Effect of renal failure on voice.

The objective of this case-control study was to assess the impact of dysphonia on quality of life and to report the perceptual and acoustic findings in patients with chronic renal failure. A total of 22 patients with chronic renal failure and 18 healthy controls were recruited. Patients were asked to complete the Voice Handicap Index (VHI)-10 to assess the impact of dysphonia on quality of life. Perceptual evaluation of patients' voice recordings using the GRBAS classification was performed. Acoustic analysis was also conducted. Fundamental frequency, habitual pitch, shimmer, relative average perturbation, harmonic-to-noise ratio, voice turbulence index, and the maximum phonation time were reported. The mean scores of the VHI-10 were within normative values, with no significant difference between groups. There was also no significant difference in any of the acoustic parameters or in the mean score of any of the perceptual parameters between patients and controls. We conclude that patients with renal failure do not have dysphonia with a significant impact on quality of life, as evident by the normative values of the VHI-10. There were neither perceptual nor acoustic differences between patients and controls.

Structural and Anatomic Laryngeal Measurements in Geriatric Population Using MRI.

OBJECTIVE: The study aims to evaluate the changes in volume and dimensions of the thyroarytenoid (TA) muscle in the elderly using magnetic resonance imaging (MRI). STUDY DESIGN: This is a retrospective study. METHODS: The neck MRIs of 40 adult patients aged less than 65 years old and 40 patients aged 65 years old and above were compared. Demographic data included age and gender. The length, width, and height of the TA muscle as well as its volume were measured on each side, right and left, in both groups. RESULTS: The differences in the mean length, width, and height of TA muscle were not statistically significant between the two groups on either right or left side. Similarly, there was no statistically significant difference in the mean volume of the TA muscles between the two groups on either side as well. The mean volume of the right and left TA muscles in those aged less than 65 years was 0.65 ± 0.26 mL and 0.69 ± 0.30 mL, respectively. The mean volume of the right and left TA muscles in the elderly group was 0.72 ± 0.31 mL and 0.72 ± 0.32 mL, respectively. CONCLUSION: Using MRI, there are no dimensional or volumetric changes in TA muscles with aging.

Formant frequency in relation to body mass composition.

OBJECTIVES: This study examines the relationship between total body mass composition and vowel formant frequency and formant dispersion in men. METHODS: A total of 60 healthy male volunteers were recruited. Formant frequencies and dispersions of F1, F2, F3, and F4 for the vowels /ɑː/ and /iː/ were determined using spectrographic analysis. RESULTS: The mean height and weight were 179.17 cm and 80.53 kg, respectively, with fat-free weight averaging to 67.02 kg (65.5% in the extremities vs 16.7% in the trunk). The body mass index (BMI) was 25.5 ± 3.34 kg/m(2). For the vowel /ɑː/, F1 and F4 correlated poorly with weight and trunk fat-free mass. There was also a poor negative correlation between F4 and muscle mass and body fat-free mass (r < 0.36). For the /iː/ vowel, there was a weak negative correlation between F2, F3, and F4 and height (r = -0.260, -0.299, and -0.320, respectively). Similarly, there was a negative correlation between F2 and muscle mass, trunk fat-free mass, and body fat-free mass (r = -0.291, -0.276, and -0.272, respectively). For the vowel /ɑː/, F1-F2 interspace correlated positively with fat weight, fat mass in the extremities, and trunk (r = 0.313, 0.350, and 0.264, respectively), whereas F2-F3 negatively correlated with weight (r = -0.255). For the /iː/ vowel, only F1-F2 negatively correlated with weight and BMI (r = -0.297 and -0.281). CONCLUSION: There is no significant correlation between body mass composition, formant frequencies, and dispersions. All the correlations were poor with r values less than 0.36.

Mean contact quotient using electroglottography in patients with multiple sclerosis.

OBJECTIVE: To compare the mean and standard deviation (SD) of the contact quotient (CQ) of the sustained vowels ([a] and [e]) in multiple sclerosis (MS) patients versus controls. STUDY DESIGN: Cross-sectional study. MATERIALS AND METHODS: Thirty-nine subjects (24 patients and 15 controls) participated in this study. Laryngeal electroglottography was performed on all subjects while phonating the vowels [a] and [e] at a comfortable pitch and loudness. The fundamental frequency, mean CQ, SDs, and jitter were computed for both vocal tasks. RESULTS: The mean age of the MS group was 36.25+10.61 years. All laryngeal examinations were normal and five patients with MS had dysphonia described as voice breaks and fatigue in connected speech. For both vowels [a] and [e], the mean closed quotients were comparable in groups, MS and control (43.90 vs 53 for [a] and 44.75 vs 43.63 for [e]) with no significant difference. When comparing five MS patients with dysphonia versus controls, for the vowel [a], the mean closed quotient was significantly lower in MS patients with dysphonia (P values of 0.043). CONCLUSION: The mean closed quotient for sustained vowels [a] and [e] are comparable in MS patients and healthy controls except in patients with dysphonia.

