Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.

BACKGROUND: Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals with PMS also have epilepsy or seizures, with a wide range of types and ages of onset. Investigating the impact of seizures on intellectual and adaptive functioning for PMS is a primary concern for caregivers and is important to understanding the natural history of this syndrome. METHODS: We report on results from 98 individuals enrolled in a prospective, longitudinal study. We detailed seizure frequency, type, and age of onset, and we analyzed seizure occurrence with best estimate IQ, adaptive functioning, clinical features, and genotype. We conducted multiple linear regression analyses to assess the relationship between the presence of seizures and the Vineland Adaptive Behavior Scale, Second Edition (VABS-II) Adaptive Behavior Composite score and the best estimate full-scale IQ. We also performed Chi-square tests to explore associations between seizure prevalence and genetic groupings. Finally, we performed Chi-square tests and t-tests to explore the relationship between seizures and demographic features, features that manifest in infancy, and medical features. RESULTS: Seizures were present in 41% of the cohort, and age of onset was widely variable. The presence of seizures was associated with significantly lower adaptive and intellectual functioning. Genotype-phenotype analyses were discrepant, with no differences in seizure prevalence across genetic classes, but with more genes included in deletions of participants with 22q13 deletions and seizures compared to those with 22q13 deletions and no seizures. No clinical associations were found between the presence of seizures and sex, history of pre- or neonatal complications, early infancy, or medical features. In this cohort, generalized seizures were associated with developmental regression, which is a top concern for PMS caregivers. CONCLUSIONS: These results begin to eludicate correlates of seizures in individuals with PMS and highlight the importance of early seizure management. Importantly, presence of seizures was associated with adaptive and cognitive functioning. A larger cohort might be able to identify additional associations with medical features. Genetic findings suggest an increased capability to realize genotype-phenotype relationships when deletion size is taken into account.

Editorial: Can Physical Health Conditions in Childhood Predict Attention-Deficit/Hyperactivity Disorder Symptoms in Late Adolescence?

In this issue of the Journal, Reed et al.1 present compelling data on the cumulative effect that certain non-psychiatric health conditions, grouped by clusters according to physiologic mechanisms, could have on symptoms of attention-deficit/hyperactivity disorder (ADHD) in late adolescence. The study leverages data collected through the Millennium Cohort Study (MCS). The MCS is valuable to characterize longitudinal associations, as it follows the development of a well-characterized, population-representative sample of more than 19,000 individuals born in the United Kingdom (UK) between 2000 and 2002.2,3 At the time of the study, 7 data sweeps had been conducted between 9 months and 17 years of age. Importantly, and as has been previously done with data collected through the MCS, standardized weights were applied to account for missing data from groups that are more likely to withdraw (eg, participants from disadvantaged backgrounds). As such, the sample represents the general UK population.

Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome.

BACKGROUND: Phelan-McDermid syndrome (PMS) is caused by haploinsufficiency of the SHANK3 gene and is characterized by global developmental delays and autism spectrum disorder (ASD). Based on several converging lines of preclinical and clinical evidence supporting the use of insulin-like growth factor-1 (IGF-1) in PMS, this study aims to follow-up a previous pilot study with IGF-1 to further evaluate this novel therapeutic for core symptoms of ASD in children with PMS. METHODS: Ten children aged 5-9 with PMS were enrolled. Participants were randomized to receive IGF-1 or placebo (saline) using a 12-week, double-blind, crossover design. Efficacy was assessed using the primary outcome of the Aberrant Behavior Checklist-Social Withdrawal (ABC-SW) subscale as well as secondary outcome measures reflecting core symptoms of ASD. To increase power and sample size, we jointly analyzed the effect of IGF-1 reported here together with results from our previous controlled trail of IGF-1 in children with PMS (combined N = 19). RESULTS: Results on the ABC-SW did not reach statistical significance, however significant improvements in sensory reactivity symptoms were observed. In our pooled analyses, IGF-1 treatment also led to significant improvements in repetitive behaviors and hyperactivity. There were no other statistically significant effects seen across other clinical outcome measures. IGF-1 was well tolerated and there were no serious adverse events. LIMITATIONS: The small sample size and expectancy bias due to relying on parent reported outcome measures may contribute to limitations in interpreting results. CONCLUSION: IGF-1 is efficacious in improving sensory reactivity symptoms, repetitive behaviors, and hyperactivity  in children with PMS. Trial registration NCT01525901.

