Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti.

BACKGROUND: Incontinentia pigmenti (IP) is a rare multisystemic X-linked dominant genetic disorder characterized by highly diagnostic skin lesions. The disease can be misdiagnosed in infants, and complications affecting the eyes and/or the brain can be severe. Our objective was to highlight the urgency of an appropriate diagnosis and management strategy, as soon as the first symptoms appear, and the need for a well-codified monitoring strategy for each child. METHODS: An in-depth literature review using a large number of databases was conducted. The selection criteria for articles were literature review articles on the disease, case series and retrospective studies based on the disease, clinical studies (randomized or not) on treatment, articles discussing patient care and management (treatment, diagnosis, care pathways), and recommendations. The research period was from 2000 until 2018. A group of multidisciplinary experts in IP management was involved, issued from different healthcare providers of the European Network for Rare Skin Diseases (ERN-Skin). The final recommendations have been submitted to two patient representative associations and to a general practitioner and a neonatal specialist prior to their finalization. RESULTS AND CONCLUSION: The diagnosis of IP must be promptly performed to detect potential extracutaneous manifestations, thus allowing the timely implementation of specific therapeutic and monitoring strategies. Eye involvement can be a therapeutic urgency, and central nervous system (CNS) involvement requires a very rigorous long-term follow-up. Assessments and patient support should take into account the possible co-occurrence of various symptoms (including motor, visual and cognitive symptoms).

Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15).

OBJECTIVE: To define the electroclinical phenotype and long-term outcomes in a cohort of patients with inv dup (15) syndrome. MATERIAL AND METHODS: The electroclinical data of 45 patients (25 males) affected by inv dup (15) and seizures were retrospectively analysed, and long-term follow-up of epilepsy was evaluated. RESULTS: Epilepsy onset was marked by generalized seizures in 53% of patients, epileptic spasms in 51%, focal seizures in 26%, atypical absences in 11% and epileptic falls in 9%. The epileptic syndromes defined were: generalized epilepsy (26.7%), focal epilepsy (22.3%), epileptic encephalopathy with epileptic spasms as the only seizure type (17.7%) and Lennox-Gastaut syndrome (33.3%). Drug-resistant epilepsy was detected in 55.5% of patients. There was a significant higher prevalence of seizure-free patients in those with seizure onset after the age of 5 years and with focal epilepsy, with respect to those with earlier epilepsy onset because most of these later developed an epileptic encephalopathy (69.2% vs 34.4%; P = .03), usually Lennox-Gastaut Syndrome in type. In fact, among patients with early-onset epilepsy, those presenting with epileptic spasms as the only seizure type associated with classical hypsarrhythmia achieved seizure freedom (P < .001) compared to patients with spasms and other seizure types associated with modified hypsarrhythmia. CONCLUSIONS: Epilepsy in inv dup (15) leads to a more severe burden of disease. Frequently, these patients show drug resistance, in particular when epilepsy onset is before the age of five and features epileptic encephalopathy.

Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies-An Italian observational multicenter study.

PURPOSE: To evaluate the efficacy and tolerability of Perampanel (PER) in children and adolescents with refractory epilepsies in daily clinical practice conditions. PATIENTS AND METHODS: This Italian multicenter retrospective observational study was performed in 16 paediatric epilepsy centres. Inclusion criteria were: (i) ≤18 years of age, (ii) history of refractory epilepsy, (iii) a follow-up ≥5 months of PER add-on therapy. Exclusion criteria were: (i) a diagnosis of primary idiopathic generalized epilepsy, (ii) variation of concomitant AEDs during the previous 4 weeks. Response was defined as a ≥50% reduction in monthly seizure frequency compared with the baseline. RESULTS: 62 patients suffering from various refractory epilepsies were included in this study: 53% were males, the mean age was 14.2 years (range 6-18 years), 8 patients aged <12 years. Mean age at epilepsy onset was 3.4 years and the mean duration of epilepsy was 10.8 years (range 1-16), which ranged from 2 seizures per-month up to several seizures per-day (mean number=96.5). Symptomatic focal epilepsy was reported in 62.9% of cases. Mean number of AEDs used in the past was 7.1; mean number of concomitant AEDs was 2.48, with carbamazepine used in 43.5% of patients. Mean PER daily dose was 7.1mg (2-12mg). After an average of 6.6 months of follow-up (5-13 months), the retention rate was 77.4% (48/62). The response rate was 50%; 16% of patients achieved ≥75% seizure frequency reduction and 5% became completely seizure free. Seizure aggravation was observed in 9.7% of patients. Adverse events were reported in 19 patients (30.6%) and led to PER discontinuation in 4 patients (6.5%). The most common adverse events were behaviour disturbance (irritability and aggressiveness), dizziness, sedation and fatigue. CONCLUSION: PER was found to be a safe and effective treatment when used as adjunctive therapy in paediatric patients with uncontrolled epilepsy.

[Procedural pain perception of preterm newborn in neonatal intensive care unit: assessment and non-pharmacological approaches]. / Percezione del dolore procedurale del nato pretermine in terapia intensiva neonatale: valutazione e tecniche non farmacologiche d'intervento.

AIM: The aim of this study was to evaluate the reaction to the procedural pain of preterm newborn and to demonstrate the different effectiveness of the two analgesic and not pharmacological techniques of recent clinical acquisition, the use of glucose solution and the sensorial saturation, in order to identify an optimal strategy for the prevention and pain treatment. METHODS: We take a sample of 28 preterm newborns of 30-35 weeks. The subjects are divided in two randomized groups following the kind of analgesia used during the hematic sample from heel: the first group (group A) included 14 subjects, who received glucose solution associated to no nutritive suction; the second group (group B) included 14 subjects who received the sensorial saturation. The symptoms associated with pain at the moment of venous sample are measured through premature infant pain profile (PIPP) scale. RESULTS: Results show that the score was lower in the group treated with sensorial saturation (media 6.52; P<0.001) than in the group treated with glucose (media 13.80; P<0.05). CONCLUSION: The use of "care" techniques (in our case sensorial saturation) ameliorates the quality of life in NICU and reduces the pain threshold perceived by newborn, reducing therefore the exposition to the pain stimulus and the possibility that some consequences due to an inadequate pain treatment in neonatal age could develop.

Prognosis in Behcet's disease.

A retrospective clinical study made to determine the course and prognosis of the disease in 51 cases of Behçet's disease, with a follow-up of at least one year (average five years, range 1 to 15 years), showed that 45% of the eyes kept visual acuities of 1/10 or less, and 44% 8/10 or better, four years after the onset of the ocular symptoms. Ten years later, some 50% of the eyes had visual acuities of 1/10 or less and 32% had acuities of 8/10 or better. In the group of patients who were treated early with chlorambucil, the eye prognosis was significantly improved.

Thymic factor therapy for herpetic keratitis.

Thirty patients with herpetic keratitis were allocated to a double-blind trial with either local treatment plus placebo (control group) or local treatment plus thymostimulin (TS group). The follow-up at 24 months demonstrated a significant reduction of recurrence rate among patients receiving thymostimulin, along with a significant increase of sheep rosette-forming cells (E rosette). Furthermore, among patients with superficial keratitis, thymostimulin treatment resulted in a significantly quicker corneal re-epithelization than placebo. Thymostimulin seems to be a safe and helpful drug in the management of herpetic keratitis.