Control of spatial orientation of the angular vestibuloocular reflex by the nodulus and uvula.

PubMed

Wearne, S; Raphan, T; Cohen, B

1998-05-01

Spatial orientation of the angular vestibuloocular reflex (aVOR) was studied in rhesus monkeys after complete and partial ablation of the nodulus and ventral uvula. Horizontal, vertical, and torsional components of slow phases of nystagmus were analyzed to determine the axes of eye rotation, the time constants (Tcs) of velocity storage, and its orientation vectors. The gravito-inertial acceleration vector (GIA) was tilted relative to the head during optokinetic afternystagmus (OKAN), centrifugation, and reorientation of the head during postrotatory nystagmus. When the GIA was tilted relative to the head in normal animals, horizontal Tcs decreased, vertical and/or roll time constants (Tc(vert/roll)) lengthened according to the orientation of the GIA, and vertical and/or roll eye velocity components appeared (cross-coupling). This shifted the axis of eye rotation toward alignment with the tilted GIA. Horizontal and vertical/roll Tcs varied inversely, with T(chor) being longest and T(cvert/roll) shortest when monkeys were upright, and the reverse when stimuli were around the vertical or roll axes. Vertical or roll Tcs were longest when the axes of eye rotation were aligned with the spatial vertical, respectively. After complete nodulo-uvulectomy, T(chor) became longer, and periodic alternating nystagmus (PAN) developed in darkness. T(chor) could not be shortened in any of paradigms tested. In addition, yaw-to-vertical/roll cross-coupling was lost, and the axes of eye rotation remained fixed during nystagmus, regardless of the tilt of the GIA with respect to the head. After central portions of the nodulus and uvula were ablated, leaving lateral portions of the nodulus intact, yaw-to-vertical/roll cross-coupling and control of Tc(vert/roll) was lost or greatly reduced. However, control of Tchor was maintained, and T(chor) continued to vary as a function of the tilted GIA. Despite this, the eye velocity vector remained aligned with the head during yaw axis stimulation after partial nodulo-uvulectomy, regardless of GIA orientation to the head. The data were related to a three-dimensional model of the aVOR, which simulated the experimental results. The model provides a basis for understanding how the nodulus and uvula control processing within the vestibular nuclei responsible for spatial orientation of the aVOR. We conclude that the three-dimensional dynamics of the velocity storage system are determined in the nodulus and ventral uvula. We propose that the horizontal and vertical/roll Tcs are separately controlled in the nodulus and uvula with the dynamic characteristics of vertical/roll components modulated in central portions and the horizontal components laterally, presumably in a semicircular canal-based coordinate frame.

The influence of the lateral pharyngeal wall anatomy on snoring and sleep apnoea.

PubMed

Korhan, Ibrahim; Gode, Sercan; Midilli, Rasit; Basoglu, Ozen Kacmaz

2015-02-01

To elucidate the variations of the lateral pharyngeal wall anatomy on physical examination and to assess the clinical importance of the examination of the lateral pharyngeal wall on the presence and severity of obstructive sleep apnoea syndrome. The cross-sectional study was conducted at Ege University Medical School, Izmir, Turkey, between May 2010 and April 2011. The patients were divided into four equal groups: Group 1--snoring without apnoea (age 20-40); Group 2--snoring without apnoea (age 40-60); Group 3--apnoea-hypopnoea index < 5/hr; Group 4: apnoea-hypopnoea index > 30/hr. Calibrated oropharynx pictures were taken. Distance between palatoglossal and palatopharyngeal arches, height of palatoglossal and palatopharyngeal arches, uvula width, uvula length and distance between tonsils were measured. SPSS 17 was used for statistical analysis. Of the 80 patients in the study, 44 (55%) were men. Mean distance between palatopharyngeal and palatoglossal arches were 1.55 ± 0.34 cm and 2.70 ± 0.43 cm respectively. Mean height of palatopharyngeal and palatoglossal arches were 0.60 ± 0.21 cm and 1.37 ± 0.36 cm respectively (p > 0.05). Mean uvula width and uvula length were 0.80 ± 0.12cm and 1.25 ± 0.27 cm respectively (p > 0.05). Mean distance between tonsils was 2.24 ± 0.56 cm (p > 0.05). Distance between palatopharyngeal arches was significantly different between groups 3 and 4 (p < 0.05). Palatopharyngeal arch anatomy was found to be significantly associated with obstructive sleep apnoea syndrome severity, especially in patients with normal or small tonsil size. Patients with the palatopharyngeal arches, which narrow the oropharyngeal inlet more than the tonsils, should further be investigated with polysomnography.

Obstructive sleep apnea and rhonchopathy are associated with downregulation of trefoil factor family peptide 3 (TFF3)—Implications of changes in oral mucus composition

PubMed Central

Siber-Hoogeboom, Regina; Schicht, Martin; Hoogeboom, Sebastian

2017-01-01

Study objectives Trefoil factor family (TFF) peptides belong to the family of mucin-associated peptides and are expressed in most mucosal surfaces. TFF peptides carry out functions such as proliferation and migration enhancement, anti-apoptosis, and wound healing. Moreover, TFFs are associated with mucins and interact with them as “linker peptides”, thereby influencing mucus viscosity. To test the hypothesis that in rhonchopathy and obstructive sleep apnea (OSA) changes occur in the expression of TFF3 and -2 that could contribute to changes in mucus viscosity, leading to an increase in upper airway resistance during breathing. Methods RT-PCR, Western-blot, immunohistochemistry and ELISA were performed to detect and quantify TFF3 and -2 in uvula samples. In addition, 99 saliva samples from patients with mild, moderate or severe OSA, as well as samples from rhonchopathy patients and from healthy volunteers, were analyzed by ELISA. Results TFF3 was detected in all uvula samples. Immunohistochemistry revealed a subjectively decreasing antibody reactivity of the uvula epithelia with increasing disease severity. ELISA demonstrated significantly higher TFF3 saliva protein concentrations in the healthy control group compared to cases with rhonchopathy and OSA. Predisposing factors of OSA such as BMI or age showed no correlation with TFF3. No significant changes were observed with regard to TFF2. Conclusions The results suggest the involvement of TFF3 in the pathogenesis of rhonchopathy and OSA and lead to the hypothesis that reduction of TFF3 production by the epithelium and subepithelial mucous glands of the uvula contribute to an increase in breathing resistance due to a change in mucus organization. PMID:29028798

A cross sectional study on factors associated with harmful traditional practices among children less than 5 years in Axum town, north Ethiopia, 2013

PubMed Central

2014-01-01

Background Every social grouping in the world has its own cultural practices and beliefs which guide its members on how they should live or behave. Harmful traditional practices that affect children are Female genital mutilation, Milk teeth extraction, Food taboo, Uvula cutting, keeping babies out of exposure to sun, and Feeding fresh butter to new born babies. The objective of this study was to assess factors associated with harmful traditional practices among children less than 5 years of age in Axum town, North Ethiopia. Methods Community based cross sectional study was conducted in 752 participants who were selected using multi stage sampling; Simple random sampling method was used to select ketenas from all kebelles of Axum town. After proportional allocation of sample size, systematic random sampling method was used to get the study participants. Data was collected using interviewer administered Tigrigna version questionnaire, it was entered and analyzed using SPSS version 16. Descriptive statistics was calculated and logistic regressions were used to analyze the data. Results Out of the total sample size 50.7% children were females, the mean age of children was 26.28 months and majority of mothers had no formal education. About 87.8% mothers had performed at least one traditional practice to their children; uvula cutting was practiced on 86.9% children followed by milk teeth extraction 12.5% and eye borrows incision 2.4% children. Fear of swelling, pus and rapture of the uvula was the main reason to perform uvula cutting. Conclusion The factors associated with harmful traditional practices were educational status, occupation, religion of mothers and harmful traditional practices performed on the mothers. PMID:24952584

A cross sectional study on factors associated with harmful traditional practices among children less than 5 years in Axum town, north Ethiopia, 2013.

PubMed

Gebrekirstos, Kahsu; Abebe, Mesfin; Fantahun, Atsede

2014-06-21

Every social grouping in the world has its own cultural practices and beliefs which guide its members on how they should live or behave. Harmful traditional practices that affect children are Female genital mutilation, Milk teeth extraction, Food taboo, Uvula cutting, keeping babies out of exposure to sun, and Feeding fresh butter to new born babies. The objective of this study was to assess factors associated with harmful traditional practices among children less than 5 years of age in Axum town, North Ethiopia. Community based cross sectional study was conducted in 752 participants who were selected using multi stage sampling; Simple random sampling method was used to select ketenas from all kebelles of Axum town. After proportional allocation of sample size, systematic random sampling method was used to get the study participants. Data was collected using interviewer administered Tigrigna version questionnaire, it was entered and analyzed using SPSS version 16. Descriptive statistics was calculated and logistic regressions were used to analyze the data. Out of the total sample size 50.7% children were females, the mean age of children was 26.28 months and majority of mothers had no formal education. About 87.8% mothers had performed at least one traditional practice to their children; uvula cutting was practiced on 86.9% children followed by milk teeth extraction 12.5% and eye borrows incision 2.4% children. Fear of swelling, pus and rapture of the uvula was the main reason to perform uvula cutting. The factors associated with harmful traditional practices were educational status, occupation, religion of mothers and harmful traditional practices performed on the mothers.

Uvulectomy in Nigeria.

PubMed

Ijaduola, G T

1981-11-01

The removal of the uvula for minor pharyngeal lesions is unusual in Western otorhinolaryngological practice. However, uvulectomy is a common procedure for "throat problems' in Nigeria and some other African countries by traditional surgeons. This is because it is believed that the elongated uvula is the root cause of all throat problems. These traditional surgeons are usually barbers by profession and only practice surgery on a part-time basis. Most of their patients do well but some have to be rushed to the hospital with severe post-operative bleeding. Attention of Europeans and other foreign otolaryngologists who may find themselves practising in any part of Africa is hereby drawn to the procedure.

Role of cerebellar nodulus and uvula on the vestibular quick phase spatial constancy.

PubMed

Pettorossi, V E; Grassi, S; Errico, P; Barmack, N H

2001-01-01

We investigated the orientation of quick phases (QPs) of vestibularly-induced eye movements in rabbits in response to "off-vertical" sinusoidal vestibular stimulation. We also examined the possible role of the cerebellar nodulus and ventral uvula in controlling QP spatial orientation and modification. During "off-vertical" vestibular stimulation QPs remained aligned with the earth's horizontal plane, while the slow phases (SPs) were aligned with the plane of vestibular stimulation. This suggests that QPs are coded in gravito-inertial coordinates and SPs in head coordinates. When rabbits were oscillated in the light (20 degrees peak-to-peak; 0.2 Hz) about an "off-vertical" axis for 2 h, the QPs changed their trajectory, abandoning the earth's horizontal plane to approach the plane of the stimulus. By contrast, in the absence of conjunctive optokinetic stimulation, QPs remained fixed in the earth's horizontal plane even after 2 h of "off-vertical" stimulation. The conjunctive combination of optokinetic and vestibular stimulation caused QPs to change their plane of rotation. After lesion of the nodulus-uvula the ability of rabbits to reorient QPs during conjoint vestibular-optokinetic stimulation was maintained. We conclude that the space orientation and adaptation of QPs do not require cerebellar control.

Diversity of vestibular nuclei neurons targeted by cerebellar nodulus inhibition

PubMed Central

Meng, Hui; Blázquez, Pablo M; Dickman, J David; Angelaki, Dora E

2014-01-01

Abstract A functional role of the cerebellar nodulus and ventral uvula (lobules X and IXc,d of the vermis) for vestibular processing has been strongly suggested by direct reciprocal connections with the vestibular nuclei, as well as direct vestibular afferent inputs as mossy fibres. Here we have explored the types of neurons in the macaque vestibular nuclei targeted by nodulus/ventral uvula inhibition using orthodromic identification from the caudal vermis. We found that all nodulus-target neurons are tuned to vestibular stimuli, and most are insensitive to eye movements. Such non-eye-movement neurons are thought to project to vestibulo-spinal and/or thalamo-cortical pathways. Less than 20% of nodulus-target neurons were sensitive to eye movements, suggesting that the caudal vermis can also directly influence vestibulo-ocular pathways. In general, response properties of nodulus-target neurons were diverse, spanning the whole continuum previously described in the vestibular nuclei. Most nodulus-target cells responded to both rotation and translation stimuli and only a few were selectively tuned to translation motion only. Other neurons were sensitive to net linear acceleration, similar to otolith afferents. These results demonstrate that, unlike the flocculus and ventral paraflocculus which target a particular cell group, nodulus/ventral uvula inhibition targets a large diversity of cell types in the vestibular nuclei, consistent with a broad functional significance contributing to vestibulo-ocular, vestibulo-thalamic and vestibulo-spinal pathways. PMID:24127616

The Traditionally Amputated Uvula amongst Nigerians: Still an Ongoing Practice

PubMed Central

Adoga, Adeyi A.; Nimkur, Tonga L.

2011-01-01

Traditional healers in Nigeria continue to perform uvulectomy for all throat problems despite the severe complications they present to physicians. It is a hospital-based prospective study done at the outpatient unit of the Department of Otolaryngology, Jos University Teaching Hospital, Jos, Nigeria to determine the prevalence of traditional uvulectomy, highlighting the dangers it portends with suggested ways of providing improved health outcomes for our people. We saw 517 new cases of which 165 (32%) patients aged 2 years to 53 years had their uvulae amputated consisting of 108 (65.5%) males and 57 (34.5%) females giving a male to female ratio of 2 : 1. One hundred and forty two (86.1%) patients had uvulectomy at childhood and 23 (13.9%) in adulthood. The commonest indication was throat pain (n = 36, 21.8%). The commonest complication was hemorrhage (n = 29, 17.6%). Forty six (27.9%) patients required hospital admission. PMID:23724258

The Traditionally Amputated Uvula amongst Nigerians: Still an Ongoing Practice.

PubMed

Adoga, Adeyi A; Nimkur, Tonga L

2011-01-01

Traditional healers in Nigeria continue to perform uvulectomy for all throat problems despite the severe complications they present to physicians. It is a hospital-based prospective study done at the outpatient unit of the Department of Otolaryngology, Jos University Teaching Hospital, Jos, Nigeria to determine the prevalence of traditional uvulectomy, highlighting the dangers it portends with suggested ways of providing improved health outcomes for our people. We saw 517 new cases of which 165 (32%) patients aged 2 years to 53 years had their uvulae amputated consisting of 108 (65.5%) males and 57 (34.5%) females giving a male to female ratio of 2 : 1. One hundred and forty two (86.1%) patients had uvulectomy at childhood and 23 (13.9%) in adulthood. The commonest indication was throat pain (n = 36, 21.8%). The commonest complication was hemorrhage (n = 29, 17.6%). Forty six (27.9%) patients required hospital admission.

Traditional uvulectomy in Niger: a public health problem?

PubMed

Prual, A; Gamatie, Y; Djakounda, M; Huguet, D

1994-10-01

Although traditional uvulectomy, a procedure which consists of cutting away a part of the uvula, has been reported in several sub-Saharan African countries, in Maghreb and in Israel, epidemiological and anthropological data on this practice are rare. Severe complications may require hospitalization. The goal of this study was to assess the prevalence of this traditional procedure in Niamey, capital of Niger, the incidence of its severe complications and the beliefs and practices related to it. By the age of 5, 19.6% of the children in our survey had undergone uvulectomy. Severe complications of uvulectomy represented 7.8/1000 cases of hospitalization for children under 15 years of age. Complications were infections (including tetanus), hemorrhage and passage of the cut piece of uvula further down the respiratory tract. The children who had undergone uvulectomy belonged significantly more often to the Hausa ethnic group (66.2%) than to the majority Zarma ethnic group (18.3%) or to the other ethnic groups (15.5%). This can be explained by the fact that, in some Hausa subgroups, uvulectomy is systematically performed on the 7th day after birth, during the naming ceremony, to prevent death due to a 'swelling of the uvula'. In the other Hausa sub-groups and in the other ethnic groups, uvulectomy is solely a curative practice, both for children and adults, for vomiting, diarrhea, anorexia, the child's rejection of the breast, growth retardation and fever. Uvulectomy is performed in Niger by the barbers, whose functions are also to perform specialized surgery. These traditional surgeons claim there is no risk to this practice.(ABSTRACT TRUNCATED AT 250 WORDS)

Adaptive changes in the angular VOR: duration of gain changes and lack of effect of nodulo-uvulectomy.

PubMed

Yakushin, Sergei B; Bukharina, Svetlana E; Raphan, Theodore; Buttner-Ennever, Jean; Cohen, Bernard

2003-10-01

Alterations in the gain of the vertical angular vestibulo-ocular reflex (VOR) are dependent on the head position in which the gain changes were produced. We determined how long gravity-dependent gain changes last in monkeys after four hours of adaptation, and whether the adaptation is mediated through the nodulus and uvula of the vestibulocerebellum. Vertical VOR gains were adaptively modified by rotation about an interaural axis, in phase or out of phase with the visual surround. Vertical VOR gains were modified with the animals in one of three orientations: upright, left-side down, or right-side down. Monkeys were tested in darkness for up to four days after adaptation using sinusoidal rotation about an interaural axis that was incrementally tilted in 10 degrees steps from vertical to side down positions. Animals were unrestrained in their cages in normal light conditions between tests. Gravity-dependent gain changes lasted for a day or less after adaptation while upright, but persisted for two days or more after on-side adaptation. These data show that gravity-dependent gain changes can last for prolonged periods after only four hours of adaptation in monkeys, as in humans. They also demonstrate that natural head movements made while upright do not provide an adequate stimulus for rapid recovery of vertical VOR gains that were induced on side. In two animals, the nodulus and uvula were surgically ablated. Vertical gravity-dependent gain changes were not significantly different before and after surgery, indicating that the nodulus and uvula do not have a critical role in producing them.

A crypto-lymphatic unit at the uvula of the monkey Macaca fascicularis. A light- and electron-microscopic study.

PubMed

Nair, P N

1983-01-01

A crypto-lymphatic unit was observed at the left lateral aspect of the uvula of a mature female monkey, Macaca fascicularis. A light- and transmission electron-microscopic investigation revealed that the lumen of the crypt was filled with bacteria, desquamated epithelial cells, lymphocytes and neutrophils. The non-keratinized stratified squamous epithelium of the crypt was fragmented and showed heavy mononuclear cell infiltration and surface discontinuities, exposing lymphoid cells to foreign material. The lymphatic parenchyma consisted of organized lymphatic tissue including germinal centres. The resident cell population included lymphocytes of varying size, blastforming B- and T-lymphocytes and two types of reticular cells resembling the fibroblastic reticulum cell and the follicular dendritic cell, respectively. Occasionally granulocytes were encountered. At its base and laterally the crypto-lymphatic unit was ensheathed by a thin connective tissue capsule. Three other monkeys of the same species failed to reveal similar structures at the same site.

'A good shepherd, but with obstructive sleep apnoea syndrome': traditional uvulectomy case series and literature review.