Visual Evoked Potential Abnormalities in Phelan-McDermid Syndrome.

OBJECTIVE: The current study used visual evoked potentials (VEPs) to examine excitatory and inhibitory postsynaptic activity in children with Phelan-McDermid syndrome (PMS) and the association with genetic factors. PMS is caused by haploinsufficiency of SHANK3 on chromosome 22 and represents a common single-gene cause of autism spectrum disorder (ASD) and intellectual disability. METHOD: Transient VEPs were obtained from 175 children, including 31 with PMS, 79 with idiopathic ASD, 45 typically developing controls, and 20 unaffected siblings of children with PMS. Stimuli included standard and short-duration contrast-reversing checkerboard conditions, and the reliability between these 2 conditions was assessed. Test-retest reliability and correlations with deletion size were explored in the group with PMS. RESULTS: Children with PMS and, to a lesser extent, those with idiopathic ASD displayed significantly smaller amplitudes and decreased beta and gamma band activity relative to TD controls and PMS siblings. Across groups, high intraclass correlation coefficients were obtained between standard and short-duration conditions. In children with PMS, test-retest reliability was strong. Deletion size was significantly correlated with P60-N75 amplitude for both conditions. CONCLUSION: Children with PMS displayed distinct transient VEP waveform abnormalities in both time and frequency domains that might reflect underlying glutamatergic deficits that were associated with deletion size. A similar response pattern was observed in a subset of children with idiopathic ASD. VEPs offer a noninvasive measure of excitatory and inhibitory neurotransmission that holds promise for stratification and surrogate endpoints in ongoing clinical trials in PMS and ASD.

Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study.

BACKGROUND: The current study used eye tracking to investigate attention and recognition memory in Phelan-McDermid syndrome (PMS), a rare genetic disorder characterized by intellectual disability, motor delays, and a high likelihood of comorbid autism spectrum disorder (ASD). Social deficits represent a core feature of ASD, including decreased propensity to orient to or show preference for social stimuli. METHODS: We used a visual paired-comparison task with both social and non-social images, assessing looking behavior to a novel image versus a previously viewed familiar image to characterize social attention and recognition memory in PMS (n = 22), idiopathic ASD (iASD, n = 38), and typically developing (TD) controls (n = 26). The idiopathic ASD cohort was divided into subgroups with intellectual disabilities (ID; developmental quotient < 70) and without (developmental quotient > 70) and the PMS group into those with and without a co-morbid ASD diagnosis. RESULTS: On measures of attention, the PMS group with a comorbid ASD diagnosis spent less time viewing the social images compared to non-social images; the rate of looking back and forth between images was lowest in the iASD with ID group. Furthermore, while all groups demonstrated intact recognition memory when novel non-social stimuli were initially presented (pre-switch), participants with PMS showed no preference during the post-switch memory presentation. In iASD, the group without ID, but not the group with ID, showed a novelty preference for social stimuli. Across indices, individuals with PMS and ASD performed more similarly to PMS without ASD and less similarly to the iASD group. CONCLUSION: These findings demonstrate further evidence of differences in attention and memory for social stimuli in ASD and provide contrasts between iASD and PMS.

Intranasal Oxytocin in Children and Adolescents with Autism Spectrum Disorder.

