Ultrasound-guided continuous phrenic nerve block for persistent hiccups.

Contains fulltext : 87560.pdf (publisher's version ) (Closed access)BACKGROUND: Phrenic nerve block can be performed and repeated if necessary for persistent hiccups, when conservative and pharmacological treatment is unsuccessful. We report the first description of an in-plane ultrasound (US)-guided phrenic nerve block (PhNB) with a catheter, after US investigation of the bilateral diaphragm, to treat hiccups while avoiding repeated PhNBs. CASE: A 36-year-old man had persistent postoperative hiccups not responding to conservative and pharmacological treatment. Bilateral diaphragmatic US evaluation showed abnormal right-sided movement. A right-sided in-plane US-guided PhNB with catheter was performed. Injection of local anesthetic stopped the hiccups, and a continuous infusion of local anesthetic was started for 24 hrs. After discontinuation of the infusion, the hiccups recurred. Restart of the continuous infusion of the local anesthetic through the catheter was performed, and after discontinuation 24 hrs later, no further hiccups occurred. No adverse effect occurred. CONCLUSIONS: An US-guided in-plane PhNB with catheter is feasible and avoids repeated PhNB when hiccups reoccur. Ultrasound investigation of the bilateral diaphragm should be performed before performing the nerve block

Minimum effective volume of local anesthetic for shoulder analgesia by ultrasound-guided block at root C7 with assessment of pulmonary function.

Contains fulltext : 88926.pdf (publisher's version ) (Closed access)BACKGROUND AND OBJECTIVES: This study was performed to determine the minimum effective volume of ropivacaine 0.75% required to produce effective shoulder analgesia for an ultrasound (US)-guided block at the C7 root level with assessment of pulmonary function. METHODS: Using the Dixon and Massey up-and-down method study design, 20 patients scheduled for elective open shoulder surgery under combined general anesthesia and continuous interscalene brachial plexus block were included. Initial volume of ropivacaine 0.75% was 6 mL; block success or failure determined a 1-mL decrease or increase for the subsequent patient, respectively. General anesthesia was standardized. A continuous infusion of ropivacaine 0.2% was started at a rate of 6 mL/hr at 2 hrs after completion of surgery. Ventilatory function was assessed using spirometry, and movement of the hemidiaphragm was assessed by US. RESULTS: The minimum effective volume of local anesthetic in 50% and 95% of the patients was 2.9 mL (95% confidence interval, 2.4-3.5 mL) and 3.6 mL (95% confidence interval, 3.3-6.2 mL), respectively. Ventilatory function and hemidiaphragmatic movement was not reduced up to and including 2 hrs after completion of surgery, but 22 hrs after start of the continuous infusion of ropivacaine 0.2%, ventilatory function and hemidiaphragmatic movement were significantly reduced (P < 0.001). CONCLUSIONS: The minimum effective volume of local anesthetic for shoulder analgesia for a US-guided block at the C7 root level in 50% and 95% of the patients was 2.9 and 3.6 mL, respectively. Pulmonary function was unchanged until 2 hrs after completion surgery, but reduced 22 hrs after start of a continuous infusion of ropivacaine 0.2%.1 november 201

Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy

BACKGROUND:PCDH19 Girls clustering epilepsy (GCE) has a phenotypic spectrum that includes developmental and epileptic encephalopathy. PCDH19-GCE presents with clusters of seizures in the first years of life. Although patients typically outgrow their seizures, many are left with intellectual disability. Here we retrospectively assess the effect of levetiracetam in two independent cohorts of females with PCDH19-GCE. METHODS:Cohort A was identified by searching our epilepsy genetics research database for girls with PCDH19-GCE who had trialled levetiracetam. Cohort B consisted of girls aged 2 years or older, including women, participating in an international online questionnaire. Information regarding seizure frequency and levetiracetam use was obtained by in-person patient interview and review of clinical records for cohort A, and by patient report for cohort B. RESULTS:Cohort A consisted of 17 females, aged 3-37 years, who had a trial of levetiracetam at an average age of 10.7 years. 13/17 females became seizure free for >12 months; while 10/17 remained seizure free for >24 months. Cohort B comprised 62 females, aged 1.5-41 years. 26/62 became seizure free for >12 months, and 19/62 for >24 months on levetiracetam therapy. DISCUSSION:Levetiracetam was effective in two cohorts of females with PCDH19-GCE where 42% and 76% of females became seizure free for >12 months, respectively. Levetiracetam is an effective therapy for females with PCDH19-GCE and should be considered early in the management of the highly refractory clusters of seizures that characterise this genetic disease.Lynette G. Sadleir, Kristy L. Kolc, Chontelle King, Heather C. Mefford, Russell C. Dale, Jozef Gecz, Ingrid E. Scheffe