PubMed

Ravesloot, M J L; de Vries, N

2011-09-01

In the West, removal of the uvula is predominantly undertaken as part of palatal surgery, in cases of obstructive sleep apnoea. In the developing world, such as the Middle East and Africa, uvulectomy is a more common practice. The uvula is removed for curative or preventive purposes, or as part of ritual practice. Due to immigration from developing to developed world countries, and to Western doctors working abroad, such doctors are increasingly being confronted with unfamiliar traditional healing practices, within a medical context. The Medline and Embase online databases were systematically searched for literature on traditional uvulectomy. We present a review of this literature. We also present the first report, to our best knowledge, of obstructive sleep apnoea as a late complication of traditional uvulectomy. Traditional uvulectomy may be complicated by post-operative haemorrhage and local infections, among many other problems. We report cases of obstructive sleep apnoea and snoring caused by palatal stenosis resulting from traditional uvulectomy during childhood.

Chronic cough and tonsillar hypertrophy: a case series.

PubMed

Gurgel, Richard K; Brookes, James T; Weinberger, Miles M; Smith, Richard J

2008-11-01

Two patients with intractable chronic cough were found to have tonsillar tissue impinging on their epiglottis. In both case, tonsillectomy was curative. The observations in these patients are consistent with a previous report indicating chronic cough from the uvula in contact with the epiglottis with cough cessation following uvulectomy. (c) 2008 Wiley-Liss, Inc.

[Loeys-Dietz syndrome (TGFβR2 mutation) in a 4-year-old child with thoracic aortic aneurysm].

PubMed

De Potter, M-J; Edouard, T; Amadieu, R; Plaisancié, J; Julia, S; Hadeed, K; Hascoët, S; Acar, P; Dulac, Y

2016-05-01

Loeys-Dietz syndrome is a rare form of connective tissue disorder, whose clinical features can resemble those of Marfan syndrome, but with a more unpolished appearance. Recently brought out, this pathology remains little known; however, its consequences may be dramatic. We report on the case of a 4-year-old girl followed for a congenital hip dislocation, in which a systematic exam found increased cutaneous elasticity and a bifid uvula, suggesting a connective tissue disorder. Symptoms were unpolished, as the child's height was normal, without any positive cardiac, rheumatological, or ophthalmological family history. Cardiovascular tests found a thoracic aortic aneurysm at the Valsalva sinus (26mm, Z-score=+4.24). A genetic investigation found a TGFβR2 gene mutation, leading to the diagnosis of Loeys-Dietz syndrome type 2. Skeletal damage associated with bifid uvula and/or hypertelorism and an aneurysm of the ascending aorta should guide the genetic investigation to the search for TGF-β vasculopathy such as Loeys-Dietz syndrome. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

A Girl with Pervasive Developmental Disorder and Complex Chromosome Rearrangement Involving 8p and 10p

ERIC Educational Resources Information Center

Zwaigenbaum, L; Sonnenberg, L. K.; Heshka, T.; Eastwood, S.; Xu, J.

2005-01-01

We report a 4-year-old girl with a "de novo", apparently balanced complex chromosome rearrangement. She initially presented for assessment of velopharyngeal insufficiency due to hypernasal speech. She has distinctive facial features (long face, broad nasal bridge, and protuberant ears with simplified helices), bifid uvula, strabismus,…

Unusual cause of chronic cough in a four-year-old cured by uvulectomy.

PubMed

Najada, Abdelhamid; Weinberger, Miles

2002-08-01

A 4-year-old boy had a history of persistent barking cough unresponsive to medical treatment since infancy. He described a feeling of something in his throat. When investigated by flexible fiberoptic bronchoscopy, the only abnormality was the uvula resting in contact with the epiglottis. The cough was no longer present after uvulectomy. Copyright 2002 Wiley-Liss, Inc.

Anatomical segregation of different adaptative processes within the vestibulocerebellum of the cat.

PubMed

Torte, M P; Courjon, J H; Flandrin, J M; Magnin, M; Magenes, G

1994-01-01

Bilateral surgical lesions of the flocculus or the nodulo-uvular lobes were performed in the cat. Effects of these lesions on optokinetic and optokinetic afternystagmus OKAN), vestibulo-ocular reflex (VOR), visual suppression, and adaptation and habituation of VOR were studied using an identical experimental protocol. After flocculectomy, all these functions were impaired, except for habituation. Long-term postoperative recordings only revealed a recovery of the suppression of VOR, suggesting a limited contribution of the flocculus to this function. After nodulo-uvulectomy, only habituation and OKAN were modified. When the lesion was restricted to part of the uvula, OKAN duration was decreased. For other lesions involving the uvula together with the nodulus and/or the lobules VII-VIII,OKAN duration was increased. Habituation was lost after destruction of the nodulo-uvular lobes. When this latter structure was damaged, the retention component of habituation was selectively impaired, sparing the acquisition. Additional lesions outside the vestibulocerebellum appeared necessary to suppress the two components. Comparison of results obtained after flocculectomy and after nodulouvulectomy confirms and extends to non-primate species the concept of a "differential control" of adaptation and habituation by distinct vestibulocerebellar structures.

Vestibular-induced vomiting after vestibulocerebellar lesions

NASA Technical Reports Server (NTRS)

Miller, A. D.; Wilson, V. J.

1983-01-01

Vestibular stimulation, by sinusoidal electrical polarization of the labyrinths of decerebrate cats which can produce vomiting and related activity which resembles motion sickness was examined. The symptoms include panting, salivation, swallowing, and retching as well as vomiting. These symptoms can be produced in cats with lesions of the posterior cerebellar vermis. It is suggested that a transcerebellar pathway from the vestibular apparatus through the nodulus and uvula to the vomiting center is not essential for vestibular induced vomiting and the occurrence of many symptoms of motion.

Vestibular-induced vomiting after vestibulocerebellar lesions

NASA Technical Reports Server (NTRS)

Miller, A. D.; Wilson, V. J.

1982-01-01

Vestibular stimulation, by sinusoidal electrical polarization of the labyrinths of decerebrate cats which can produce vomiting and related activity which resembles motion sickness was examined. The symptoms include panting, salivation, swallowing, and retching as well as vomiting. These symptoms can be produced in cats with lesions of the posterior cerebellar vermis. It is suggested that a transcerebellar pathway from the vestibular apparatus through the nodulus and uvula to the vomiting center is not essential for vestibular induced vomiting and the occurrence of many symptoms of motion.

Apert's syndrome: ophthalmic importance and clinical findings.

PubMed

Caça, Ihsan; Caça, Fatma Nur; Sakalar, Yildirim Bayezit; Erdem, Seyfettin; Alakus, Fuat; Ciftci, Suleyman; Dogan, Eyüp

2009-01-01

Apert's syndrome is a rare form of craniosynostosis that exhibits with many ocular manifestations. We present two cases of Apert's syndrome. Our first case is a 10-year-old girl admitted with exotropia, V pattern and proptosis on examination. Investigations revealed coronal craniosynostosis, cleft palate, vaginal atresia and syndactyly of the hands and feet. The second case is a 5-year-old boy presented with hypertelorism, exotropia, dissociated vertical deviation and proptosis. Investigations revealed coronal craniosynostosis, bifid uvula and syndactyly of the hands and feet.

Evaluation of the Predictive Value of Intraoperative Changes in Motor-Evoked Potentials of Caudal Cranial Nerves for the Postoperative Functional Outcome.

PubMed

Kullmann, Marcel; Tatagiba, Marcos; Liebsch, Marina; Feigl, Guenther C

2016-11-01

The predictive value of changes in intraoperatively acquired motor-evoked potentials (MEPs) of the lower cranial nerves (LCN) IX-X (glossopharyngeal-vagus nerve) and CN XII (hypoglossal nerve) on operative outcomes was investigated. MEPs of CN IX-X and CN XII were recorded intraoperatively in 63 patients undergoing surgery of the posterior cranial fossa. We correlated the changes of the MEPs with postoperative nerve function. For CN IX-X, we found a correlation between the amplitude of the MEP ratio and uvula deviation (P = 0.028) and the amplitude duration of the MEP and gag reflex function (P = 0.027). Patients with an MEP ratio of the glossopharyngeal-vagus amplitude ≤1.47 μV had a 3.4 times increased risk of developing a uvula deviation. Patients with a final MEP duration of the CN IX-X ≤11.6 milliseconds had a 3.6 times increased risk for their gag reflex to become extinct. Our study greatly contributes to the current knowledge of intraoperative MEPs as a predictor for postoperative cranial nerve function. We were able to extent previous findings on MEP values of the facial nerve on postoperative nerve function to 3 additional cranial nerves. Finding reliable predictors for postoperative nerve function is of great importance to the overall quality of life for a patient undergoing surgery of the posterior cranial fossa. Copyright © 2016 Elsevier Inc. All rights reserved.

Atypical findings in three patients with Pai syndrome and literature review.

PubMed

Lederer, Damien; Wilson, Brian; Lefesvre, Pierre; Poorten, Vincent Vander; Kirkham, Nigel; Mitra, Dipayan; Verellen-Dumoulin, Christine; Devriendt, Koenraad

2012-11-01

Pai syndrome is a rare disorder characterized by congenital nasal or facial polyp, midline cleft lip, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report on three patients with Pai syndrome and atypical findings: temporal triangular alopecia, posterior lenticonus, bilateral palatal pits, bifid uvula, hypospadias, sacral dimple, true tracheal bronchus, and epilepsy. Thirty-three cases of Pai syndrome have been described so far. We present a review of the previously reported cases and suggest modified diagnostic criteria for Pai syndrome. Copyright © 2012 Wiley Periodicals, Inc.

How many breaks do we need to CATCH on 22q11?

DOE Office of Scientific and Technical Information (OSTI.GOV)

Dallapiccola, B.; Pizzuti, A.; Novelli, G.

1996-07-01

The major clinical manifestations of DiGeorge syndrome (DGS; MIM 188400), which reflect developmental abnormalities of the 3d and 4th pharyngeal pouch derivatives, include thymus- and parathyroid-gland aplasia or hypoplasia and conotruncal cardiac malformations. The additional dysmorphic facial features, such as hypertelorism, cleft lip and palate, bifid uvula, and small/low-set ears, which are also common, presumably reflect the same defect. The DGS phenotype has been associated with chromosome abnormalities and, sometimes, is the effect of teratogenic agents such as retinoic acid and alcohol. 53 refs., 1 fig.

Half-and-Half Palatoplasty.

PubMed

Han, Hyun Ho; Kang, In Sook; Rhie, Jong Won

2014-08-01

A 14-month-old child was diagnosed with a Veau Class II cleft palate. Von Langenbeck palatoplasty was performed for the right palate, and V-Y pushback palatoplasty was performed for the left palate. The child did not have a special problem during the surgery, and the authors were able to elongate the cleft by 10 mm. Contrary to preoperative concerns regarding the hybrid use of palatoplasties, the uvula and midline incisions remained balanced in the middle. The authors named this combination method "half-and-half palatoplasty" and plan to conduct a long-term follow up study as a potential solution that minimizes the complications of palatoplasty.

Four novel prosthodontic methods for managing upper airway resistance syndrome: an investigative analysis revealing the efficacy of the new nasopharyngeal aperture guard appliance.

PubMed

Venkat, R; Gopichander, N; Vasantakumar, M

2010-01-01

Obstructive sleep apnea is the most frequent cause for insomnia in the populace. Snoring is mulled over as the potential factor that can lead the sequel to obstructive sleep apnea. Although the etiology and deterrence measures for snoring are yet to be undoubtedly clarified by our scientific sorority, various means of surgical corrections have been affirmed and put into practice, with a substantial degree of success. Despite this, it is implicit that a noninvasive method of managing obstructive sleep apnea is more relevant for overcoming this condition. This manuscript intends to establish how snoring can be controlled prosthodontically by different modalities of scientifically defensible approaches. The most effective among the modalities was affirmed as the investigative analyses of the treatment outcomes with each modality. NOVEL METHODS: Four new methods of managing obstructive sleep apnea--uvula lift appliance, uvula and velopharynx lift appliance, nasopharyngeal aperture guard, and soft palate lift appliance were demonstrated through this article. The four new modalities stated and one conventional modality of mandibular advancement appliance for managing obstructive sleep apnea, a total of five types of appliance therapies, were described with case reports for each. Five individuals undergoing the appliance therapy were chosen for each modality. The treatment outcome with each modality was examined by analysis of clinical predictors and also by means of standard investigation, with nasal and oral endoscopic analyses. Among the five types of appliance therapies, the nasopharyngeal aperture guard provided the best treatment outcome in terms of clinical predictors and endoscopic analyses. Nasopharyngeal aperture guard, the novel method stated in this article is the better modality for managing obstructive sleep apnea, among the five different appliance therapies.

Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency.

PubMed

Loewenthal, Neta; Haim, Alon; Parvari, Ruti; Hershkovitz, Eli

2015-12-01

Phosphoglucomutase 1 (PGM1, EC 5.4.2.2) plays a critical role in glucose homeostasis and is also essential for protein N-glycosylation. The main clinical manifestations of PGM1 deficiency (MIM 614921) reported in 19 patients from different ethnic backgrounds include the following: cleft uvula/palate, Pierre Robin sequence, muscle weakness, dilated cardiomyopathy, growth retardation, elevated serum transaminases, hypoglycemia, and various endocrine abnormalities. We report the variable clinical picture of seven patients with PGM1 deficiency from a consanguineous family. Medical records of the patients were reviewed for clinical details and endocrine evaluation. Whole exome sequencing (WES) was performed. Seven patients aged 2-29 years were included, one patient died at 13 years old when getting off the school bus. All patients have an abnormal palatine structure (cleft palate, bifid uvula) and elevated serum transaminases, 4/7 have short stature (<-2 SDS) and one was diagnosed with growth hormone deficiency. Recurrent episodes of ketotic hypoglycemia were present in 6/7 patients. In two patients, hypoglycemic episodes have spontaneously resolved later on. Four out of seven patients have deteriorating adrenal function with abnormally low cortisol and ACTH levels during hypoglycemia and subnormal response of cortisol to low dose ACTH test . Serum electrolytes were within normal range. Hydrocortisone replacement therapy improved, but not entirely eliminated hypoglycemic episodes. WES revealed a previously described homozygous mutation c.112A>T, p.Asn38Tyr in the PGM1 gene. The clinical picture of PGM1 deficiency is variable among patients with the same mutation and genetic background. ACTH deficiency should be considered in any PGM1 deficient patient with hypoglycemia. © 2015 Wiley Periodicals, Inc.

Half-and-Half Palatoplasty

PubMed Central

Han, Hyun Ho; Kang, In Sook

2014-01-01

A 14-month-old child was diagnosed with a Veau Class II cleft palate. Von Langenbeck palatoplasty was performed for the right palate, and V-Y pushback palatoplasty was performed for the left palate. The child did not have a special problem during the surgery, and the authors were able to elongate the cleft by 10 mm. Contrary to preoperative concerns regarding the hybrid use of palatoplasties, the uvula and midline incisions remained balanced in the middle. The authors named this combination method "half-and-half palatoplasty" and plan to conduct a long-term follow up study as a potential solution that minimizes the complications of palatoplasty. PMID:28913201

Hair toe tourniquets: a review of two case studies.

PubMed

Booth, Julia; Morse, Tim

2018-05-22

Digit hair tourniquets are relatively uncommon. There are reports in the literature of hair tourniquets involving other appendages, such as the penis and uvula, however the phenomenon is not widely recognised and is often overlooked by healthcare professionals. This article discusses two case studies in which hair was responsible for creating a tourniquet around a digit. The article explores possible causes and management options for patients, with reference to the case studies. Midwives and health visitors are central to minimising the risk of injury to children as they can educate expectant mothers about this potential problem. © 2018 RCN Publishing Company Ltd. All rights reserved. Not to be copied, transmitted or recorded in any way, in whole or part, without prior permission of the publishers.

The occult submucous cleft palate.

PubMed

Kaplan, E N

1975-10-01

We have studied 41 patients with classic submucous cleft and 32 cases with occult submucous cleft. Both groups have the same anatomic abnormality that leads to velar dysfunction-the insertion of the palate muscles onto the hard palate rather than onto the midline soft palate raphe. However, the occult submucous cleft palate does not have the classic triad of bifid uvula, hard palate bony notch, and furrow in the midline of the soft palate. Characteristic facial features, cephalmetric x-rays, and cine voice studies can help make a presumptive diagnosis of occult submucous cleft palate. Surgical management includes a diagnostic palate exploration to identify muscle configuration followed by levator muscle sling reconstruction, palate pushback, and pharyngeal flap. Excellent speech results are obtained except with patients having palate paresis.

Abnormal Eye Movements in Creutzfeldt-Jakob Disease

NASA Technical Reports Server (NTRS)

Grant, Michael P.; Cohen, Mark; Petersen, Robert B.; Halmagyi, G. Michael; McDougall, Alan; Tusa, Ronald J.; Leigh, R. John

1993-01-01

We report 3 patients with autopsy-proven Creutzfeldt-Jakob disease who, early in their course, developed abnormal eye movements that included periodic alternating nystagmus and slow vertical saccades. These findings suggested involvement of the cerebellar nodulus and uvula, and the brainstem reticular formation, respectively. Cerebellar ataxia was also an early manifestation and, in one patient, a frontal lobe brain biopsy was normal at a time when ocular motor and cerebellar signs were conspicuous. As the disease progressed, all saccades and quick phases of nystagmus were lost, but periodic alternating gaze deviation persisted. At autopsy, 2 of the 3 patients had pronounced involvement of the cerebellum, especially of the midline structures. Creutzfeldt-Jakob disease should be considered in patients with subacute progressive neurological disease when cognitive changes are overshadowed by ocular motor findings or ataxia.

[Particular aspects of rhinitis and rhino-conjunctivitis].

PubMed

Favennec, F; Sonneville, A; De Luca, H; Castros, A

2003-03-01

The authors report their experience of 28 years of practice in the opthalmology service of the CHRU at Rennes. The describe certain particular aspects of rhinitis and rhino-conjuctivitis where the danger resides in an extensive risk to the uvula or the bronchi. They insist on the importance of understanding polyvalents in internal medicine (rôle of the seat of gingivodentary "ideas", value of research into indicative markers of protection A2 and B40 in the HLA system. In the region of nutrition, they emphasize the importance of the rôle of zinc, of vitamin C and of magnesium. They base their hopes on study of the local markers of sensitivity, in order to assess the elements of preventative action for an eventual ocular and bronchial extension.

Correlation of Longitudinal Gray Matter Volume Changes and Motor Recovery in Patients After Pontine Infarction.

