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A 42-year-old patient was admitted with slowly progressive gait disturbance over a period of ten years. The patient complained of regurgitation and fatigue since childhood. Clinical examination revealed nasal voice, distal amyotrophic motor deficit with pyramidal signs, mild intellectual disability, increased skin pigmentation, and reduced body weight (BMI: 16.6 kg/m2). Schirmer test revealed bilateral alacrima and barium swallow confirmed achalasia cardia. Cortisol level was undetectable, while adrenocorticotrophic hormone was elevated.

A 31-year-old woman presented with a nasal voice, dysarthria, and upper limb weakness during her first pregnancy. Soon after delivery of her first baby, her symptoms disappeared. At the age of 34 years, during her second pregnancy, her nasal voice re-appeared. After delivery of the second baby, her nasal voice worsened, and bilateral eyelid ptosis and easy fatigability were also evident. She was referred to our hospital. Because of her myasthenic symptoms and anti-muscle-specific tyrosine kinase (MuSK) antibody (Ab)-positive status, she was diagnosed as having myasthenia gravis (MG). Her symptoms were worse than those in her first pregnancy. She was treated with oral steroid and double filtration plasmapheresis. After initiation of treatment, her myasthenic symptoms improved completely. In addition, her baby developed transient neonatal MG (TNMG) on the fourth day after birth and then gradually recovered over 30 days. It should be noted that symptoms of patients with anti-MuSK Ab-positive MG (MuSK-MG) can deteriorate during pregnancy, and the babies delivered of patients with MuSK-MG have a high probability of developing TNMG.

Miller Fisher Syndrome (MFS) is a rare variant of Guillain-Barré Syndrome (GBS). It is largely a clinical diagnosis based on the classical features of ataxia, areflexia, and opthalmoplegia. Its clinical evolution is most often favorable. However, other neurological signs and symptoms may also be present. Supportive laboratory studies (positivity of antibodies, CSF albumin-cytological dissociation and nerve conduction studies) are useful especially in uncommon presentations. We report a case of a 74-year-old patient who exhibited dysphonia and difficulty to swallowing previously to the classic triad of ataxia, areflexia, and opthalmoplegia, characteristic of MFS. CSF analysis demonstrates an albumin-cytological dissociation but anti-GQ1b antibody were negative. The patient has spontaneously and completely recovered after several weeks.

Background: Cleft palate leads to oroantral communication and also malformations of the palate and agenese of teeth adjacent to the defect. Abnormal defect closure was done by replacing the hard, soft tissues and missing teeth using an intraoral maxillofacial prosthesis called obturator. Purpose: Assess the use of prosthetic rehabilitation using frame obturator combination with acrylic resin on patient’s palatum defect to restore esthetic, speech, swallowing, mastication functions. Case: 23 years old male patient with chief complaint palatum defect that cause nasal voice. Intraoral examination revealed a large palate defect in the right of palatum durum segment, also defect on left labial gingiva, and missing teeth in 13, 15, 16, 21, 22, 23, 24, 25, 26, 35, 36, 45, 46. Case Management: Obturator was made to cover defect of palate and replace missing teeth. Impression was taken with hydrocoloid irreversible and gauze that cover the defect to avoid alginate entering nasal cavity. Insertion of obturator showed cleft palate was covered well by frame combination with acrylic resin base. The retention, stabilization and occlusion were good, nasal voice was reduced, defect on left labial gingiva were covered by labial wing. Discussion: Patient was satisfed because nasal voice was reduced, estethic, mastication and swallowing function were restored, also. Patient can clean and use obturator easily. Conclusion: Frame obturator in patient’s palate defect can reduce nasal voice, restore esthetic, swallowing and mastication functions.

A 12-year-old girl presented with headache, nasal voice, and anosmia. Magnetic resonance imaging demonstrated a 11 × 9 × 8-cm tumor extending from the nasal cavity to the frontal lobes. Histological analysis was consistent with transitional meningioma WHO grade I. As far as we know, this is the first reported case of a giant olfactory groove meningioma invading the nasal cavity through the anterior cranial base. Complete surgical removal was accomplished with excellent result via a staged endoscopic and transcranial approach. A microvascularized vastus laterallis flap was used for reconstruction. Surgical options and technical details in the management of this lesion are reviewed.

