Nasal Voice Research Articles

Effects of Tonsillectomy on Speech and Voice

The aim of this study was to evaluate changes in acoustic features of speech after tonsillectomy and to establish concepts of patient management and rational therapeutic approach. Before and 1 month after surgery, phonetically balanced sentences and sustained vowels a, e, i were carried out and digitalized with Multi-Dimensional Voice Program (Kay Elemetrics, Lincoln Park, NJ) in all the patients, as an evaluation of nasal resonance, speech articulation, and voice handicap index (VHI). These parameters were estimated: average of fundamental frequency, Jitter percent, Shimmer, noise-to-harmonics ratio, voice turbulence index, soft phonation index, degree of voiceless, degree of voice breaks, and peak amplitude variation. Our data showed that 1 month after tonsillectomy, improvements in all the acoustic parameters, a subjective decrease of hypernasality, and an improvement of speech articulation and VHI were achieved. These data suggest the reduction of the nasal resonance and highlight the role of tonsillectomy in the improvement of voice and speech quality. Furthermore, tonsillectomy should be performed before consideration of pharyngeal flap surgery. Our results highlight that objective evaluation of speech and voice helps the specialist to improve patient management and avoid unnecessary and dangerous surgical procedures.

Antibodies against disialosyl and terminal NeuNAc(α2-3)Gal ganglioside epitopes in acute relapsing sensory ataxic neuropathy

JO N 2 80 3 Neurological examination revealed ophthalmoplegia and gait ataxia with a positive Romberg’s sign. Deep tendon reflexes were absent as was sensation to vibration up to the knees and elbows. Sensory loss mainly affecting propioceptive and kinesthetic sensations was predominant in lower limbs. Bulbar involvement was manifested by the presence of dysphagia, nasal voice and phonation difficulties. Muscle strength was normal. Electrophysiologic findings were consistent with a demyelinating sensorymotor polyneuropathy. CSF was acellular with elevated protein levels (1.200 g/L, normal < 0.450 g/ L). Serum immunofixation revealed an IgM-κ type M component. Cold agglutinins were present. Screening tests for malignancy, serum level of vitamin B12 and E, folate, VDRL and HIV, anti-Ro and anti-La antibodies, and anti-MAG antibodies were normal or negative. The patient improved after a course of intravenous immunoglobulins (0.4 g/kg body weight) and symptoms resolved completely. Nine years later he developed a similar episode, following another upper respiratory tract infection, and spontaneously recovered two weeks later. Serum samples were obtained during the acute phase of both episodes and six months later. ELISA showed high titres of serum antiGM3 (1:25500), GD1a (1:1100), Ricard Rojas-Garcia Eduard Gallardo Monica Povedano Noemi de Luna Jordi Bruna Candido Juarez Jordi Diaz-Manera Juan Antonio Martinez-Matos Isabel Illa

Consecutive bites on two persons by the same cobra: a case report

In tropical countries like Bangladesh, persons are bitten by snakes every day and a considerable number of patients die en route to the hospital. An event of consecutive neurotoxic bites on two men by a single snake was observed in the Snake Bite Study Clinic (SBSC) of the Chittagong Medical College Hospital (CMCH). Two brothers, working in their semi-pucca restaurant, were successively bitten by the same cobra on their lower limbs. Within an hour, they were taken to the CMCH. Few minutes after admission, both developed symptoms of neurotoxicity: ptosis, nasal voice, dysphagia, broken neck sign, etc. They received polyvalent antivenom (Haffkine Bio-Pharmaceuticals Company, India) and other auxiliary treatment immediately. Within few hours, neurotoxic features were completely absent. Later, the snake was captured in the restaurant kitchen and identified as monocellate cobra (Naja kauthia) by the SBSC. The elder brother developed significant antivenom reactions and both presented necrosis and ulceration at the bite sites. In these cases, immediate arrival to the hospital and early administration of antivenom resulted in successful recoveries.

Patulous Eustachian Tube in Spontaneous Intracranial Hypotension Syndrome

A 48-year-old slender woman presented with a rare case of spontaneous intracranial hypotension syndrome manifesting as patulous Eustachian tube. The patient complained of sudden onset of ear fullness and nasal voice as well as typical orthostatic headache. Patulous Eustachian tube was identified by observation of synchronous movement of the tympanic membrane with respiration and swallowing. The diagnosis of spontaneous intracranial hypotension was confirmed by negative cerebrospinal fluid pressure, and typical magnetic resonance imaging and radioisotope cisternography findings. All symptoms completely resolved within a few days after epidural blood patch treatment. Changes in the venous blood distribution led by collapse of the dural sac of the cervical spine in the standing position presumably caused decreased size of the pterygoid venous plexus around the Eustachian tube.

