Congenital megalourethra presenting with large cystic mass in the inguinal area

Congenital megalourethra is a rare urogenital malformation characterized by severe dilatation and elongation of the penile urethra. It causes functional obstruction of the lower urinary system. Herein, we present a newborn with congenital megalourethra with single umbilical artery.     

Guidelines on clinical presentation and management of nondystrophic myotonias

The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterized by myotonia, defined as delayed muscle relaxation after voluntary contraction, which leads to symptoms of muscle stiffness, pain, fatigue, and weakness. Diagnosis is based on history and examination findings, the presence of electrical myotonia on electromyography, and genetic confirmation. In the absence of genetic confirmation, the diagnosis is supported by detailed electrophysiological testing, exclusion of other related disorders, and analysis of a variant of uncertain significance if present. Symptomatic treatment with a sodium channel blocker, such as mexiletine, is usually the first step in management, as well as educating patients about potential anesthetic complications.     

Electrical stimulation of the ventral tegmental area evokes sleep‐like state transitions under urethane anaesthesia in the rat medial prefrontal cortex via dopamine D1‐like receptors

The role of dopamine in regulating sleep‐state transitions during, both natural sleep and under anaesthesia, is still unclear. Recording in vivo in the rat mPFC under urethane anaesthesia, we observed predominantly slow wave activity (SWA) of <1 Hz in the local field potential interrupted by occasional spontaneous transitions to a low‐amplitude‐fast (LAF) pattern of activity. During periods of SWA, transitions to LAF activity could be rapidly and consistently evoked by electrical stimulation of the ventral tegmental area (VTA). Spontaneous LAF activity, and that evoked by stimulation of the VTA, consisted of fast oscillations similar to those seen in the rapid eye movement (REM)‐like sleep state. Spontaneous and VTA stimulation‐evoked LAF activity occurred simultaneously along the dorsoventral extent of all mPFC subregions. Evoked LAF activity depended on VTA stimulation current and could be elicited using either regular (25–50 Hz) or burst stimulation patterns and was reproducible upon repeated stimulation. Simultaneous extracellular single‐unit recordings showed that during SWA, presumed pyramidal cells fired phasically and almost exclusively on the Up state, while during both spontaneous and VTA‐evoked LAF activity, they fired tonically. The transition to LAF activity evoked by VTA stimulation depended on dopamine D₁‐like receptor activation as it was almost completely blocked by systemic administration of the D₁‐like receptor antagonist SCH23390. Overall, our data demonstrate that activation of dopamine D₁‐like receptors in the mPFC is important for regulating sleep‐like state transitions.     

Patient-reported burden of intensified surveillance and surgery in high-risk individuals under pancreatic cancer surveillance

Familial Cancer - In high-risk individuals participating in a pancreatic cancer surveillance program, worrisome features warrant for intensified surveillance or, occasionally, surgery. Our...     

Increased incidence of adenocarcinomas at the gastro-oesophageal junction in Dutch males since the 1990s

BACKGROUND: Worldwide population-based studies suggest that the incidence of oesophageal and gastric cardia adenocarcinomas has increased since the 1970s. OBJECTIVE AND METHODS: We studied time trends in mortality and incidence rates of oesophageal and gastric carcinomas according to subsite and histology in the south-east Netherlands since 1978. RESULTS: The age-adjusted mortality and incidence rates for oesophageal cancer doubled in males over the entire 19-year study period from 2.7 to 5.6 and from 2.4 to 4.8 per 100,000 person years, respectively. In females, a similar trend for the mortality and incidence rates was seen, but at a lower level. The age-adjusted mortality and incidence rates for gastric cancer decreased with time from 20.7 to 12.8 and from 21.6 to 15.9 per 100,000 person years in males, respectively. In females, age-adjusted mortality and incidence rates for gastric cancer also decreased. Analysis of incidence rates by subsite and subtype showed an increase in adenocarcinomas of the oesophagus and gastric cardia, largely restricted to males. In females, the rise in incidence of squamous cell carcinoma of the oesophagus appeared to be more marked than the rise in adenocarcinomas, whereas the incidence of gastric cardia carcinomas has remained stable over the last 10 years. Neither the decrease in the number of unspecified tumours with time, nor the increase in the use of diagnostic endoscopy and imaging techniques, is likely to explain completely the observed increases. CONCLUSION: The increase in incidence of adenocarcinomas at the gastro-oesophageal junction in the south-eastern Netherlands seems, at least in part, to represent a true underlying increase that is restricted largely to males.     

Functional MRI assessment of orofacial articulators: neural correlates of lip, jaw, larynx, and tongue movements

Compared with complex coordinated orofacial actions, few neuroimaging studies have attempted to determine the shared and distinct neural substrates of supralaryngeal and laryngeal articulatory movements when performed independently. To determine cortical and subcortical regions associated with supralaryngeal motor control, participants produced lip, tongue and jaw movements while undergoing functional magnetic resonance imaging (fMRI). For laryngeal motor activity, participants produced the steady-state/i/vowel. A sparse temporal sampling acquisition method was used to minimize movement-related artifacts. Three main findings were observed. First, the four tasks activated a set of largely overlapping, common brain areas: the sensorimotor and premotor cortices, the right inferior frontal gyrus, the supplementary motor area, the left parietal operculum and the adjacent inferior parietal lobule, the basal ganglia and the cerebellum. Second, differences between tasks were restricted to the bilateral auditory cortices and to the left ventrolateral sensorimotor cortex, with greater signal intensity for vowel vocalization. Finally, a dorso-ventral somatotopic organization of lip, jaw, vocalic/laryngeal, and tongue movements was observed within the primary motor and somatosensory cortices using individual region-of-interest (ROI) analyses. These results provide evidence for a core neural network involved in laryngeal and supralaryngeal motor control and further refine the sensorimotor somatotopic organization of orofacial articulators.