the marketing authorizations. RESULTS: A total of 1341 prescriptions for 192 hospitalized patients were analysed. Twenty three per cent of the prescriptions were off-label. Among all patients, 70% received at least one off-label medicine. Most off-label prescriptions were related to an unapproved indication (75%). The main other reasons were dosage (14%) and dosing schedule (9%). Anti-thrombotic and anti-ulcer agents were found on more than 40% of the off-label prescriptions. CONCLUSION: Off-label prescriptions occur frequently in the hospital and often alternatives with the proper marketing authorizations are available. An increased involvement of hospital pharmacists should reduce the incidence of off-label prescribing and thus contribute to patient safety and possibly cost reduction.

Dystonia and parkinsonism in GM1 type 3 gangliosidosis.

GM1 gangliosidosis is due to beta-galactosidase deficiency. Only patients with type 3 disease survive into adulthood and develop movement disorders. Clinical descriptions of this form are rare, particularly in non-Japanese patients. We describe four new patients and systematically analyze all previous reports found by a literature search and contacts with the authors for additional information. Generalized dystonia remained the predominant feature throughout the disease course and was often associated with akinetic-rigid parkinsonism. GM1 gangliosidosis must be considered as a cause of early-onset generalized dystonia, particularly in patients with short stature and skeletal dysplasia.