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https://www.readbyqxmd.com/read/28416537/anosmia-with-hypogonadism-but-not-kallmann-syndrome
#1
Adlyne Reena Asirvatham, Shriraam Mahadevan, Satishkumar Balasubramanian
No abstract text is available yet for this article.
April 17, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28411082/a-dominant-negative-fgfr1-mutation-identified-in-the-kallmann-syndrome-patient
#2
Hunjin Luo, Ruizhi Zheng, Yaguang Zhao, Jiayu Wu, Jie Li, Fang Jiang, Dan-Na Chen, Xiao-Tao Zhou, Jia-Da Li
Kallmann syndrome (KS) is characterized by isolated hypogonadotropic hypogonadism (IHH) with anosmia. Fibroblast growth factor receptor 1 (FGFR1) is one of KS-associated genes, account for approximately 10% of total patients. FGFR1 mutations have also been identified in more severe craniosynostosis syndromes, and a subset of craniosynostosis syndromes-associated FGFR1 mutations show dominant negative effect. In this study, we identified a novel FGFR1 mutation (c.867G>A; p.W289X) in a KS patient. The p.W289X mutation leads premature termination, producing a truncated FGFR1 without the transmembrane and intracellular domains...
April 11, 2017: Gene
https://www.readbyqxmd.com/read/28400098/olfactory-dysfunction-in-early-parkinson-s-disease-is-associated-with-short-latency-afferent-inhibition-reflecting-central-cholinergic-dysfunction
#3
Eungseok Oh, Jinse Park, Jinyoung Youn, Ji Sun Kim, Suyeon Park, Wooyoung Jang
OBJECTIVE: Our study aimed to determine whether the short latency afferent inhibition (SAI) response could be associated with the severity of olfactory dysfunction in PD patients. METHODS: A total of 71 PD patients and 20 controls were enrolled. All PD patients were classified into 3 groups by the severity of the olfactory deficit. Single-pulse transmagnetic stimulation (TMS) parameters and SAI were assessed. RESULTS: The integrated SAI in the PD with anosmia and PD with hyposomia groups was significantly less inhibited than that in the PD with normosmia and control groups [64...
March 18, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28390600/sox10-mutation-causes-waardenburg-syndrome-associated-with-distinctive-phenotypic-features-in-an-iranian-family-a-clue-for-phenotype-directed-genetic-analysis
#4
Nazanin Jalilian, Mohammad Amin Tabatabaiefar, Hossein Alimadadi, Mohammad Reza Noori-Daloii
BACKGROUND: Waardenburg syndrome (WS) is a neurocristopathy characterized by hearing impairment and pigmentary disturbances in hair, eyes, and skin. WS is clinically heterogeneous and can be subdivided into four major types (WS1-WS4) where WS4 or Shah-Waardenburg is diagnosed when WS2 is accompanied by Hirschsprung disease (HD). Mutations of SOX10, EDN3/EDNRB have been identified in association with WS4. This study was aimed to determine the pathogenic variant in an Iranian pedigree affected with WS4...
May 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28346647/validation-of-olfactory-threshold-testing-methods
#5
Alan Hirsch, Alexander Roussos, Sally Freels
In patients with chemosensory complaints, a head-to-head comparison of unilateral olfaction threshold testing with the Phenyl Ethyl Alcohol Smell Threshold Test (PEA) and the OLFACT-RL Odor Threshold Test (OLFACT-RL) was undertaken. The charts of 23 consecutive patients presenting with chemosensory complaints seen at the Smell and Taste Treatment and Research Foundation were reviewed and information extracted per Institutional Review Board guidelines. All patients had undergone olfactory testing with the PEA test and the OLFACT-RL test in accordance with their published administration manuals...