Cricothyroid joint abnormalities in patients with rheumatoid arthritis.

The objective of this study was to assess structural and functional abnormalities of the cricothyroid joint (CTJ) in patients with advanced rheumatoid arthritis (RA). A total of 19 subjects--11 patients with advanced RA and eight normal controls--were considered. All subjects underwent laryngeal endoscopy, acoustic analysis, and high-resolution computerized tomography (HRCT). Vocal symptoms, such as hoarseness, loss of range, vocal fatigue, and dyspnea were inquired and acoustic parameters, mainly pitch range, fundamental frequency, habitual pitch, perturbation parameters, and noise-to-harmonic ratio (NHR) and voice turbulence index were measured. Frequencies and means were calculated for categorical and continuous variables. Cases and controls were compared with respect to acoustic analysis, HRCT findings and laryngeal symptoms using nonparametric tests, Mann-Whitney U test for continuous variables and Fishers exact test for categorical variables. Almost half of the patients with RA had loss range and two-thirds had vocal fatigue. Thirty-six percent experienced hoarseness compared with 25% in the control group. 9.1% had decrease in vocal fold mobility and 27% had moderate/severe edema of the vocal folds/arytenoids compared with none in the control group. HRCT showed narrowing in the CTJ in 81.8% and ankylosis in 9.1% compared with none in the control group. 45.5% had an increase in the CTJ density compared with 12.5% in the control group. Acoustic analysis revealed significant decrease in pitch range and maximum phonation time (MPT) and significant increase in perturbation parameters. CTJ is commonly affected in patients with RA. Functional disabilities are crucial especially in professional voice users. Proper awareness is important for early detection and intervention.

When bone becomes marble: Head and neck manifestations of osteopetrosis.

Osteopetrosis is a genetically determined bone disease resulting from malfunction of osteoclastic activity, leading to excessive deposition of immature bone. This may result in complete agenesis of the paranasal sinuses, oral complications and multiple cranial neuropathies. The case of a 12-year-old boy with osteopetrosis is presented.

Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency.

Isolated growth hormone deficiency (IGHD) IB is an autosomal recessive disorder characterized by a good response to exogenous growth hormone (GH) treatment without development of anti-GH antibodies. Patients with IGHD IB were found to be compound heterozygotes for deletion and frameshift mutations as well as homozygotes for splicing mutations in the GH-1 gene. Recently, a novel splicing mutation in the GH-1 gene was identified in an extended, consanguineous Arab-Bedouin family from Israel with IGHD IB. Prior to the identification of this mutation, a considerable number of children with short stature in this family were found normal on pharmacological stimulation for GH release. This observation prompted a genotype/phenotype correlation of potential heterozygotes in the family. Carriers of the mutant GH-1 allele were found as a group to have a significantly shorter stature than normal homozygote (mean standard deviation scores, 1.67 and -0.40, respectively, P<0.05). Moreover, 11 of 33 (33%) heterozygotes, but only 1 of 17 (5.9%) normal homozygotes, had their height at 2 or more SD below the mean. Overall, 48.5% of studied heterozygotes were found to be of appreciably short stature with height at or lower than the 5th centile (> or = -1.7 SD), whereas only 5.9% of the normal homozygotes did (P<0.004). This phenomenon of heterozygotes for a recessive mutation in the GH-1 gene manifesting short stature, might imply that some such mutations may account for non-GH deficiency reduced height in the general population.

Growth hormone deficiency type IB caused by cryptic splicing of the GH-1 gene.

We have found a novel mutation in intron 4 of the GH-1 gene in a Bedouin kindred with isolated growth hormone deficiency type IB (IGHD IB). RFLP analysis suggested linkage between the GH-1 gene and IGHD. Nested PCR amplification followed by single stranded conformation polymorphism (SSCP) analysis indicated sequence variation between introns 2 and 4. Sequencing showed a G-->C transversion at the fifth base in the splice donor region of intron 4. Affected individuals were homozygous for the mutation, which creates a new Mae III restriction site. Reverse transcription and PCR of GH-1 transcripts in EBV transformed lymphocytes indicated predominance of a species lacking 73 bp of exon 4. Amplification with a bridging primer showed that the same mRNA species is present in lymphocytes from normal individuals. The first 102 amino acids of the predicted protein are identical to wild-type GH, but the next 94 amino acids are completely divergent.

Preservation of growth hormone secretion in response to growth hormone-releasing peptide-2 during prednisone therapy.

