MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome.

SGPL1 encodes sphingosine-1-phosphate lyase, the final enzyme of sphingolipid metabolism. In 2017, a condition featuring steroid-resistant nephrotic syndrome and/or adrenal insufficiency associated with pathogenic SGPL1 variants was reported. In addition to the main features of the disease, patients often exhibit a range of neurologic deficits. In a handful of cases, brain imaging results were described. However, high-quality imaging results and a systematic analysis of brain MR imaging findings associated with the condition are lacking. In this study, MR images from 4 new patients and additional published case reports were reviewed by a pediatric neuroradiologist. Analysis reveals recurring patterns of features in affected patients, including isolated callosal dysgenesis and prominent involvement of the globus pallidus, thalamus, and dentate nucleus, with progressive atrophy and worsening of brain lesions. MR imaging findings of abnormal deep gray nuclei, microcephaly, or callosal dysgenesis in an infant or young child exhibiting other typical clinical features of sphingosine-1-phosphate lyase insufficiency syndrome should trigger prompt genetic testing for SGPL1 mutations.

Safety and Diagnostic Efficacy of Gadobenate Dimeglumine in MRI of the Brain and Spine of Neonates and Infants.

BACKGROUND AND PURPOSE: Contrast-enhanced MR imaging provides essential information for pediatric imaging applications. We evaluated gadobenate dimeglumine for contrast-enhanced MR imaging of infants younger than 2 years of age. MATERIALS AND METHODS: Ninety children younger than 2 years of age (including 55 children younger than 1 year) who underwent enhanced MR imaging of the CNS with gadobenate dimeglumine at 0.1 mmol/kg body weight ± 25% by volume were retrospectively enrolled at 2 imaging centers. Safety data were assessed for adverse events and, when available, vital signs and electrocardiogram and clinical laboratory values obtained from 48 hours before until 48 hours after the MR imaging examination. The efficacy of gadobenate dimeglumine-enhanced MR imaging was evaluated prospectively by 3 blinded, unaffiliated readers in terms of the accuracy of combined pre- and postcontrast images relative to precontrast images alone for differentiation of tumor from non-neoplastic disease and the correct diagnosis of specific disease. Differences were tested using the McNemar test. A possible effect of dose on diagnostic accuracy was assessed using the Fisher exact test. RESULTS: Nine nonserious adverse events were reported for 8 (8.8%) patients. Five adverse events occurred in patients 12 months of age or older. All events occurred at least 24 hours after gadobenate dimeglumine administration, and in each case, the investigating radiologist considered that there was no reasonable possibility of a relationship to gadobenate dimeglumine. No clinically meaningful changes in vital signs, electrocardiogram results, or laboratory parameters were reported. Accurate differentiation of tumor from non-neoplastic disease and exact matching of each specific MR imaging-determined diagnosis with the on-site final diagnosis were achieved in significantly more patients by each reader following evaluation of combined pre- and postcontrast images relative to precontrast images alone (91.0%-94.4% versus 75.3%-87.6%, P < .04, and 66.3%-73.0% versus 52.8%-58.4%, P < .02, respectively). No significant differences (P > .133) in diagnostic accuracy were noted between patients receiving ≤0.08 mmol/kg of gadobenate dimeglumine and patients receiving >0.08 mmol/kg of gadobenate dimeglumine. CONCLUSIONS: Gadobenate dimeglumine is safe and effective for pediatric MR imaging.

Syringomyelia Fluid Dynamics and Cord Motion Revealed by Serendipitous Null Point Artifacts during Cine MRI.

Dynamic MR imaging was used to evaluate a cervical syrinx in an adolescent boy with an associated hindbrain herniation. Null artifacts were present on one of the sequences that allowed simultaneous high-resolution visualization of syrinx fluid motion and the anatomy of the syrinx walls. A brief review of the theories of syrinx formation and propagation is provided with a comment on why the Williams "slosh" theory of syrinx progression is supported by our unique imaging.