March 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28343725/newly-developed-method-for-mouse-olfactory-behavior-tests-using-an-automatic-video-tracking-system
#6
Hyung-Ju Cho, Yong Hyuk Lee, Bo Ra Kim, Hong-Kyung Kim, Hyo Jin Chung, Sang Chul Park, Je Kyung Seong, Joo-Heon Yoon, Chang-Hoon Kim
OBJECTIVE: The mouse is the most popular animal model in olfactory research. Behavior tests with odorants are essential for determining olfactory phenotype. To the best of our knowledge, the mouse olfactory behavior test has not been standardized, making the results vulnerable to inter-observer variation. We sought to develop a new mouse olfactory behavior test assessed by an automatic video tracking system with minimal inter-observer variation. METHODS: A video-tracking system was used to automatically track mouse behavior in standard breeding cages with C57BL/6N mice...
March 23, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28334861/defective-signaling-through-plexin-a1-compromises-the-development-of-the-peripheral-olfactory-system-and-neuroendocrine-reproductive-axis-in-mice
#7
Séverine Marcos, Carine Monnier, Xavier Rovira Algans, Corinne Fouveaut, Nelly Pitteloud, Fabrice Ango, Catherine Dodé, Jean-Pierre Hardelin
The olfacto-genital syndrome (Kallmann syndrome) associates congenital hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency and anosmia. This is a genetically heterogeneous developmental disease with various modes of transmission, including oligogenic inheritance. Previous reports have involved defective cell signaling by semaphorin-3A in the disease pathogenesis. Here, we report that the embryonic phenotype of Plxna1-/- mutant mice lacking plexin-A1 (a major receptor of class 3 semaphorins), though not fully penetrant, resembles that of Kallmann syndrome fetuses...
March 2, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28300715/operative-learning-curve-after-transition-to-endoscopic-transsphenoidal-pituitary-surgery
#8
Tasneem Shikary, Norberto Andaluz, Jareen Meinzen-Derr, Collin Edwards, Philip Theodosopoulos, Lee A Zimmer
OBJECTIVES: No clear consensus yet defines the endpoints for operative learning curves in the transition to minimally invasive endoscopic techniques. This retrospective review of our first 202 patients who underwent endoscopic pituitary resection examines the statistical learning curve related to operative times--a measure of our surgical team's efficiency and complication rates, a reflection of surgical skill and maturity. METHODS: Retrospective chart review included patient demographics, tumor type, operative times, complication rates, and follow-up...
March 11, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28258684/-inverted-papilloma-of-the-nasal-cavity-a-case-report
#9
Jadwiga Muszalska, Tomasz Zatoński
Inverted papilloma is a rare, benign sinonasal tumor. Its etiology is the most likely related to HPV infection. Inverted papilloma originates from the ciliated respiratory epithelium, typically from the lateral nasal wall. The tumor is characterized by endophytic growth inwards the stroma with adjacent tissues destruction. The clinical symptoms are non-specific, such as: unilateral obstruction of the nasal duct, rhinorrhoea, epistaxis and anosmia. The treatment consists in a complete surgical excision of the tumor...
February 20, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28239593/ectopic-esthesioneuroblastoma-of-the-sphenoclivus-a-rare-entity
#10
Farah Dayana Zahedi, Balwant Singh Gendeh, Salina Husain, Ramesh Kumar, Thean Yean Kew
Esthesioneuroblastoma is a rare malignant neoplasm of oflactory neuroepithelium and usually located at the olfactory cleft at superior nasal cavity. Ectopic localization of esthesioneuroblastoma is even rarer and usually posed with a diagnostic dilemma and delay in the diagnosis and management, We report a rare case of ectopic esthesioneuroblastoma of the sphenoclivus with the presentation of intermittent unilateral epistaxis, intermittent intractable headache without anosmia. Nasal endoscopy findings showed a pulsatile mass at the anterior face of the sphenoid sinus with extension posteriorly towards the clivus region and occupying the floor of the sphenoid sinus...