Seizures as the first manifestation of chromosome 22q11.2 deletion syndrome in a 40-year old man: a case report

BackgroundThe microdeletion of chromosome 22q11.2 is the most common human deletion syndrome. It typically presents early in life and is rarely considered in adult patients. As part of the manifestations of this condition, patients can have parathyroid glandular involvement ranging from hypocalcemic hypoparathyroidism to normocalcemia with normal parathryroid hormone levels. The first manifestation of the syndrome might be seizures due to profound hypocalcemia.Case presentationA 40-year-old man without significant past medical history presented with a new-onset generalized tonic-clonic seizure. He had no personal history of hypocalcemia or seizures. Physical examination was remarkable for short stature, hypertelorism, prominent forehead and nasal voice. His initial laboratory examination showed hypocalcemia (Calcium 5.2 mg/dl and Calcium ionized 0.69 mmol/l) with hypoparathyroidism (Parathyroid hormone intact < 2.5 pg/ml. NV: 14–72 pg/ml). Urine Calcium was 3 mg/dl on a spot and 88 mg in a 24-hour urine collection (NV: 100–300 mg/24 hs). The electrocardiogram showed a prolonged corrected QT interval. Echocardiogram, abdominal ultrasound and electroencephalogram were normal. A computer tomography of the brain showed basal ganglia calcification. The subtle physical findings and the presence of idiopathic hypoparathyroidism motivated the performance of fluorescent in situ hybridization which demonstrated a microdeletion on one of the homologs 22q11.2. The patient was treated with calcium citrate and calcitriol with good response.ConclusionMicrodeletion of chromosome 22q11.2 is among the most clinically variable syndromes, with more than 180 features associated with the deletion. It has a variable phenotypical expression, requiring a high level of awareness for its early diagnosis. Seizures, related to marked hypocalcemia due to idiopathic hypoparathyroidism, might be the presenting feature in an adult patient with this syndrome.

Mysterious falls and a nasal voice

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

Vocal cord paralysis in myasthenia gravis with anti-MuSK antibodies

About 20% of patients with generalized myasthenia gravis (MG) have undetectable serum antibodies to the nicotinic acetylcholine receptor (AChR). These patients are referred to as having seronegative MG. Recently, it has been demonstrated that about 50% of patients with generalized seronegative MG have antibodies to the surface membrane enzyme muscle-specific tyrosine kinase (MuSK) in Caucasian populations and a high frequency of respiratory crises.1 Here, we report a case of MG with anti-MuSK antibodies presenting with vocal cord paralysis, facial muscle weakness, and bulbar palsy. A 56-year-old man showed mild upper limb muscle weakness and fatigue on swallowing and chewing that worsened at the end of days in April 2000. He was admitted to our hospital in February 2001. Neurologic examination revealed mild muscle weakness and atrophy of his proximal muscles in the neck, shoulder, upper arm, and thigh. Nasal voice and dysphagia and facial muscle weakness were also observed, There was no ptosis or diplopia. Although repetitive …

Patulous Eustachian Tube in Spontaneous Intracranial Hypotension Syndrome

A 48-year-old slender woman presented with a rare case of spontaneous intracranial hypotension syndrome manifesting as patulous Eustachian tube. The patient complained of sudden onset of ear fullness and nasal voice as well as typical orthostatic headache. Patulous Eustachian tube was identified by observation of synchronous movement of the tympanic membrane with respiration and swallowing. The diagnosis of spontaneous intracranial hypotension was confirmed by negative cerebrospinal fluid pressure, and typical magnetic resonance imaging and radioisotope cisternography findings. All symptoms completely resolved within a few days after epidural blood patch treatment. Changes in the venous blood distribution led by collapse of the dural sac of the cervical spine in the standing position presumably caused decreased size of the pterygoid venous plexus around the Eustachian tube.