BACKGROUND: Experimental studies and small clinical trials have suggested that treatment with intranasal oxytocin may reduce social impairment in persons with autism spectrum disorder. Oxytocin has been administered in clinical practice to many children with autism spectrum disorder. METHODS: We conducted a 24-week, placebo-controlled phase 2 trial of intranasal oxytocin therapy in children and adolescents 3 to 17 years of age with autism spectrum disorder. Participants were randomly assigned in a 1:1 ratio, with stratification according to age and verbal fluency, to receive oxytocin or placebo, administered intranasally, with a total target dose of 48 international units daily. The primary outcome was the least-squares mean change from baseline on the Aberrant Behavior Checklist modified Social Withdrawal subscale (ABC-mSW), which includes 13 items (scores range from 0 to 39, with higher scores indicating less social interaction). Secondary outcomes included two additional measures of social function and an abbreviated measure of IQ. RESULTS: Of the 355 children and adolescents who underwent screening, 290 were enrolled. A total of 146 participants were assigned to the oxytocin group and 144 to the placebo group; 139 and 138 participants, respectively, completed both the baseline and at least one postbaseline ABC-mSW assessments and were included in the modified intention-to-treat analyses. The least-squares mean change from baseline in the ABC-mSW score (primary outcome) was -3.7 in the oxytocin group and -3.5 in the placebo group (least-squares mean difference, -0.2; 95% confidence interval, -1.5 to 1.0; P = 0.61). Secondary outcomes generally did not differ between the trial groups. The incidence and severity of adverse events were similar in the two groups. CONCLUSIONS: This placebo-controlled trial of intranasal oxytocin therapy in children and adolescents with autism spectrum disorder showed no significant between-group differences in the least-squares mean change from baseline on measures of social or cognitive functioning over a period of 24 weeks. (Funded by the National Institute of Child Health and Human Development; SOARS-B ClinicalTrials.gov number, NCT01944046.).

Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms.

BACKGROUND: FOXP1 syndrome is an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, developmental delay, speech and language delays, and externalizing behaviors. We previously evaluated nine children and adolescents with FOXP1 syndrome to better characterize its phenotype. We identified specific areas of interest to be further explored, namely autism spectrum disorder (ASD) and internalizing and externalizing behaviors. METHODS: Here, we assess a prospective cohort of additional 17 individuals to expand our initial analyses and focus on these areas of interest. An interdisciplinary group of clinicians evaluated neurodevelopmental, behavioral, and medical features in participants. We report results from this cohort both alone, and in combination with the previous cohort, where possible. RESULTS: Previous observations of intellectual disability, motor delays, and language deficits were confirmed. In addition, 24% of the cohort met criteria for ASD. Seventy-five percent of individuals met DSM-5 criteria for attention-deficit/hyperactivity disorder and 38% for an anxiety disorder. Repetitive behaviors were almost universally present (95%) even without a diagnosis of ASD. Sensory symptoms, in particular sensory seeking, were common. LIMITATIONS: As FOXP1 syndrome is a rare disorder, sample size is limited. CONCLUSIONS: These findings have important implications for the treatment and care of individuals with FOXP1 syndrome. Notably, standardized testing for ASD showed high sensitivity, but low specificity, when compared to expert consensus diagnosis. Furthermore, many individuals in our cohort who received diagnoses of attention-deficit/hyperactivity disorder or anxiety disorder were not being treated for these symptoms; therefore, our findings suggest that there may be immediate areas for improvements in treatment for some individuals.

Psychiatric illness and regression in individuals with Phelan-McDermid syndrome.

