A retropharyngeal multinodular goitre

Thyroid goitre usually presents as a mid-line lump in the neck with or without compressive symptoms. More commonly, the goitre can extend inferiorly into the mediastinum resulting in a retrosternal goitre. We present an unusual case of goiterous enlargement of the thyroid gland into the retropharyngeal space presenting as a retropharyngeal mass.     

Tibial torsion in non-arthritic Indian adults: A computer tomography study of 100 limbs

Background:

Knowledge of normal tibial torsion is mandatory during total knee replacement (TKR), deformity correction and fracture management of tibia. Different values of tibial torsion have been found in different races due to biological and mechanical factors. Value of normal tibial torsion in Indian limbs is not known, hence this study to determine the norm of tibial torsional value in normal Indian population.

Materials and Methods:

Computer tomography (CT) scans were performed in 100 non-arthritic limbs of 50 Indian adults (42 males, eight females; age 26-40 years). Value of tibial torsion was measured using dorsal tangent to tibial condyles proximally and bimalleolar axis distally.

Results:

Normal tibial torsion was found to be 21.6 ± 7.6 (range 4.8 to 39.5) with none of the values in internal rotation. Right tibia was externally rotated by 2 degrees as compared to the left side (P 0.029). No significant difference was found in male and female subjects. Value of tibial torsion was less than in Caucasian limbs, but was comparable to Japanese limbs when studies using similar measurement technique were compared.

Conclusions:

Indian limbs have less tibial torsion than Caucasian limbs but the value of tibial torsion is comparable to Japanese limbs.     

Occurrence of allergic conditions in asthmatics with analgesic intolerance

BACKGROUND: The study aimed to determine whether allergic conditions accompany analgesic intolerance. METHODS: A total of 132 analgesic-intolerant patients with bronchial asthma admitted to the adult allergy unit from January 1991 to October 1997 and 103 patients with bronchial asthma randomly selected from among the asthmatics referred to our department between January and October 1997 were enrolled in the study. Those having analgesic intolerance and bronchial asthma were accepted as group I; patients having only asthma were accepted as group II. A standard questionnaire was completed for all the patients. Physical examination, routine skin prick tests, determination of total IgE levels and blood type, and oral analgesic provocation tests were also performed. RESULTS: The results showed that some allergic conditions were significantly more common in group I (22.7% and 7.8% for food allergy/intolerance [P<0.05], 16.7% and 7.8% for antibiotic allergy, 16.7% and 2.9% for dermographism, 9.8% and 1.0% for metal allergy, and 9.1% and 1.0% for chronic urticaria for groups I and II, respectively [P<0.001]). In addition, the mean of the total IgE level in the serum was higher in group I than group II (77.6 and 53.7 IU/ml; P<0.05), and the cumulative analgesic consumption was more in group I (14.2+/-17.1 and 9.1+/-12.5 boxes; P<0.05). CONCLUSIONS: Dermographism; chronic urticaria; antibiotic, metal, and food allergy; high levels of total IgE; and a high amount of cumulative analgesic consumption may be the conditions accompanying analgesic intolerance in asthmatics.     

IL‐17‐producing CD4+ T cells contribute to the loss of B‐cell tolerance in experimental autoimmune myasthenia gravis

The role of Th17 cells in the pathogenesis of autoantibody‐mediated diseases is unclear. Here, we assessed the contribution of Th17 cells to the pathogenesis of experimental autoimmune myasthenia gravis (EAMG), which is induced by repetitive immunizations with Torpedo californica acetylcholine receptor (tAChR). We show that a significant fraction of tAChR‐specific CD4⁺ T cells is producing IL‐17. IL‐17^ko mice developed fewer or no EAMG symptoms, although the frequencies of tAChR‐specific CD4⁺ T cells secreting IL‐2, IFN‐γ, or IL‐21, and the percentage of FoxP3⁺ T_reg cells were similar to WT mice. Even though the total anti‐tAChR antibody levels were equal, the complement fixating IgG2b subtype was reduced in IL‐17^ko as compared to WT mice. Most importantly, pathogenic anti‐murine AChR antibodies were significantly lower in IL‐17^ko mice. Furthermore, we confirmed the role of Th17 cells in EAMG pathogenesis by the reconstitution of TCR β/δ^ko mice with WT or IL‐17^ko CD4⁺ T cells. In conclusion, we show that the level of IgG2b and the loss of B‐cell tolerance, which results in pathogenic anti‐murine AChR‐specific antibodies, are dependent on IL‐17 production by CD4⁺ T cells. Thus, we describe here for the first time how Th17 cells are involved in the induction of classical antibody‐mediated autoimmunity.     

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12. Using direct sequencing, we screened the Cx26 coding region of affected and nonaffected members from seven ARNSHL families either linked to the DFNB1 locus or in which the ARNSHL phenotype cosegregated with markers from chromosome 13q12. Cx26 mutations were found in six of the seven families and included two previously described mutations (W24X and W77X) and two novel Cx26 mutations: a single base pair deletion of nucleotide 35 resulting in a frameshift and a C-to-T substitution at nucleotide 370 resulting in a premature stop codon (Q124X). We have developed and optimized allele-specific PCR primers for each of the four mutations to rapidly determine carrier and noncarrier status within families. We also have developed a single stranded conformational polymorphism (SSCP) assay which covers the entire Cx26 coding region. This assay can be used to screen individuals with nonsyndromic hearing loss for mutations in the CX26 gene. Hum Mutat 11:387–394, 1998. © 1998 Wiley-Liss, Inc.