Clinical improvement in a case of atypical infantile onset Pompe disease with enzyme replacement therapy

Pompe disease is a genetic disorder caused by a deficiency of acid α-glucosidase (GAA). Infantile onset Pompe disease is uniformly lethal. Affected infants generally present in the first few months of life with hypotonia, generalized muscle weakness, and a hypertrophic cardiomyopathy, which is rapidly followed by death, usually by the age of one. The late-onset form is characterized less severe symptoms and prognosis. Therapy for Pompe disease is intended to directly address the underlying metabolic defect via intravenous infusions of recombinant human GAA to replace the missing enzyme. We report a case of atypical infantile-onset Pompe disease that presented symptoms in infancy but had less severe clinical manifestations and improved after GAA enzyme replacement (Myozyme®, Genzyme Co., MA, USA) therapy. It is very important that pediatricians become aware of signs and symptoms of Pompe disease, such as a nasal voice or a waddling gait at an early stage so that these patients can benefit from appropriate GAA replacement therapy as soon as possible.

A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions

A further case of 3q29 deletion, in a 13-year-old boy, is described and compared with previous reports. Our case shares a number of dysmorphic and neurodevelopmental features with previously reported individuals with 3q29 microdeletion and is the second reported case with deceleration in head growth--which may be a useful diagnostic clue. Novel features, which may expand the phenotype, include nasal voice, six lumbar vertebrae, lower limb contractures and cerebral sigmoid venous thrombosis. Additionally, cases with cytogenetically visible terminal 3q deletions are reviewed.

A phenotypic‐genetic study of a group of Polish patients with spinal and bulbar muscular atrophy

We studied phenotype-genotype correlation in a group of Polish males with spinal and bulbar muscular atrophy (SBMA) and in female carriers. Eleven males with suspected SBMA phenotype and three suspected female carriers were examined. Male patients presented with the predominant signs of progressive, symmetrical distal limb weakness with amyotrophy, facial muscular weakness with orofacial fasciculations, nasal voice and slight dysphagia, gynaecomastia, decreased potency, as well as hand tremor and distal peripheral sensory disturbances in a few cases. One of the carriers presented with a 30-year history of fasciculations and minimal distal weakness and cramps in the legs, while the other two were asymptomatic. DNA analysis revealed expanded size of CAG repeats in Xq11-12 in the AR gene in 10 out of 11 men (range 45-52 CAG repeats) and in the women (range 46-48 CAG repeats). There was no correlation between CAG repeat size and the age of disease onset and duration of the disease. A rare, predominantly distal distribution of weakness and amyotrophy was found in our group of the SBMA patients (8 out of 11 cases) from three unrelated kindreds and also in the remaining two sporadic cases. The extended CAG repeats within families were stable.

Elsie

Elsie Edwidge Danticat (bio) Fleur was with her live-in "pulmonary fibrosis" when her ex-husband called to inform her that his girlfriend, Elsie, had been kidnapped in Port-au-Prince. Fleur had just fed Tiggs, the fibrosis patient, when her cell phone rang, spoon after spoon of heavily creamed spinach, which was meant to be digested easily while packing on calories. Tiggs was lying back in bed, his head carefully propped on two firm pillows, his pale, gaunt face angled toward the bedroom skylight, which allowed him a slanted view of a blooming ailanthus. He would often attempt to guess the weather, based on the sway of the ailanthus' large, pointy leaves, advising a willowy Fleur to dress appropriately to face what he grandly and enviously referred to as "l'extérieur." Fleur removed the empty plate from Tiggs's nightstand and wiped a lingering string of spinach from his chin. Shuffling both hands, he signaled to her not to leave the room, while motioning for her to carry on with her phone conversation. Quickly turning her attention from Tiggs to the phone, Fleur pressed it close to her lips and asked, "When?" "This morning." Sounding hoarse and exhausted, Guillaume, the ex-husband, jumbled his words. His singsong tone, which Fleur attributed to his actually being a singer, was gone, replaced by a nearly inaudible whisper. "She was leaving a cousin's house," he continued. "Two men grabbed her, pushed her into a car and drove off." Fleur could imagine Guillaume sitting, or standing, with the phone trapped between his neck and shoulders, while he used his hands to pick at his fingernails. It was an obsession of his, clean nails. Dirty fingers drive him crazy, she'd reasoned, because like her, he was only one generation removed from Haiti's northern peasantry and barely missed having them all his life. "You didn't go with her?" Fleur asked. "You're right," he answered, loudly drawing an endless breath through what Fleur knew were clenched teeth. "I should have been there." Tiggs's eyes wandered down from the ceiling to Fleur's. He had been pretending not to hear but was now looking directly at her. Restlessly shifting his weight from one side of the bed to the other, he paused to catch his breath. He wanted her off the phone. Tiggs had turned seventy that day and before his lunch had requested a bouquet of white roses and a bottle of champagne from his wife. When he'd suggested that these modest offerings might be her last to him, Mrs. Tiggs had broken down and cried, but had rushed out to procure them. Suddenly she was back. [End Page 22] "Fleur, I need you to hang up," she said as she laid out two crystal flutes along with the flowers and champagne on a folding table by the bed. "Call me back," Fleur told Guillaume. After she hung up, Fleur sat at the dying man's feet, watching the ailanthus' shadows swaying over his entire body. She was afraid of shadows. Had been most of her life. As a girl, she was told that if she chased them, they'd come back to haunt her. And sure enough, once the suggestion was planted, they did. That afternoon, Guillaume called back to tell Fleur that Elsie's cousin, the one she'd been visiting when she was abducted, had heard from her captors. The cousin asked to speak to Elsie but her kidnappers refused to put her on the phone. Thinking that Fleur might have heard Elsie speak about him—which Fleur had not—Guillaume took great pains to explain who the cousin was. "He's a very distant cousin," he said. "He's called Toyo." Apparently because he ran a Toyota dealership with a sign from which the last two letters were missing and which he's never bothered to fix. He was also called Cow's Head or Tèt Bèf, because the Toyota emblem resembled cows' horns, but his real name was Dimitri Alphonse. "They want fifty thousand from Toyo," Guillaume spoke in such a rapid nasal voice that Fleur had to ask him to...

