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Angela C Gauthier, Oluseye K Oduyale, Michael J Fliotsos, Sidra Zafar, Nicholas R Mahoney, Divya Srikumaran, Fasika A Woreta Wilmer Eye Institute, Johns Hopkins School of Medicine, Baltimore, MD, USACorrespondence: Fasika A WoretaWilmer Eye Institute, Johns Hopkins School of Medicine 600 North Wolfe Street, Baltimore, MD 21205, USATel +1 410-961-2868Fax +1 410-614-9632Email fworeta1@jhmi.eduPurpose: To investigate the frequency of primary versus secondary eye removal, frequency of enucleation versus evisceration, and characteristics and outcomes of patients undergoing these procedures after presenting with severe ocular trauma.Patients and Methods: Retrospective chart review of patients presenting to the emergency department (ED) with severe eye trauma necessitating enucleation or evisceration between 2010 and 2018.Results: There were 92 eyes from 90 patients included in our study. Twenty-seven percent of eyes underwent primary removal (n=25, 14 enucleation, 11 evisceration), while 73% of eyes underwent secondary removal (n=67, 50 enucleation, 17 evisceration). The mean patient age was 45.2 years (range 4.2– 92.6); primary enucleation/evisceration patients were older on average than secondary eye removal patients [53.8 years (range 15.9– 91.2) versus 42.2 years (range 4.2– 91.6 years), p=0.04]. A median of 34 days passed between ED presentation and secondary enucleation/evisceration. Before undergoing secondary enucleation/evisceration, patients underwent a median of one ocular procedure (range 0– 14) for various complications of trauma including orbital infection, choroidal or retinal tear or detachment, and wound dehiscence. Open globe injury repairs comprised 43 of the 92 total procedures (47%) performed prior to secondary enucleation/evisceration. Secondary enucleations/eviscerations required a median of seven clinic visits compared to two clinic visits required after primary surgeries (p< 0.01). 10.7% of all patients (n=10) had at least one implant-related complication following enucleation/evisceration, with all but one of these patients being in the secondary enucleation/evisceration group.Conclusion: Primary enucleation or evisceration was performed in 27% of all eye removals, and enucleation was performed in 69.6% of all eye removals. Future research is warranted to determine if primary eye removal may be appropriate and when to consider enucleation versus evisceration.Keywords: evisceration, enucleation, open globe repair, traumatic eye injury

Angela C Gauthier, Ron A Adelman Department of Ophthalmology and Visual Science, Yale School of Medicine, New Haven, CT, USAPatients who have undergone surgical treatment for retinal detachment may have significantly impaired visual-related quality of life.1 Although there are many studies that compare the visual outcomes and anatomical success of scleral buckle and pneumatic retinopexy in treating retinal detachment, there are inadequate data contrasting quality of life measures between these two approaches.2,3 A recent Cochrane review found that patients who underwent pneumatic retinopexy may be more likely to have recurrence of detachment but less likely to have choroidal detachment or a myopic shift than those who had scleral buckle.4 They concluded that there is still a dearth of important patient-centered information such as quality of life outcomes with these procedures.4 This study aimed to compare quality of life between patients who underwent scleral buckle or pneumatic retinopexy for treatment of rhegmatogenous retinal detachment.

Olfaction acuity, which includes detection thresholds, discrimination and identification, appears to decline with age, obesity, and various neurological disorders. Knowing that smell influences energy intake, there is a growing interest in protecting this sense. Physical activity could be a key intervention to counteract the loss of olfaction. This systematic review aims to explore the literature on the effect of physical activity on olfaction acuity. The search strategy consisted of using index terms and keywords in MEDLINE, EMBASE, EBM Reviews - Cochrane Central Register of Controlled Trials, CINAHL, SPORTDiscus, and Web of Science search engine. Data from 17 trials involving 10,861 participants showed that physical activity improved olfaction thresholds, discrimination, identification and perceived intensity. Regular practice of physical activity seemed to have better effects on olfaction components than acute exercise. Although this review has clarified the evidence on the effects of physical activity on olfaction, better methodological consistency is needed., Competing Interests: Declaration of competing interest The authors declare that they have no competing interests., (Copyright © 2024. Published by Elsevier Inc.)