A 6-year-old girl with acute pharyngitis presented with complaints of hypernasal speech and double vision. Examination revealed a bilateral abduction deficit associated with soft palate palsy causing rhinolalia aperta. Cerebrospinal fluid analysis showed albuminocytologic dissociation. Her sister also suffered from the same disorder, albeit milder, 1 month before. After treatment with intravenous immunoglobulin and steroids, the patient made a full recovery. After the case report, a brief discussion of Miller Fisher syndrome, Guillan–Barré syndrome, and their variants is made. This case highlights that bilateral sixth nerve palsy and rhinolalia aperta in the absence of ataxia should still raise suspicion for these autoimmune conditions that may rarely and atypically present in siblings.

Congenital heart defects are the most common birth defects and the leading cause of mortality in the first year of life. It is well known that the 22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans and that congenial heart diseases (CHDs) are one of the most common phenotypic manifestations. However, it should be noted that the 22q11 deletion was also found in a significant number of patients with isolated CHD. The 22q11DS phenotype may include cardiovascular anomalies, palatal abnormalities, nasal voice, immune deficiency, endocrine dysfunctions, a varying degree of cognitive deficits and intellectual disabilities, velopharyngeal insufficiency, and characteristic craniofacial dysmorphism. This condition affects about 1 in 4,000 live births, making 22q11DS the most common microdeletion syndrome in humans. Here we describe the cases of three children who were referred to the clinical hospital center with the diagnosis of CHD, but with no direct signs of 22q11DS. Investigation of familial data led us to suspect that the mothers could be carriers of 22q11DS. The multiplex ligation-dependent probe amplification (MLPA) testing confirmed that the patients and mothers exhibited 3 Mb 22q11 deletions, which justified the clinical signs in the mothers and the CHD in children. In the presence of a few characteristics that are common of a spectrum of some known syndromes, a familial examination can provide clues to a definitive diagnosis, as well as to the prevention of diseases and genetic counseling of these patients.

Some patients with a patulous Eustachian tube (PET) complain of a nasal voice. This feature is often dismissed without further investigation. As such, there are only a few reports on this important symptom and scant studies have been conducted on a sufficiently large number of cases with PET. Therefore, this study was undertaken to investigate the characteristics of patients having a nasal voice and to examine whether this symptom can be an indication of the severity of PET.Retrospective.Tertiary referral center.A retrospective survey of medical records in Sen-En Rifu Hospital identified 85 patients (40 men and 45 women) with PET between 2013 and 2016. Diagnosis of definite PET was based on the Proposal on Diagnostic Criteria of PET announced by the Otological Society of Japan (2017). The questionnaire inquired about the presence of a nasal voice and it was distributed to each patient at the first visit to the clinic. If a patient marked "yes" for the presence of nasal voice, he/she was later asked on the telephone to exclude nasal voice ascribable to causes other than PET, such as nasal diseases. Correlation between nasal voice and patient characteristics (age, sex, affected side, and PET symptoms such as autophony of own voice, aural fullness, and autophony of breathing sounds), subjective severity of PET evaluated by patulous Eustachian tube handicap inventory-10 (PHI-10), and that with the objective severity of PET evaluated by tubo-tympano-aerodynamic-graphy (TTAG) and sonotubometry were investigated.Seventy-six patients (36 men and 40 women) with definite PET were evaluated in this study. Thirteen patients (17.1%) (five men and eight women) reported a nasal voice coinciding with the occurrence of PET symptoms such as voice autophony, aural fullness, and breathing autophony. Age, sex, affected side, PET symptoms (autophony of their own voice, aural fullness, and autophony of their breathing sounds), and objective findings (TTAG and sonotubometry) were not significantly different between the two groups. The average total score of the PHI-10 in the "PET associated Nasal Voice Group" was 35.8 ± 4.5, which was statistically higher than that of the "non PET associated Nasal Voice Group" 23.6 ± 10.7 (p = 0.002). Out of 76 patients, 44 were treated surgically (Kobayashi Plug). In the "PET associated Nasal Voice Group," 85% (11 out of 13) were subjected to surgical treatment, whereas 52% (33 out of 63) underwent surgical treatment in the "non PET associated Nasal Voice Group." The rate of surgical treatment was significantly higher in "PET associated Nasal Voice Group" (p = 0.047).Nasal voice due to PET symptoms was observed in 17.1% of PET patients. It was generally found in patients with severe subjective symptoms. Nasal voice can be an indication of subjective severity. However, this study failed to show objective evidence of wider Eustachian tube in such cases. Patients with a nasal voice tended to seek vigorous treatment including surgery.