Treatment of canine cranial cruciate ligament disease. A survey of ACVS Diplomates and primary care veterinarians.

OBJECTIVE: To describe veterinarians' treatment recommendations and decision-making factors for dogs with cranial cruciate ligament disease (CCLD). METHODS: An online survey of American College of Veterinary Surgeons (ACVS)-Diplomates (surgeon group) and primary care veterinarians (practitioner group) was performed. The survey included questions on treatment recommendations for common case scenarios (small or large breed dog with complete or partial CCLD), treatment decision factors, non-surgical treatment options, and actual treatment, if any, provided for a client-owned dog as well as one owned by their family or close friend. RESULTS: The response rate was 42% for the surgeon group (n = 305/723) and four percent for the practitioner group (n = 1145/ 27,771). Extracapsular stabilization (ES) was the most common treatment recommendation for CCLD in small (9.1 kg) breed dogs amongst surgeons and practitioners. Tibial plateau levelling osteotomy (TPLO) was the most common treatment recommendation for CCLD in large (27.2 kg) breed dogs amongst both groups. The two most important treatment decision factors were dog size (78% of practitioners, 69% of surgeons) and activity level (63% of practitioners, 52% of surgeons). The most common treatment provided for a dog of their own or close relation in the surgeon group was TPLO (64%) followed by ES (15%), whereas in the practitioner group it was ES (38%) followed by TPLO (30%). CLINICAL SIGNIFICANCE: Extracapsular stabilization and TPLO are the most commonly employed surgical procedures in the surveyed population; dog size and activity level (but not age) are the major factors influencing treatment decisions.

Generalised cranial artery spasm in human rabies.

In 2004, a teenager survived bat-associated rabies through the Milwaukee protocol (MP). This survivor and another patient with dog-associated rabies were found to have developed deficiencies of tetrahydrobiopterin (BH4) and associated neurotransmitters. BH4 is also essential for neuronal nitric oxide synthase (nNOS), so rabies is predicted to cause constriction of cerebral arteries. We assume that rabies virus, which almost exclusively targets neurons, would disproportionately affect cerebral over systemic perfusion by disrupting nNOS and lead to generalised cerebral artery spasm. Cranial artery vasospasm, therefore, was actively sought in two rabies patients, with the intention to specifically treat with BH4 and L-arginine when necessary. Flow velocities and resistive (RI) or pulsatility indices (PI) of middle cerebral arteries (MCA) were obtained by transcranial doppler ultrasound (TCD). A survival analysis of 8 attempts at the MP is presented. Of these, two cases are reported here. The first case is one child with bat-associated rabies who developed severe bilateral MCAspasm on hospital day (HD)-10 that responded to very low dose (0.2 mcg/kg/min) nitroprusside. The second case, a child with dog-associated rabies, developed spasm of MCA on HD-6 that responded to 6 mg/kg/day BH4. A second spasm with high RI (without cerebral oedema or increased intracranial pressure) responded to 20 mg/kg/day BH4 and 0.5 g/kg/dose L-arginine. Review of the TCD of the first child showed a similar second spasm seven days after first episode. Cerebral artery vasospasm occurred in the two children with rabies, but was clinically silent by standard monitoring. Spasm responded to drugs directed at the NOS pathway. Animal models for treatment of rabies are sorely needed to evaluate therapy.

[Psychological implications of sport and aging--a neglected research field]. / Psychologische Implikationen des Alterssports--Ein bislang weitgehend vernachlässigtes Forschungsfeld.

Since the 1990s, sport and aging is increasingly in the focus of psychological research. Besides motivational aspects the main attention lies on the positive influence of sporting activity on physical and psychological health. Thus, ageing and sports is mostly considered under functional aspects. The aim to compensate deficits through sports in the elderly reflects the socially widespread pictures of age (frailness) and sport (capability, youthfulness). In this article the deficit model with the associated clichés is questioned on the background of the latest research. The author argues for a more differentiated and constructive view on sport and aging and to take into consideration the specific needs of older people.