Genetic convergence of developmental and epileptic encephalopathies and intellectual disability

AIM: To determine whether genes that cause developmental and epileptic encephalopathies (DEEs) are more commonly implicated in intellectual disability with epilepsy as a comorbid feature than in intellectual disability only. METHOD: We performed targeted resequencing of 18 genes commonly implicated in DEEs in a cohort of 830 patients with intellectual disability (59% male) and 393 patients with DEEs (52% male). RESULTS: We observed a significant enrichment of pathogenic/likely pathogenic variants in patients with epilepsy and intellectual disability (16 out of 159 in seven genes) compared with intellectual disability only (2 out of 671) (p<1.86×10(-10) , odds ratio 37.22, 95% confidence interval 8.60-337.0). INTERPRETATION: We identified seven genes that are more likely to cause epilepsy and intellectual disability than intellectual disability only. Conversely, two genes, GRIN2B and SCN2A, can be implicated in intellectual disability without epilepsy; in these instances intellectual disability is not a secondary consequence of ongoing seizures but rather a primary cause. What this paper adds A subset of genes are more commonly implicated in epilepsy than other neurodevelopmental disorders. GRIN2B and SCN2A are implicated in intellectual disability and epilepsy independently

Fast response of lake plankton and nutrients to river inundations on floodplain lakes

Key variables in ecosystems tend to operate on widely different time-scales. These time-scales become relevant when a disturbance rocks the ecosystem. Here we try to explain the fast dynamics of plankton and nutrients in the water column of floodplain lakes after disturbances (inundations). We take advantage of natural experiments, that is occasional massive overflow of floodplain lakes with river water. We sampled 10 lakes in two floodplains along the Dutch river Waal monthly for 3 years, capturing the impact of three inundation events. The inundations reset the plankton as well as chemical composition of most lakes to largely the same state. While biologically inert macro-ion data reflected a large and long lasting impact of the river water, dynamics of nutrients, phytoplankton and zooplankton communities between lakes diverged in a few weeks to regimes characteristic for the different lakes. While one spring inundation synchronized plankton dynamics to let the subsequent clear water phase occur at the same moment in different lakes, winter inundations did not have the same effect and apparently dynamics quickly diverged. Our results showed that effects of inundations and other processes that affect the state of the ecosystem should be studied considering the level of the slow components such as the sediment nutrient pool, fish stock and macrophyte communities. Plankton communities and lake water nutrient status give a practically instantaneous reflection of the condition of these slow component

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Molecular Psychiatry advance online publication 24 February 2015Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A) maps to the Down syndrome critical region; copy number increase of this gene is thought to have a major role in the neurocognitive deficits associated with Trisomy 21. Truncation of DYRK1A in patients with developmental delay (DD) and autism spectrum disorder (ASD) suggests a different pathology associated with loss-of-function mutations. To understand the phenotypic spectrum associated with DYRK1A mutations, we resequenced the gene in 7162 ASD/DD patients (2446 previously reported) and 2169 unaffected siblings and performed a detailed phenotypic assessment on nine patients. Comparison of our data and published cases with 8696 controls identified a significant enrichment of DYRK1A truncating mutations (P=0.00851) and an excess of de novo mutations (P=2.53 × 10(-10)) among ASD/intellectual disability (ID) patients. Phenotypic comparison of all novel (n=5) and recontacted (n=3) cases with previous case reports, including larger CNV and translocation events (n=7), identified a syndromal disorder among the 15 patients. It was characterized by ID, ASD, microcephaly, intrauterine growth retardation, febrile seizures in infancy, impaired speech, stereotypic behavior, hypertonia and a specific facial gestalt. We conclude that mutations in DYRK1A define a syndromic form of ASD and ID with neurodevelopmental defects consistent with murine and Drosophila knockout models.B W M van Bon, B P Coe, R Bernier, C Green, J Gerdts, K Witherspoon, T Kleefstra, M H Willemsen, R Kumar, P Bosco, M Fichera, D Li, D Amaral, F Cristofoli, H Peeters, E Haan, C Romano, H C Mefford, I Scheffer, J Gecz, B B A de Vries and E E Eichle