OBJECTIVES This study aims to investigate the possible impact of hormonal changes on nasal resonance during pregnancy. PATIENTS AND METHODS Between January 2013 and June 2013, a total of 101 pregnant women (mean age 27.1±5.8 years; range 18 to 41 years) visiting obstetric clinics for routine antenatal checkups were included in the study. The control group was consisted of 99 patients (mean age 29.2±6.6 years; range 18 to 42 years) without any nasal complaints. Nasal symptoms were assessed using the Nasal Obstruction Symptom Evaluation (NOSE) Scale. Nasalance scores were calculated by nasometry. The results were compared between study and control groups. RESULTS The mean nasalance score in pregnant women (40.4±7.8) were statistically significantly lower than the control group (44.7±6.4) (p

A previously healthy 49-year-old woman presented with progressive motor deficit. The complaints started the year before with weakness of the right arm. Over the subsequent months, she developed weakness in the left arm, followed by both legs, and, finally, difficulty speaking, with nasal voice, and swallowing. It was increasingly difficult to attend to her chores, and, by the time she sought medical attention, she needed help with all daily activities. In the last few weeks, she also complained of diffuse joint and muscle pain. Medical and family history were unremarkable.

Objetivo relacionar dados da avaliação perceptivo-auditiva queixa e autopercepção vocal de estudantes de Jornalismo. Métodos trata-se de estudo observacional, descritivo, transversal, com coleta de dados prospectiva, realizado na Universidade Estadual do Centro Oeste/UNICENTRO-PR. Participaram 41 estudantes de Jornalismo, sendo 27 do sexo feminino e 14 do sexo masculino. Foi aplicado um protocolo para coleta de dados de identificação e de queixas de voz, bem como foram feitos registros vocais com emissão sustentada da vogal “a”; e encadeada (contagem de números e meses do ano). Tais registros foram analisados por um fonoaudiólogo especialista em voz quanto à qualidade vocal (adaptada ou alterada). Os estudantes também responderam ao protocolo “Termos descritivos sobre a voz”;. Resultados mesmo apresentando vozes adaptadas, os estudantes apresentaram queixas vocais. As queixas mais comuns referiram-se a alterações de pitch, produção fonêmica, qualidade vocal e velocidade de fala. Os estudantes que apresentaram qualidade vocal adaptada mencionaram maior quantidade de termos positivos referentes à autopercepção. Não houve diferença na comparação entre a quantidade média de termos positivos e negativos apresentados pelo grupo. Os termos positivos mais referidos foram: voz simpática, expressiva, confiante, feminina, forte e dócil. Os negativos foram: voz desafinada, instável, oscilante, irregular, rápida, anasalada, baixa e tímida. Conclusão mesmo com vozes adaptadas do ponto de vista perceptivo-auditivo, acadêmicos de jornalismo referem queixas vocais, provavelmente pela demanda imposta durante a graduação. Purpose to relate data from auditory vocal analysis, complaint and vocal self-perception of journalism students. Methods it is an observational, descriptive, cross-senctional study with prospective data collection, conducted at Universidade Estadual do Centro-Oeste/UNICENTRO-PR. 41jounalism students participated, 27 women and 14 men. A protocol was applied to collect data of identification and voice complaints, and vocal recordings were made with sustained emission of the vowel “a”; and chained (counting of numbers and months of the year). These recordings were analyzed by a speech therapist, voice specialist, related to voice quality (adapted or altered). Students also responded to the protocol “Descriptive terms about voice”;. Results despite presenting adapted voices, the students presented voice complaints. The most common complaints reported to pitch change, phonemic production, voice quality and speech speed. The students who presented adapted voice quality mentioned a greater amount of positive terms related to the self-perception. There was no difference when compared the average amount of positive and negative terms presented by the group. The most positive terms listed were: nice voice, expressive, confident, feminine, strong and docile. The negatives were: tuneless voice, unstable, oscillanting, irregular, rapid, nasal voice, low and timid. Conclusion even with adapted voices from the auditory vocal point of view, journalism students refer voice complaints, probably due to the demand placed upon them during graduation.

