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Erez T. Yirmiya Ehud Mekori‐Domachevsky Ronnie Weinberger Michal Taler Miri Carmel Doron Gothelf 《American journal of medical genetics. Part A》2020,182(3):461-468
22q11.2 deletion syndrome (22q11.DS) is a neurogenetic disorder caused by a microdeletion in chromosome 22. Its phenotype includes high rates of psychiatric disorders, immune system abnormalities, and cognitive impairments. We assessed the quality of sleep in 22q11.2DS and its potential link to inflammatory markers and cognitive deficits. Thirty‐three 22q11.2DS individuals and 24 healthy controls were studied. Sleep parameters were assessed by the Pittsburgh sleep quality index (PSQI) questionnaire and correlated with serum cytokine levels and cognitive functioning, measured using the Penn computerized neurocognitive battery (CNB). The 22q11.2DS individuals had significantly worse sleep quality scores than the controls, unrelated to the psychiatric or physical comorbidities common to 22q11.2DS. Interleukin 6 levels were correlated with the overall score of the PSQI questionnaire for nonpsychotic 22q11.2DS participants only. Several domains of the CNB were associated with poorer sleep quality, suggesting that cognitive impairments in 22q11.2DS may be at least partially explained by poor sleep quality. Our findings confirm sleep impairments in individuals with 22q11.2DS, which might negatively affect their cognitive functioning, and corroborate a potential role of immunological pathways in the 22q11.2DS neuro‐phenotype. 相似文献
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Dror Tal Liran Domachevsky Ronen Bar Yochai Adir Avi Shupak 《Otology & neurotology》2005,26(6):1204-1207
OBJECTIVE: To present a case series of vestibular symptoms appearing after combined sailing and diving activity, and to discuss the differential diagnosis and the workup algorithm. STUDY DESIGN: Case series. SETTING: Tertiary referral center. PATIENTS: Three patients aged 25 to 31 years suffering from unsteadiness and movement sensations after sailing and scuba diving. INTERVENTIONS: Neurotologic evaluation and recompression therapy in a hyperbaric chamber. MAIN OUTCOME MEASURES: The increasing popularity of marine sports and leisure activities has resulted in the exposure of a growing number of people to unique abnormalities not encountered under terrestrial conditions. The otolaryngologist who is involved in the care of these patients is required to diagnose and treat diving-related sinus and ear injuries such as barotrauma and decompression sickness, and also to be familiar with sailing-related disorientation syndromes such as seasickness and mal de debarquement. Treatment modalities for the various abnormalities differ significantly, and early commencement of treatment is often crucial for a successful outcome. CONCLUSION: Whenever doubt exists, recompression treatment must be instituted as soon as possible because of the potential for severe sequelae if the patient is left untreated, and because the risks involved in this therapy are minimal. 相似文献
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L Domachevsky Y Keynan D Militianu I Goldenberg Y Adir 《Undersea & hyperbaric medicine》2004,31(3):275-279
Transient osteoporosis of the hip is considered by some to be an early stage of avascular necrosis. Hyperbaric oxygen (HBO2) therapy, which may be of benefit in the treatment of avascular necrosis, might therefore be used in the treatment of transient osteoporosis of the hip. We present a case of transient osteoporosis associated with elevated levels of homocysteine in a 33-year-old white male, who was treated by HBO2. Treatment was administered at 2.5 ATA for 90 minutes once daily, five days per week. Regular follow-up examinations in the course of the HBO2 therapy revealed improvement in the patient's complaints and the findings of the physical examination. Repeated magnetic resonance imaging (MRI) performed after 40 and 90 sessions showed decreased edema and complete resolution of the edema, respectively. Evaluation 6 months after the completion of treatment revealed complete resolution of symptoms, with a normal physical examination. 相似文献
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D. Stein N. Goldberg L. Domachevsky H. Bernstine M. Nidam I. Abadi-Korek M. Guindy J. Sosna D. Groshar 《Clinical radiology》2018,73(9):832.e17-832.e22
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Liran Domachevsky Yoav Keynan Avi Shupak Yochai Adir 《European archives of oto-rhino-laryngology》2007,264(8):951-953
Currently, the treatment of sudden deafness (SD) is based mainly on complete bed rest and the administration of corticosteroids.
Hyperbaric oxygen therapy (HBOT) has previously been suggested as adjunctive treatment. We describe two cases of successful
HBOT for SD. The first patient presented with moderate mid-frequency hearing loss without accompanying symptoms, whereas the
second patient had moderate low-frequency hearing loss with persistent tinnitus and a single episode of vertigo. HBOT in addition
to conventional treatment soon after diagnosis resulted in full recovery of hearing in both patients. The pathogenesis of
SD may involve a reduction in cochlear blood flow and perilymph oxygenation, making early HBOT a reasonable treatment modality
for this condition. 相似文献
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OBJECTIVE: To examine the role of sexual intercourse as a cause of proteinuria, and establishes its duration, as a knowledge of benign causes of proteinuria is required to avoid unnecessary testing. SUBJECTS AND METHODS: Twenty-four married couples were instructed to produce a urine sample before and after sexual intercourse; their urine was tested for proteinuria by dipstick analysis. RESULTS: Samples were assayed from 22 men and 11 women. Whereas none of the 24 men originally assessed for the study had proteinuria before sexual intercourse, six of the 22 who were eventually enrolled had proteinuria after intercourse (27.3%, 95% confidence interval, 10-50%; P = 0.008). None of the women had proteinuria after sexual intercourse (95% confidence interval, 70-100%). The time to disappearance of proteinuria was <12 h. CONCLUSION: Sexual intercourse is confirmed as a benign cause of proteinuria in men. Whenever possible, it is wise to avoid sexual intercourse at least 12 h before urinary dipstick testing. 相似文献
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Ronit Gurion Hanna Bernstine Liran Domachevsky Carmela Michelson Pia Raanani Liat Vidal Tzippy Shochat Anat Gafter-Gvili 《Clinical Lymphoma, Myeloma & Leukemia》2018,18(10):687-691