PubMed

Wang, Peipei; Jia, Xiuqin; Zhang, Miao; Cao, Yanxiang; Zhao, Zhilian; Shan, Yi; Ma, Qingfeng; Qian, Tianyi; Wang, Jingjuan; Lu, Jie; Li, Kuncheng

2018-01-01

The mechanisms of motor functional recovery after pontine infarction (PI) remain unclear. Here, we assessed longitudinal changes in gray matter volume (GMV) and examined the relationship between GMV and clinical outcome. Fifteen patients with unilateral PI underwent magnetic resonance imaging and neurological exams five times during a period of 6 months. Another 15 healthy participants were enrolled as the normal control (NC) group and were examined with the same protocol. The MR exam included routine protocol and a 3D T1-weighted magnetization-prepared rapid acquisition gradient echo scan. Changes in GMV were assessed using voxel-based morphometry. Furthermore, the correlations between GMV changes in regions of interest and clinical scores were assessed. Compared with NCs, the decreased GMVs in the contralateral uvula of cerebellum and the ipsilateral tuber of cerebellum were detected at third month after stroke onset. At the sixth month after stroke onset, the decreased GMVs were detected in the contralateral culmen of cerebellum, putamen, as well as in the ipsilateral tuber/tonsil of cerebellum. Compared with NC, the PI group exhibited significant increases in GMV at each follow-up time point relative to stroke onset. Specifically, the significant GMV increase was found in the ipsilateral middle frontal gyrus and ventral anterior nucleus of thalamus at second week after stroke onset. At first month after stroke onset, the increased GMVs in the ipsilateral middle temporal gyrus were detected. The significant GMV increase in the ipsilateral mediodorsal thalamus was noted at third month after stroke onset. At the end of sixth month after stroke onset, the GMV increase was found in the ipsilateral mediodorsal thalamus, superior frontal gyrus, and the contralateral precuneus. Across five times during a period of 6-month, a negative correlation was observed between mean GMV in the contralateral uvula, culmen, putamen, and ipsilateral tuber/tonsil and mean Fugl-Meyer (FM) score. However, mean GMV in the ipsilateral mediodorsal thalamus was positively correlated with mean FM score. Our findings suggest that structural reorganization of the ipsilateral mediodorsal thalamus might contribute to motor functional recovery after PI.

The assessment of midface distraction osteogenesis in treatment of upper airway obstruction.

PubMed

Xu, Haisong; Yu, Zheyan; Mu, Xiongzheng

2009-09-01

Le Fort III osteotomy with midface distraction osteogenesis (Le Fort III DO) can improve the midface form and change the upper airway space. Some surgeons believe that midface advancement can improve respiratory outcome dramatically, but others think it does not predictably result in the cure of obstructive sleep apnea (OSA). In this study, we evaluated the structural and functional changes of the upper airway before and after Le Fort III DO; we hope these studies can improve future protocols for midface advancement. A retrospective study of 11 patients with severe midface retrusion who underwent Le Fort III osteotomy with midface external distractor system was undertaken. These patients had an average of 5.4 months of follow-up. Three-dimensional volumetric assessment of the upper airway was used before and after surgery. We also evaluated the two-dimensional cross-sectional area of the upper airway to show the changes in different airway levels. Two patients with preoperative evidence of OSA were evaluated both preoperatively and postoperatively by overnight polysomnography. The midface was distracted for an average of 20.27 +/- 8.04 mm. Comparison between preoperative and postoperative three-dimensional computed tomographic data showed an average 64.30% increase in upper airway volume, an improvement of 9.13 +/- 6.94 mL (P < 0.05). The two-dimensional measurement also showed that the cross-sectional area at the posterior nasal spine and uvula airway level increased (P < 0.05), but the cross-sectional area at the epiglottis level and the separation of airway and esophagus level did not increase (P > 0.05). Two patients with preoperative evidence of OSA had both preoperative and postoperative sleeping studies that showed improvement. Le Fort III DO can significantly improve the upper airway space in the cases of syndromic craniosynostosis. The upper airway space above the uvula level was significantly enlarged after Le Fort III DO according to two-dimensional and three-dimensional image measurements, and according to the polysomnography, the OSA was alleviated. Le Fort III DO is a promising procedure in the treatment of severe midface retrusion with OSA in young patients.

Oropharyngeal examination to predict sleep apnea severity.

PubMed

Barceló, Xavier; Mirapeix, Rosa M; Bugés, Jordi; Cobos, Albert; Domingo, Christian

2011-10-01

To evaluate the usefulness of the examination of the upper airway, paying special attention to the Friedman tongue position (FTP), to confirm obstructive sleep apnea syndrome (OSAS) and its severity. Prospective, single-center, cross-sectional study. Sleep disorders unit of a community hospital. A total of 301 consecutive patients admitted to the sleep disorders unit due to suspicion of OSAS. Assessments included body mass index calculated as weight in kilograms divided by height in meters squared (BMI); neck perimeter measurement; oropharyngeal examination; fiberendoscopy; rhinomanometry; and a sleep study. Apnea-hypopnoea index (AHI), FTP, the uvula size, and certain complementary examinations (sex, age, BMI, cervical perimeter, nasal flow) whose importance has not been clearly established, and to explore their potential value as predictors of the AHI. Findings included the following: the mean (SD) age of the patients was 51 (12) years; 71.1% were male; the mean (SD) BMI was 29.8 (4.6); and the mean (SD) cervical perimeter, 40.5 (3.7) cm. In 94.0% of the patients the AHI value was at least 5.0/hour. Patients with FTP scores of 2 and 3 accounted for 74.1% of the whole cohort: 14.3% had an FTP score of 1, and only 11.6% had a score of 4. Of the 6.0% of cases with a normal AHI, 16 patients were classified as having FTP scores of 1, and 2 as having a score of 2. Tonsil size score (P = .005), uvula score (P = .003), BMI (P < .001), cervical perimeter (P < .001), nasal flow at 150 Pa (P = .02), and age (P = .007) were related to OSAS severity. Curiously, AHI in patients who had undergone tonsillectomy was higher than in the TS1 group (tonsils inside the tonsillar fossa) and quite similar to the TS 2 group (tonsils that extend beyond the tonsillar pillars). In the multiple regression model, only the FTP score showed a relevant relationship to OSAS severity. First, since the FTP score is almost the only parameter related to OSAS severity, a simple oropharyngeal examination can provide key information on this issue. Second, tonsillectomy does not seem to protect against development of OSAS.

Cerebellum and Ocular Motor Control

PubMed Central

Kheradmand, Amir; Zee, David S.

2011-01-01

An intact cerebellum is a prerequisite for optimal ocular motor performance. The cerebellum fine-tunes each of the subtypes of eye movements so they work together to bring and maintain images of objects of interest on the fovea. Here we review the major aspects of the contribution of the cerebellum to ocular motor control. The approach will be based on structural–functional correlation, combining the effects of lesions and the results from physiologic studies, with the emphasis on the cerebellar regions known to be most closely related to ocular motor function: (1) the flocculus/paraflocculus for high-frequency (brief) vestibular responses, sustained pursuit eye movements, and gaze holding, (2) the nodulus/ventral uvula for low-frequency (sustained) vestibular responses, and (3) the dorsal oculomotor vermis and its target in the posterior portion of the fastigial nucleus (the fastigial oculomotor region) for saccades and pursuit initiation. PMID:21909334

The value of oral appliances in the treatment of obstructive sleep apnoea

PubMed Central

Rose, Edmund Clemens

2006-01-01

Oral appliances have long been used to treat snoring and mild to moderate obstructive sleep apnoea. This kind of treatment is considered an alternative, non-invasive treatment option. Mandibular protrusive appliances enlarge and stabilise the oro- and hypo-pharyngeal airway space by advancing the mandible, and stretching the attached soft tissue, in particular the tongue, soft palate, uvula, and the pharyngeal tissues. This article summarises the indications, contraindications, and possible side-effects of using oral appliances. Therapeutic efficacy is influenced by multiple parameters that are clinically difficult to control. One major parameter is the patient`s stomatognathic situation of the patient. Thus oral appliances are restricted to patients whose dental retention is adequate for permanent treatment and who do not suffer from temporomandibular joint dysfunction. Regular follow-up sleep studies and dental evaluations are necessary to ensure adequate permanent treatment. PMID:22073072

Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations.

PubMed

Tyshchenko, Nataliya A; Riegel, Mariluce; Evseenkova, Elena G; Zerova, Tatjana E; Gorovenko, Nataliya G; Schinzel, Albert

2007-01-01

We report a patient with multiple dysmorphic signs and congenital malformations, representing a combination of clinical features of duplication (12p) and deletion (22)(q11.2) syndromes. The girl had overgrowth at birth, showed abnormal cranio-facial findings, cleft uvula, a complex conotruncal heart defect, a polycystic right kidney, and an umbilical hernia. She died at the age of 6 months of cardio-respiratory failure. Cytogenetic examination demonstrated a derivative chromosome 12 replacing one of the two chromosomes 22. The paternal karyotype was normal 46,XY while the mother's karyotype was 46,XX,rcp(12;22)(q13.2;q11.2). According to the published data, all patients with deletion 22q11.2 combined with other unbalanced chromosomal aberration have a more severe clinical expression than those with interstitial deletions.

Two Immigrants with Tuberculosis of the Ear, Nose, and Throat Region with Skull Base and Cranial Nerve Involvement

PubMed Central

Richardus, Renate A.; Jansen, Jeroen C.; Steens, Stefan C. A.; Arend, Sandra M.

2011-01-01

We report two immigrants with tuberculosis of the skull base and a review of the literature. A Somalian man presented with bilateral otitis media, hearing loss, and facial and abducens palsy. Imaging showed involvement of both mastoid and petrous bones, extending via the skull base to the nasopharynx, suggesting tuberculosis which was confirmed by characteristic histology and positive auramine staining, while Ziehl-Neelsen staining and PCR were negative. A Sudanese man presented with torticollis and deviation of the uvula due to paresis of N. IX and XI. Imaging showed a retropharyngeal abscess and lysis of the clivus. Histology, acid-fast staining, and PCR were negative. Both patients had a positive Quantiferon TB Gold in-tube result and improved rapidly after empiric treatment for tuberculosis. Cultures eventually yielded M. tuberculosis. These unusual cases exemplify the many faces of tuberculosis and the importance to include tuberculosis in the differential diagnosis of unexplained problems. PMID:21541186

Visuomotor cerebellum in human and nonhuman primates.

PubMed

Voogd, Jan; Schraa-Tam, Caroline K L; van der Geest, Jos N; De Zeeuw, Chris I

2012-06-01

In this paper, we will review the anatomical components of the visuomotor cerebellum in human and, where possible, in non-human primates and discuss their function in relation to those of extracerebellar visuomotor regions with which they are connected. The floccular lobe, the dorsal paraflocculus, the oculomotor vermis, the uvula-nodulus, and the ansiform lobule are more or less independent components of the visuomotor cerebellum that are involved in different corticocerebellar and/or brain stem olivocerebellar loops. The floccular lobe and the oculomotor vermis share different mossy fiber inputs from the brain stem; the dorsal paraflocculus and the ansiform lobule receive corticopontine mossy fibers from postrolandic visual areas and the frontal eye fields, respectively. Of the visuomotor functions of the cerebellum, the vestibulo-ocular reflex is controlled by the floccular lobe; saccadic eye movements are controlled by the oculomotor vermis and ansiform lobule, while control of smooth pursuit involves all these cerebellar visuomotor regions. Functional imaging studies in humans further emphasize cerebellar involvement in visual reflexive eye movements and are discussed.

The critical role of velocity storage in production of motion sickness

NASA Technical Reports Server (NTRS)

Cohen, Bernard; Dai, Mingjia; Raphan, Theodore; Young, L. R. (Principal Investigator)

2003-01-01

We propose that motion sickness is mediated through the orientation properties of velocity storage in the vestibular system that tend to align eye velocity produced by the angular vestibulo-ocular reflex (aVOR) with gravito-inertial acceleration (GIA). (GIA is the sum of the linear accelerations acting on the head. In the absence of translational accelerations, gravity is the GIA.) We further postulate that motion sickness produced by cross-coupled vestibular stimulation can be characterized by a metric composed of the disparity between the axis of eye rotation and the GIA, the strength of the response to angular motion, and the response duration, as determined by the central vestibular time constant, that is, by the time constant of velocity storage. The nodulus and uvula of the vestibulocerebellum are likely to be the central sites where the disparity is sensed, where the vestibular time constants are habituated, and where links are made to the autonomic system to produce the symptoms and signs.

[2000 year history of tonsillectomy. Images from the history of otorhinolaryngology, highlighted by instruments from the collection of the German Medical History Museum in Ingolstadt].

PubMed

Feldmann, H

1997-12-01

The etymology of the anatomical terms and their use in history are elucidated: "Tonsil" (from Latin tonsa = the oar) in use since Celsus (about 40 AD). The Greek terms of that time, "antiádes", "paristhmia", were not adopted in later medical terminology. "Amygdala" (Greek/Latin = the almond) was introduced by Vesalius in 1543. Vesalius was also the first to depict the tonsils in a specimen of the whole human body; Duverney (1761) gives the first exact depiction of the pharyngeal region. Special anatomical and histological studies of the tonsils were carried out in the 19 century. Cornelius Celsus in Rome (about 40 AD) described the blunt removal of the tonsils by use of the finger. This method was favoured anew by numerous laryngologists at the beginning of the 20th century when it had been realised that a gentle enucleation of the entire tonsil including its capsule was advisable against cutting off a slice, but before long this procedure was discarded again for hygienic reasons. Precursors of special instruments for tonsillectomy were instruments designed for shortening the uvula: uvulotomy. Paré (1564) and Scultetus (1655) devised instruments that permitted placing a thread shaped like a snare around the uvula and cutting it off by strangulation. Hildanus (1646), Scultetus (1655) and Heister (1763) presented an instrument of the guillotine-type for uvulotomy. This instrument was modified by P. S. Physick (USA 1828) and used for tonsillotomy. It became the prototype for a number of similar instruments which were to follow: W. M. F. Fahnestock (USA 1832). M. Mackenzie (London 1880), G. Sluder (USA 1911). Besides these guillotines snares were also perfected and used for tonsillotomy, e.g. by W. Brünings (1908). The concentration on tonsillotomy aimed at performing the operation as quickly as possible, especially in children, as it was not yet possible to sustain general anaesthesia for a longer period of time while doing surgery in the pharynx. The operation of the tonsils, that had been started by general surgeons, at the end of the 19th century became the domain of the otolaryngologists because they had the superior technique of illumination. Important steps of progress were later on mouth-gags combined with tongue-depressors, and placing the head in a suspended and reclined position. This position had already been advocated by Killian in 1920, but it could only be introduced after improved techniques of general anaesthesia were available. These stages of historical development are described and illustrated with many details.

Vestibular signals in macaque extrastriate visual cortex are functionally appropriate for heading perception

PubMed Central

Liu, Sheng; Angelaki, Dora E.

2009-01-01

Visual and vestibular signals converge onto the dorsal medial superior temporal area (MSTd) of the macaque extrastriate visual cortex, which is thought to be involved in multisensory heading perception for spatial navigation. Peripheral otolith information, however, is ambiguous and cannot distinguish linear accelerations experienced during self-motion from those due to changes in spatial orientation relative to gravity. Here we show that, unlike peripheral vestibular sensors but similar to lobules 9 and 10 of the cerebellar vermis (nodulus and uvula), MSTd neurons respond selectively to heading and not to changes in orientation relative to gravity. In support of a role in heading perception, MSTd vestibular responses are also dominated by velocity-like temporal dynamics, which might optimize sensory integration with visual motion information. Unlike the cerebellar vermis, however, MSTd neurons also carry a spatial orientation-independent rotation signal from the semicircular canals, which could be useful in compensating for the effects of head rotation on the processing of optic flow. These findings show that vestibular signals in MSTd are appropriately processed to support a functional role in multisensory heading perception. PMID:19605631

Surgical Management of Duplication of the Pituitary Gland-Plus Syndrome With Epignathus, Cleft Palate, Duplication of Mandible, and Lobulated Tongue.

PubMed

Noguchi, Tadahide; Sugiyama, Tomoko; Sasaguri, Ken-Ichi; Ono, Shigeru; Maeda, Kosaku; Nishino, Hiroshi; Jinbu, Yoshinori; Mori, Yoshiyuki

2017-03-01

A 1-day-old male infant was referred to our department for evaluation of multiple malformations in his oral cavity. He was diagnosed duplication of the pituitary gland-plus syndrome with epignathus, cleft palate, duplication of the mandible, and a lobulated tongue. A thumb-sized mass lesion was visible on the hard palate. The duplicated mandible and lower lip was fused at the midline. The alveolar ridge was protruding through a wide-cleft soft palate involving the uvula. Further examination showed a lobulated tongue, which was seen behind the duplicated part of the mandible. Five days after birth, tracheotomy and epignathus resection were performed. At 7 months of age, the excess tissue of the duplicated mandible was resected at the area of adhesion on the lingual side, and the duplicated tongue and lip were reconstructed. A palatoplasty was performed at 20 months of age. Thereafter, the patient's progress was uneventful, with no abnormality in swallowing. No recurrence of epignathus has been observed during 2 years of follow-up.

Incidence and anatomy of gaze-evoked nystagmus in patients with cerebellar lesions.

PubMed

Baier, Bernhard; Dieterich, Marianne

2011-01-25

Disorders of gaze-holding--organized by a neural network located in the brainstem or the cerebellum--may lead to nystagmus. Based on previous animal studies it was concluded that one key player of the cerebellar part of this gaze-holding neural network is the flocculus. Up to now, in humans there are no systematic studies in patients with cerebellar lesions examining one of the most common forms of nystagmus: gaze-evoked nystagmus (GEN). The aim of our present study was to clarify which cerebellar structures are involved in the generation of GEN. Twenty-one patients with acute unilateral cerebellar stroke were analyzed by means of modern MRI-based voxel-wise lesion-behavior mapping. Our data indicate that cerebellar structures such as the vermal pyramid, the uvula, and the tonsil, but also parts of the biventer lobule and the inferior semilunar lobule, were affected in horizontal GEN. It seems that these structures are part of a gaze-holding neural integrator control system. Furthermore, GEN might present a diagnostic sign pointing toward ipsilesionally located lesions of midline and lower cerebellar structures.

Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.

PubMed

Demeer, Bénédicte; Andrieux, Joris; Receveur, Aline; Morin, Gilles; Petit, Florence; Julia, Sophie; Plessis, Ghislaine; Martin-Coignard, Dominique; Delobel, Bruno; Firth, Helen V; Thuresson, Ann C; Lanco Dosen, Sandrine; Sjörs, Kerstin; Le Caignec, Cedric; Devriendt, Koenraad; Mathieu-Dramard, Michèle

2013-01-01

The introduction of molecular karyotyping technologies into the diagnostic work-up of patients with congenital disorders permitted the identification and delineation of novel microdeletion and microduplication syndromes. Interstitial 16p13.3 duplication, encompassing the CREBBP gene, which is mutated or deleted in the Rubinstein-Taybi syndrome, have been proposed to cause a recognisable syndrome with variable intellectual disability, normal growth, mild facial dysmorphism, mild anomalies of the extremities, and occasional findings such as developmental defects of the heart, genitalia, palate or the eyes. We here report the phenotypic and genotypic delineation of 9 patients carrying a submicroscopic 16p13.3 duplication, including the smallest 16p13.3 duplication reported so far. Careful clinical assessment confirms the distinctive clinical phenotype and also defines frequent associated features : marked speech problems, frequent ocular region involvement with upslanting of the eyes, narrow palpebral fissures, ptosis and strabismus, frequent proximal implantation of thumbs, cleft palate/bifid uvula and inguinal hernia. It also confirms that CREBBP is the critical gene involved in the duplication 16p13.3 syndrome. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

Anatomy of the Vestibulo-automatic Outflow to the Gut

NASA Technical Reports Server (NTRS)

Torigoe, Y.