Purpose: Exercise seems to influence taste, but the effect of exercise on specific tastes is still to be elucidated among youths., Methods: Athlete boys aged 14-16 years were recruited. Participants (n = 19) ages ranged 14.7 (0.7) years, weight 59.6 (7.8) kg, and height of 173.4 (7.9) cm. Distinct taste tests were administered using low and high concentrations of sweet, salty, and bitter solutions before and after a 30-minute aerobic exercise session (70%-90% of estimated maximal heart rate). McNemmar tests, standard paired t tests, Wilcoxon signed-rank tests, and Cohen d effect size tests were used to analyze taste identification, intensity, and appreciation., Results: There were no significant differences in taste identification capacities after exercise. Participants perceived more intense (P = .037) and appreciated better (P = .004) the low-concentration sweet solution after exercise. Taste appreciation was increased for the high-concentration sweet solution (P = .009) after exercise. Effect sizes were moderate (0.516-0.776). Possible effects were noted for the intensity of salty solutions (P = .0501 and .0543)., Conclusion: Following an exercise session, participants had increased perceived intensity and appreciation of sweet solutions. This adds new insights into how exercise influences taste in youths, a topic less documented compared with adults, suggesting further research into its impact on dietary choices is needed.

Introduction: Overall physical activity (PA) has been linked to decreased olfactory dysfunction and could improve olfactory function. Additionally, decreased olfactory function can contribute to reduced overall PA levels, given its association with neurodegenerative disorders. This study aims to examine the relationship between specific PA parameters (duration, frequency, intensity) and olfactory function in adults., Methods: A total of 3,527 participants from the National Health and Nutrition Examination Survey (NHANES) 2013-2014 underwent assessments for weekly PA duration, frequency, and intensity, alongside a smell test (including odors such as chocolate, strawberry, grape, onion, smoke, natural gas, leather, and soap). Correlation analyses and binary logistic regressions using SPSS were used to evaluate associations., Results: The total smell score exhibited small yet significant positive correlations with the duration, frequency, and volume of moderate PA (correlation coefficients ranging between 0.05 and 0.08; all p  ≤ 0.05) and frequency of vigorous PA (correlation coefficient of 0.05; p  < 0.05). For moderate PA, the duration, frequency, and volume were significantly and positively associated with the ability to correctly detect the smell of grapes while the frequency was significantly and positively associated with the ability to identify smoke and leather odors (odds ratios ranging from 1.01 to 1.07; p  < 0.05). For vigorous PA, the frequency of PA was positively associated with the detection of grape smell (odds ratio of 1.05; p  < 0.05)., Conclusion: Some parameters of an active lifestyle are associated with improved odds of accurately identifying odors by up to 7.4%. Moderate PA duration, frequency, and volume were linked to better olfactory scores, while high-intensity PA had limited associations., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2024 Namiranian, Gauthier, Gilbert and Mathieu.)