Children who require long-term glucocorticoid treatment often demonstrate poor growth. Growth hormone (GH) secretion is decreased during glucocorticoid treatment, and this decrease may be due to a relative excess of the hypothalamic hormone somatostatin (SRIF). GH-releasing peptide-2 (GHRP-2) is a GH secretagogue that acts via multiple mechanisms at multiple sites. One of its proposed mechanisms is the ability to bypass SRIF blockade of GH secretion. We measured the ability of GHRP-2 to release GH before and during prednisone therapy (20 mg orally three times daily for 4 days). The degree of preservation of GH secretion and the pattern of GH release in response to GHRP-2 were compared with those observed in response to arginine, a known SRIF inhibitor. GH release in response to GHRP-2 and arginine was measured in the same eight subjects before and during prednisone therapy. Before prednisone, peak GH levels in response to arginine and GHRP-2 were 8.8 +/- 2.8 and 80.8 +/- 21.2 microg/L. During prednisone therapy, the peak GH level in response to arginine and to GHRP-2 was 20.1 +/- 8.3 and 71.3 +/- 18.4 microg/L, respectively. The difference in peak values before and after prednisone was not significant. The time to the peak GH level during prednisone therapy occurred sooner for both arginine and GHRP-2. The pattern of GH release to arginine and to GHRP-2 was not identical, and the mean area under the curve for GH release to GHRP-2 decreased significantly with steroid treatment (P = .04), suggesting that GHRP-2 acts by mechanisms additional to the removal of SRIF inhibition. GHRP-2 elicited a 10-fold greater GH response than arginine at baseline, and the GH response was threefold greater versus arginine even in the face of prednisone therapy. GH release occurred earlier for both arginine and GHRP-2 during steroid treatment. We propose that this may suggest an increased storage phenomenon due to the blockade of GH secretion by glucocorticoids and then a sudden release with SRIF inhibition. If GHRP-2 can indeed counteract the inhibitory effect of glucocorticoids on GH secretion, then a new form of therapy may be available to support growth in children who must receive long-term steroid treatment.

Predictors of change in insulin sensitivity during glucocorticoid treatment.

Glucocorticoid induced alterations in carbohydrate metabolism can result in hyperglycemia. We evaluated changes in carbohydrate metabolism produced by four days of prednisone (20 mg PO TID) measuring insulin sensitivity, basal glucose, basal insulin and first phase insulin release (FPIR). We correlated these measures of carbohydrate metabolism with changes in free fatty acids and lactate levels both of which have been reported to be possible mediators of insulin sensitivity. Insulin sensitivity decreased by 64% (p = 0.002), basal insulin levels increased 50% (p = 0.026), FPIR tripled (p = 0.064) while fasting glucose levels increased significantly but remained normal. Basal FFAs levels increased (p = 0.045) while lactate levels did not change significantly, and neither predicted changes in SI. Basal levels of SI and FPIR were found to be independent predictors of change in insulin sensitivity and together explained 83% of the change in insulin sensitivity produced by short term treatment with prednisone.

Genetics of growth hormone gene expression.

The regulation of pituitary GH gene expression depends on binding of transcriptional activation proteins to cis-active DNA sequences preceding the GH-1 gene. The POU homeodomain protein Pit-1 is found in the nuclei of somatotrophs, lactotrophs and thyrotrophs. It fosters differentiation of these pituitary cell types and is required for hormone production by mature cells. In theory, defects in GH secretion can be caused by mutations in the GH-1 promoter sequence or in the gene encoding Pit-1. In the former case, deficiency would be limited to GH, and in the latter deficiencies extend to prolactin (Prl) and thyrotropin (TSH) as well as to GH. Both the Pit-1 gene and the GH-1 gene have been examined in children with extreme growth failure. Studies of kindreds with GH, Prl and TSH deficiency have disclosed a variety of mutations in the Pit-1 gene. These include nonsense mutations, missense mutations that diminish binding and transcriptional activation, and also mutations that appear to increase promoter binding while eliminating transcriptional activation. This latter class of mutation exerts a dominant negative effect in vivo as well as in vitro. There are many examples of deletions in the GH-1 coding sequence. Some are very large and cause the loss of GH-1, chorionic somatomammotropin and placental GH genes. Others are very small, involving only 1 or 2 bases. They produce frameshifts and premature stop signals. All types produce complete deficiency of GH, but antibody development during treatment has proven to be quite variable. The cDNA for the GH-releasing hormone receptor has recently been cloned and sequenced.(ABSTRACT TRUNCATED AT 250 WORDS)

Leiomyoma of the incisive papilla region: a case report.

Leiomyomas are benign neoplasms of smooth muscle origin. They represent rare entities in the oral cavity. A case arising from the incisive papilla region of a 3-month-old infant is described and the histogenesis as well as the biologic potential of this tumor are discussed.