1985-01-01

Motion sickness can be induced by vestibular effects on the sympathetic portion of the autonomic nervous system. However, the pathways linking the vestibular and autonomic pathways are unknown. As a first step in this analysis, the locations of preganglionic sympathetic neurons (PSN) and dorsal root afferent ganglionic neurons (DRG) which supply sympathetic innervation to major portions of the gastrointestinal tract in rabbits were identified. The objective of a second series of experiments is to determine which of the brainstem nuclei project to the autonomic regions of the spinal cord that control gastrointestinal motility. To achieve this goal, a trans-synaptic retrograde tracer (3H-tetanus toxoid) is applied to the greater splanchnic nerve. This method allows the labeling of neurons within the brainstem that project only to the preganglionic synpathetic neurons. One structure that has been strongly implicated in mediating vestibulo-autonomic control is the cerebellum (i.e., nodulus and uvula). The outflow of these lobules to the autonomic regions of the brainstem is mediated by the fastigial nucleus. To determine the precise projections of the fastigial nucleus to the brainstem nuclei involved in emesis, anterograde tracer (3H-leucine) was injected into the fastigial nucleus in a third series of experiments.

[Treatment of simple snoring by radiofrequency velar coblation].

PubMed

Pessey, J-J; Rose, X; Michenet, F; Calmels, M-N; Lagleyre, S

2005-02-01

Short- and long-term evaluation of the efficacy and safety of radiofrequency velar coblation for simple snoring. From February 2000 to May 2004, 175 patients underwent a single radiofrequency session for velar coblation. All patients suffered from snoring without sleep apnea. They presented modifications of the velo-pharyngeal region but did not have tonsillar or basilingual hypertrophy. Outcome was assessed in terms of pain, changes in snoring, secondary effects and complications at three months and one, two, and three years. Secondary uvulectomy was performed in 28 patients. At three months, snoring had decreased in 82% of patients with complete resolution in 12%. Outcome remained unchanged in 70% of patients at one, two, and three years. After uvulectomy, snoring declined in 96% of patients with complete resolution in 48%. Post-treatment pain lasted less than five days in 68% of patients. Mean duration was three days. Fifteen patients developed pharyngeal paresthesia which regressed at one year. Two patients had a nasal voice and three developed necrosis of the uvula. Velar coblation is a simple treatment for snoring which can be performed in a single session. The best results are achieved in patients whose body mass index is below 25 and after secondary uvulectomy.

The primary vestibular projection to the cerebellar cortex in the pigeon (Columba livia)

DOE Office of Scientific and Technical Information (OSTI.GOV)

Schwarz, I.E.; Schwarz, D.W.

1983-06-01

The cerebellar cortex of the pigeon receiving direct vestibular afferents was delineated by anterograde transport of (/sup 3/H)-amino acids injected into the vestibular nerve. Labelled mossy fiber rosettes in the granular layer were concentrated in lobule X (nodulus) and to a lesser extent, in the ventral portion of lobule IXd (uvula and paraflocculus). A few solitary labelled rosettes were also found in more dorsal portions of lobule IX, as well as in the anterior lobe between lobule II and IV. The lingula remained unlabelled. Discrete injections of (/sup 3/H)-leucine into the cristae of each of the three semicircular canals ormore » the utricular macula yielded a similar distribution of fewer labelled rosettes. A few primary mossy fiber terminals labelled after cochlear injections are attributed to afferents from the lagenar macula. Since effective diffusion of label from the injection site was excluded by controls, it is concluded that projection of individual canal and macula nerves to the vestibulocerebellar cortex is not topographically separated. It is proposed that this extensive convergence of various afferents is required by the cerebellum to compute precise and directionally specific control signals during head rotation in all conceivable planes.« less

Velo-Cardio-Facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

DOE Office of Scientific and Technical Information (OSTI.GOV)

Nickel, R.E.; Pillers, D.M.; Merkens, M.

Approximately 5% of children with neural tube defects (NTDs) have a congenital heart defect and/or cleft lip and palate. The cause of isolated meningomyelocele, congenital heart defects, or cleft lip and palate has been largely thought to be multifactorial. However, chromosomal, teratogenic, and single gene causes of combinations of NTDs with congenital heart defects and/or cleft lip and palate have been reported. We report on 3 patients with meningomyelocele, congenital heart defects, and 22q11 deletions. Two of the children had the clinical diagnosis of velo-cardio-facial syndrome (VCFS); both have bifid uvula. The third child had DiGeorge sequence (DGS). The associationmore » of NTDs with 22q11 deletion has not been reported previously. An accurate diagnosis of the 22q11 deletion is critical as this micro-deletion and its associated clinical problems is transmitted as an autosomal dominant trait due to the inheritance of the deletion-bearing chromosome. We recommend that all children with NTDs and congenital heart defects, with or without cleft palate, have cytogenetic and molecular studies performed to detect 22q11 deletions. 31 refs., 3 figs.« less

Smoking induces oropharyngeal narrowing and increases the severity of obstructive sleep apnea syndrome.

PubMed

Kim, Kyung Soo; Kim, Jun Hee; Park, Sung Yoon; Won, Ho-Ryun; Lee, Hyun-Jin; Yang, Hoon Shik; Kim, Hyun Jik

2012-08-15

Smoking is a known risk factor for snoring, and is reported to be associated with an increased prevalence of obstructive sleep apnea syndrome (OSAS). The purpose of this was to determine the relationship of smoking to the severity of OSAS and examine what local histological changes in the uvular mucosa of OSAS patients might influence this relationship. Fifty-seven OSAS subjects were included and classified according to smoking history and OSAS severity. Twenty-eight subjects were heavy smokers and 29 were nonsmokers; these 57 patients were divided according to moderate or severe OSAS. Histologic changes in the uvular mucosa were evaluated in all subjects as well as smoking duration and OSAS severity. Among smokers, moderate-to-severe OSAS was more common, and apnea, hypopnea, and oxygen desaturation indices were higher. Moreover, smoking duration and OSAS severity were significantly correlated. Increased thickness and edema of the uvular mucosa lamina propria were observed in moderate and severe OSAS patients, and only smokers had significant changes in uvular mucosa histology. Positive staining for calcitonin gene-related peptide (CGRP), a neuroinflammatory marker for peripheral nerves, was increased in the uvular mucosa of smokers. Our results suggest that smoking may worsen OSAS through exacerbation of upper airway collapse at the level of the uvula, and that histological changes of the uvular mucosa correlated with smoking might be due to increased CGRP-related neurogenic inflammation.

Impaired sexual maturation associated with sleep apnea syndrome during puberty: a case study.

PubMed

Mosko, S S; Lewis, E; Sassin, J F

1980-01-01

A 20-year-old hypogonadal man was discovered to have had obstructive sleep apnea syndrome--secondary to hypertrophied tonsils, adenoids, and uvula--spanning the years of puberty. All-night polysomnographic recordings and 24 hr measurements of plasma luteinizing hormone (LH) concentrations (sampling at 20 min intervals) were performed before and after combined tonsillectomy, adenoidectomy, and uvulectomy. Two weeks preoperatively, nocturnal sleep was markedly disturbed by 407 apneic episodes, and the patient was found to be hypogonadotropic. Daytime LH concentrations were in the low-normal range for an adult male, and concentrations fell dramatically during nocturnal sleep. This contrasts with both the sleep-related elevation of LH normally seen in puberty and the adult pattern, where no difference is observed in mean concentrations during waking and sleep. Two week and 6 month postoperative evaluations revealed complete alleviation of the sleep apnea syndrome and normalization of the 24 hr pattern of plasma LH, although LH values remained in the low-normal range. Plasma testosterone concentrations were in the low to low-normal range both pre- and postoperatively. No evidence of continued sexual development, beyond that achieved preoperatively, was observed 20 months after surgery, despite continued relief from apnea. These data suggest that sleep apnea during puberty may impair sexual development by preventing the sleep-related elevation in LH secretion normally observed during a critical period spanning puberty.

Automated cell disruption is a reliable and effective method of isolating RNA from fresh snap-frozen normal and malignant oral mucosa samples.

PubMed

Van der Vorst, Sébastien; Dekairelle, Anne-France; Irenge, Léonid; Hamoir, Marc; Robert, Annie; Gala, Jean-Luc

2009-01-01

This study compared automated vs. manual tissue grinding in terms of RNA yield obtained from oral mucosa biopsies. A total of 20 patients undergoing uvulectomy for sleep-related disorders and 10 patients undergoing biopsy for head and neck squamous cell carcinoma were enrolled in the study. Samples were collected, snap-frozen in liquid nitrogen, and divided into two parts of similar weight. Sample grinding was performed on one sample from each pair, either manually or using an automated cell disruptor. The performance and efficacy of each homogenization approach was compared in terms of total RNA yield (spectrophotometry, fluorometry), mRNA quantity [densitometry of specific TP53 amplicons and TP53 quantitative reverse-transcribed real-time PCR (qRT-PCR)], and mRNA quality (functional analysis of separated alleles in yeast). Although spectrophotometry and fluorometry results were comparable for both homogenization methods, TP53 expression values obtained by amplicon densitometry and qRT-PCR were significantly and consistently better after automated homogenization (p<0.005) for both uvula and tumor samples. Functional analysis of separated alleles in yeast results was better with the automated technique for tumor samples. Automated tissue homogenization appears to be a versatile, quick, and reliable method of cell disruption and is especially useful in the case of small malignant samples, which show unreliable results when processed by manual homogenization.

Increased Levels of S100A8/A9 in Patients with Peritonsillar Abscess: A New Promising Diagnostic Marker to Differentiate between Peritonsillar Abscess and Peritonsillitis.

PubMed

Spiekermann, Christoph; Russo, Antonella; Stenner, Markus; Rudack, Claudia; Roth, Johannes; Vogl, Thomas

2017-01-01

Peritonsillar abscess (PTA) is a very frequent reason for urgent outpatient consultation and otolaryngological hospital admission. Early, correct diagnosis and therapy of peritonsillar abscess are important to prevent possible life-threatening complications. Based on physical examinations, a reliable differentiation between peritonsillar cellulitis and peritonsillar abscess is restricted. A heterodimeric complex called calprotectin consists of the S100 proteins A8 and A9 (S100A8/A9) and is predominantly expressed not only in monocytes and neutrophils but also in epithelial cells. Due to its release by activated phagocytes at local sites of inflammation, we assumed S100A8/A9 to be a potential biomarker for peritonsillar abscess. We examined serum and saliva of patients with peritonsillitis, acute tonsillitis, peritonsillar abscess, and healthy controls and found significantly increased levels of S100A8/A9 in patients with PTA. Furthermore, we could identify halitosis, trismus, uvula edema, and unilateral swelling of the arched palate to be characteristic symptoms for PTA. Using a combination of these characteristic symptoms and S100A8/A9 levels, we developed a PTA score as an objective and appropriate tool to differentiate between peritonsillitis and peritonsillar abscess with a sensitivity of 92% and specificity of 93%.

Constructing a patient-specific computer model of the upper airway in sleep apnea patients.

PubMed

Dhaliwal, Sandeep S; Hesabgar, Seyyed M; Haddad, Seyyed M H; Ladak, Hanif; Samani, Abbas; Rotenberg, Brian W

2018-01-01

The use of computer simulation to develop a high-fidelity model has been proposed as a novel and cost-effective alternative to help guide therapeutic intervention in sleep apnea surgery. We describe a computer model based on patient-specific anatomy of obstructive sleep apnea (OSA) subjects wherein the percentage and sites of upper airway collapse are compared to findings on drug-induced sleep endoscopy (DISE). Basic science computer model generation. Three-dimensional finite element techniques were undertaken for model development in a pilot study of four OSA patients. Magnetic resonance imaging was used to capture patient anatomy and software employed to outline critical anatomical structures. A finite-element mesh was applied to the volume enclosed by each structure. Linear and hyperelastic soft-tissue properties for various subsites (tonsils, uvula, soft palate, and tongue base) were derived using an inverse finite-element technique from surgical specimens. Each model underwent computer simulation to determine the degree of displacement on various structures within the upper airway, and these findings were compared to DISE exams performed on the four study patients. Computer simulation predictions for percentage of airway collapse and site of maximal collapse show agreement with observed results seen on endoscopic visualization. Modeling the upper airway in OSA patients is feasible and holds promise in aiding patient-specific surgical treatment. NA. Laryngoscope, 128:277-282, 2018. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

Ambulatory treatment of sleep apnea syndrome with CO2 laser: laser-assisted UPPP (LAUP), results on 70 patients

NASA Astrophysics Data System (ADS)

Kamami, Yves-Victor

1995-05-01

The pharyngeal airway obstruction during sleep in the Obstructive Sleep Apnea Syndrome (OSAS) can be improved after treatment by LAUP (Laser Assisted Uvulopalatoplasty). This new technique, performed under local anesthesia, permits the snoring treatment without any hospitalization, or general anesthetic; like an ordinary dental visit. This is done by reducing the amount of tissue in the uvula, the velum, and the upper part of the posterior pillars. Our experience with the LAUP in Sleep Apnea Syndrome is described, from December 1988 to May 1994, in 70 patients. Among 62 patients classified as successful `responders', the respiratory disturbance index was reduced more than 50%. Among all the 70 patients: in 51.4 % of cases (36 patients), there's a healing of snoring and Sleep Apnea Syndrome. In 37.2% of cases (26 patients), there's an improvement reduction of length and number of apneas and a significant improvement in nocturnal oxygen saturation. 11.4% (8 patients), are relative failures, with always decrease of snoring, but still Sleep Apnea Syndrome, (with a higher B.M.I.). There were no important complications reported. Patients withstand it well and there's had a better tolerance of the C.P.A.P. in the cases of OSAS LRPP failures. Popularization of LAUP will require serious training of surgeon and further long-term studies.

Ambulatory treatment of snoring with CO2 laser: laser-assisted UPPP (LAUP), results on 856 patients

NASA Astrophysics Data System (ADS)

Kamami, Yves-Victor

1995-05-01

The usual treatment of snoring in the absence of sleep apneas has been UPPP. Patients are often reluctant to undergo this painful procedure under general anesthesia. The Laser Assisted Uvulopalatoplasty (LAUP) is a new procedure, introduced six years ago by the author, using local anesthesia for the treatment of snoring in an office setting. This technique is designed to correct breathing abnormalities during sleep, caused by pharyngeal airway obstruction in patients suffering of Snoring or Obstructive Sleep Apnea Syndrome. This is done by reducing the amount of tissue in the uvula, the velum, and the upper part of the posterior pillars. LAUP allows surgery for the relief of snoring to be performed in the office, under local anesthesia. LAUP has many advantages over the traditional UPPP. It is simple, reliable, hemostatic, and less painful. It is also less expensive as it can be performed as an outpatient. This makes the LAUP more accessible to patients. Our experience with LAUP in 856 patients from December 1988 to July 1994 (141 women and 715 men) is described. Good results were obtained in 94.8% of patients and there were no complications. This new technique can be easily performed by other otolaryngologists after serious suitable training. LAUP provides a simple alternative for many patients who do not wish to undergo a traditional UPPP.

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

PubMed Central

Tegtmeyer, L.C.; Rust, S.; van Scherpenzeel, M.; Ng, B.G.; Losfeld, M.-E.; Timal, S.; Raymond, K.; He, P.; Ichikawa, M.; Veltman, J.; Huijben, K.; Shin, Y.S.; Sharma, V.; Adamowicz, M.; Lammens, M.; Reunert, J.; Witten, A.; Schrapers, E.; Matthijs, G.; Jaeken, J.; Rymen, D.; Stojkovic, T.; Laforêt, P.; Petit, F.; Aumaître, O.; Czarnowska, E.; Piraud, M.; Podskarbi, T.; Stanley, C.A.; Matalon, R.; Burda, P.; Seyyedi, S.; Debus, V.; Socha, P.; Sykut-Cegielska, J.; van Spronsen, F.; de Meirleir, L.; Vajro, P.; DeClue, T.; Ficicioglu, C.; Wada, Y.; Wevers, R.A.; Vanderschaeghe, D.; Callewaert, N.; Fingerhut, R.; van Schaftingen, E.; Freeze, H.H.; Morava, E.; Lefeber, D.J.; Marquardt, T.

2015-01-01

BACKGROUND Congenital disorders of glycosylation are genetic syndromes that result in impaired glycoprotein production. We evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest. METHODS Homozygosity mapping followed by whole-exome sequencing was used to identify a mutation in the gene for phosphoglucomutase 1 (PGM1) in two siblings. Sequencing identified additional mutations in 15 other families. Phosphoglucomutase 1 enzyme activity was assayed on cell extracts. Analyses of glycosylation efficiency and quantitative studies of sugar metabolites were performed. Galactose supplementation in fibroblast cultures and dietary supplementation in the patients were studied to determine the effect on glycosylation. RESULTS Phosphoglucomutase 1 enzyme activity was markedly diminished in all patients. Mass spectrometry of transferrin showed a loss of complete N-glycans and the presence of truncated glycans lacking galactose. Fibroblasts supplemented with galactose showed restoration of protein glycosylation and no evidence of glycogen accumulation. Dietary supplementation with galactose in six patients resulted in changes suggestive of clinical improvement. A new screening test showed good discrimination between patients and controls. CONCLUSIONS Phosphoglucomutase 1 deficiency, previously identified as a glycogenosis, is also a congenital disorder of glycosylation. Supplementation with galactose leads to biochemical improvement in indexes of glycosylation in cells and patients, and supplementation with complex carbohydrates stabilizes blood glucose. A new screening test has been developed but has not yet been validated. (Funded by the Netherlands Organization for Scientific Research and others.) PMID:24499211

Effect of Age and Severity of Facial Palsy on Taste Thresholds in Bell's Palsy Patients

PubMed Central

Park, Jung Min; Kim, Myung Gu; Jung, Junyang; Kim, Sung Su; Jung, A Ra; Kim, Sang Hoon

2017-01-01

Background and Objectives To investigate whether taste thresholds, as determined by electrogustometry (EGM) and chemical taste tests, differ by age and the severity of facial palsy in patients with Bell's palsy. Subjects and Methods This study included 29 patients diagnosed with Bell's palsy between January 2014 and May 2015 in our hospital. Patients were assorted into age groups and by severity of facial palsy, as determined by House-Brackmann Scale, and their taste thresholds were assessed by EGM and chemical taste tests. Results EGM showed that taste thresholds at four locations on the tongue and one location on the central soft palate, 1 cm from the palatine uvula, were significantly higher in Bell's palsy patients than in controls (p<0.05). In contrast, chemical taste tests showed no significant differences in taste thresholds between the two groups (p>0.05). The severity of facial palsy did not affect taste thresholds, as determined by both EGM and chemical taste tests (p>0.05). The overall mean electrical taste thresholds on EGM were higher in younger Bell's palsy patients than in healthy subjects, with the difference at the back-right area of the tongue differing significantly (p<0.05). In older individuals, however, no significant differences in taste thresholds were observed between Bell's palsy patients and healthy subjects (p>0.05). Conclusions Electrical taste thresholds were higher in Bell's palsy patients than in controls. These differences were observed in younger, but not in older, individuals. PMID:28417103

Correlation of cephalometric and anthropometric measures with obstructive sleep apnea severity

PubMed Central

Borges, Paulo de Tarso M; Filho, Edson Santos Ferreira; Araujo, Telma Maria Evangelista de; Neto, Jose Machado Moita; Borges, Nubia Evangelista de Sa; Neto, Baltasar Melo; Campelo, Viriato; Paschoal, Jorge Rizzato; Li, Li M

2013-01-01

Summary Introduction: Patients with obstructive sleep apnea-hypopnea syndrome (OSAHS) often have associated changes in craniofacial morphology and distribution of body fat, either alone or in combination. Aim: To correlate cephalometric and anthropometric measures with OSAHS severity by using the apnea-hypopnea index (AHI). Method: A retrospective cephalometry study of 93 patients with OSAHS was conducted from July 2010 to July 2012. The following measurements were evaluated: body mass index (BMI), neck circumference (NC), waist circumference (WC), hip circumference (HC), the angles formed by the cranial base and the maxilla (SNA) and the mandible (SNB), the difference between SNA and SNB (ANB), the distance from the mandibular plane to the hyoid bone (MP-H), the space between the base of the tongue and the posterior pharyngeal wall (PAS), and the distance between the posterior nasal spine and the tip of the uvula (PNS-P). Means, standard deviations, and Pearson's correlation coefficients were calculated and analyzed. Results: AHI correlated significantly with BMI (r = 0.207, p = 0.047), NC (r = 0.365, p = 0.000), WC (r = 0.337, p = 0.001), PNS-P (r = 0.282, p = 0.006), and MP-H (r = 0.235, p = 0.023). Conclusion: Anthropometric measurements (BMI, NC, and WC) and cephalometric measurements (MP-H and PNS-P) can be used as predictors of OSAHS severity. PMID:25992029

Repair of a submucous cleft palate by W-pushback and levator repositioning without incision to the nasal mucosa.