Chromosome 22q11 Deletions in Patients with Conotruncal Heart Defects

We performed this study to determine the frequency of 22q11 deletions and associated phenotypic features and abnormalities in conotruncal heart defects. Sixty-one patients with conotruncal heart defects, including tetralogy of Fallot (TOF; n = 32), pulmonary atresia/ventricular septal defect (PAVSD; n = 12), double-outlet right ventricle (DORV; n = 5), transposition of the great arteries (TGA; n = 4 ), truncus arteriosus (TA; n = 4), subpulmonary ventricular septal defect (SPVSD; n = 3), and interrupted aortic arch (IAA; n = 1), were enrolled in this study and screened for 22q11 deletions by the fluorescence in situ hybridization technique. Phenotypic features and associated abnormalities, including submucosal cleft palate, abnormal facies, square nose, nasal voice, abnormal ears, long and slender fingers, delayed development, mental retardation, delayed growth, short stature, and hypocalcemia, were examined in these patients. Nine of 61 patients (14.8%) had 22q11 deletions, including 100% of IAA, 50% of TA, 33.3% of SPVSD, 33.3% of PAVSD, and 3.1% of TOF. Deletions were not detected in DORV and TGA. In all patients with 22q11 deletions, > or =1 phenotypic features or associated abnormalities were observed. A subgroup of patients with IAA, TA, SPVSD, and PAVSD associated with phenotypic features or abnormalities warrants evaluation for the presence of 22q11 deletions.

Traitement du ronflement simple par coblation vélaire

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.

Effect of Nasal Decongestion on Voice Spectrum of a Nasal Consonant-Vowel

The nasal cavity and its related structures make significant contributions to human phonation, especially the resonance of voice spectra. The voice spectra of the nasal consonant-vowel (CV), [md:], in the subjects with nasal obstruction were obtained and were compared with the spectra of the same CV vocalized by the same subjects after topical nasal decongestion treatment with 1:1000 epinephrine solution. Results revealed that the intensity damping was more marked in the high-frequency area (>1600 Hz) after the nasal decongestion. Moreover, the intensities of the spectral valleys damped more than the spectral peaks, especially the spectral valley of 1000-2700 Hz. Therefore, a more complex spectral pattern was formed by the resultant uneven damping effect after nasal decongestion. The nasal cavity plays an important role in the formation of spectral peaks and valleys, and such engraved voice spectra may also characterize nasal voices like the nasal CV [md:] demonstrated in our study.