Fewer and fewer people are reaching physical activity recommendations. Therefore, it seems important to make the practice of physical activity more enjoyable to increase the participation rate. Several environmental factors have been studied to see their impact on sports practice, and some studies investigated the effect of odors. This systematic review aims to provide a thorough view of the literature on the effect of different odors on physical activity. The search strategy consisted of using index terms and keywords in MEDLINE, EMBASE, EBM Reviews - Cochrane Central Register of Controlled Trials, CINAHL, SPORTDiscus, and Web of Science search engine. Data from 19 studies that included 458 participants revealed that the odors had different results on strength, cardiovascular, precision, and postural balance tasks depending on the odors' exposition. Among results, an important distinction was made between pleasant and unpleasant odors. Therefore, pleasant odors had better results on physical activity by improving participants' feeling. Even though this review clarified evidence about the effect of odors on physical activity, better methodological consistency is needed across studies such as the odor administration method to produce more meaningful results., Competing Interests: Declaration of Competing Interest The authors declare that they have no competing interests., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Introduction: Taste is a key sensory modulator of energy intake, and while the effects of acute physical activity (PA) on taste have been recently confirmed, its chronic effects remain poorly documented., Methods: Data were extracted from the NHANES database, including salty and bitter taste tests, moderate PA (MPA) and vigorous PA (VPA) levels, and anthropometric data. Binary logistic regressions were conducted, and odds ratios (ORs) represent the association between physical activity level and successful taste tests., Results: 3,114 participants (51.5% women, mean age 58.5±11.9 years, mean BMI 29.5±7.0 kg/m2) were analyzed. For the tongue tip test, the frequency of VPA was associated with a better score for the bitter and total taste test, while duration of VPA was associated with a better score for the bitter, salty, and total taste test (OR [1.01-1.06], p<0.05). For the whole mouth test, MPA frequency improved the bitter taste score (OR = 1.06, p = 0.01) while VPA frequency and duration were associated with better scores for bitter, salty, and total taste tests (OR [1.01-1.15], p<0.05). These findings were distinctively influenced by weight status and gender, with males and individuals without obesity mainly beneficiating from an active lifestyle., Perspectives: This study underlines the link between PA, particularly its frequency and intensity, and improved taste preservation. These findings emphasize the potential benefits of regular VPA for optimizing taste perception, although questions remain regarding the advantages for individuals with obesity and the lack of association observed in women who might already have a preserved profile., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2023 Gauthier et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Purpose: The purpose of this study was to determine the safety and outcomes of myopic laser in situ keratomileusis (LASIK) in patients who were secondarily diagnosed with hypermobile Ehlers-Danlos syndrome (EDS)., Methods: We conducted a case series study on patients with hypermobile EDS who underwent myopic LASIK surgery. Visual acuity, manifest refraction, a full dilated eye examination, biometry measurements, and Scheimpflug imaging were performed in the Wilmer outpatient clinic., Results: There were 24 eyes of 12 patients included in this study. All participants were White women with a mean age of 46.58 years (SD 8.91 years). Participants were seen at an average of 13.83 years (SD 4.3 years, range 6-21 years) after undergoing LASIK. None of the patients in the series had a diagnosis of hypermobile EDS before LASIK surgery. Overall, 92% of patients were happy they got LASIK. The uncorrected distance visual acuity was 20/20 or better in 68% of eyes, and the best-corrected visual acuity was 20/20 or better in 92% of eyes. Manifest refraction was within 1 diopter of plano in 79% of patients. Dry eye symptoms were present in 83% of patients, and 46% of eyes had either punctate epithelial erosions or decreased tear break-up time. One of the 12 patients developed corneal ectasia in both eyes., Conclusions: Patients with hypermobile EDS are generally satisfied with myopic LASIK correction, with good visual acuity outcomes and low rates of myopic regression. However, the risk of corneal ectasia may prevent laser vision correction from being a viable treatment option in these patients. Further studies are needed to make a definitive recommendation., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

The effect of physical exercise on nutrition has gained substantial interest in the last decade. Meaningful results have been produced concerning the effect of physical exercise on different appetite hormones and food choice/preference. While it is well known that taste and nutrition are related, the relation between taste and physical activity has not yet been fully explored. This systematic review aims to provide a detailed view of the literature on physical exercise and its effect on taste perceptions. Five tastes were included in this review: sweet, salty, bitter, sour, and umami. Sweet taste intensity, sensitivity, and preference were increased by acute physical exercise, but sweet preference was reduced by chronic physical activity. Perceived intensity and sensitivity decreased overall for salty taste, but an increased preference was noted during/following exercise. Sour taste intensity ratings were decreased following exercise and preference was enhanced. Umami taste intensity and sensitivity increased following exercise and preference was decreased. No significant results were obtained for bitter taste. While evidence regarding the effect of exercise on taste has arisen from this review, the pre-testing nutrition, testing conditions, type of test, and exercise modality must be standardized in order to produce meaningful and reproducible results in the future.

To evaluate the HLA typing performance of a new Long-Range PCR NGS set of reagents and its dedicated software, a panel of 41 reference homozygous cell lines from the International Histocompatibility Working Group (IHWG) and a panel of 376 volunteer bone marrow donors were analyzed for classical and non-classical HLA class I and class II genes. All results, except HLA-DPB1, were obtained without any ambiguities at the 3rd field level. Based on the high resolution performance of the reagents, a number of new alleles have been described not only for classical but also for non-classical HLA class I genes, leading to a more accurate haplotype definition. Linkage disequilibrium between HLA-A and HLA-G genes has been defined at 4th field level of resolution. Moreover, for the first time, HLA-DQA2 and DQB2 polymorphisms and their linkage disequilibrium with DQB1 were described., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2020 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.)