PubMed

Hwang, Kun

2012-03-01

The author created an innovative method of W-pushback and levator repositioning without having to make an incision to the nasal mucosa for submucous cleft palate repair.The W-shaped mucoperiosteal flap is outlined where the 2 peaks of W are the alveolar processes of both canine teeth and the midpoint of W is the anterior limit of the cleft notch of the hard palate. A short incision, medial to and behind the maxillary tuberosity and curved forward onto the palate and extended forward just medial to the alveolar process, is joined by a second incision from the apex of the cleft to the region of the canine tooth. The W-shaped mucoperiosteal flap is raised until the midline notch of the hard palate is exposed. The nasal mucosa and abnormally inserted levator veli palatini muscle to the posterior border of the hard palate bone are detached. By leaving the nasal mucosa intact, the detached levator veli palatini muscle is approximated at the midline and so the zona pellucida is obliterated. The cleft uvulas are cut in half and closed. The approximated W-flap is joined to the small anterior flap by 1 or more sutures (the W-pushback).Three patients were operated on with this technique without serious complications.The author believes that this method can make the levator sling and increase the length of the soft palate without making an incision to the nasal mucosa.

Evaluation of 22q11.2 deletion in Cleft Palate patients

PubMed Central

Prabodha, L. B. Lahiru; Dias, Dayanath Kumara; Nanayakkara, B. Ganananda; de Silva, Deepthi C.; Chandrasekharan, N. Vishvanath; Ileyperuma, Isurani

2012-01-01

Background: Cleft palate is the commonest multifactorial epigenetic disorder with a prevalence of 0.43-2.45 per 1000. The objectives of this study were to evaluate the clinical features and identify the 22q11.2 deletion in patients with cleft palate in Sri Lanka. Materials and Methods: Cleft patients attending a Teaching Hospital in Sri Lanka were recruited for this study. The relevant data were obtained from review of case notes, interviews, and examination of patients according to a standard evaluation sheet. Quantitative multiplex polymerase chain reaction (PCR) was performed to identify the 22q11.2 deletion. A gel documentation system (Bio-Doc) was used to quantify the PCR product following electrophoresis on 0.8% agarose gel. Results and Conclusion: There were 162 cleft palate patients of whom 59% were females. A total of 92 cleft palate subjects (56.2%) had other associated clinical features. Dysmorphic features (25.27%) and developmental delays (25.27%) were the commonest medical problems encountered. The cleft was limited to the soft palate in 125 patients, while in 25 patients it involved both the hard and the soft palate. There were seven subjects with bifid uvula and five subjects with submucous cleft palate. None of the patients had 22q11.2 deletion in this study population. A multicentered large population-based study is needed to confirm the results of this study and to develop guidelines on the appropriate use of 22q11.2 deletion testing, which are valid for cleft palate patients in Sri Lanka. PMID:23483617

Abundances and test weights of living planktic foraminifers across the Southwest Indian Ocean: Implications for carbon fluxes

NASA Astrophysics Data System (ADS)

Meilland, J.; Schiebel, R.; Lo Monaco, C.; Sanchez, S.; Howa, H.

2018-01-01

Calcifying marine organisms include planktic foraminifers that contribute to the marine carbon turnover by generating inorganic carbon production (CaCO3, shell) and flux. In this study, we have analyzed assemblages at the morphospecies level and abundances of living planktic foraminifers (LPF) from ten stations located in the Southwest Indian Ocean, and sampled in austral summer 2012. LPF density ranges from zero in the Subtropical Zone (STZ) to 944 individuals m-3 in the Polar Frontal Zone (PFZ), and is composed by up to 80% by the four species Neogloboquadrina pachyderma, Neogloboquadrina incompta, Globigerina bulloides, and Globigerinita uvula. For the entire region, we measured the individual morphometry and test mass (CaCO3) of 454 tests of living planktic foraminifers in order to calculate inorganic carbon standing stocks, as well as carbon flux. In the STZ, the average daily planktic foraminifer CaCO3 flux at 100 m water depth is low (< 0.22 mg m-2 d-1), whereas south of the Sub-Antarctic Zone (SAZ), in the PFZ and Antarctic Zone (AAZ), it reaches up to 49.41 mg m-2 d-1, and 2.20 mg m-2 d-1, respectively. The large regional variability in CaCO3 production and flux of LPF assemblages affects the marine carbonate system to varying degrees, depending on hydrological conditions. We conclude that recent changes in the position of hydrological fronts could induce a decrease in the LPF-related carbonate counter pump, which increases the oceanic uptake of CO2, and counteracts climate warming.

Bony defect of palate and vomer in submucous cleft palate patients.

PubMed

Ren, S; Ma, L; Zhou, X; Sun, Z

2015-01-01

The aim of this study was to visualize bony defects of the palate and vomer in submucous cleft palate patients (SMCP) by three-dimensional (3D) computed tomography (CT) reconstruction and to classify the range of bony defects. Forty-eight consecutive non-operated SMCP patients were included. Diagnosis was based on the presence of at least one of three classical signs of SMCP: bifid uvula, a translucent zone in the midline of the soft palate, and a palpable 'V' notch on the posterior border of the bony palate. Patients were imaged using spiral CT. 3D reconstruction models were created of the palate and vomer. The sagittal extent of the bony cleft in SMCP was classified into four types: type I, no V-shaped hard palate cleft (8.3%); type II, cleft involving the partial palate (43.8%); type III, cleft involving the complete palate and extending to the incisive foramen (43.8%); type IV, cleft involving the complete palate and the alveolar bone (4.2%). The extent of the vomer defect was classified into three types: type A, vomer completely fused with the palate (8.3%); type B, vomer partially fused with the palate (43.8%); type C, vomer not fused with the palate up to the incisive foramen (47.9%). Significant variability in hard palate defects in SMCP is the rule rather than the exception. The association of velopharyngeal insufficiency with anatomical malformations may be complex. Copyright © 2014 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

[Non-Hodgkin's malignant lymphoma with cervicofacial expression. Modulation of the radiotherapy-chemotherapy combination according to the cytological class].

PubMed

Bolla, M; Sotto, J J; Sotto, M F; Junien Lavillauroy, C; Bryon, J P; Vrousos, C; Holland, D

1984-01-01

An analysis was conducted in March 1983, after a mean follow up of 40 months, of cases of cervicofacial stages I and II non-Hodgkins malignant lymphoma in 3 children and 41 adults (mean age: 51 years, range: 6-90 years) treated between 1969 and March 1981. According to the Working Formulation malignancy was low in 4 cases, intermediate in 24 and high in 13; 3 cases could not ne classified retrospectively. Cytologic classification showed 13 of class 1 of low malignancy, 7 of class 2 of high malignancy with leukemic potential, and 16 of class 3 of high malignancy with a course leading to tumor formation. The cavum was involved in 10 cases, the tonsils in 9, the parotids in 1, the uvula in 1, isolated cervical adenopathies in 14, multiple unilateral adenopathies in 3 and bilateral cervical adenopathies in 5 cases. Therapy varied according to the series: in the first series (1969-1975) the 23 cases were treated by radiotherapy alone (40-55 Gy). In the second series (1976-1981) of 21 cases, chemotherapy was given as a function of the cytologic class: prophylactic chemotherapy for 6 months after radiation for classes 1 and 2, initial chemotherapy for 6 weeks, cerebral radiation and methotrexate intrathecally, and maintenance chemotherapy for 3 months in class 3. The failure rate for radiated zones was identical in the 2 series (less than 10%). Adjusted 5-year survival rate was 60% for series 1 against 70% for series 2 (p = 0.9), and adjusted remission rate was 43% against 64% (p = 0.8).

An fMRI study on variation of visuospatial cognitive performance of young male due to highly concentrated oxygen administration

NASA Astrophysics Data System (ADS)

Chung, Soon Cheol; Kim, Ik Hyeon; Tack, Gye Rae; Sohn, Jin Hun

2004-04-01

This study investigated the effects of 30% oxygen administration on the visuospatial cognitive performance using fMRI. Eight college students (right-handed, average age 23.5) were selected as subjects for this study. Oxygen supply equipment which gives 21% and 30% oxygen at a constant rate of 8L/min was developed for this study. To measure the performance of visuospatial cognition, two questionnaires with similar difficulty containing 20 questions each were also developed. Experiment was designed as two runs: run for visuospatial cognition test with normal air (21% of oxygen) and run for visuospatial cognition test with highly concentrated air (30% of oxygen). Run consists of 4 blocks and each block has 8 control problems and 5 visuospatial problems. Functional brain images were taken from 3T MRI using single-shot EPI method. Activities of neural network due to performing visuospatial cognition test were identified using subtraction procedure, and activation areas while performing visuospatial cognition test were extracted using double subtraction procedure. Activities were observed at occipital lobe, parietal lobe, and frontal lobe when performing visuospatial cognition test following both 21% and 30% oxygen administration. But in case of only 30% oxygen administration there were more activities at left precuneus, left cuneus, right postcentral gyrus, bilateral middle frontal gyri, right inferior frontal gyrus, left superior frontal gyrus, bilateral uvula, bilateral pyramis, and nodule compared with 21% oxygen administration. From results of visuospatial cognition test, accuracy rate increased in case of 30% oxygen administration. Thus it could be concluded that highly concentrated oxygen administration has positive effects on the visuospatial cognitive performance.

Valve-sparing aortic root replacement in Loeys-Dietz syndrome.

PubMed

Patel, Nishant D; Arnaoutakis, George J; George, Timothy J; Allen, Jeremiah G; Alejo, Diane E; Dietz, Harry C; Cameron, Duke E; Vricella, Luca A

2011-08-01

Loeys-Dietz syndrome (LDS) is a recently recognized aggressive aortic disorder characterized by root aneurysm, arterial tortuosity, hypertelorism, and bifid uvula or cleft palate. The results of prophylactic root replacement using valve-sparing procedures (valve-sparing root replacement [VSRR]) in patients with LDS is not known. We reviewed all patients with clinical and genetic (transforming growth factor-β receptor mutations) evidence of LDS who underwent VSRR at our institution. Echocardiographic and clinical data were obtained from hospital and follow-up clinic records. From 2002 to 2009, 31 patients with a firm diagnosis of LDS underwent VSRR for aortic root aneurysm. Mean age was 15 years, and 24 (77%) were children. One (3%) patient had a bicuspid aortic valve. Preoperative sinus diameter was 3.9±0.8 cm (z score 7.0±2.9) and 2 (6%) had greater than 2+ aortic insufficiency. Thirty patients (97%) underwent reimplantation procedures using a Valsalva graft. There were no operative deaths. Mean follow-up was 3.6 years (range, 0 to 7 years). One patient required late repair of a pseudoaneurysm at the distal aortic anastomosis, and 1 had a conversion to a David reimplantation procedure after a Florida sleeve operation. No patient suffered thromboembolism or endocarditis, and 1 (3%) patient experienced greater than 2+ late aortic insufficiency. No patient required late aortic valve repair or replacement. Loeys-Dietz syndrome is an aggressive aortic aneurysm syndrome that can be addressed by prophylactic aortic root replacement with low operative risk. Valve-sparing procedures have encouraging early and midterm results, similar to those in Marfan syndrome, and are an attractive option for young patients. Copyright © 2011 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Snoring intensity after a first session of soft palate radiofrequency: predictive value of the final result.

PubMed

Blumen, Marc Bernard; Vezina, Jean Philippe; Bequignon, Emilie; Chabolle, Frederic

2013-06-01

To determine whether snoring sound intensity measured after a first soft palate radiofrequency (RF) session for simple snoring helps predict the final result of the treatment. Observational retrospective study. We conducted a retrospective review of 105 subjects presenting with simple snoring or mild sleep apnea. All patients underwent two to three sessions of RF-assisted stiffening of the soft palate. In addition, uvulectomy was performed in case of a long uvula, and two paramedian trenches were created in the presence of palatal webbing. Snoring sound intensity was evaluated by the bed partner after each session. Eighty-six men and 19 women were included in the study. Mean age was 51.7 ± 9.8 years, and mean body mass index was 24.7 ± 4.4 kg/m(2) . The mean apnea/hypopnea index was 6.6 ± 4.2/h. The mean snoring sound intensity, as evaluated on a 10-cm visual analog scale (VAS), decreased from 8.2 ± 1.5 to 3.5 ± 2.2 after all sessions (P < .0001). A score of 3 was determined as being a score that satisfied the bed partner. Two groups were formed according to the final snoring sound intensity, using 3 as a threshold. Both groups had similar preoperative characteristics, but the snoring sound intensity was significantly lower after the first session in the group with final score <3 (P = .01). Similarly, a VAS score >7 after the first session was associated with a final score <3 in 30% of the cases. Snoring sound intensity after the first RF session helps predict the final outcome of RF-assisted stiffening of the soft palate for simple snoring. Copyright © 2012 The American Laryngological, Rhinological and Otological Society, Inc.

Smoking Induces Oropharyngeal Narrowing and Increases the Severity of Obstructive Sleep Apnea Syndrome

PubMed Central

Kim, Kyung Soo; Kim, Jun Hee; Park, Sung Yoon; Won, Ho-Ryun; Lee, Hyun-Jin; Yang, Hoon Shik; Kim, Hyun Jik

2012-01-01

Objective: Smoking is a known risk factor for snoring, and is reported to be associated with an increased prevalence of obstructive sleep apnea syndrome (OSAS). The purpose of this was to determine the relationship of smoking to the severity of OSAS and examine what local histological changes in the uvular mucosa of OSAS patients might influence this relationship. Study Design and Methods: Fifty-seven OSAS subjects were included and classified according to smoking history and OSAS severity. Twenty-eight subjects were heavy smokers and 29 were nonsmokers; these 57 patients were divided according to moderate or severe OSAS. Histologic changes in the uvular mucosa were evaluated in all subjects as well as smoking duration and OSAS severity. Results: Among smokers, moderate-to-severe OSAS was more common, and apnea, hypopnea, and oxygen desaturation indices were higher. Moreover, smoking duration and OSAS severity were significantly correlated. Increased thickness and edema of the uvular mucosa lamina propria were observed in moderate and severe OSAS patients, and only smokers had significant changes in uvular mucosa histology. Positive staining for calcitonin gene-related peptide (CGRP), a neuroinflammatory marker for peripheral nerves, was increased in the uvular mucosa of smokers. Conclusions: Our results suggest that smoking may worsen OSAS through exacerbation of upper airway collapse at the level of the uvula, and that histological changes of the uvular mucosa correlated with smoking might be due to increased CGRP-related neurogenic inflammation. Citation: Kim KS; Kim JH; Park SY; Won HR; Lee HJ; Yang HS; Kim HJ. Smoking induces oropharyngeal narrowing and increases the severity of obstructive sleep apnea syndrome. J Clin Sleep Med 2012;8(4):367-374. PMID:22893766

Oral and maxillofacial pathology submitted to Rizgary Teaching Hospital: a 6-year retrospective study.

PubMed

Yakin, Muhammed; Jalal, Jalal A; Al-Khurri, Luay E; Rich, Alison M

2016-04-01

The majority of surveys concerning oral pathology accessions have focused on specific pathological categories or particular age groups, and few studies have analysed the whole range of specimens submitted for histopathological examination. An analysis of all oral pathology submitted to the Department of Histopathology in Rizgary Teaching Hospital in Erbil, Iraq, during the 6-year period 2008-2013, was performed. Histopathology samples (excluding smears) from the maxillae, mandible, salivary glands, the lips and oral mucosa, the tongue, the hard and soft palate and uvula, and the pillars of the fauces were included. The specimens were grouped into six diagnostic categories: oral mucosal and skin pathology; benign neoplasms; malignant neoplasms; non-neoplastic salivary gland disorders; cysts; and miscellaneous pathology. The total number of oral and maxillofacial specimens was 616 of 20,571 specimens. One-third of the oral and maxillofacial specimens were in the mucosal and skin pathology category, followed by benign neoplasms (24.2%) - of which 26.8% were odontogenic tumours and 42.6% were salivary gland tumours - and malignant neoplasms (n = 100, 16.2%). Neoplastic (n = 62) and non-neoplastic (n = 41) salivary gland disorders accounted for 16.7% (n = 103) of the specimens submitted, whereas odontogenic cysts (n = 34) and tumours (n = 40) comprised 5.5% and 6.5% of all biopsies. Many of our findings are consistent with those reported in the literature. However, a relatively larger proportion of neoplastic lesions were found in our cohort and in other Iraqi centres. Of concern to practising clinicians in Iraq is that one in 10 biopsies submitted was a squamous cell carcinoma and three in 20 accessions were malignant. © 2016 FDI World Dental Federation.