Severe hypertrophy of the base of the tongue in adults

The lymphoid follicles at the base of the tongue can be detected when examining the pharynx of adults, but the presence of large follicles, denoted “severe” hypertrophy of the base of the tongue (HBT) is rare. The objective of the present study was to identify severe HBT cases and their symptoms and to correlate them with the presence of pharyngolaryngeal signs and esophageal symptoms of gastroesophageal reflux (GER) in patients seen at a laryngology clinic. Severe HBT was considered to be present when the follicles prevented the view of the epiglottis or were massively distributed through the pharynx and larynx. Five cases of severe HBT were detected among 306 patients submitted to videolaryngoscopy over a period of 2 years, corresponding to 1.6% (5/306) of the total sample studied. However, this index markedly increases to 4% (4/101) among patients with pharyngolaryngeal signs of GER and reached 7.5% (4/53) among patients presenting GER symptoms such as heartburn, regurgitation, retrosternal burning feeling, and dysphagia. The complaints due to severe HBT were noisy respiration, hoarseness, throat clearing, dry cough, globus pharyngeus, and nasal voice. We conclude that the frequency of hypertrophied follicles is increased in the presence of signs and symptoms of GER and those HBT symptoms are confused with those of GER, except for nasal voice and noisy respiration.

Cold-Induced Sweating Syndrome Is Caused by Mutations in the CRLF1 Gene

In 1978, Sohar et al. described a strikingly peculiar syndrome in two Israeli sisters. These young women responded to environmental temperatures of 18 degrees C-7 degrees C with profuse sweating on large segments on their back and chest. Both had additional abnormalities, including a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend their elbows, and kyphoscoliosis. We have observed this disorder in two Norwegian brothers. Genome-wide screening in the two families, followed by saturation marker studies and linkage analysis, identified a 1.4-Mb homozygous candidate region on chromosome 19p12. The maximum multipoint LOD score was 4.22. In both families, DNA sequencing of 25 genes within the candidate region identified potentially deleterious CRLF1 sequence variants that were not found in unaffected control individuals. Our findings confirm that the cold-induced sweating syndrome is an autosomal recessive disorder that is probably caused by impaired function of the CRLF1 gene, and they suggest important developmental functions for human CRLF1.

Parálisis aislada unilateral del velo del paladar: presentación de un caso y revisión de la literatura

Unilateral isolated paralysis of the soft palate is a rare clinical entity. We describe the case of a 12 year old girl who presented acute dysphagia, a nasal voice and regurgitation of liquids into the nose. Exploration revealed right velopalatine insufficiency with normal gag reflex and pharyngeal sensitivity. All the complementary studies, including magnetic resonance, lumbar puncture and viral serology tests, were normal. There are 28 similar cases in the literature, with the following characteristics: acute onset, appearing in infancy (96%), predominance in males (79%), recent respiratory infection (35%) and an excellent prognosis for recovery (85%). This is probably a case of acute cranial mononeuropathy with a viral aetiology

Acute isolated bulbar palsy with anti-GT1a IgG antibody subsequent to Campylobacter jejuni enteritis

We describe a patient with acute isolated bulbar palsy following enteritis. A 29-year-old man developed dysphagia and nasal voice without limb weakness, ataxia, or areflexia. High titres of serum anti-GT1a and anti- Campylobacter jejuni IgG antibodies were detected. He was treated with plasmapheresis, resulting in rapid clinical improvement. This case suggests that an acute isolated bulbar palsy may be caused by a pathology relating to Guillain–Barré syndrome (GBS), in which anti-GT1a IgG antibody may have a role.

Síndrome de Guillain­Barré atípico: Neuropatía Craneal Múltiple

Multiple cranial neuropathy is a condition rarely seen in everyday clinical practice. It has many different causes, and in spite of careful clinical investigation many cases remain of unknown aetiology. It is also considered to be an atypical variant, topographically circumscribed, of the Guillan Barr syndrome (GBS). A 23 years old man developed a progressive illness over ten days. He complained of diplopia, facial diplegia and a nasal voice. Subsequently, he also developed weakness of the neck and tongue muscles, dysphagia, abolition of reflexes of the left arm and right triceps reflex but without involvement of the respiratory muscles or other limbs. CSF studies showed slightly raised protein with no cells. Neurophysiological studies showed a demyelinating disorder with secondary axonal damage. In spite of further studies, no aetiological agent was found. These observations suggested this case is of a topographical variant of GBS. Such cases have also been classified as the Miller Fisher syndrome, pharyngo cervico brachial paralysis, are flexic paraparesia and bilateral lumbar polyradiculopathy. In view of the diversity of the clinical and biological characteristics of the cases reviewed, which may mean different aetiopathogeneses, we consider that a thorough search should be made for the aetiology before these conditions are labelled as atypical variants of GBS.