BACKGROUND: Phelan-McDermid syndrome (PMS) is a genetic condition characterized by intellectual disability, speech and language deficits, hypotonia, autism spectrum disorder, and epilepsy. PMS is caused by 22q13.33 deletions or mutations affecting SHANK3, which codes for a critical scaffolding protein in excitatory synapses. SHANK3 variants are also known to be associated with an increased risk for regression, as well as for psychiatric disorders, including bipolar disorder and catatonia. This study aimed to further describe these phenomena in PMS and to explore any relationship between psychiatric illness and regression after early childhood. METHODS: Thirty-eight people with PMS were recruited to this study through the Phelan-McDermid Syndrome Foundation based on caregiver report of distinct development of psychiatric symptoms. Caregivers completed a clinician-administered semi-structured interview focused on eliciting psychiatric symptomatology. Data from the PMS International Registry were used to confirm genetic diagnoses of participants and to provide a larger sample for comparison. RESULTS: The mean age of the 38 participants was 24.7 years (range = 13 to 50; SD = 10.06). Females (31 of 38 cases; 82%) and sequence variants (15 of 38 cases; 39%) were over-represented in this sample, compared to base rates in the PMS International Registry. Onset of psychiatric symptoms occurred at a mean age of 15.4 years (range = 7 to 32), with presentations marked by prominent disturbances of mood. Enduring substantial loss of functional skills after onset of psychiatric changes was seen in 25 cases (66%). Symptomst indicative of catatonia occurred in 20 cases (53%). Triggers included infections, changes in hormonal status, and stressful life events. CONCLUSIONS: This study confirms that individuals with PMS are at risk of developing severe neuropsychiatric illness in adolescence or early adulthood, including bipolar disorder, catatonia, and lasting regression of skills. These findings should increase the awareness of these phenotypes and lead to earlier diagnosis and the implementation of appropriate interventions. Our findings also highlight the importance of genetic testing in the work-up of individuals with intellectual disability and acute psychiatric illness or regression. Future research is needed to clarify the prevalence and nature of psychiatric disorders and regression among larger unbiased samples of individuals with PMS.

Does the presence of conflict affect maternal and neonatal mortality during Caesarean sections?

INTRODUCTION: Conflicts frequently occur in countries with high maternal and neonatal mortality and can aggravate difficulties accessing emergency care. No literature is available on whether the presence of conflict influences the outcomes of mothers and neonates during Caesarean sections (C-sections) in high-mortality settings. OBJECTIVE: To determine whether the presence of conflict was associated with changes in maternal and neonatal mortality during C-sections. METHODS: We analysed routinely collected data on C-sections from 17 Médecins Sans Frontières (MSF) health facilities in 12 countries. Exposure variables included presence and intensity of conflict, type of health facility and other types of access to emergency care. RESULTS: During 2008-2015, 30,921 C-sections were performed in MSF facilities; of which 55.4% were in areas of conflict. No differences were observed in maternal mortality in conflict settings (0.1%) vs. non-conflict settings (0.1%) (P = 0.08), nor in neonatal mortality between conflict (12.2%) and non-conflict settings (11.5%) (P = 0.1). Among the C-sections carried out in conflict settings, neonatal mortality was slightly higher in war zones compared to areas of minor conflict (P = 0.02); there was no difference in maternal mortality (P = 0.38). CONCLUSIONS: Maternal and neonatal mortality did not appear to be affected by the presence of conflict in a large number of MSF facilities. This finding should encourage humanitarian organisations to support C-sections in conflict settings to ensure access to quality maternity care.

Bilingualism in Autism Spectrum Disorder: Finding Meaning in Translation.

In the United States, 12 million children primarily speak a language other than English at home.1 This represents about one in four children with autism spectrum disorder (ASD) being raised in a bilingual environment. The old notion that bilingualism could "confuse" a child has long been refuted by a large body of research that suggests quite the opposite.2 As early as infancy, persons in a bilingual environment show advantages in certain cognitive tasks.3 Furthermore, there is evidence that bilingual persons perform better on tasks indicative of social understanding stemming from the ability to navigate the intricacies of more than one culture. Nevertheless, whether these advantages also apply to children with ASD remains a controversial topic.4.

Natural History of Endoscopic Third Ventriculostomy in Adults: Serial Evaluation with High-Resolution CISS.

