History and highlights of the teratological collection in the Museum Anatomicum of Leiden University, The Netherlands

The anatomical collection of the Anatomical Museum of Leiden University Medical Center (historically referred to as Museum Anatomicum Academiae Lugduno-Batavae) houses and maintains more than 13,000 unique anatomical, pathological and zoological specimens, and include the oldest teratological specimens of The Netherlands. Throughout four centuries hundreds of teratological specimens were acquired by more than a dozen collectors. Due to the rich history of this vast collection, teratological specimens can be investigated in a unique retrospective sight going back almost four centuries. The entire 19th century collection was described in full detail by Eduard Sandifort (1742–1814) and his son Gerard Sandifort (1779–1848). Efforts were made to re-describe, re-diagnose and re-categorize all present human teratological specimens, and to match them with historical descriptions. In the extant collection a total of 642 human teratological specimens were identified, including exceptional conditions such as faciocranioschisis and conjoined twins discordant for cyclopia, and sirenomelia. Both father and son Sandifort differed in their opinion regarding the causative explanation of congenital anomalies. Whereas, their contemporaries Wouter Van Doeveren (1730–1783) and Andreas Bonn (1738–1817) both presented an interesting view on how congenital anomalies were perceived and explained during the 18th and 19th centuries; the golden age of descriptive teratology. Although this enormous collection is almost 400 years old, it still impresses scientists, (bio)medical students, and laymen visiting and exploring the collections of the Museum Anatomicum in Leiden, The Netherlands.

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A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defects

The association between conotruncal heart defects (CTHDs) and maternal genetic and environmental exposures is well studied. However, little is known about paternal genetic or environmental exposures and risk of CTHDs. We assessed the effect of paternal genetic variants in the folate, homocysteine, and transsulfuration pathways on risk of CTHDs in offspring. We utilized National Birth Defects Prevention Study data to conduct a family-based case only study using 616 live-born infants with CTHDs, born October 1997—August 2008. Maternal, paternal and infant DNA was genotyped using an Illumina® Golden Gate custom single nucleotide polymorphism (SNP) panel. Relative risks (RR) and 95% confidence intervals (CI) from log-linear models determined parent of origin effects for 921 SNPs in 60 candidate genes involved in the folate, homocysteine, and transsulfuration pathways on risk of CTHDs. The risk of CTHD among children who inherited a paternally derived copy of the A allele on GLRX (rs17085159) or the T allele of GLRX (rs12109442) was 0.23 (95%CI: 0.12, 0.42; p = 1.09 × 10⁻⁶) and 0.27 (95%CI: 0.14, 0.50; p = 2.06 × 10⁻⁵) times the risk among children who inherited a maternal copy of the same allele. The paternally inherited copy of the GSR (rs7818511) A allele had a 0.31 (95%CI: 0.18, 0.53; p = 9.94 × 10⁻⁶] risk of CTHD compared to children with the maternal copy of the same allele. The risk of CTHD is less influenced by variants in paternal genes involved in the folate, homocysteine, or transsulfuration pathways than variants in maternal genes in those pathways.

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Paediatric genomics: diagnosing rare disease in children

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Tandem repeats mediating genetic plasticity in health and disease

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Train-of-four recovery precedes twitch recovery during reversal with sugammadex in pediatric patients: A retrospective analysis

Summary

Background

After reversal of a rocuronium-induced neuromuscular blockade with sugammadex, the recovery of train-of-four ratio to 0.9 is faster than recovery of first twitch of the train-of-four to 90% in adults. These findings after reversal of neuromuscular blockade with sugammadex have not yet been investigated in pediatric patients.

Aims

The aim of this retrospective analysis was to investigate the relationship of the recovery of first twitch of the train-of-four height and train-of-four ratio after reversal of rocuronium-induced neuromuscular blockade with sugammadex in pediatric patients.