This study examines the relationship of voice quality and speech-based personality assessment of Finnish-speaking female speakers. Five Finnish-speaking female subjects recorded a text passage with eight different vocal qualities. Samples that passed the preselection test for the voice qualities were played to 50 Finnish-speaking listeners, who reported speaker impressions on a scale of 18 opposite trait pairs. Voices produced with forward placement received assessments of femininity and friendliness. Readers speaking with backward placement were considered less feminine, while breathy voice evoked assessments of emotionality and implausibility. Tense phonation as well as creakiness, nasality, and denasality gave rise to numerous negative notions. The results suggest that voice stereotypes have both internationality and cultural dependency.

Listeners judged the dissimilarity of pairs of synthesized nasal voices that varied on 3 dimensions. Separate nonmetric multidimensional scaling (MDS) solutions were calculated for each listener and the group. Similar 3-dimensional solutions were derived for the group and each of the listeners, with the group MDS solution accounting for 83% of the total variance in listeners' judgments. Dimension 1 ("Nasality") accounted for 54% of the variance, Dimension 2 ("Loudness") for 18% of the variance, and Dimension 3 ("Pitch") for 11% of the variance. The 3 dimensions were significantly and positively correlated with objective measures of nasalization, intensity, and fundamental frequency. The results of this experiment are discussed in relation to other MDS studies of voice perception, and there is a discussion of methodological issues for future research.

Background Changes in nasalance caused by resonance change after endonasal surgeries have been reported in prior studies. In clinical practice, although patients often complain of a nasal voice just after surgery, their voices recover over time. The objective of this study was to evaluate the long-term nasalance changes before and after endonasal surgery. Methods Patients who underwent sinonasal surgery at Yeouido St. Mary's Hospital between March 2009 and July 2011 were included in this study. We classified the subjects into three groups according to the surgeries they underwent: group 1, the septoturbinoplasty group; group 2, the endoscopic sinus surgery group; and group 3, the septoturbinoplasty and endoscopic sinus surgery group. We checked acoustic profiles, Grade, Roughness, Breathiness, Asthenia, Strain (GRBAS) scores, and nasalance using a nasometer before and after the sinonasal surgery. Results When considering multidimensional voice program results, no observed parameters showed statistically meaningful changes before or after the operation in all three groups. GRBAS scales in all patients changed less than two scales postoperatively. Nasalance increased at 1 month after the operation in all groups. However, it returned to original levels with time: 3 months in group 2 and 6 months in groups 1 and 3. Conclusion Sinonasal surgery can change the acoustic characteristics of the vocal tract and produce a significant increase in nasality in the early phase. However, after proper healing of the nasal cavity, nasality was observed to become similar to the preoperative level. Therefore, patients, especially voice professionals, do not need to be wary of voice changes after sinonasal surgery.

Tek taraflı izole yumuşak damak felci nadir bir klinik durumdur. Tipik klinik özellikleri ani olarak başlaması, rinolali ve tek taraflı burun deliğinden nazal sıvı kaçağı olmasıdır. Bu hastalıkta viral bir etiyoloji düşünülmekte olup sıklıkla 2-3 yaşları arasında erkek çocuklar etkilenmekte ve kendiliğinden düzelmektedir. Biz akut disfaji, nazal konuşma ve buruna sıvı regürjitasyonu olan yedi yaşında bir erkek olguyu sunuyoruz. Olgunun magnetik rezonans ve viral serolojik testler gibi tamamlayıcı çalışmalarının tümü normaldi. Olguya herhangi bir tedavi verilmedi ve semptomları kendiliğinden iyileşti. Sonuç olarak, bizim olgumuz gibi akut disfaji, nazal konuşma ve buruna sıvı kaçağı olan olgularda yumuşak damak felci akılda tutulmalıdır., Unilateral isolated paralysis of the soft palate is a rare clinical entity. Typical clinical features are sudden onset, rhinolalia, and nasal escape of fluids from the ipsilateral nostril. This disorder suggests a viral etiology, affects mainly male children at the ages of 2 to 3 years, and resolves spontaneously. We describe the case of a 7-year-old boy who presented with acute dysphagia, nasal voice and liquid regurgitation to the nose. All the complementary studies, including magnetic resonance and viral serology tests, were normal. No treatment was administered, and his symptoms improved spontaneously. In conclusion, paralysis of the soft palate should be considered in patients with acute dysphagia, rhinolalia and liquid regurgitation to the nose