BACKGROUND AND PURPOSE: Endoscopic third ventriculostomy is a well-accepted treatment choice for hydrocephalus and is used most frequently with a known impediment to CSF flow between the third ventricle and basal cisterns. However, there are scarce data on the imaging evolution of the defect in the floor of the third ventricle and how this affects patency rates and clinical outcomes. The purpose of this study was to assess whether, and how, the endoscopic third ventriculostomy defect changes in size with time. MATERIALS AND METHODS: All high-resolution endoscopic third ventriculostomy protocol MRIs performed between 2009 through 2014 were retrospectively identified. Two fellowship-trained neuroradiologists, blinded to clinical information, independently reviewed all retrospective cases. RESULTS: A total of 98 imaging studies were included from 34 patients. The average change in the area throughout the studied period was 0.02 mm2/day (7.5 mm2/year), with a higher increase in size noted in the first 3 postsurgical months, with a gradual decrease in the degree of defect-size change. Use of the NICO Myriad device was correlated with the area of the endoscopic third ventriculostomy defect on the last follow-up, demonstrating a larger final defect size in patients in whom the surgical technique included debridement of the endoscopic third ventriculostomy defect walls with the NICO Myriad device (28.21 versus 11.25 mm, P < .05). CONCLUSIONS: High-resolution MR imaging with sagittal CISS images is useful in the postoperative evaluation of endoscopic third ventriculostomies. Such findings may prove useful in determining the optimal duration of follow-up with MR imaging of patients who have undergone endoscopic third ventriculostomy.

Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome.

BACKGROUND: Specialized strategies are needed to understand the complex neuropsychological impairments reported in individuals with profound intellectual and multiple disabilities (PIMD) associated with rare genetic disorders. METHODS: This narrative review focuses on assessment of individuals with Phelan-McDermid Syndrome (PMS) as a condition commonly associated with PIMD. Published case series and prospective studies were reviewed to evaluate approaches to cognitive, language, motor/sensory, and behavioral domains. This review is framed using general principles for neuropsychological evaluation in PIMD. RESULTS: Neuropsychological assessment domains and tools varied across published reports. Adaptive behavior measures, out-of-range developmental assessments, and social-communication measures were commonly used. Available findings were used to shape a recommended framework with potential to improve measurement of clinical outcomes and advance scientific discovery. CONCLUSIONS: The recommended framework outlines an inter-disciplinary and multimodal neuropsychological assessment process relying on modified standardized assessments, functional assessments, and caregiver/informant reports when evaluating individuals with PIMD. Arrested development and skill variability/regression are also discussed as additional, important considerations in neuropsychological evaluation of individuals with PIMD and rare genetic disorders.

Congenital Heart Disease and Neurodevelopment: Clinical Manifestations, Genetics, Mechanisms, and Implications.

Children with congenital heart disease (CHD) are at increased risk of neurodevelopmental disorders (NDDs) and psychiatric conditions. These include cognitive, adaptive, motor, speech, behavioural, and executive functioning deficits, as well as autism spectrum disorder and psychiatric conditions. Structural and functional neuroimaging have demonstrated brain abnormalities in young children with CHD before undergoing surgical repair, likely as a result of an in utero developmental insult. Surgical factors do not seem to play a significant role in neurodevelopmental outcomes. Specific genetic abnormalities, particularly copy number variants, have been increasingly implicated in both CHD and NDDs. Variations in genes involved in apolipoprotein E (APOE) production, the Wnt signalling pathway, and histone modification, as well as in the 1q21.1, 16p13.1-11, and 8p23.1 genetic loci, have been associated with CHD and NDDs and are important targets for future research. Understanding these associations is important for risk stratification, disease classification, improved screening, and pharmacologic management of individuals with CHD.

Treatment of Chronic Lower Extremity Ulcers with A New Er:Yag Laser Technology.