Studying Life Effects & Effectiveness of Palatopharyngoplasty (SLEEP) Study: Subjective Outcomes of Isolated Uvulopalatopharyngoplasty

PubMed Central

Weaver, Edward M.; Woodson, B. Tucker; Yueh, Bevan; Smith, Timothy; Stewart, Michael G.; Hannley, Maureen; Schulz, Kristine; Patel, Milesh M.; Witsell, David

2018-01-01

OBJECTIVE To test the hypothesis that uvulopalatopharyngoplasty (UPPP) improves sleep apnea-related quality of life (measured on the Functional Outcomes of Sleep Questionnaire [FOSQ]) at three-month follow-up. Secondary objectives were to test: 1) the stability of the outcomes at six months, 2) the effect on global sleep apnea quality of life change, and 3) the effect on sleep apnea symptoms. STUDY DESIGN Multicenter, prospective, longitudinal case series. SETTING Diverse university- and community-based otolaryngology practices. SUBJECTS AND METHODS The cohort included 68 patients from 17 practices, with a mean±standard deviation age of 44±12 years and mean apnea-hypopnea index 35±32 events/hour. All patients underwent UPPP, defined as an open procedure modifying the shape and size of the palate, pharynx, and uvula, with or without tonsillectomy. Baseline data were collected on-site before surgery, and outcome data were collected by mail three and six months after surgery, with follow-up rates of 51% and 50%, respectively. RESULTS FOSQ scores improved from 14.3±3.4 (scale 5–20, normal ≥17.9) at baseline to 17.2±2.7 at three months (mean improvement 2.9, 95% confidence interval [1.8, 4.0], p<0.001) and 17.5±2.5 at six months (mean improvement 3.1, 95% confidence interval [2.0, 4.2], p<0.001). All quality of life and symptom measures improved significantly at three and six months (all p<0.05). CONCLUSION This prospective, multicenter, university- and community-based study provides evidence that UPPP significantly improves disease-specific quality of life and sleep apnea symptoms in patients with sleep apnea. Validity may be limited by significant loss to follow-up and absence of an unoperated control group. PMID:21493246

Unique expression of cytoskeletal proteins in human soft palate muscles.

PubMed

Shah, Farhan; Berggren, Diana; Holmlund, Thorbjörn; Levring Jäghagen, Eva; Stål, Per

2016-03-01

The human oropharyngeal muscles have a unique anatomy with diverse and intricate functions. To investigate if this specialization is also reflected in the cytoarchitecture of muscle fibers, intermediate filament proteins and the dystrophin-associated protein complex have been analyzed in two human palate muscles, musculus uvula (UV) and musculus palatopharyngeus (PP), with immunohistochenmical and morphological techniques. Human limb muscles were used as reference. The findings show that the soft palate muscle fibers have a cytoskeletal architecture that differs from the limb muscles. While all limb muscles showed immunoreaction for a panel of antibodies directed against different domains of cytoskeletal proteins desmin and dystrophin, a subpopulation of palate muscle fibers lacked or had a faint immunoreaction for desmin (UV 11.7% and PP 9.8%) and the C-terminal of the dystrophin molecule (UV 4.2% and PP 6.4%). The vast majority of these fibers expressed slow contractile protein myosin heavy chain I. Furthermore, an unusual staining pattern was also observed in these fibers for β-dystroglycan, caveolin-3 and neuronal nitric oxide synthase nNOS, which are all membrane-linking proteins associated with the dystrophin C-terminus. While the immunoreaction for nNOS was generally weak or absent, β-dystroglycan and caveolin-3 showed a stronger immunostaining. The absence or a low expression of cytoskeletal proteins otherwise considered ubiquitous and important for integration and contraction of muscle cells indicate a unique cytoarchitecture designed to meet the intricate demands of the upper airway muscles. It can be concluded that a subgroup of muscle fibers in the human soft palate appears to have special biomechanical properties, and their unique cytoarchitecture must be taken into account while assessing function and pathology in oropharyngeal muscles. © 2015 Anatomical Society.

Diagnosing subtle palatal anomalies: Validation of video-analysis and assessment protocol for diagnosing occult submucous cleft palate.

PubMed

Rourke, Ryan; Weinberg, Seth M; Marazita, Mary L; Jabbour, Noel

2017-09-01

Submucous cleft palate (SMCP) classically involves bifid uvula, zona pellucida, and notched hard palate. However, patients may present with more subtle anatomic abnormalities. The ability to detect these abnormalities is important for surgeons managing velopharyngeal dysfunction (VPD) or considering adenoidectomy. Validate an assessment protocol for diagnosis of occult submucous cleft palate (OSMCP) and identify physical examination features present in patients with OSMCP in the relaxed and activated palate positions. Study participants included patients referred to a pediatric VPD clinic with concern for hypernasality or SMCP. Using an appropriately encrypted iPod touch, transoral video was obtained for each patient with the palate in the relaxed and activated positions. The videos were reviewed by two otolaryngologists in normal speed and slow-motion, as needed, and a questionnaire was completed by each reviewer pertaining to the anatomy and function of the palate. 47 patients, with an average age of 4.6 years, were included in the study over a one-year period. Four videos were unusable due to incomplete view of the palate. The most common palatal abnormality noted was OSMCP, diagnosed by each reviewer in 26/43 and 30/43 patients respectively. Using the assessment protocol, agreement on palatal diagnosis was 83.7% (kappa = 0.68), indicating substantial agreement, with the most prevalent anatomic features being vaulted palate elevation (96%) and visible notching of hard palate (75%). The diagnosis of subtle palatal anomalies is difficult and can be subjective. Using the proposed video-analysis method and assessment protocol may improve reliability of diagnosis of OSMCP. Copyright © 2017 Elsevier B.V. All rights reserved.

Differential central projections of vestibular afferents in pigeons

NASA Technical Reports Server (NTRS)

Dickman, J. D.; Fang, Q.

1996-01-01

The question of whether a differential distribution of vestibular afferent information to central nuclear neurons is present in pigeons was studied using neural tracer compounds. Discrete tracing of afferent fibers innervating the individual semicircular canal and otolith organs was produced by sectioning individual branches of the vestibular nerve that innervate the different receptor organs and applying crystals of horseradish peroxidase, or a horseradish peroxidase/cholera toxin mixture, or a biocytin compound for neuronal uptake and transport. Afferent fibers and their terminal distributions within the brainstem and cerebellum were visualized subsequently. Discrete areas in the pigeon central nervous system that receive primary vestibular input include the superior, dorsal lateral, ventral lateral, medial, descending, and tangential vestibular nuclei; the A and B groups; the intermediate, medial, and lateral cerebellar nuclei; and the nodulus, the uvula, and the paraflocculus. Generally, the vertical canal afferents projected heavily to medial regions in the superior and descending vestibular nuclei as well as the A group. Vertical canal projections to the medial and lateral vestibular nuclei were observed but were less prominent. Horizontal canal projections to the superior and descending vestibular nuclei were much more centrally located than those of the vertical canals. A more substantial projection to the medial and lateral vestibular nuclei was seen with horizontal canal afferents compared to vertical canal fibers. Afferents innervating the utricle and saccule terminated generally in the lateral regions of all vestibular nuclei in areas that were separate from the projections of the semicircular canals. In addition, utricular fibers projected to regions in the vestibular nuclei that overlapped with the horizontal semicircular canal terminal fields, whereas saccular afferents projected to regions that received vertical canal fiber terminations. Lagenar afferents projected throughout the cochlear nuclei, to the dorsolateral regions of the cerebellar nuclei, and to lateral regions of the superior, lateral, medial, and descending vestibular nuclei.

Organization of projections from the raphe nuclei to the vestibular nuclei in rats

NASA Technical Reports Server (NTRS)

Halberstadt, A. L.; Balaban, C. D.

2003-01-01

Previous anatomic and electrophysiological evidence suggests that serotonin modulates processing in the vestibular nuclei. This study examined the organization of projections from serotonergic raphe nuclei to the vestibular nuclei in rats. The distribution of serotonergic axons in the vestibular nuclei was visualized immunohistochemically in rat brain slices using antisera directed against the serotonin transporter. The density of serotonin transporter-immunopositive fibers is greatest in the superior vestibular nucleus and the medial vestibular nucleus, especially along the border of the fourth ventricle; it declines in more lateral and caudal regions of the vestibular nuclear complex. After unilateral iontophoretic injections of Fluoro-Gold into the vestibular nuclei, retrogradely labeled neurons were found in the dorsal raphe nucleus (including the dorsomedial, ventromedial and lateral subdivisions) and nucleus raphe obscurus, and to a minor extent in nucleus raphe pallidus and nucleus raphe magnus. The combination of retrograde tracing with serotonin immunohistofluorescence in additional experiments revealed that the vestibular nuclei receive both serotonergic and non-serotonergic projections from raphe nuclei. Tracer injections in densely innervated regions (especially the medial and superior vestibular nuclei) were associated with the largest numbers of Fluoro-Gold-labeled cells. Differences were observed in the termination patterns of projections from the individual raphe nuclei. Thus, the dorsal raphe nucleus sends projections that terminate predominantly in the rostral and medial aspects of the vestibular nuclear complex, while nucleus raphe obscurus projects relatively uniformly throughout the vestibular nuclei. Based on the topographical organization of raphe input to the vestibular nuclei, it appears that dense projections from raphe nuclei are colocalized with terminal fields of flocculo-nodular lobe and uvula Purkinje cells. It is hypothesized that raphe-vestibular connections are organized to selectively modulate processing in regions of the vestibular nuclear complex that receive input from specific cerebellar zones. This represents a potential mechanism whereby motor activity and behavioral arousal could influence the activity of cerebellovestibular circuits.

Failure to thrive as primary feature in two patients with subtle chromosomal aneuploidy: Interstitial deletion 2q33

DOE Office of Scientific and Technical Information (OSTI.GOV)

Grace, K.; Mulla, W.; Stump, T.

1994-09-01

It is well known that patients with chromosomal aneuploidy present with multiple congenital anomalies and dysmorphia, and that they may have associated failure to thrive. However, rarely is failure to thrive the predominant presenting feature. We report two such patients. Patient 1 had a marked history of failure to thrive, (weight 50% for 5 1/2 months at 20 months, length 50% for 15 months at 20 months). Patient 2 was noted to be growth retarded at 2 months upon presenting to the hospital with respiratory symptoms (weight 50% for a newborn, length 50% for 36 weeks gestation). There was relativemore » head sparing in both patients. Chromosome analysis in patient 1, prompted by a negative work-up for the failure to thrive, and emerging evidence of developmental delay, revealed a 46,XY,del(2)(q32.2q33) karyotype. Chromosome analysis in patient 2, done as part of a complete workup for the failure to thrive, revealed a 46,XX,del(2)(q33.2q33.2 or q33.2q33.3) karyotype. On careful examination, subtle dysmorphic features were seen. In both patients these included a long flat philtrum, thin upper lip and high arched palate. Patient 1 also had a small posterior cleft of the palate. These patients have the smallest interstitial deletions of chromosome 2 so far reported. Their deletions overlap within 2q33 although they are not identical. Review of the literature reveals 15 patients with interstitial deletions which include 2q33. Marked growth retardation is reported in 14 of these cases. Cleft palate/abnormal uvula were frequently associated. These cases illustrate the need to include high resolution chromosomal studies as part of a complete work-up for unexplained failure to thrive.« less

Transneuronal pathways to the vestibulocerebellum

NASA Technical Reports Server (NTRS)

Kaufman, G. D.; Mustari, M. J.; Miselis, R. R.; Perachio, A. A.

1996-01-01

The alpha-herpes virus (pseudorabies, PRV) was used to observe central nervous system (CNS) pathways associated with the vestibulocerebellar system. Retrograde transneuronal migration of alpha-herpes virions from specific lobules of the gerbil and rat vestibulo-cerebellar cortex was detected immunohistochemically. Using a time series analysis, progression of infection along polyneuronal cerebellar afferent pathways was examined. Pressure injections of > 20 nanoliters of a 10(8) plaque forming units (pfu) per ml solution of virus were sufficient to initiate an infectious locus which resulted in labeled neurons in the inferior olivary subnuclei, vestibular nuclei, and their afferent cell groups in a progressive temporal fashion and in growing complexity with increasing incubation time. We show that climbing fibers and some other cerebellar afferent fibers transported the virus retrogradely from the cerebellum within 24 hours. One to three days after cerebellar infection discrete cell groups were labeled and appropriate laterality within crossed projections was preserved. Subsequent nuclei labeled with PRV after infection of the flocculus/paraflocculus, or nodulus/uvula, included the following: vestibular (e.g., z) and inferior olivary nuclei (e.g., dorsal cap), accessory oculomotor (e.g., Darkschewitsch n.) and accessory optic related nuclei, (e.g., the nucleus of the optic tract, and the medial terminal nucleus); noradrenergic, raphe, and reticular cell groups (e.g., locus coeruleus, dorsal raphe, raphe pontis, and the lateral reticular tract); other vestibulocerebellum sites, the periaqueductal gray, substantia nigra, hippocampus, thalamus and hypothalamus, amygdala, septal nuclei, and the frontal, cingulate, entorhinal, perirhinal, and insular cortices. However, there were differences in the resulting labeling between infection in either region. Double-labeling experiments revealed that vestibular efferent neurons are located adjacent to, but are not included among, flocculus-projecting supragenual neurons. PRV transport from the vestibular labyrinth and cervical muscles also resulted in CNS infections. Virus propagation in situ provides specific connectivity information based on the functional transport across synapses. The findings support and extend anatomical data regarding vestibulo-olivo-cerebellar pathways.

Weight-Bearing MR Imaging as an Option in the Study of Gravitational Effects on the Vocal Tract of Untrained Subjects in Singing Phonation

PubMed Central

Traser, Louisa; Burdumy, Michael; Richter, Bernhard; Vicari, Marco; Echternach, Matthias

2014-01-01

Magnetic Resonance Imaging (MRI) of subjects in a supine position can be used to evaluate the configuration of the vocal tract during phonation. However, studies of speech phonation have shown that gravity can affect vocal tract shape and bias measurements. This is one of the reasons that MRI studies of singing phonation have used professionally trained singers as subjects, because they are generally considered to be less affected by the supine body position and environmental distractions. A study of untrained singers might not only contribute to the understanding of intuitive singing function and aid the evaluation of potential hazards for vocal health, but also provide insights into the effect of the supine position on singers in general. In the present study, an open configuration 0.25 T MRI system with a rotatable examination bed was used to study the effect of body position in 20 vocally untrained subjects. The subjects were asked to sing sustained tones in both supine and upright body positions on different pitches and in different register conditions. Morphometric measurements were taken from the acquired images of a sagittal slice depicting the vocal tract. The analysis concerning the vocal tract configuration in the two body positions revealed differences in 5 out of 10 measured articulatory parameters. In the upright position the jaw was less protruded, the uvula was elongated, the larynx more tilted and the tongue was positioned more to the front of the mouth than in the supine position. The findings presented are in agreement with several studies on gravitational effects in speech phonation, but contrast with the results of a previous study on professional singers of our group where only minor differences between upright and supine body posture were observed. The present study demonstrates that imaging of the vocal tract using weight-bearing MR imaging is a feasible tool for the study of sustained phonation in singing for vocally untrained subjects. PMID:25379885

Does the length of uvula affect the palatal implant outcome in the management of habitual snoring?

PubMed

Akpinar, Meltem Esen; Yigit, Ozgur; Kocak, Ismail; Altundag, Aytug

2011-05-01

To evaluate the impact of the uvular length on the efficacy of palatal implants in primary snoring. Prospective case series, tertiary hospital, snoring and respiratory sleep disorders center. Forty subjects with inserted palatal implants and diagnoses of primary snoring were included. All met the inclusion criteria of age >18 years, body mass index <30, apnea-hypopnea index <5, tonsil grade <3, soft-palate length >25 mm, and Friedman tongue position <3 following clinical, endoscopic, and polysomnographic evaluation. Epworth sleepiness scale (ESS) and the snoring-intensity visual analogue scale (VAS) were recorded before and 9 months after the implant. Four subjects with extruded implants were excluded; the remaining 36 subjects were divided into two groups, Group I and Group II, with uvular lengths of ≤15 mm and >15 mm, respectively. The study assessed and compared subjective outcome measures including the partner's satisfaction (PS), partner's reported improvement (PRI), 50% VAS and ESS reduction, and subjective success (SS) defined as 50% VAS reduction. The Student t test, χ(2) test, and logistic regression models were used for statistical evaluation. SS (50% VAS reduction), PS, PRI, and 50% ESS reduction were significantly higher in Group I (P < .001, P = .0257, P = .027, P < .001). The overall SS, PRI, PS, and 50% ESS reduction were 33%, 78%, 50%, and 50%, respectively. The uvular length was found to be the determinant factor of SS (P = .005; odds ratio = 0.75), PRI (P = .039; odds ratio = 0.83), and 50% ESS reduction (P = .038; odds ratio: 0.84) following implant insertion through stepwise logistic regression analysis. Excess uvular length (>15 mm) is an important anatomic feature decreasing the efficacy of palatal implants in snoring, and additional measures, such as uvulectomy, should be considered simultaneously for better outcomes (level 4). Copyright © 2011 The American Laryngological, Rhinological, and Otological Society, Inc.

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

PubMed

Meester, Josephina A N; Verstraeten, Aline; Schepers, Dorien; Alaerts, Maaike; Van Laer, Lut; Loeys, Bart L

2017-11-01

Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1 , coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. LDS is caused by mutations in TGBR1/2 , SMAD2/3 , or TGFB2/3 , all coding for components of the TGFβ-signaling pathway. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal disease. The latest EDS nosology distinguishes 13 subtypes. Many phenotypic features show overlap between the different subtypes, which makes the clinical diagnosis rather difficult and highlights the importance of molecular diagnostic confirmation.

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

PubMed Central

Meester, Josephina A. N.; Verstraeten, Aline; Schepers, Dorien; Alaerts, Maaike; Van Laer, Lut

2017-01-01

Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1, coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. LDS is caused by mutations in TGBR1/2, SMAD2/3, or TGFB2/3, all coding for components of the TGFβ-signaling pathway. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal disease. The latest EDS nosology distinguishes 13 subtypes. Many phenotypic features show overlap between the different subtypes, which makes the clinical diagnosis rather difficult and highlights the importance of molecular diagnostic confirmation. PMID:29270370

Vestibular signals in the parasolitary nucleus.