Methods

Patients ASA I-III, aged 2-11 years, and who underwent abdominal and/or perineal surgery were included in the analysis. After extracting the necessary data from the hospital database, the patients were divided into 2 groups based on the dose of sugammadex received: group A: 2 mg.kg⁻¹ for reversal of moderate neuromuscular blockade and group B: 4 mg.kg⁻¹ for reversal of deep neuromuscular blockade. The relationship of the recovery of first twitch of the train-of-four height and train-of-four ratio in these 2 groups were analyzed.

Results

Data from 43 pediatric patients aged 2-11 years could be analyzed. The first twitch of the train-of-four height at the recovery of train-of-four ratio to 0.9 in group B was statistically significantly lower compared with group A. This height 3 and 5 minutes after the train-of-four ratio reached 0.9 showed no statistically significant differences between groups.

Conclusion

The results were in line with the results found in adults and showed that the train-of-four ratio recovered to 0.9 was faster than first twitch of the train-of-four height recovered to the same level.

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Oesophageal atresia: Are “long gap” patients at greater anesthetic risk?

Summary

Background

Long gap oesophageal atresia occurs in approximately 10% of all oesophageal atresia infants and surgical repair is often difficult with significant postoperative complications. Our aim was to describe the perioperative course, morbidity, and early results following repair of long gap oesophageal atresia and to identify factors which may be associated with complications.

Methods

This is a single center retrospective cohort study of consecutive patients with oesophageal atresia undergoing surgical repair at The Royal Children's Hospital Melbourne from January 2006 to June 2017.

Results

Two hundred and thirty-nine consecutive oesophageal atresia infants included 44 long gap oesophageal atresia infants and 195 non-long gap infants. A high rate of prematurity (24.7%), major cardiac (17%), and other surgically relevant malformations (12.6%) was found in both groups. The median age at oesophageal anastomosis surgery was 65.5 days for the long gap group vs 1 day for the oesophageal atresia group (mean difference 56.8 days, 95% CI 48.1-65.5 days, P < .01). Surgery for long gap oesophageal atresia included immediate primary anastomosis (n = 10), delayed primary anastomosis (n = 11), oesophageal lengthening techniques (n = 12) and primary oesophageal replacement (n = 6). Long gap oesophageal atresia was not associated with an increased incidence of difficult intubation (OR 2.8, 95% CI 0.6-22.1, P = .17), intraoperative hypoxemia (OR 1.6, 95% CI 0.6-4.5, P = .32), or hypotension (OR 0.9, 95% CI 0.5-1.8, P = .81). The surgical duration (177.7 vs 202.1 minute, mean difference [95% CI], 28 [5.5-50.4 minutes], P = .04) and mean duration of postoperative mechanical ventilation (107 vs 199.8 hours, mean difference [95% CI], 91.8 [34.5-149.1 hours], P < .01) were shorter for the non-long gap group. Overall in-hospital mortality was 7.5% (15.9% long gap vs 5.6% non-long gap oesophageal atresia OR 1.1, 95% CI 0.4-3.4, P = .85).

Conclusion

Long gap oesophageal atresia infants have a similar incidence of perioperative complications to other infants with oesophageal atresia. Current surgical approaches to long gap repair, however, are associated with longer anesthetic exposures and require multiple procedures in infancy to achieve oesophageal continuity.

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Clinical Utility of EEG in Diagnosing and Monitoring Epilepsy in Adults

Epilepsy is a common, chronic, complex group of neurological disorders. Worldwide, more than 50 million people have epilepsy, affecting humans of all ages, ethnicity, social background, and geographic location (Perucca et al., 2014a; England et al., 2012). It is characterized by an ongoing predisposition to recurrent seizures. Newer definitions of epilepsy include patients with reflex seizures, those with two or more unprovoked seizures greater than 24 hours apart, and high-risk individuals with a single seizure and at least a 60% likelihood of experiencing recurrent seizures over the ensuing 10 years as compared to the general population (Fisher et al., 2014).