March 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/28236363/self-esteem-as-an-important-factor-in-quality-of-life-and-depressive-symptoms-in-anosmia-a-pilot-study
#11
Kathrin Kollndorfer, Johanna Reichert, Bettina Brückler, Vanessa Hinterleitner, Veronika Schöpf
OBJECTIVES: Previous research has reported a negative impact of olfactory dysfunction on quality of life and depressive symptoms. As self-esteem was identified as a contributing factor to depression, the present study aimed to investigate quality of life (QoL), depressive symptoms, and self-esteem in patients with smell loss. DESIGN: Prospective controlled study. SETTING: Department of Biomedical Imaging and Image-guided Therapy, Medical University of Vienna, in cooperation with the Department of Ear, Nose and Throat Diseases, Medical University of Vienna, Austria...
February 25, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28219749/behavioral-phenotypes-associated-with-mptp-induction-of-partial-lesions-in-common-marmosets-callithrix-jacchus
#12
Kimberley A Phillips, Corinna N Ross, Jennifer Spross, Catherine J Cheng, Alyssa Izquierdo, K C Biju, Cang Chen, Senlin Li, Suzette D Tardif
Parkinson's disease is a chronic neurodegenerative disorder with the core motor features of resting tremor, bradykinesia, rigidity, and postural instability. Non-motor symptoms also occur, and include cognitive dysfunction, mood disorders, anosmia (loss of smell), and REM sleep disturbances. As the development of medications and other therapies for treatment of non-motor symptoms is ongoing, it is essential to have animal models that aid in understanding the neural changes underlying non-motor PD symptoms and serve as a testing ground for potential therapeutics...
February 17, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28213192/trans-frontal-sinus-subcranial-approach-to-olfactory-groove-meningiomas-surgical-results-clinical-and-functional-outcome-in-a-consecutive-series-of-21-patients
#13
Lina Raffaella Barzaghi, Alfio Spina, Filippo Gagliardi, Nicola Boari, Pietro Mortini
BACKGROUND: The trans-frontal-sinus-subcranial approach (TFSSA) allows for direct exposure and removal of olfactory groove meningiomas (OGMs), without any brain retraction. Compared to other skull base approaches (like fronto-orbito-basal, transbasal, subcranial, fronto-orbito-zygomatic and one-and-half approach), it could offer the same advantages but it is less invasive. OBJECT: We report the results in a series of 21 consecutive patients harboring OGMs and operated through TFSSA, in order to propose a viable alternative approach...
February 14, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28145931/endoscopic-endonasal-transsphenoidal-approach-from-the-otolaryngologist-point-of-view
#14
Do Hyun Kim, Yong-Kil Hong, Sin-Soo Jeun, Jae-Sung Park, Dong-Jun Lim, Soo Whan Kim, Jin Hee Cho, Yong Jin Park, YulGyun Kim, Sung Won Kim
OBJECTIVE: In February 2009, the authors' center formed a team of neurosurgeons, otolaryngologists, endocrinologists, and radiologists to perform pituitary surgery using the endoscopic endonasal transsphenoidal approach (EETSA). This paper reviews the authors' experience with the technique, pathological outcomes, hormone profiles, and postoperative complications. METHODS: Between February 2009 and December 2015, 535 patients underwent the EETSA with 2-nostrils/4-hands surgery...
January 31, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28134639/complications-of-nasal-bone-fractures
#15
Kun Hwang, Seung Han Yeom, Suk Hyun Hwang
The aim of this study was to perform a systematic review of the treatment of nasal bone fractures. The search terms ("nasal bone fracture" AND complication) and ("nasal bone fracture" AND [anosmia OR olfaction OR olfactory nerve OR smell]) and (anosmia AND ["nasal preparation" OR "nasal antiseptics"]) were used to search PubMed and SCOPUS. Of the 500 titles, 40 full papers were reviewed. One paper was excluded, and 3 mined papers were added. Ultimately, 12 papers were analyzed. The overall deformity rate was 10...