Childhood glaucoma is an important cause of blindness world-wide. Eleven genes are currently known to cause inherited forms of glaucoma with onset before age 20. While all the early-onset glaucoma genes cause severe disease, considerable phenotypic variability is observed among mutations carriers. In particular, FOXC1 genetic variants are associated with a broad range of phenotypes including multiple forms of glaucoma and also systemic abnormalities, especially hearing loss. FOXC1 is a member of the forkhead family of transcription factors and is involved in neural crest development necessary for formation of anterior eye structures and also pharyngeal arches that form the middle ear bones. In this study we review the clinical phenotypes reported for known FOXC1 mutations and show that mutations in patients with reported ocular anterior segment abnormalities and hearing loss primarily disrupt the critically important forkhead domain. These results suggest that optimal care for patients affected with anterior segment dysgenesis should include screening for FOXC1 mutations and also testing for hearing loss., (Copyright © 2019 Elsevier Ltd. All rights reserved.)

Malignant tumors of the central nervous system (CNS) cause substantial morbidity and mortality, yet efforts to optimize chemo- and radiotherapy have largely failed to improve dismal prognoses. Over the past decade, RNA sequencing (RNA-seq) has emerged as a powerful tool to comprehensively characterize the transcriptome of CNS tumor cells in one high-throughput step, leading to improved understanding of CNS tumor biology and suggesting new routes for targeted therapies. RNA-seq has been instrumental in improving the diagnostic classification of brain tumors, characterizing oncogenic fusion genes, and shedding light on intratumor heterogeneity. Currently, RNA-seq is beginning to be incorporated into regular neuro-oncology practice in the form of precision neuro-oncology programs, which use information from tumor sequencing to guide implementation of personalized targeted therapies. These programs show great promise in improving patient outcomes for tumors where single agent trials have been ineffective. As RNA-seq is a relatively new technique, many further applications yielding new advances in CNS tumor research and management are expected in the coming years., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Targeted chemotherapeutics provide a promising new treatment option in neuro-oncology. The ability of these compounds to penetrate the blood-brain barrier is crucial for their successful incorporation into patient care. "CNS Targeted Agent Prediction" (CNS-TAP) is a multi-institutional and multidisciplinary translational program established at the University of Michigan for evaluating the central nervous system (CNS) activity of targeted therapies in neuro-oncology. In this report, we present the methodology of CNS-TAP in a series of pediatric and adolescent patients with high-risk brain tumors, for which molecular profiling (academic and commercial) was sought and targeted agents were incorporated. Four of five of the patients had potential clinical benefit (partial response or stable disease greater than 6 months on therapy). We further describe the specific drug properties of each agent chosen and discuss characteristics relevant in their evaluation for therapeutic suitability. Finally, we summarize both tumor and drug characteristics that impact the ability to successfully incorporate targeted therapies into CNS malignancy management., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Eslicarbazepine acetate is a new anti-epileptic drug belonging to the dibenzazepine carboxamide family that is currently approved as adjunctive therapy and monotherapy for partial-onset (focal) seizures. The drug enhances slow inactivation of voltage-gated sodium channels and subsequently reduces the activity of rapidly firing neurons. Eslicarbazepine acetate has few, but some, drug-drug interactions. It is a weak enzyme inducer and it inhibits cytochrome P450 2C19, but it affects a smaller assortment of enzymes than carbamazepine. Clinical studies using eslicarbazepine acetate as adjunctive treatment or monotherapy have demonstrated its efficacy in patients with refractory or newly diagnosed focal seizures. The drug is generally well tolerated, and the most common side effects include dizziness, headache, and diplopia. One of the greatest strengths of eslicarbazepine acetate is its ability to be administered only once per day. Eslicarbazepine acetate has many advantages over older anti-epileptic drugs, and it should be strongly considered when treating patients with partial-onset epilepsy.

Generalized epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant condition often caused by mutations in SCN1A that usually first manifests as childhood simple febrile seizures but may progress to a variety of afebrile generalized seizure types. Here, we describe the case of an 8-year-old boy with a novel SCN1A mutation who developed febrile seizures at 10months of age which eventually advanced to frequent afebrile tonic-clonic seizures. His condition was unresponsive to several antiepileptic drugs and the ketogenic diet, and he experienced gradual cognitive decline. The patient's father carries the same novel mutation, but he only experienced childhood simple febrile seizures. SCN1A mutations display incomplete penetrance and variable expressivity, and the resulting severity may depend on the location and type of mutation, whether the mutation was spontaneous or inherited, and the effect of modifying alleles. The identification of novel pathogenic SCN1A mutations may eventually advance therapeutic development and prognostic capabilities., (Copyright © 2017 Elsevier Ltd. All rights reserved.)

