Horner syndrome

Horner syndrome is an uncommon but important clinical entity, representing interruption of the sympathetic pathway to the eye and face. Horner syndrome is almost always diagnosed clinically, though pharmacological testing can be used to confirm the diagnosis. Imaging modalities such as PET, CT and MRI are important components of work‐up for patients presenting with acquired Horner syndrome. Our patient’s presentation with Horner syndrome unmasked the causative superior sulcus squamous cell carcinoma and a coincidental lower lobe adenocarcinoma. Successful radical treatment of these cancers resulted in complete resolution of the syndrome and disease‐free survival at 18 months. We review the anatomy and pathophysiology underlying this and other causes of Horner syndrome.     

Role of dietary fat in calorie intake and weight gain

This paper reviews the literature on the role of dietary fat in calorie intake and body weight gain in humans and laboratory animals. An overview of 40 animal studies which compared growth on high-fat (HF) and high-carbohydrate (HC) solid/powdered diets indicated that the HF diet elicited greater weight gain in 33 out of 40 studies. Enhanced growth on the HF diet was often, but not exclusively, attributable to greater caloric intake. Additional evidence for the growth-enhancing effect of HF diets emerges from "diet option" and "supermarket" feeding studies in rats, and experimental and epidemiological studies in humans. Three principal factors that contribute to the different responses to HF and HC diets are (a) caloric density, (b) sensory properties and palatability, and (c) postabsorptive processing. It is concluded that both calorie intake and metabolic energy expenditure are biased towards weight gain when a HF diet is consumed, and that the high caloric density of high-fat diets plays a primary role in weight gain. Humans may be biologically predisposed to gain weight when a HF diet is consumed.     

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing

Leukodystrophies are a heterogeneous group of heritable disorders characterized by abnormal brain white matter signal on magnetic resonance imaging (MRI) and primary involvement of the cellular components of myelin. Previous estimates suggest the incidence of leukodystrophies as a whole to be 1 in 7,000 individuals, however the frequency of specific diagnoses relative to others has not been described. Next generation sequencing approaches offer the opportunity to redefine our understanding of the relative frequency of different leukodystrophies. We assessed the relative frequency of all 30 leukodystrophies (associated with 55 genes) in more than 49,000 exomes. We identified a relatively high frequency of disorders previously thought of as very rare, including Aicardi Goutières Syndrome, TUBB4A‐related leukodystrophy, Peroxisomal biogenesis disorders, POLR3‐related Leukodystrophy, Vanishing White Matter, and Pelizaeus‐Merzbacher Disease. Despite the relative frequency of these conditions, carrier‐screening laboratories regularly test only 20 of the 55 leukodystrophy‐related genes, and do not test at all, or test only one or a few, genes for some of the higher frequency disorders. Relative frequency of leukodystrophies previously considered very rare suggests these disorders may benefit from expanded carrier screening.     

Wide Awake Open Carpal Tunnel Release: The Effect of Local Anesthetics in the Postoperative Outcome

Introduction  Wide awake open carpal tunnel decompression is a procedure performed under local anesthesia. This study aimed to present the effect of various local anesthetics in peri and postoperative analgesia in patients undergoing this procedure. Materials and Methods  A total of 140 patients, with 150 hands involved, underwent carpal tunnel release under local anesthesia. Patients were divided in five groups according to local anesthetic administered: lidocaine 2%, ropivacaine 0.75%, ropivacaine 0.375%, chirocaine 0.5%, and chirocaine 0.25%. Total 400 mg of gabapentin were administered to a subgroup of 10 cases from each group (50 cases totally), 12 hours before surgery. Patients were evaluated immediately, 2 weeks and 2 months after surgery according to VAS pain score, grip strength, and two-point discrimination. Results  In all patients, pain and paresthesia improved significantly postoperatively, while the use of gabapentin did not affect outcomes. Grip strength recovered and exceeded the preoperative value 2 months after surgery, without any difference between the groups. No case of infection, hematoma, or revision surgery was reported. Conclusion  Recovery after open carpal tunnel release appears to be irrelevant of the type of local anesthetic used during the procedure. Solutions of low local anesthetic concentration (lidocaine 2%, ropivacaine 0.375%, and chirocaine 0.25%) provide adequate intraoperative analgesia without affecting the postoperative course.     

Peripheral and central hearing impairment and their relationship with cognition: a review

Objective: To consider the relationships between both peripheral and central hearing impairment and cognition.

Design: Narrative review.

Study sample: Numerous studies exploring the relationship between hearing impairment and cognitive function, particularly in an older population.

Results: In addition to the well-documented relationship between peripheral hearing loss and cognition highlighted in previous comprehensive reviews, there is also some evidence to suggest that there is a relationship between central hearing impairment and cognition. Further research is required to better understand this relationship and its effects on hearing aid benefit in people with both peripheral hearing loss and central hearing impairment.

Conclusions: To fully understand the relationship between hearing impairment and cognitive impairment, not only peripheral but central hearing needs to be considered. Such knowledge could be of benefit in the clinical management of people with both peripheral hearing loss and central hearing impairment.     

Elevated L-lactate Promotes Major Cellular Pathologies Associated with Neurodegenerative Diseases

Dear Editor,Small,short-chain fatty acids(SCFAs)(acetic acid,propionic acid,and butyric acid:conjugate bases,acetate,propionate,and butyrate)as well as the alpha-hydroxy acid,L-lactic acid(conjugate base,L-lactate)are important energy substrates and signaling molecules in the central nervous system(CNS)[1,2].L-lactic acid is produced by glycolysis[3]and gut microbes[4]and is released in large quantities during exercise[5].     

Family mealtime emotions and food parenting practices among mothers of young children: Development of the Mealtime Emotions Measure for Parents (MEM‐P)

Family mealtimes can be important for supporting children''s healthy development, yet the emotional context of mealtimes can vary considerably, likely impacting their overall success and enjoyment. Yet, despite having an important role, little is known about how parents emotionally experience mealtimes with their family. The first aim of the current study was to assess the factor structure of a novel self‐report measure to assess parents’ emotional responses experienced during family mealtimes (Mealtime Emotions Measure for Parents; MEM‐P). The second aim was to examine relationships between maternal mealtime emotions and their food parenting practices. Mothers of children aged between 1.5 and 6 years participated in this study. Mothers were invited to complete an online questionnaire measuring family mealtime emotions, anxiety, depression and food parenting practices. Exploratory factor analysis produced a three‐factor solution comprising both positive and negative emotion subscales: MEM‐P Efficacy; MEM‐P Anxiety; MEM‐P Stress and Anger. Mothers'' positive mealtime emotions (mealtime efficacy) were related to greater use of practices promoting autonomy, providing a healthy home food environment, and modelling healthy eating. Higher anxiety about mealtimes was related to greater reports of child control over eating, and mealtime stress and anger was associated with greater use of food to regulate emotions. These findings highlight novel relationships between how mothers emotionally experience family mealtimes and the food parenting practices they use with their children. It is important to develop resources to help promote positive maternal experiences of family mealtimes and food‐based interactions.