PubMed

Barmack, N H; Yakhnitsa, V

2000-06-01

Vestibular primary afferents project to secondary vestibular neurons located in the vestibular complex. Vestibular primary afferents also project to the uvula-nodulus of the cerebellum where they terminate on granule cells. In this report we describe the physiological properties of neurons in a "new" vestibular nucleus, the parasolitary nucleus (Psol). This nucleus consists of 2,300 GABAergic neurons that project onto the ipsilateral inferior olive (beta-nucleus and dorsomedial cell column) as well as the nucleus reticularis gigantocellularis. These olivary neurons are the exclusive source of vestibularly modulated climbing fiber inputs to the cerebellum. We recorded the activity of Psol neurons during natural vestibular stimulation in anesthetized rabbits. The rabbits were placed in a three-axis rate table at the center of a large sphere, permitting vestibular and optokinetic stimulation. We recorded from 74 neurons in the Psol and from 23 neurons in the regions bordering Psol. The activity of 72/74 Psol neurons and 4/23 non-Psol neurons was modulated by vestibular stimulation in either the pitch or roll planes but not the horizontal plane. Psol neurons responded in phase with ipsilateral side-down head position or velocity during sinusoidal stimulation. Approximately 80% of the recorded Psol neurons responded to static roll-tilt. The optimal response planes of evoked vestibular responses were inferred from measurement of null planes. Optimal response planes usually were aligned with the anatomical orientation of one of the two ipsilateral vertical semicircular canals. The frequency dependence of null plane measurements indicated a convergence of vestibular information from otoliths and semicircular canals. None of the recorded neurons evinced optokinetic sensitivity. These results are consistent with the view that Psol neurons provide the vestibular signals to the inferior olive that eventually reached the cerebellum in the form of modulated climbing fiber discharges. These signals provide information about spatial orientation about the longitudinal axis.

The adenoid: Its history and a cautionary tale.

PubMed

Ruben, Robert J

2017-06-01

The existence of the adenoid first appears to have been noted by Conrad Victor Schneider in 1661. James Yearsley reported in 1842 one case in which he improved hearing by removal of a mucus membrane from behind the uvula, which indicates some appreciation of a relationship of the nasopharynx to ear disease. Hans Wilhelm Meyer, in 1868, was the first to demonstrate the relationship of the adenoid to ear disease and to develop an effective, although somewhat difficult, surgical operation to remove the adenoid. Removal of the adenoid became rapidly accepted worldwide as a treatment for many morbidities, including otitis, speech problems, cognitive problems, and sleep apnea. Until the 1920s, adenoidectomy often was performed as a staged procedure and without general anesthesia. Early tools and techniques included use of the bare fingernail, a finger ring knife, a curette, and electrical desiccation. From the mid-1930s to the early 1960s, radiation therapy of the adenoid was in extensive use, both for children and in caring for army aviators and navy submarine crews during WWII. The effectiveness of surgical adenoidectomy for hearing loss led to a belief that radiation, which had been found to ablate lymphoid tissue, would be equally effective, and led to the wide-spread use of radiation. Ultimately, 500 thousand to 2.5 million children and adults were estimated to have been treated with radiation, and follow-up studies found increased risk for cancer. Furthermore, a follow-up study by Stacey R. Guild (1890-1966), published in 1950, on a very large sample of children who previously were reported to have had their hearing loss diminished through radiation, found that irradiation had produced no effect on high-tone loss. Thus, irradiation was both useless and harmful. Acceptance of authority, which can lurk within medical culture, led to the development of a tragically misguided management of adenoid disease. Laryngoscope, 127:S13-S28, 2017. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

Weight-bearing MR imaging as an option in the study of gravitational effects on the vocal tract of untrained subjects in singing phonation.

PubMed

Traser, Louisa; Burdumy, Michael; Richter, Bernhard; Vicari, Marco; Echternach, Matthias

2014-01-01

Magnetic Resonance Imaging (MRI) of subjects in a supine position can be used to evaluate the configuration of the vocal tract during phonation. However, studies of speech phonation have shown that gravity can affect vocal tract shape and bias measurements. This is one of the reasons that MRI studies of singing phonation have used professionally trained singers as subjects, because they are generally considered to be less affected by the supine body position and environmental distractions. A study of untrained singers might not only contribute to the understanding of intuitive singing function and aid the evaluation of potential hazards for vocal health, but also provide insights into the effect of the supine position on singers in general. In the present study, an open configuration 0.25 T MRI system with a rotatable examination bed was used to study the effect of body position in 20 vocally untrained subjects. The subjects were asked to sing sustained tones in both supine and upright body positions on different pitches and in different register conditions. Morphometric measurements were taken from the acquired images of a sagittal slice depicting the vocal tract. The analysis concerning the vocal tract configuration in the two body positions revealed differences in 5 out of 10 measured articulatory parameters. In the upright position the jaw was less protruded, the uvula was elongated, the larynx more tilted and the tongue was positioned more to the front of the mouth than in the supine position. The findings presented are in agreement with several studies on gravitational effects in speech phonation, but contrast with the results of a previous study on professional singers of our group where only minor differences between upright and supine body posture were observed. The present study demonstrates that imaging of the vocal tract using weight-bearing MR imaging is a feasible tool for the study of sustained phonation in singing for vocally untrained subjects.

Correlation of soft palate length with velum obstruction and severity of obstructive sleep apnea syndrome.

PubMed

Lim, Ju-Shin; Lee, Jae Woo; Han, Chun; Kwon, Jang-Woo

2018-06-01

Our aim in this study was to analyze whether soft palate length and velum obstruction during sleep are correlated and to determine the effects of related parameters on obstructive sleep apnea syndrome (OSAS) severity. We used computed tomography to measure soft palate length and drug-induced sleep endoscopy (DISE) to evaluate velum obstruction severity. Patients also underwent polysomnography (PSG) for evaluation of OSAS severity. A retrospective cohort of 67 patients with OSAS treated between May 1st, 2013 and July 31st, 2016 was analyzed. Each patient underwent DISE, PSG, and computed tomography. Using DISE, velum obstruction was categorized by the VOTE classification method. Using computed tomography, soft palate length was measured as the length of the posterior nasal spine to the uvula. Correlations of velum obstruction in DISE and PSG parameters (obstructive apnea, hypopnea, apnea hypopnea index (AHI), respiratory effort related arousal (RERA), respiratory disturbance index (RDI), baseline SaO 2 , and minimum SaO 2 ) with soft palate length were also analyzed. Among the 67 patients, the average PNS-U length was 39.90±4.19mm. Length was significantly different by age but not by other demographic characteristics such as sex, past history, or BMI. DISE revealed a statistically significant difference of velum obstruction degree; the cutoff value for PNS-U was 39.47mm. The PSG results, obstructive apnea, AHI, RDI, baseline SaO 2 , and minimum SaO 2 were correlated with PNS-U length, while other results such as hypopnea and RERA showed no correlation. Analysis of soft palate length showed that increased PNS-U length was associated with higher rates of obstructive apnea, AHI, and RDI as assessed by PSG. In contrast, lower baseline SaO 2 and minimum SaO 2 values were seen by PSG; more severe velum obstruction was seen by DISE. We propose that when a soft palate is suspected in OSAS, computed tomography measurement of soft palate length is a valid method for estimating the degree of velum obstruction and the severity of OSAS. Copyright © 2017 Elsevier B.V. All rights reserved.

The Use of Fluorescence Technology versus Visual and Tactile Examination in the Detection of Oral Lesions: A Pilot Study.

PubMed

Ayoub, Hadeel M; Newcomb, Tara L; McCombs, Gayle B; Bonnie, Marshall

2015-02-01

This study compared the effectiveness of the VELscope® Vx versus visual and tactile intraoral examination in detecting oral lesions in an adult, high risk population. The pilot study compared the intra oral findings between 2 examination types. The sample was comprised of 30 participants who were addicted to either cigarettes or a dual addiction (cigarettes plus hookah). High risk population was defined as males who were current cigarette smokers or had a dual addiction. Two trained and experienced licensed dental hygienists conducted all examinations. Throughout the study, all visual and tactile intraoral examinations were conducted first by one dental hygienist first, followed by the VELscope® Vx fluorescence examinations by the second dental hygienist. All subjects received an inspection of the lips, labial and buccal mucosa, floor of the mouth, dorsal, ventral and lateral sides of the tongue, hard and soft palate, and visual inspection of the oropharynx and uvula. Both evaluations took place in 1 visit in the Dental Hygiene Research Center at Old Dominion University and external sites. All participants received oral cancer screening information, recommendations, referrals for tobacco cessation programs and brochures on the 2 types of examinations conducted. Participants were considered high risk based on demographics (current smokers and mostly males). Neither visual and tactile intraoral examination nor the VELscope® Vx examination showed positive lesions. No lesions were detected; therefore, no referrals were made. Data indicated the duration of tobacco use was significantly higher in cigarette smokers (14.1 years) than dual addiction smokers (5 years) (p>0.005). The average numbers of cigarettes smoked per day were 13.5 compared to 14.2 cigarettes for dual addiction smokers. Results from this study suggest the visual and tactile intraoral examination produced comparative results to the VELscope® Vx examination. Findings from this study support that the VELscope® Vx is still considered an adjunct technology and cannot be used exclusively for oral cancer screening. Copyright © 2015 The American Dental Hygienists’ Association.

Is Vestibular Self-Motion Perception Controlled by the Velocity Storage? Insights from Patients with Chronic Degeneration of the Vestibulo-Cerebellum

PubMed Central

Bertolini, Giovanni; Ramat, Stefano; Bockisch, Christopher J.; Marti, Sarah; Straumann, Dominik; Palla, Antonella

2012-01-01

Background The rotational vestibulo-ocular reflex (rVOR) generates compensatory eye movements in response to rotational head accelerations. The velocity-storage mechanism (VSM), which is controlled by the vestibulo-cerebellar nodulus and uvula, determines the rVOR time constant. In healthy subjects, it has been suggested that self-motion perception in response to earth-vertical axis rotations depends on the VSM in a similar way as reflexive eye movements. We aimed at further investigating this hypothesis and speculated that if the rVOR and rotational self-motion perception share a common VSM, alteration in the latter, such as those occurring after a loss of the regulatory control by vestibulo-cerebellar structures, would result in similar reflexive and perceptual response changes. We therefore set out to explore both responses in patients with vestibulo-cerebellar degeneration. Methodology/Principal Findings Reflexive eye movements and perceived rotational velocity were simultaneously recorded in 14 patients with chronic vestibulo-cerebellar degeneration (28–81yrs) and 12 age-matched healthy subjects (30–72yrs) after the sudden deceleration (90°/s2) from constant-velocity (90°/s) rotations about the earth-vertical yaw and pitch axes. rVOR and perceived rotational velocity data were analyzed using a two-exponential model with a direct pathway, representing semicircular canal activity, and an indirect pathway, implementing the VSM. We found that VSM time constants of rVOR and perceived rotational velocity co-varied in cerebellar patients and in healthy controls (Pearson correlation coefficient for yaw 0.95; for pitch 0.93, p<0.01). When constraining model parameters to use the same VSM time constant for rVOR and perceived rotational velocity, moreover, no significant deterioration of the quality of fit was found for both populations (variance-accounted-for >0.8). Conclusions/Significance Our results confirm that self-motion perception in response to rotational velocity-steps may be controlled by the same velocity storage network that controls reflexive eye movements and that no additional, e.g. cortical, mechanisms are required to explain perceptual dynamics. PMID:22719833

Development of a Novel Ultrasound-guided Peritonsillar Abscess Model for Simulation Training.

PubMed

Ng, Vivienne; Plitt, Jennifer; Biffar, David

2018-01-01

Peritonsillar abscess (PTA) is the most common deep space infection of the head and neck presenting to emergency departments.1 No commercial PTA task trainer exists for simulation training. Thus, resident physicians often perform their first PTA needle aspiration in the clinical setting, knowing that carotid artery puncture and hemorrhage are serious and devastating complications. While several low-fidelity PTA task trainers have been previously described, none allow for ultrasound image acquisition.6-9 We sought to create a cost-effective and realistic task trainer that allows trainees to acquire both diagnostic ultrasound and needle aspiration skills while draining a peritonsillar abscess. We built the task trainer with low-cost, replaceable, and easily cleanable materials. A damaged airway headskin was repurposed to build the model. A mesh wire cylinder attached to a wooden base was fashioned to provide infrastructure. PTAs were simulated with a water and lotion solution inside a water balloon that was glued to the bottom of a paper cup. The balloon was fully submerged with ordnance gelatin to facilitate ultrasound image acquisition, and an asymmetric soft palate and deviated uvula were painted on top after setting. PTA cups were replaced after use. We spent eight hours constructing three task trainers and used 50 PTA cups for a total cost <$110. Forty-six emergency medicine (EM) residents performed PTA needle aspirations using the task trainers and were asked to rate ultrasound image realism, task trainer realism, and trainer ease of use on a five-point visual analog scale, with five being very realistic and easy. Sixteen of 46 (35%) residents completed the survey and reported that ultrasound images were representative of real PTAs (mean 3.41). They found the model realistic (mean 3.73) and easy to use (mean 4.08). Residents rated their comfort with the drainage procedure as 2.07 before and 3.64 after practicing on the trainer. This low-cost, easy-to-construct simulator allows for ultrasound image acquisition while performing PTA needle aspirations and is the first reported of its kind. Educators from EM and otolaryngology can use this model to educate inexperienced trainees, thus ultimately improving patient safety in the clinical setting.

Effects of morphine on respiratory load detection, load magnitude perception and tactile sensation in obstructive sleep apnea.

PubMed

Tomazini Martins, Rodrigo; Carberry, Jayne C; Gandevia, Simon C; Butler, Jane E; Eckert, Danny J

2018-04-26

Pharyngeal and respiratory sensation is impaired in obstructive sleep apnea (OSA). Opioids may further diminish respiratory sensation. Thus, protective pharyngeal neuromuscular and arousal responses to airway occlusion that rely on respiratory sensation could be impaired with opioids to worsen OSA severity. However, little is known about the effects of opioids on upper airway and respiratory sensation in people with OSA. This study was designed to determine the effects of 40mg of MS-Contin on tactile sensation, respiratory load detection and respiratory magnitude perception in people with OSA during wakefulness. A double-blind, randomized, cross-over design (1 week wash-out) was used. 21 men with untreated OSA (apnea/hypopnea index=26{plus minus}17events/h) recruited from a larger clinical study completed the protocol. Tactile sensation using von Frey filaments on the back of the hand, internal mucosa of the cheek, uvula and posterior pharyngeal wall were not different between placebo and morphine (e.g. posterior wall=0.16[0.16,0.4]vs. 0.4[0.14,1.8]g, p=0.261). Similarly, compared to placebo, morphine did not alter respiratory load detection thresholds (nadir mask pressure detected=-2.05[-3.37,-1.55] vs. -2.19[-3.36,-1.41]cmH 2 O, p=0.767), or respiratory load magnitude perception (mean Borg scores during a 5 resistive load [range: 5-126cmH 2 O/L/s] protocol=4.5{plus minus}1.6 vs. 4.2{plus minus}1.2, p=0.347) but did reduce minute ventilation during quiet breathing (11.4{plus minus}3.3 vs. 10.7{plus minus}2.6L/min, p<0.01). These findings indicate that 40mg of MS-Contin does not systematically impair tactile or respiratory sensation in men with mild to moderate, untreated, OSA. This suggests that altered respiratory sensation to acute mechanical stimuli is not likely to be a mechanism that contributes to worsening of OSA with a moderate dose of morphine.

The nucleus of the optic tract. Its function in gaze stabilization and control of visual-vestibular interaction

NASA Technical Reports Server (NTRS)

Cohen, B.; Reisine, H.; Yokota, J. I.; Raphan, T.

1992-01-01

1. Electrical stimulation of the nucleus of the optic tract (NOT) induced nystagmus and after-nystagmus with ipsilateral slow phases. The velocity characteristics of the nystagmus were similar to those of the slow component of optokinetic nystagmus (OKN) and to optokinetic after-nystagmus (OKAN), both of which are produced by velocity storage in the vestibular system. When NOT was destroyed, these components disappeared. This indicates that velocity storage is activated from the visual system through NOT. 2. Velocity storage produces compensatory eye-in-head and head-on-body movements through the vestibular system. The association of NOT with velocity storage implies that NOT helps stabilize gaze in space during both passive motion and active locomotion in light with an angular component. It has been suggested that "vestibular-only" neurons in the vestibular nuclei play an important role in generation of velocity storage. Similarities between the rise and fall times of eye velocity during OKN and OKAN to firing rates of vestibular-only neurons suggest that these cells may receive their visual input through NOT. 3. One NOT was injected with muscimol, a GABAA agonist. Ipsilateral OKN and OKAN were lost, suggesting that GABA, which is an inhibitory transmitter in NOT, acts on projection pathways to the brain stem. A striking finding was that visual suppression and habituation of contralateral slow phases of vestibular nystagmus were also abolished after muscimol injection. The latter implies that NOT plays an important role in producing visual suppression of the VOR and habituating its time constant. 4. Habituation is lost after nodulus and uvula lesions and visual suppression after lesions of the flocculus and paraflocculus. We postulate that the disappearance of vestibular habituation and of visual suppression of vestibular responses after muscimol injections was due to dysfacilitation of the prominent NOT-inferior olive pathway, inactivating climbing fibers from the dorsal cap to nodulouvular and flocculoparafloccular Purkinje cells. The prompt loss of habituation when NOT was inactivated, and its return when the GABAergic inhibition dissipated, suggests that although VOR habituation can be relatively permanent, it must be maintained continuously by activity of the vestibulocerebellum.

Vesicular glutamate transporters VGLUT1 and VGLUT2 define two subsets of unipolar brush cells in organotypic cultures of mouse vestibulocerebellum.

PubMed

Nunzi, M G; Russo, M; Mugnaini, E

2003-01-01

Different isoforms of a vesicular glutamate transporter (VGLUT) mediate glutamate uptake into synaptic vesicles of excitatory neurons. There is agreement that the VGLUTs are differentially expressed in brain, and that two isoforms, VGLUT1 and VGLUT2, are localized to excitatory axon terminals in the cerebellar cortex. While granule cells express solely VGLUT1, there is no report about the VGLUT(s) of the unipolar brush cell (UBC), the second type of glutamatergic interneuron residing in the cerebellar granular layer. In the mouse, UBCs are particularly numerous in the uvula (lobule IX) and nodulus (lobule X). These folia contain two distinct subsets of UBCs: one kind expresses the calcium-binding protein calretinin (CR), and the other kind expresses the metabotropic glutamate receptor (mGluR) 1alpha. UBCs give rise to an extensive system of intrinsic mossy fibers (MF), whose terminals innervate granule cells and other UBCs, altogether similar to those formed by the extrinsic MFs. The presence of both extrinsic and intrinsic MFs in the vestibulocerebellum makes it difficult to determine which type of VGLUT is contained in MFs formed by the UBC axons. Hence, the nodulus was isolated from sagittal cerebellar slices from postnatal day 10 mice, and cultured for 15-20 days in vitro. Double immunofluorescence and confocal microscopy showed that mossy terminals of CR-positive (CR(+)) UBCs were immunoreactive for VGLUT1 and VGLUT2, while mossy terminals of mGluR1alpha-positive (mGluR1alpha(+)) UBCs were provided with VGLUT1 only. Moreover, CR(+) dendritic brushes were contacted by mossy terminals provided with both transporters, while mGluR1alpha(+) dendritic brushes were contacted by mossy terminals immunopositive for VGLUT1 and immunonegative for VGLUT2. These data indicate that the two UBC subsets use different modalities of vesicular glutamate storage and form separate networks. We consider it possible that expressions of CR with VGLUT1/VGLUT2 and mGluR1alpha(+) with VGLUT1 in the two subsets of vestibulocerebellar UBCs are determined by specific vestibular inputs, carried by groups of primary and/or secondary vestibular afferents.