Hashimoto's encephalopathy is a rare, imprecisely defined autoimmune neurologic syndrome associated with Hashimoto's thyroiditis that normally responds to corticosteroids. Here, we describe the case of a 55-year-old woman who presented with subacute cognitive decline and ataxia. Neoplastic, paraneoplastic, infectious, and metabolic etiologies were ruled out. Anti-TPO antibody level was markedly elevated at 966U/mL. After one month of 60mg/day of oral prednisone, she felt back to baseline and her Montreal Cognitive Assessment dramatically improved. Physicians should strongly consider this uncommon diagnosis in patients with rapid cognitive decline and no other clear etiology., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

Glaucoma is the most common cause of irreversible blindness worldwide. This neurodegenerative disease becomes more prevalent with aging, but predisposing genetic and environmental factors also contribute to increased risk. Emerging evidence now suggests that epigenetics may also be involved, which provides potential new therapeutic targets. These three factors work through several pathways, including TGF- β , MAP kinase, Rho kinase, BDNF, JNK, PI-3/Akt, PTEN, Bcl-2, Caspase, and Calcium-Calpain signaling. Together, these pathways result in the upregulation of proapoptotic gene expression, the downregulation of neuroprotective and prosurvival factors, and the generation of fibrosis at the trabecular meshwork, which may block aqueous humor drainage. Novel therapeutic agents targeting these pathway members have shown preliminary success in animal models and even human trials, demonstrating that they may eventually be used to preserve retinal neurons and vision., Competing Interests: The authors declare that there is no conflict of interests regarding the publication of this paper and they do not have proprietary interests related to the content of this paper.

Purpose: To report a case of iris non-Hodgkin lymphoma initially thought to be uveitis-glaucoma-hyphema (UGH) syndrome., Methods: We reviewed the clinical, radiographic, and histopathologic findings in a patient with recurrent hyphemas and increased ocular pressure who eventually was found to have a rapidly growing iris mass., Results: An 89-year-old man with a history of cataract extraction and mantle cell lymphoma developed recurrent hyphema, which was subsequently revealed to be due to an iris mass. A biopsy revealed non-Hodgkin lymphoma that could not be formally subclassified but was suspicious for mantle cell lymphoma. The tumor showed a partial response to ibrutinib., Conclusion: Iris lymphoma can masquerade as a cause of recurrent hyphema after cataract extraction. Ophthalmologists should be aware of this presentation, especially in patients with a history of lymphoma.

Glaucoma is the principal cause of irreversible blindness in the world. The disease leads to progressive optic nerve degeneration with a gradual loss of retinal ganglion cells. Neurodegeneration in glaucoma extends beyond the eye into the lateral geniculate nucleus and visual cortex, and the disease even shares some characteristics with other central nervous system degenerative disorders. Glaucoma destroys neurons through oxidative stress, impairment in axonal transport, neuroinflammation, and excitotoxicity. Autophagy may promote or inhibit disease progression. Currently, lowering intraocular pressure is the only way proven to delay glaucoma advancement. However, many new therapies are being developed, including antioxidants, adenosine receptor antagonists, Rho-pathway inhibitors, stem cell therapy, and neurotrophic factors. These therapies focus on neuroprotection, and they may eventually halt glaucoma progression or reverse the process of the disease itself.

Clobazam, a 1,5-benzodiazepine FDA-approved in 2011, is commonly used to treat anxiety and epilepsy. It has not associated with hypothermia until very recently, in a case report involving two pediatric patients. Here, we report the first case of hypothermia development in an adult patient with epilepsy associated with clobazam use. A couple months after starting clobazam, the patient started developing episodes of hypothermia every several weeks, with temperatures ranging from 90 °F-95 °F. Normothermia was achieved with Bair Hugger therapy. Thyroid-stimulating hormone and cortisol levels were normal, and there was no evidence of infection in most instances. After 11 total episodes of hypothermia over a year of clobazam use, the drug was discontinued. It has now been 7 months after discontinuation, and the patient has not experienced any more episodes of hypothermia. Early recognition of the link between clobazam and hypothermia may prevent avoidable Emergency Department visits and hospitalizations.