Evaluation of selective media for Campylobacter isolation when cycloheximide is replaced with amphotericin B.

AIMS: Laboratory media for the isolation of Campylobacter usually contain various selective agents, designed to allow these bacteria to grow whilst suppressing that of other organisms. For example, cycloheximide has often been incorporated into Campylobacter media to inhibit the growth of fungi. The production and availability of cycloheximide, however, has recently decreased due to concerns relating to its potential toxicity for mammalian cells and the compound has also become more expensive as a result. An alternative antifungal agent is necessary, and to address this, the effect of using amphotericin B in place of cycloheximide in Campylobacter selective broths and agars was examined. METHODS AND RESULTS: The growth of Campylobacter strains and the suppression of potential competitor organisms in selective broths or on selective agars containing either amphotericin B or cycloheximide was quantified, using pure microbial cultures. The results were then confirmed by testing food and water samples that contained high levels of micro-organisms, including Campylobacter. CONCLUSIONS: The results of this study indicate that amphotericin B is a suitable replacement for cycloheximide in Campylobacter selective media.

Comparison of three enrichment media for the isolation of Campylobacter spp. from foods.

AIM: This study compared the performance of three Campylobacter enrichment broths: Bolton broth (BB), Campylobacter Enrichment broth (CEB) and Preston broth (PB). METHODS AND RESULTS: Pure cultures of target and competitor organisms, and naturally-contaminated food samples, were used to establish the performance of these media. In pure culture the PB supported the growth of the greatest number of strains of Campylobacter spp. but failed to inhibit some competitor organisms. The CEB showed the opposite result, inhibiting all 15 competitor organisms used but failing to support the growth of five Campylobacter strains. By comparison, BB showed the best compromise between inhibition of competitors and growth of Campylobacter. CONCLUSIONS: Plates inoculated with BB and CEB food enrichments resulted in more Campylobacter growth than those inoculated with PB, which supported significantly less typical growth (P < or = 0.001). The most common competitor organism isolated from PB was Escherichia coli, and Pseudomonas spp. were frequently isolated from BB and CEB. Both BB and CEB were better than PB for the isolation of Campylobacter from naturally-contaminated foods, although BB yielded more confirmed Campylobacter growth than CEB. SIGNIFICANCE AND IMPACT OF THE STUDY: This study highlighted differences in performance of media used to isolate Campylobacter spp. from foods.

Isolation of sublethally injured campylobacters from poultry and water sources.

Campylobacters are the most common cause of bacterial food poisoning in the UK and are prominent in many other countries worldwide. Sources that have acted as vehicles of infection in many outbreaks include milk, water and poultry, and these may contain campylobacter cells that are sublethally injured and not detected by routine laboratory techniques. Current culture media contain antibiotics to suppress competing flora, and injured campylobacter cells are more sensitive to the antibiotics used and may not grow in these selective media. Therefore, the use of selective broth as the primary culture medium may reduce the isolation rate from samples containing injured cells. To examine this, various experiments were carried out using naturally contaminated river water and fresh chicken samples. In these samples, campylobacter cells showed varying degrees of sublethal injury, with the greatest found in water. A delay of four to eight hours before adding antibiotics to broth significantly increased isolation rate, compared with direct culture in selective broth. With chicken, however, significantly better results were obtained with selective broth as the primary medium.

Contamination of hands and work surfaces with Salmonella enteritidis PT4 during the preparation of egg dishes.

Salmonella enteritidis PT4 was recovered from fingers following the breaking of intact shell eggs artificially contaminated in the contents with the bacterium. Kitchen utensils used to mix egg dishes were salmonella-positive, sometimes after washing. Following the preparation of batter or the mixing of eggs, S. enteritidis was recovered from work surfaces over 40 cm from the mixing bowl. The bacterium survived well in thin, dry films of either batter or egg and, from an initial level of one cell per cm2, could be recovered from formica work surfaces 24 h after contamination.

Intimal hyperplasia is reduced by ornithine decarboxylase inhibition.