January 27, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28128693/endoscopic-endonasal-versus-transcranial-approach-to-tuberculum-sellae-and-planum-sphenoidale-meningiomas-in-a-similar-cohort-of-patients
#16
Evan D Bander, Harminder Singh, Colin B Ogilvie, Ryan C Cusic, David J Pisapia, Apostolos John Tsiouris, Vijay K Anand, Theodore H Schwartz
OBJECTIVE Planum sphenoidale (PS) and tuberculum sellae (TS) meningiomas cause visual symptoms due to compression of the optic chiasm. The treatment of choice is surgical removal with the goal of improving vision and achieving complete tumor removal. Two options exist to remove these tumors: the transcranial approach (TCA) and the endonasal endoscopic approach (EEA). Significant controversy exists regarding which approach provides the best results and whether there is a subset of patients for whom an EEA may be more suitable...
January 27, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28124651/aspirin-exacerbated-respiratory-disease-prevalence-diagnosis-treatment-and-considerations-for-the-future
#17
REVIEW
Joshua L Kennedy, Ashley N Stoner, Larry Borish
Aspirin-exacerbated respiratory disease (AERD) is a late onset condition characterized by the Samter triad (aspirin sensitivity [as well as sensitivity to any nonselective cyclooxygenase inhibitor], nasal polyps, asthma) and additional features, including eosinophilic chronic rhinosinusitis, hypereosinophilia, anosmia, frequent absence of atopy, and, intolerance to ingestion of red wine and other alcoholic beverages. The diagnosis is rare, and, because of this, it is also often missed by physicians. However, it is highly overexpressed in patients with severe asthma (and severe chronic rhinosinusitis with nasal polyps), which makes its recognition essential...
November 1, 2016: American Journal of Rhinology & Allergy
https://www.readbyqxmd.com/read/28122887/expanding-the-genetic-spectrum-of-anos1-mutations-in-patients-with-congenital-hypogonadotropic-hypogonadism
#18
C I Gonçalves, F Fonseca, T Borges, F Cunha, M C Lemos
STUDY QUESTION: What is the prevalence and functional consequence of ANOS1 (KAL1) mutations in a group of men with congenital hypogonadotropic hypogonadism (CHH)? SUMMARY ANSWER: Three of forty-two (7.1%) patients presented ANOS1 mutations, including a novel splice site mutation leading to exon skipping and a novel contiguous gene deletion associated with ichthyosis. WHAT IS KNOWN ALREADY: CHH is characterized by lack of pubertal development and infertility, due to deficient production, secretion or action of GnRH, and can be associated with anosmia/hyposmia (Kallmann syndrome, KS) or with a normal sense of smell (normosmic CHH)...
March 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28120040/is-increased-spinal-nociception-another-hallmark-for-parkinson-s-disease
#19
Evangelia Boura, Maria Stamelou, David Vadasz, Vincent Ries, Marcus M Unger, Georg Kägi, Wolfgang H Oertel, Jens C Möller, Veit Mylius
Augmented spinal nociception during the "off" phase has been observed early in Parkinson's disease further increasing with disease duration. To find out whether increased spinal nociception represents a premotor feature, experimental pain sensitivity was assessed in idiopathic REM-sleep behavior disorder (IRBD) patients with or without signs of a neurodegenerative disorder compared to early Parkinson's disease (ePD) patients and healthy controls (HC). Spinal nociception as measured by the nociceptive flexion reflex (NFR) and experimental pain sensitivity as measured by heat and electrical pain thresholds were determined in 14 IRBD, 15 ePD patients in the medication-defined "off" state and 27 HC in an explorative cohort study...
March 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28112015/correlation-between-olfactory-severity-ratings-based-on-olfactory-function-test-scores-and-self-reported-severity-rating-of-olfactory-loss
#20
Jungirl Seok, Ye Ji Shim, Chae-Seo Rhee, Jeong-Whun Kim
CONCLUSION: Olfactory test scores are significantly correlated with self-rated severity scales. However, the statistical rating based on olfactory tests did not strongly agree with the self-reported severity rating. This suggests that there is a discrepancy between olfactory test results and the severity described by patients themselves. OBJECTIVES: This study aimed to identify the correlation between statistical ratings based on test scores and self-rating of the severity of olfactory loss...
January 23, 2017: Acta Oto-laryngologica
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