Glaucoma is one of the leading causes of blindness worldwide. Recent studies suggest that intraocular pressure (IOP) fluctuations, peaks, and rhythm are important factors in disease advancement. Yet, current glaucoma management remains hinged on single IOP measurements during clinic hours. To overcome this limitation, 24-hour IOP monitoring devices have been employed and include self-tonometry, permanent IOP, and temporary IOP monitoring. This review discusses each IOP measuring strategy and focuses on the recently FDA-approved contact lens sensor (CLS). The CLS records IOP-related ocular patterns for 24 hours continuously. Using the CLS, IOP-related parameters have been found to be associated with the rate of visual field progression in primary open-angle glaucoma, disease progression in primary angle-closure glaucoma, and various clinical variables in ocular hypertension. The CLS has been used to quantify blink rate and limbal strain and measure the circadian rhythm in a variety of disease states including normal-tension glaucoma and thyroid eye disease. The effects of various IOP-lowering interventions were also characterized using the CLS. CLS provides a unique, safe, and well-tolerated way to study IOP-related patterns in a wide range of disease states. IOP-related patterns may help identify patients most at risk for disease progression and assist with the development of tailored treatments.

Clobazam is an oral 1,5-benzodiazepine used worldwide for the treatment of many types of epilepsies, although it is currently only approved for Lennox-Gastaut syndrome in the USA. This anticonvulsant and anxiolytic therapeutic has repeatedly demonstrated great efficacy and a high safety profile in refractory epilepsy as well as in a few monotherapy trials in both children and adults. Clobazam allosterically activates the GABAA receptor, and it binds less to subunits that mediate sedative effects than other benzodiazepines. It acts quickly, maintaining a therapeutic effect for a long duration due to its active metabolite, N-desmethylclobazam. Dosage is between 5 mg and 40 mg a day, depending on patient weight, efficacy, and tolerability. Efficacy tolerance has not been a problem in the best studies. Clobazam has provided many benefits to epileptic patients. It should be used by clinicians early as an adjuvant therapy in the treatment of refractory epilepsy and even considered as monotherapy in a broad spectrum of epilepsy syndromes., (© 2015 John Wiley & Sons Ltd.)

Although both genetic and non-genetic factors are known to contribute to the occurrence of Attention-Deficit Hyperactivity/Disorder (ADHD), little is known about how they impact specific symptoms. We used a cross-fostering approach with an established animal model of ADHD, the Spontaneously Hypertensive Rat strain (SHR), to test the influence of genotype and maternal behavior on ADHD-related behaviors. SHRs and their normo-active genetic relative, Wistar Kyoto rats (WKY), were cross-fostered to an unfamiliar dam of either the same or different strain. Behavioral testing took place when the rats reached adulthood. Locomotor hyperactivity was completely dependent on the strain of the offspring. In contrast, social behavior was primarily determined by the strain of the mother, while attentional orienting behavior was influenced by both the strain of the offspring and the strain of the dam. Anxiety-related behavior was influenced by an interaction between offspring and dam strain., (© 2015 Wiley Periodicals, Inc.)

We have described two Aspergillus nidulans gene mutations, designated podB1 (polarity defective) and swoP1 (swollen cell), which cause temperature-sensitive defects during polarization. Mutant strains also displayed unevenness and abnormal thickness of cell walls. Un-polarized or poorly-polarized mutant cells were capable of establishing normal polarity after a shift to a permissive temperature, and mutant hyphae shifted from permissive to restrictive temperature show wall and polarity abnormalities in subsequent growth. The mutated genes (podB=AN8226.3; swoP=AN7462.3) were identified as homologues of COG2 and COG4, respectively, each predicted to encode a subunit of the multi-protein COG (Conserved Oligomeric Golgi) Complex involved in retrograde vesicle trafficking in the Golgi apparatus. Down-regulation of COG2 or COG4 resulted in abnormal polarization and cell wall staining. The GFP-tagged COG2 and COG4 homologues displayed punctate, Golgi-like localization. Lectin-blotting indicated that protein glycosylation was altered in the mutant strains compared to the wild type. A multicopy expression experiment showed evidence for functional interactions between the homologues COG2 and COG4 as well as between COG2 and COG3. To date, this work is the first regarding a functional role of the COG proteins in the development of a filamentous fungus., (Copyright © 2014 Elsevier Inc. All rights reserved.)