The near-ubiquity of falls in elderly people1 should not deter doctors from seeking the cause. The annual incidence of myasthenia gravis in the UK is estimated at 1-2 in 100 000, but may be five times as high in elderly people in whom the disorder is thought to be substantially underdiagnosed. The mean time taken to diagnose myasthenia gravis in people over 60 years of age, after they develop symptoms, was estimated in 1996 as 4.5 months--almost twice the time taken to diagnose the disorder in younger people. Language: en

We present an unusual cause of rhinolalia clausa secondary to an oropharyngeal mass. A 69-year-old male presented to the otorhinolaryngology clinic with a one year history of a ‘plummy’ voice. He had a longstanding history of severe ankylosing spondylitis. Examination revealed an obvious hyponasal voice and a smooth hard mass in the midline of the posterior nasopharyngeal and oropharyngeal walls. Subsequent computed tomography scans and lateral plain neck X-ray showed a fracture dislocation of the odontoid peg, secondary to ankylosing spondylitis, which had eroded through the body of the C1 vertebra to lie anteriorly, resulting in the aforementioned impression into the pharyngeal mucosa. The radiological images, the role of the nasal airways in phonation and the causes of hyponasal speech are discussed.

A conservative surgical technique is proposed as an alternative to the classical uvulopalatopharyngoplasty (UPPP) for the treatment of obstructive sleep apnea and snoring. The resection is strictly intrapalatine, and careful suturing in three planes seems to lead to complete disappearance of the often unbearable postoperative pain. The soft palate is shortened but nonetheless still resembles a normal soft palate. Uvulopalatopharyngoplasty (UPPP) was described by Ikematsu in 1952. This method has taken on a new lease of life in recent years. Its efficacy is generally accepted, and its use, especially in cases of obstructive sleep apnea syndrome, is the only treatment of the palatal velum at present practiced. In addition to aesthetic problems, this method generally gives rise to complications in the shape of temporary--but sometimes considerable--pain, nasal regurgitation, and a nasal voice. In a small percentage of patients, some of these disorders may prove irreversible. In my series of eight patients, five were obese and presented with hypertension. Three of them also were suffering from obstructive sleep apnea syndrome. The three others were ordinary snorers who caused considerable inconvenience to sleeping partners.

Van der Woude syndrome (VWS) is a rare developmental disorder with an autosomal dominant inheritance and variable expressivity, occurring in about 1 of every 1,00,000-2,00,000 people. This syndrome is remarkably variable. It is characterized by orofacial manifestations like lower lip pits, cleft lip and/or cleft palate, hypodontia, cleft or bifid uvula, syngnathia, narrow high arched palate, ankyloglossia and hyper nasal voice. We report two interesting cases of VWS with characteristic orofacial features and an unusual additional finding of bilateral commissural pits. The purpose of this article is to facilitate understanding of etio-pathogenesis, clinical manifestations, role of genetic counseling and with special emphasis on commissural pits as an additional feature in VWS.

This study examined the relationship of an acoustic measure of speech based on the Long-Term Average Spectrum (LTAS), expert ratings of five voice qualities (breathy, creaky, nasal, tense, and whispery voices), and naive ratings of status and solidarity. Six male and six female speakers recorded a standard passage in the five voice types; these recordings were then analysed acoustically using the LTAS, judged by expert coders, and rated by undergraduate students. A two-stage path analysis revealed significant prediction from the LTAS to expert ratings on all voice qualities except nasality. In addition, creaky, nasal, and tense voices were negatively related to solidarity judgements, and nasal voice was negatively related to status judgements. These results point to the usefulness of the LTAS in measuring voice quality, as well as to the importance of perceptual judgements in connecting physical measures of the voice to impressions of speakers. Finally, the results suggest that the ‘ideal’ voice may be characterised by only small amounts of all these voice qualities.