Chronic lower extremity ulcers (CLEUs) have a high prevalence and are difficult to treat due to their various aetiologies. The aim of this study is to evaluate the results achieved in treating CLEUs using an Erbium: YAG (Er:YAG) laser with RecoSMA technology. This laser emits thousands of microbeams of energy causing superficial epidermal ablation and a separation of dermal fibres due to a mechanical-acoustic and resonance effect. The evaluation of the results achieved was carried out by questionnaires completed by 18 patients enrolled in the study. Histological studies and photographs taken before each session (16 sessions in total) were analysed to visually monitor the clinical progress. The analyses were carried out with the help of computer software. The results after 16 treatment sessions showed the complete healing of ulcers or a decrease in their initial area of at least 55% in over 65% of the patients treated. The Student's t-test and Fisher's exact test were used for statistical analysis. The Er:YAG laser and RecoSMA technology ablates few epidermal cell layers, producing a mechanical-acoustic effect with resonance action leading to tissue regeneration mechanisms. This technology offers an effective and safe alternative for treating CLEUs.

Examining the Efficacy of a Family Peer Advocate Model for Black and Hispanic Caregivers of Children with Autism Spectrum Disorder.

Autism spectrum disorder (ASD) affects individuals across all racial and ethnic groups, yet rates of diagnosis are disproportionately higher for Black and Hispanic children. Caregivers of children with ASD experience significant stressors, which have been associated with parental strain, inadequate utilization of mental health services and lower quality of life. The family peer advocate (FPA) model has been utilized across service delivery systems to provide family-to-family support, facilitate engagement, and increase access to care. This study used a randomized controlled design to examine the efficacy of FPAs in a racially and ethnically diverse sample. Results demonstrate significantly increased knowledge of ASD and reduced levels of stress for caregivers who received the FPA intervention as compared to treatment as usual.

Emergency obstetric care in a rural district of Burundi: What are the surgical needs?

OBJECTIVES: In a rural district hospital in Burundi offering Emergency Obstetric care-(EmOC), we assessed the a) characteristics of women at risk of, or with an obstetric complication and their types b) the number and type of obstetric surgical procedures and anaesthesia performed c) human resource cadres who performed surgery and anaesthesia and d) hospital exit outcomes. METHODS: A retrospective analysis of EmOC data (2011 and 2012). RESULTS: A total of 6084 women were referred for EmOC of whom 2534(42%) underwent a major surgical procedure while 1345(22%) required a minor procedure (36% women did not require any surgical procedure). All cases with uterine rupture(73) and extra-uterine pregnancy(10) and the majority with pre-uterine rupture and foetal distress required major surgery. The two most prevalent conditions requiring a minor surgical procedure were abortions (61%) and normal delivery (34%). A total of 2544 major procedures were performed on 2534 admitted individuals. Of these, 1650(65%) required spinal and 578(23%) required general anaesthesia; 2341(92%) procedures were performed by 'general practitioners with surgical skills' and in 2451(96%) cases, anaesthesia was provided by nurses. Of 2534 hospital admissions related to major procedures, 2467(97%) were discharged, 21(0.8%) were referred to tertiary care and 2(0.1%) died. CONCLUSION: Overall, the obstetric surgical volume in rural Burundi is high with nearly six out of ten referrals requiring surgical intervention. Nonetheless, good quality care could be achieved by trained, non-specialist staff. The post-2015 development agenda needs to take this into consideration if it is to make progress towards reducing maternal mortality in Africa.

Surgical interventions for pulmonary tuberculosis in Mumbai, India: surgical outcomes and programmatic challenges.

Setting: While surgery for pulmonary tuberculosis (PTB) is considered an important adjunct for specific cases, including drug-resistant tuberculosis, operational evidence on its feasibility and effectiveness is limited. Objective: To describe surgical outcomes and programmatic challenges of providing surgery for PTB in Mumbai, India. Design: A descriptive study of routinely collected data of surgical interventions for PTB from 2010 to 2014 in two Mumbai hospitals, one public, one private. Results: Of 85 patients, 5 (6%) died and 17 (20%) had complications, with wound infection being the most frequent. Repeat operation was required in 12 (14%) patients. Most procedures were performed on an emergency basis, and eligibility was established late in the course of treatment. Median time from admission to surgery was 51 days. Drug susceptibility test (DST) patterns and final treatment outcomes were not systematically collected. Conclusion: In a high-burden setting such as Mumbai, important data on surgery for PTB were surprisingly limited in both the private and public sectors. Eligibility for surgery was established late, culture and DST were not systematically offered, the interval between admission and surgery was long and TB outcomes were not known. Systematic data collection would allow for proper evaluation of surgery as adjunctive therapy for all forms of TB under programmatic conditions.