Polyamines are intracellular cations that are thought to play a role in the regulation of cell growth and differentiation. This study was undertaken to determine if inhibition of ornithine decarboxylase (ODC), the rate-limiting enzyme of polyamine synthesis, suppresses formation of intimal hyperplasia (IH) after arterial injury. Twenty New Zealand white rabbits underwent balloon catheter deendothelialization of a common carotid artery. Treated animals (n = 10) were given alpha-difluoromethylornithine (DFMO), an inhibitor of ODC, ad lib in drinking water as a 2% solution. DFMO was begun 3 days prior to surgery and continued until vessel harvest. Vessels were perfusion-fixed at harvest, 2 (n = 10) and 4 (n = 10) weeks postoperatively. All arteries remained patent. There were no histologic differences in the IH between treated and untreated animals. The intima and media surface areas on serial arterial cross sections were determined using computer-assisted planimetry. There was a significant difference in the IH surface area of injured arteries between untreated and DFMO-treated animals at both 2 (17.6 +/- 2.0 vs 3.0 +/- 1.6 microns 2; P less than or equal to 0.001) and 4 weeks 27.4 +/- 5.6 vs 7.1 +/- 1.8 microns 2; P less than or equal to 0.008). No differences were seen in medial thickness. We conclude that ODC inhibition reduces early development of IH after arterial deendothelialization. These data support the hypothesis that polyamines may be cellular messengers involved in the regulation of IH formation.

Acute renal infarction: diagnosis by Doppler ultrasound.

A young infant undergoing balloon angioplasty for pulmonic stenosis developed global right renal infarction as a complication of cardiac catheterization via the femoral vein. A second patient developed segmental infarction of a recently transplanted kidney due to occlusion of a polar artery. Although routine renal sonography of these patients was normal, duplex Doppler sonography documented the absence of renal arterial and venous flow.

Normal and abnormal pancreas in children: US studies.

The real-time ultrasound images of the pancreas in 273 children without pancreatic disease were prospectively analyzed to determine the normal appearance of the pancreas. The dimensions of the head, body, and tail of the pancreas were correlated with patient age, weight, height, and body surface area. Correlation between pancreatic dimensions and patient age was as good as or better than that obtained with the other physical parameters. In general, the normal pancreas had a similar sized head and tail with a thinner body as compared with the abnormal pancreas, and an echogenicity that was equal to or slightly greater than that of the liver. Analysis of the images of 13 patients with pancreatitis showed that the presence of a dilated main pancreatic duct was the most useful feature in suggesting an abnormality. Evaluation of pancreatic size, configuration, and echogenicity was not reliable in the differentiation of the normal from the abnormal pancreas.

Sciatic artery aneurysms: report of three cases and review of the literature.

Sciatic artery aneurysms (SAAs) develop in a persistent sciatic artery, which is a congenital anomalous continuation of the internal iliac artery and may be the major blood supply to the lower extremity. SAAs may appear clinically with rupture, thrombosis, distal embolization, or compression of the sciatic nerve. We have reviewed our three cases and the literature to delineate those factors that permit correct preoperative diagnosis and appropriate surgical intervention. Our three patients (aged 54 to 82 years) appeared with severe ischemia that resulted in above-knee amputations. The literature reveals 21 patients ranging in age from 35 to 84 years (58% were women). Twenty of those patients had operations, one of which resulted in death, and five in above-knee amputations. Unexplained sciatic or buttock pain, or a palpable "pulsating" buttock mass, suggests an SAA. The diagnosis is confirmed by angiography. The recommended treatment is femoropopliteal bypass grafting followed by ligature or percutaneous endovascular thrombosis of the aneurysm. Early diagnosis and correct surgical therapy are the keys to successful management of SAA.

Demonstration of a splenic artery pseudoaneurysm by MR imaging.

The magnetic resonance (MR) features of a splenic artery pseudoaneurysm are described in a patient with recurrent pancreatitis. Correlation of MR, CT, and pathologic findings is made, and the advantage of MR imaging for the diagnosis of vascular abnormalities is outlined.