Gender differences in brain regional homogeneity of healthy subjects after normal sleep and after sleep deprivation: a resting-state fMRI study.

PubMed

Dai, Xi-Jian; Gong, Hong-Han; Wang, Yi-Xiang; Zhou, Fu-Qing; Min, You-Jiang; Zhao, Feng; Wang, Si-Yong; Liu, Bi-Xia; Xiao, Xiang-Zuo

2012-06-01

To explore the gender differences of brain regional homogeneity (ReHo) in healthy subjects during the resting-state, after normal sleep, and after sleep deprivation (SD) using functional magnetic resonance imaging (fMRI) and the ReHo method. Sixteen healthy subjects (eight males and eight females) each underwent the resting-state fMRI exams twice, i.e., once after normal sleep and again after 24h's SD. According to the gender and sleep, 16 subjects were all measured twice and divided into four groups: the male control group (MC), female control group (FC), male SD group (MSD), and female SD group (FSD). The ReHo method was used to calculate and analyze the data, SPM5 software was used to perform a two-sample T-test and a two-pair T-test with a P value <0.001, and cluster volume ≥ 270 mm(3) was used to determine statistical significance. Compared with the MC, the MSD showed significantly higher ReHo in the right paracentral lobule (BA3/6), but in no obviously lower regions. Compared with the FC, the FSD showed significantly higher ReHo in bilateral parietal lobes (BA2/3), bilateral vision-related regions of occipital lobes (BA17/18/19), right frontal lobe (BA4/6), and lower ReHo in the right frontal lobe. Compared with the FC, the MC showed significantly higher ReHo in the left occipital lobe (BA18/19), and left temporal lobe (BA21), left frontal lobe, and lower ReHo in the right insula and in the left parietal lobe. Compared with the FSD, the MSD showed significantly higher ReHo in the left cerebellum posterior lobe (uvula/declive of vermis), left parietal lobe, and bilateral frontal lobes, and lower ReHo in the right occipital lobe (BA17) and right frontal lobe (BA4). The differences of brain activity in the resting state can be widely found not only between the control and SD group in a same gender group, but also between the male group and female group. Thus, we should take the gender differences into consideration in future fMRI studies, especially the treatment of brain-related diseases (e.g., depression). Copyright © 2012 Elsevier B.V. All rights reserved.

Cerebellar nodulectomy impairs spatial memory of vestibular and optokinetic stimulation in rabbits.

PubMed

Barmack, N H; Errico, P; Ferraresi, A; Fushiki, H; Pettorossi, V E; Yakhnitsa, V

2002-02-01

Natural vestibular and optokinetic stimulation were used to investigate the possible role of the cerebellar nodulus in the regulation and modification of reflexive eye movements in rabbits. The nodulus and folium 9d of the uvula were destroyed by surgical aspiration. Before and after nodulectomy the vertical and horizontal vestibuloocular reflexes (VVOR, HVOR) were measured during sinusoidal vestibular stimulation about the longitudinal (roll) and vertical (yaw) axes. Although the gain of the HVOR (G(HVOR) = peak eye movement velocity/peak head velocity) was not affected by the nodulectomy, the gain of the VVOR (G(VVOR)) was reduced. The gains of the vertical and horizontal optokinetic reflexes (G(VOKR), G(HOKR)) were measured during monocular, sinusoidal optokinetic stimulation (OKS) about the longitudinal and vertical axes. Following nodulectomy, there was no reduction in G(VOKR) or G(HOKR). Long-term binocular OKS was used to generate optokinetic afternystagmus, OKAN II, that lasts for hours. After OKAN II was induced, rabbits were subjected to static pitch and roll, to determine how the plane and velocity of OKAN II is influenced by a changing vestibular environment. During static pitch, OKAN II slow phase remained aligned with earth-horizontal. This was true for normal and nodulectomized rabbits. During static roll, OKAN II remained aligned with earth-horizontal in normal rabbits. During static roll in nodulectomized rabbits, OKAN II slow phase developed a centripetal vertical drift. We examined the suppression and recovery of G(VVOR) following exposure to conflicting vertical OKS for 10-30 min. This vestibular-optokinetic conflict reduced G(VVOR) in both normal and nodulectomized rabbits. The time course of recovery of G(VVOR) after conflicting OKS was the same before and after nodulectomy. In normal rabbits, the head pitch angle, at which peak OKAN II velocity occurred, corresponded to the head pitch angle maintained during long-term OKS. If the head was maintained in a "pitched-up" or "pitched-down" orientation during long-term OKS, the subsequently measured OKAN II peak velocity occurred at the same orientation. This was not true for nodulectomized rabbits, who had OKAN II peak velocities at head pitch angles independent of those maintained during long-term OKS. We conclude that the nodulus participates in the regulation of compensatory reflexive movements. The nodulus also influences "remembered" head position in space derived from previous optokinetic and vestibular stimulation.

The relation of motion sickness to the spatial-temporal properties of velocity storage

NASA Technical Reports Server (NTRS)

Dai, Mingjia; Kunin, Mikhail; Raphan, Theodore; Cohen, Bernard; Young, L. R. (Principal Investigator)

2003-01-01

Tilting the head in roll to or from the upright while rotating at a constant velocity (roll while rotating, RWR) alters the position of the semicircular canals relative to the axis of rotation. This produces vertical and horizontal nystagmus, disorientation, vertigo, and nausea. With recurrent exposure, subjects habituate and can make more head movements before experiencing overpowering motion sickness. We questioned whether promethazine lessened the vertigo or delayed the habituation, whether habituation of the vertigo was related to the central vestibular time constant, i.e., to the time constant of velocity storage, and whether the severity of the motion sickness was related to deviation of the axis of eye velocity from gravity. Sixteen subjects received promethazine and placebo in a double-blind, crossover study in two consecutive 4-day test series 1 month apart, termed series I and II. Horizontal and vertical eye movements were recorded with video-oculography while subjects performed roll head movements of approx. 45 degrees over 2 s to and from the upright position while being rotated at 138 degrees /s around a vertical axis. Motion sickness was scaled from 1 (no sickness) to an endpoint of 20, at which time the subject was too sick to continue or was about to vomit. Habituation was determined by the number of head movements that subjects made before reaching the maximum motion sickness score of 20. Head movements increased steadily in each session with repeated testing, and there was no difference between the number of head movements made by the promethazine and placebo groups. Horizontal and vertical angular vestibulo-ocular reflex (aVOR) time constants declined in each test, with the declines being closely correlated to the increase in the number of head movements. The strength of vertiginous sensation was associated with the amount of deviation of the axis of eye velocity from gravity; the larger the deviation of the eye velocity axis from gravity, the more severe the motion sickness. Thus, promethazine neither reduced the nausea associated with RWR, nor retarded or hastened habituation. The inverse relationship between the aVOR time constants and number of head movements to motion sickness, and the association of the severity of motion sickness with the extent, strength, and time of deviation of eye velocity from gravity supports the postulate that the spatiotemporal properties of velocity storage, which are processed between the nodulus and uvula of the vestibulocerebellum and the vestibular nuclei, are likely to represent the source of the conflict responsible for producing motion sickness.

Habituation and adaptation of the vestibuloocular reflex: a model of differential control by the vestibulocerebellum

NASA Technical Reports Server (NTRS)

Cohen, H.; Cohen, B.; Raphan, T.; Waespe, W.

1992-01-01

We habituated the dominant time constant of the horizontal vestibuloocular reflex (VOR) of rhesus and cynomolgus monkeys by repeated testing with steps of velocity about a vertical axis and adapted the gain of the VOR by altering visual input with magnifying and reducing lenses. After baseline values were established, the nodulus and ventral uvula of the vestibulocerebellum were ablated in two monkeys, and the effects of nodulouvulectomy and flocculectomy on VOR gain adaptation and habituation were compared. The VOR time constant decreased with repeated testing, rapidly at first and more slowly thereafter. The gain of the VOR was unaffected. Massed trials were more effective than distributed trials in producing habituation. Regardless of the schedule of testing, the VOR time constant never fell below the time constant of the semicircular canals (approximately 5 s). This finding indicates that only the slow component of the vestibular response, the component produced by velocity storage, was habituated. In agreement with this, the time constant of optokinetic after-nystagmus (OKAN) was habituated concurrently with the VOR. Average values for VOR habituation were obtained on a per session basis for six animals. The VOR gain was adapted by natural head movements in partially habituated monkeys while they wore x 2.2 magnifying or x 0.5 reducing lenses. Adaptation occurred rapidly and reached about +/- 30%, similar to values obtained using forced rotation. VOR gain adaptation did not cause additional habituation of the time constant. When the VOR gain was reduced in animals with a long VOR time constant, there were overshoots in eye velocity that peaked at about 6-8 s after the onset or end of constant-velocity rotation. These overshoots occurred at times when the velocity storage integrator would have been maximally activated by semicircular canal input. Since the activity generated in the canals is not altered by visual adaptation, this finding indicates that the gain element that controls rapid changes in eye velocity in the VOR is separate from that which couples afferent input to velocity storage. Nodulouvulectomy caused a prompt and permanent loss of habituation, returning VOR time constants to initial values. VOR gain adaptation, which is lost after flocculectomy, was unaffected by nodulouvulectomy. Flocculectomy did not alter habituation of the VOR or of OKAN. Using a simplified model of the VOR, the decrease in the duration of vestibular nystagmus due to habituation was related to a decrement in the dominant time constant of the velocity storage integrator (1/h0).(ABSTRACT TRUNCATED AT 400 WORDS).

Pycnodysostosis at otorhinolaryngology.

PubMed

Baglam, Tekin; Binnetoglu, Adem; Fatih Topuz, Muhammet; Baş Ikizoglu, Nilay; Ersu, Refika; Turan, Serap; Sarı, Murat

2017-04-01

Pycnodysostosis is a rare autosomal, recessive, skeletal dysplasia caused by a mutation in the cathepsin k gene. Pycnodysostosis is characterized by short stature, characteristic facial appearance (delayed closure of fontanelles and cranial sutures, mandibular hypoplasia and angle disorder, blue sclera), and acroosteolysis of the distal phalanges. Our aim was to describe the otorhinolaryngologic findings, differential diagnoses, various treatment options, and followup in eight cases of pycnodysostosis. This retrospective clinical study used data from eight patients diagnosed with pycnodysostosis by a single pediatric endocrinologist primarily based on clinical and radiographic findings. All patients were referred to the otorhinolaryngology outpatient clinic by the pediatric endocrinology unit of the Marmara University between February 2013 and March 2015. Detailed medical histories were obtained in all cases and otorhinolaryngologic physical examination, blood assays, electrocardiogram, lateral skull X-rays, chest radiograph, cephalometric investigations, tympanograms, and audiograms were also carried out. Sleep videos of patients were recorded and those with upper airway problems were evaluated for sleep apnea by polysomnography. Informed consent form was obtained from the parents of all patients. Eight patients (7 females and 1 male) displaying proportionate dwarfism were included in the study. They had a mean age of 14.7 years (range: 13-16 y), the mean height of 141.3 cm (range 132-155 cm), and mean weight of 44.4 kg (range: 39.6-49.3 kg). All patients had facial dysmorphism with frontal bossing and the hands and feet had short digits with overlying cutaneous wrinkles that tapered off with large overriding nails. Midfacial hypoplasia and malocclusion were observed in seven of the eight patients (87.5%), four (50%) had micrognathia, and five (62.5%) had proptosis. Tympanograms and audiograms of all patients were type A and normal, and the mean of the pure tone audiogram was 13.3 dB (range: 10-16 dB). All patients had a narrow and grooved palate with disturbed dentition; two of them (25%) had mild markedness of the tongue base, five (62.5%) had grade 3 and three (37.5%) had grade 2 tonsillar hypertrophy, and five (62.5%) had adenoid hypertrophy. One patient (12.5%) had grade 3 Mallampati, four (50%) showed grade 2 Mallampati while three (37.5%) patients displayed grade 1 Mallampati score. Further, while six (75%) patients had no uvular pathology, one (12.5%) patient presented with uvular elongation and another patient had a bifid uvula. Cephalometric measurements such as PAS-UP (mean 5.67 mm; range: 5.0-7.6 mm) and PAS-TP (mean 9.61 mm; range: 8.5-12.2 mm) were lower than that of normal subjects. Video recordings showed that six of the eight patients (75%) had respiratory distress and four (50%) had sleep apnea. Polysomnography in these patients with sleep apnea showed that two had mild OSA (AHI: 18.2 and 20.1 events/hour) and two had severe OSA (AHI: 53.4 and 62.8 events/hour). For upper airway problems, an adenotonsillectomy was performed in two (25%) patients while two others required an adenoidectomy. Positive pressure ventilation was recommended in two patients with persistent sleep apnea after adeno/adenotonsillectomy. However, because of the parental objections, the follow-up polysomnographs could not be obtained. Pycnodysostosis is a very rare form of bone dysplasia. Otorhinolaryngologically, proper follow-up of these patients and appropriate treatment of upper airway problems are important to achieve an acceptable quality of life. Adeno/adenotonsillectomy and positive pressure ventilation, used as conservative approaches in treating upper airway problems, are effective and could be used instead of an aggressive surgery such as tracheotomy or maxillomandibular advancement. This study, to the best of our knowledge, is the largest ENT case series on pycnodysostosis. Copyright © 2017 Elsevier B.V. All rights reserved.

[Dysphagia or dysphagias during neuroleptic medication?].

PubMed

Chaumartin, N; Monville, M; Lachaux, B

2012-09-01

Dysphagia is a common symptom in the general population, and even more among psychiatric patients, but rarely seen as a sign of seriousness. It is a cause of death by suffocation, and more or less serious complications, and therefore should be diagnosed and treated. Among psychiatric patients, organic and iatrogenic aetiologies, as well as risk factors are identified, which worsen this symptom when associated. It is now accepted that neuroleptics can aggravate or cause dysphagia. They act by several pathophysiological ways on the different components of swallowing, which can be identified by dynamic tests in the upper aerodigestive tract endoscopy. This symptom is rarely reported by patients and often underestimated by caregivers. The frequency of swallowing disorders is not known. Dysphagia is a cause of complications and an increase in mortality rates among psychiatric patients. It has also been found that the average number of psychotropic drugs in patients who die by cafe coronary is significantly higher than in other patients. There are several phases in swallowing: oral, pharyngeal, and oesophageal. Swallowing disorders can affect each of these phases, or several at once: (a) Extrapyramidal syndrome: dysphagia is present in drug induced Parkinson's syndromes, but prevalence is not known. It is most often associated with another symptom of the extrapyramidal syndrome, but can also be isolated, making its diagnosis more difficult. Dysphagia is due to a slowing down in the oral and pharyngeal reflex, called bradykinesia; (b) Tardive dyskinesia: the oro-pharyngo-oesophageal dyskinesia is the most common type. Oesophageal dyskinesia causes asynchronous and random movements of the oesophagus, resulting in dysphagia. It appears mostly beyond 3 months of treatment with neuroleptics; (c) Acute laryngeal or oesophageal dystonia, associated or not with orofacial dystonia, is characterised by an impairment in the oesophageal muscle contraction and a hypertonia of the upper sphincter of the oesophagus; (d) Polyphagia or "binge eating", is frequent in psychotic patients; (e) Finally, there are risk factors for dysphagia: xerostomia, poor dental status, advanced age, neurological diseases, polypharmacy, sedative drugs, CNS depression, etc., which worsen the symptom. Mr J., aged 28, with no psychiatric history, is admitted to the Unit for Difficult Patients in Villejuif for behavioural disorder with homicide on the street. The patient was restrained by passers-by and suffers a head injury and a fracture of the transverse process of L1 vertebra. A cranial CT scan is performed in the emergency room, it is normal. The patient is not known to psychiatric services, and has never taken neuroleptics. Mr J. is homeless, known in his neighbourhood for "his noisy delirium on the street and repeated alcohol abuse." After being arrested by the police in this context, a first psychiatric examination is conducted. The medical certificate states that his condition is not compatible with custody. Mr J. remains mute; he has stereotyped gestures and strange attitudes. No delusion is verbalized. He receives vials of loxapine 50mg causing sedation. At his arrival in the department, Mr J. has the same clinical picture, with a rigid and inexpressive face, reluctance, major unconformity, poor speech. The search for drugs in urine is positive for cannabis. The diagnosis of schizophrenia is rapidly raised, motivating further prescription of loxapine 300 mg daily in combination with clonazepam 6 mg daily. From the earliest days, dysphagia to solids with choking and regurgitation is noted, aggravated by the increase of loxapine treatment of 450 mg / day to 700 mg / day, 7 days after admission. A physical examination is performed before the worsening of dysphagia, it is normal, and in particular, reveals no extrapyramidal syndrome. An anti-cholinergic corrector is introduced, without clinical improvement. A new physical examination is performed; it is normal except for sedation and a slight deviation of the uvula. Upper gastrointestinal endoscopy shows no anatomical lesion. No functional assessment of swallowing is done however. At this stage, the suspicion of neuroleptic induced dysphagia appears to be the most likely hypothesis. Treatment with loxapine is then stopped, resulting in a very rapid clinical improvement. Aripiprazole 15 mg / d is introduced. Dysphagia does not reoccur. Loxapine is an atypical antipsychotic, with a lower risk of neurological side effects than first generation of antipsychotics. These side effects are however numerous and from diverse pathophysiological mechanisms. Loxapine is an antagonist of dopamine and serotonin which is involved in the regulation of several neurotransmitters, explaining the multiple mechanisms involved in the onset of dysphagia: first, blocking dopamine D2 receptors in the striatum, causing motor side-effects of central origin, in addition to peripheral effects of the molecule, which impairs swallowing. In principle, the antagonist activity on serotonin 5-HT2A receptors increases dopaminergic activity in the striatum, reducing the risk of extrapyramidal symptoms and tardive dyskinesia, without avoiding them completely. In addition to these mechanisms, cholinergic blockade reduces oesophageal mobility and pharyngeal reflex. Moreover, the antihistamine, anti-cholinergic and adrenergic receptor blocking alpha-1 can cause sedation, which aggravates the symptom. Finally, the depression of the bulbar centres reduces the swallowing reflex and gag reflex altering the intake of food. The swallowing disorder caused by neuroleptics may occur regardless of the molecule or drug class to which it belongs. It can be found even in the absence of any other neurological signs. It is important to search for the aetiological diagnosis for treatment. At the crossroads of several specialties, swallowing disorders are difficult to diagnose and treat. They are frequently underestimated, partly because patients rarely complain. In our case report, the diagnosis was ascertained by the removal of the medication, without functional evidence, probably by a lack of collaboration between the physician and the endoscopist who had not performed any dynamic investigation of swallowing. This case illustrates the importance of knowing the different mechanisms underlying dysphagia in psychiatric patients, and good communication with gastroenterologists to establish a precise diagnosis of the disorder, and adapt the therapy. Copyright © 2011 L’Encéphale, Paris. Published by Elsevier Masson SAS. All rights reserved.