Contexte : La chirurgie de la tuberculose pulmonaire (TBP) est considérée comme un adjuvant important dans des cas spécifiques, notamment celui de la TB pharmacorésistante ; les preuves opérationnelles de sa faisabilité et de son efficacité sont cependant limitées.Objectif : Décrire les résultats de la chirurgie et les défis programmatiques liés à l'offre de chirurgie à Mumbai, Inde.Schéma : Une étude descriptive de données recueillies en routine relatives aux interventions chirurgicales de TBP de 2010 à 2014 dans deux hôpitaux de Mumbai (un public, un privé).Résultats : Sur 85 patients, 5 (6%) sont décédés, 17 (20%) ont eu des complications, dont la plus fréquente était une infection de la plaie. Une deuxième intervention a été nécessaire dans 12 cas (14%). La majorité des procédures a été réalisée en urgence et l'éligibilité a été établie tardivement au cours du traitement. Le délai médian de l'admission à la chirurgie a été de 51 jours. Les profils de résistance de la TB et le résultat final du traitement n'ont pas été recueillis de façon systématique.Conclusion : Dans un contexte lourdement touché comme Mumbai, des données importantes relatives à la chirurgie de la TBP ont été étonnamment limitées à la fois dans le secteur privé et public. L'éligibilité à la chirurgie a été établie tardivement, la culture et le test de pharmacosensibilité n'ont pas été systématiquement proposés, l'intervalle entre l'admission et la chirurgie a été long et les résultats en matière de TB n'ont pas été notés. Un recueil systématique des données permettrait une évaluation correcte de la chirurgie comme traitement adjuvant de toutes les formes de TB dans des conditions de programme.

Marco de referencia: El tratamiento quirúrgico se considera un complemento importante en el manejo de casos específicos de tuberculosis pulmonar (TBP), como la TB farmacorresistente; sin embargo, las pruebas operativas de su factibilidad y eficacia son escasas.Objetivo: Describir los desenlaces quirúrgicos y las dificultades programáticas de la prestación de opciones quirúrgicas a los casos de TBP en Bombay, en la India.Método: Fue este un estudio descriptivo de los datos recogidos de manera sistemática sobre las intervenciones quirúrgicas por TBP, realizadas del 2010 al 2014 en dos hospitales de Bombay (uno del sector público y otro del sector privado).Resultados: De los 85 pacientes tratados, cinco fallecieron (6%), 17 presentaron complicaciones (20%), de las cuales la infección de la herida fue la más frecuente. Fue necesaria una segunda intervención en 12 pacientes (14%). La mayoría de los procedimientos tuvieron lugar en un contexto de urgencia y los criterios de selección se analizaron tarde en el curso del tratamiento. La mediana del tiempo entre la hospitalización y la cirugía fue 51 días. El tipo de resistencia de la TB y los desenlaces terapéuticos no se registraron de manera sistemática.Conclusión: En un entorno con alta carga de morbilidad por TB como Bombay, los datos importantes sobre la cirugía por TBP son sorprendentemente escasos en el sector público y también en el sector privado de atención. Los criterios de selección para la cirugía se analizan tarde, no se ofrece de manera sistemática el cultivo y las pruebas de sensibilidad a los medicamentos, el intervalo entre la hospitalización y el procedimiento es prolongado y se desconocen los desenlaces clínicos de la tuberculosis. La recogida sistemática de datos facilitaría una evaluación adecuada de la cirugía como tratamiento complementario en todas las formas de TB en un contexto programático.