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Right prefrontal cortex specialization for visuospatial working memory and developmental alterations in prefrontal cortex recruitment in school-age children

Working memory (WM) is a system for maintaining and manipulating information (Baddeley et al., 1974), which has a subsystem that specifically processes visuospatial information (i.e., visuospatial WM: VSWM). Cornoldi et al. (2004) have proposed a continuity model of WM assuming the existence of two dimensions: a horizontal continuum comprising different content types (e.g., verbal or visuospatial information) and a vertical continuum distinguishing between passive storage and active processing. Passive storage is the retention of information that is not modified after encoding, whereas active processing is associated with integration, transformation, modification, and/or manipulation of stored information (Cornoldi et al., 2000; Cornoldi et al., 2004).

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Symmetry of cortical planning for initiating stepping in sub-acute stroke

After stroke, many people exhibit altered movement patterns making normal performance of balance and walking difficult (Duncan et al., 1992). However, the influence of motor planning on performance of balance and walking post-stroke is not well understood. Motor planning is defined as the integration of sensory afferent information (Ghez et al., 1997), such as limb position and muscle force (Kandel et al., 2000), with a functional goal (Zimmermann et al., 2012) to generate a movement (Peters et al., 2015).

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Peripheral Neuropathies and the Vestibular System: Is there a role for Vestibular Rehabilitation?

Vestibular evoked myogenic potentials (VEMPs) are used to objectively evaluate function and dysfunction of the vestibular system, specifically the sacullo-collic pathway (mainly, with the use of cervical VEMPs (cVEMPs)) and the utriculo-ocular pathway (mainly, with the use of ocular VEMPs (oVEMPs) (Colebatch et al., 1994; Rosengren et al., 2005; Iwasaki et al., 2007; Todd et al., 2007; Rosengren et al., 2009; Zhang et al., 2011). Together with other paramedical examinations, notably the caloric test and the video head impulse test (vHIT), all parts of the vestibular labyrinth may now be objectively and quantitatively examined.

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Characterization of the stimulus waveforms generated by implantable pulse generators for deep brain stimulation

Deep brain stimulation (DBS) is an established therapy to treat several neurological disorders (e.g. essential tremor, Parkinson's disease, dystonia, obsessive-compulsive disorder) (Benabid et al., 1991; Greenberg et al., 2010; Obeso et al., 2001; Vidailhet et al., 2005) and its efficacy is being explored for a range of additional indications (e.g. epilepsy, treatment-resistant depression, neuropathic pain, Tourette syndrome) (Fisher et al., 2010; Holtzheimer, 2012; Lempka et al., 2017; Malone et al., 2009; Morrell and RNS System in Epilepsy Study Group, 2011; Schrock et al., 2015).

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Functional cortical source connectivity of resting state electroencephalographic alpha rhythms shows similar abnormalities in patients with mild cognitive impairment due to Alzheimer’s and Parkinson’s diseases

About 50-70% of 46 million of cases of dementia worldwide are due to Alzheimer's (ADD) and Parkinson's (PDD) neurodegenerative diseases across aging (Prince et al., 2015). ADD typically presents a major amnesic syndrome and minor linguistic, visuospatial, and visual disease variants (Dubois et al., 2014). PDD manifest attentional, verbal, and executive cognitive deficits in association with motor manifestations such as akinesia, tremor, postural instability, and rigidity (Aarsland et al., 2003; Buter et al., 2008; Dubois and Pillon, 1996; Emre et al., 2007; Huber et al., 1989; Hughes et al., 2000; Levy et al., 2000; Walker et al., 2015; Wolters, 2001).

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Corrigendum to “Ultrasound in polyneuropathies – Is size or structure all that matters?” [Clin. Neurophysiol. 128 (2017) 2519–2520]

The authors regret that author the name of author K. Pitarokoili was misspelled as 'K. Pitarokoilli' in the original article. This has now been corrected.

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