Voice qualities function communicatively in various ways within social interactions. This study uses a matched guise technique, in which Australian speakers producing examples of breathy, creaky, nasal, tense, and whispery voices were evaluated by Australian and American listeners on the dimensions of status and solidarity. The major results indicated that high status was accorded to male tense voice, and high solidarity to female breathy voice. Both these results are in accordance with earlier studies. Nasal voice was evaluated low in status but somewhat higher on solidarity. Nasal voice has been associated with the non-standard “Broad Australian” speech variety. The last result, therefore, may indicate a type of accent loyalty, or be an example of the covert prestige accorded non-standard accents generally. No nationality of subject differences were found.

An Italian male aged 50 years with oculopharyngeal muscular dystrophy is reported. Eleven of his relatives, over a period of three generations, had ptosis, dysphagia, nasal voice and difficulty in walking. The distribution of muscle weakness in the propositus and in one of his sisters was proximal in the upper, but distal in the lower limbs, confirming the existence of a relationship between oculopharyngeal dystrophy and distal myopathy. The first muscle biopsy appeared normal except for some round-cell collections, whereas the second one, 5 years later, showed marked dystrophic changes. Some patients with oculopharyngeal dystrophy may apparently pass through a secondary muscular inflammatory stage.

In 1976, we reported a peculiar facial appearance [1] specifically related to conotruncal anomalies of the heart that was thus named “conotruncal anomaly face” (CTAF) and was characterized by lateral displacement of inner canthi, narrow palpebral fissures, flat nasal bridge, bloated eyelids, small mouth, hypoplastic mandibula, deformed earlobe, and nasal voice with velopharyngeal insufficiency [1–3].

The following brief clinical studies of multiple neuritis embrace only those cases in which were found motor and sensory paralysis of symmetric development, but do not include that form of neuritis which affects only the muscles of the palate or of the nose, as shown by regurgitations of fluids, with nasal voice or those cases affecting only the ocular muscles. Diphtheria is undoubtedly by far the greatest cause of multiple neuritis. Comparatively few cases are caused by the other infectious diseases. Smallpox is not infrequently a cause of the disease, but I have seen no mention made of chicken-pox giving rise to the disease. I, unfortunately, have one case to report of the production of the disease by arsenic given during the course of treatment of chorea. I have twelve cases to report, the causes of which were: arsenic administered for chorea, 1 child; diphtheria, 9 cases; varicella, 1 case

To the Editor: —I wish to call your attention to an error in the editorial, "Babinski and the Plantar Reflex" ( JAMA 183: 281 [Jan 26] 1963). As written, one is led to believe that the so-called Babinski-Nageotte syndrome has to do with locomotor ataxia. The latter term refers to ataxia dependent upon loss of sense of position and has historically been linked to tabes dorsalis. The so-called Babinski-Nageotte syndrome is based on a paper read at the Societe de Neurologie de Paris, April 17, 1902, and published under the title "Hemiasynergie, lateropulsion et myosis bulbaires avec hemianesthesie et hemiplegie croisees" ( Rev Neurol [Paris] 10: 358, 1902). Three patients had been seen but only one case was presented in detail. The patient, a 50-yr-old luetic, had headache, vertigo, dysphagia, nasal regurgitation, and a nasal voice. The palatal reflex was abolished. Sensations of touch and temperature were deficient on the right side

Background 22q11.2 Deletion Syndrome DGS (22q11) is a micro deletion syndrome caused by the deletion on chromosome 22. It is a multi system disorder which affects Cardiovascular system, immune system, facial features covered by acronym CATCH22 (Cardiac defects aortic arch anomalies, conotruncal anomalies, ventricular septal defect, patent ductus arteriosis and tetra logy of fallot; Abnormal facies ; Thymic hypoplasia; Hypocalcemia). Few children will not present with all of the above clinical features but only delayed motor mile stones, learning disability and mild behavioral issues which may progress onto psychiatric illness in adulthood. In this study, we aim to study the prevalence of DGS in patients with psychiatric illness.