A novel method of facial rejuvenation using a 2940-nm erbium:YAG laser with spatially modulated ablation: a pilot study.

The objective of this study was to determine the efficacy and safety of a novel method of facial rejuvenation using a 2940-nm erbium:YAG laser with Spatially Modulated Ablation™. A pilot study was performed in 16 women with moderate to severe signs of facial aging relative to chronological age, who underwent two treatment sessions with an Er:YAG laser coupled to the RecoSMA™ technology (Linline, Minsk, Belarus). The whole face was treated in all patients. Clinical efficacy, tolerance, adverse effects, complications, and histological changes due to the treatment were evaluated. Clinical photographs and biopsies were taken before treatment and 3 months after the second treatment session. All patients completed the study and presented no significant complications. Histological changes in the epidermis and dermis as a result of treatment were found. Fine lines, wrinkles, and overall facial aging improved significantly (p < 0.0001). The mean reduction of fine lines and wrinkles was 59 % (r = 40-75 %). The mean improvement of overall facial aging was 74 % (r = 55-90 %). After showing the patients the comparative photographs before and after treatment, 75 % of women stated that they were satisfied or very satisfied and would recommend the treatment. Preliminary results show an excellent safety/efficacy profile for this novel technology, which, based on observed results, can be considered to have advantages over other methods of facial rejuvenation with lasers.

Properties of polidocanol foam in view of its use in sclerotherapy.

Foam sclerotherapy is a widely used method to treat varicose veins disease. It is easy to use and apply, affordable, and has high efficiency that depends on foam stability upon injection. Since sclerotherapy is usually applied in a medical doctor's office, one of the most employed methods to generate foam is based on the Tessari technique which uses pumping cycles of liquid and air in-and-out of a double syringe system. Finally, the produced foam exits through a small orifice (∼2mm) at the output of a three-way valve. The present work shows results regarding the factors that may influence foam stability (liquid to air ratio, type of connector, syringe diameter, number of pumping cycles, etc.) of a commonly used sclerosing agent (polidocanol). Furthermore, an effort is made to evaluate the effect of adding different substances on the stability of polidocanol foams (0.5% w/w) by altering the surface tension or/and the bulk and interfacial rheological properties of the fluids. It is shown that adding small concentrations of nonionic surfactants can increase foam stability with just a very small variation of the mean bubbles size.

Clinical and microscopic evaluation of long-term (6 months) epilation effects of the ipulse personal home-use intense pulsed light (IPL) device.

BACKGROUND: The aim of this study is to investigate the cellular mechanism of long-term hair reduction using a novel, square pulse, low-fluence home-use IPL device. METHODS: Ten subjects' axillae (Fitzpatrick III-V) were treated once weekly for four consecutive weeks in a simulated home-use trial. Treated and control site punch biopsies were taken from axillary sites for H&E staining and blinded histological examination before, immediately after and six months after the fourth treatment. The contralateral axilla served as a control. RESULTS: Histologically, four sequential weekly treatments gave a significant increase in telogen compared with anagen follicles. Six months after the fourth treatment, an 87% reduction in terminal hair count (P ≤ 0.00005) was recorded. An atypical telogen with infundibular dilatation and plugging of keratin and clumping of melanin with disintegration and/or retraction of the intraluminal hair shaft were observed. The papillae remained viable and some new anagen follicles were evident after four treatments. Vellous hairs appeared unaffected by IPL exposures. A mixed inflammatory infiltrate of lymphocytes and eosinophils around vessels of the superficial and deep dermis was sometimes present but the epidermis appeared always normal. CONCLUSION: A highly significant hair density reduction through induction of telogen followed by miniaturization similar to that achieved in professionally delivered permanent laser hair reduction appears to be the major mechanism of hair reduction using home-use IPL. IPL-induced damage to the isthmus and upper stem may inhibit or interfere with the hair regrowth process. Longer term studies are required to determine if this observed damage is clinically permanent.