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Biomedical subjects

John E McClay

Publications and source records attributed to John E McClay.

7 recordsLinked to original sources

Four mutations in Epidermodysplasia verruciformis 1 (EVER1) gene are not contributors to susceptibility in RRP.

OBJECTIVE: Epidermodysplasia verruciformis is a skin disease characterized by abnormal susceptibility to human papilloma viruses. Recently four mutations in the Epidermodysplasia verruciformis 1 gene (EVER1, also known as TMC6) have been associated with the disease. Because of the phenotypic similarity between Epidermodysplasia verruciformis and recurrent respiratory papillomatosis, we decided to investigate whether any of these mutations accounts for the susceptibility to human papilloma viruses in subjects with recurrent respiratory papillomatosis (RRP). METHODS: Allele-specific PCR and restriction fragment length polymorphisms (RFLPs) were employed for genotyping a cohort of 101 patients with recurrent respiratory papillomatosis. RESULTS: None of these four mutations were found in the studied subjects. CONCLUSION: The absence of these mutations in RRP patients might indicate that EVER 1 alleles are not associated with susceptibility to RRP, or that other, as yet unidentified, mutations in the Epidermodysplasia verruciformis 1 gene, might account for the susceptibility to RRP.

Female↗

Antibiotic therapy for nontuberculous mycobacterial cervicofacial lymphadenitis.

OBJECTIVES/HYPOTHESIS: To evaluate the efficacy of antibiotic treatment of nontuberculous mycobacterial (NTM) cervicofacial lymphadenitis, both as an alternative and as adjuvant to surgical excision. STUDY DESIGN: Retrospective chart review of pediatric patients with NTM cervicofacial lymphadenitis treated from January 1993 to November 2003 at an academic tertiary care children's hospital. METHODS: Fifty-five patients (age range, 15 mo-16 y) with the diagnosis of NTM cervicofacial lymphadenitis by fine-needle aspiration biopsy that had 1) lymph node culture positive for an atypical mycobacteria, 2) histological findings consistent with mycobacterial infection (granulomas) with negative bartonella serological titers, 3) histological stain positive for the presence of acid-fast bacillus in the absence of tuberculous infection, or 4) positive Mantoux tuberculin skin test result with a negative finding on polymerase chain reaction for tuberculous mycobacteria. Clinical response was defined as complete or partial resolution of skin changes and palpable lymphadenopathy in response to antibiotic therapy consisting of macrolide therapy alone or in combination with other anti-mycobacterial pharmaceuticals. RESULTS: Of the 55 children studied, 45 of 55 (82%) with both single and multiple lesions underwent a trial of medical therapy, and 30 of 45 lesions (67%) ranging in size from 1 x 1 to 6 x 5 cm achieved resolution without surgical excision. Of the other 15 patients treated initially with medical therapy, 6 of 15 (40%) responded well to a course of antibiotic therapy before undergoing surgical excision, and 7 of 15 (47%) patients were nonresponsive to antibiotic therapy and required surgical excision to resolve the neck mass. The remaining 2 of 15 patients (13%) proceeded to surgery only after a course of antibiotics of 3 weeks or less. Ten of the 55 patients (18%) underwent surgical excision initially, with 5 of 10 patients (50%) receiving postoperative antibiotics for treatment of residual disease or prevention of recurrence. CONCLUSION: Some NTM cervicofacial lymphadenitis infections appear to respond to medical therapy alone. A trial of antibiotic therapy might be considered in patients with NTM cervicofacial lymphadenitis before surgical excision or as an adjuvant to surgical excision.

Adolescent↗

Intravenous antibiotic therapy for deep neck abscesses defined by computed tomography.

OBJECTIVE: To determine the effectiveness of using intravenous antibiotics alone to treat clinically stable children with clearly defined deep neck abscesses diagnosed by contrast-enhanced computed tomography (CT). DESIGN: Retrospective chart and CT scan review. SETTING: Tertiary care children's hospital. PATIENTS: The study comprised clinically stable pediatric patients who presented with signs and symptoms of a deep neck infection and who had CT scans demonstrating an abscess in the parapharyngeal space, retropharyngeal space, or both that included (1) a well-formed ring enhancement around a nonenhancing density consistent with fluid and (2) a size greater than 1 cm in every dimension. MAIN OUTCOME MEASURES: Clinical resolution of the signs and symptoms of the deep neck abscess after treatment with intravenous antibiotics. RESULTS: Over a 22-month period (May 1999 to March 2001), 11 children ranging in age from 4 months to 16(1/2) years who had contrast-enhanced CT evidence of deep neck abscess and no clinical evidence of severe symptoms or significant airway compromise were initially treated with intravenous antibiotics. Ten (91%) of the 11 children responded to intravenous antibiotic therapy as their only treatment. All 10 responders began to improve clinically by 48 hours. The symptoms resolved in 5 children by treatment day 3. Five to 8 days of treatment were required to completely resolve the symptoms in the other 5 patients. The 1 child who did not respond to intravenous antibiotic therapy underwent surgical drainage of her deep neck abscess within 12 hours of admission, with purulence discovered at the time of surgery. CONCLUSION: In a select number of clinically stable children, deep neck abscesses diagnosed on contrast-enhanced CT scans using strict radiographic criteria can be effectively treated with intravenous antibiotics alone.

Abscess↗

Laryngeal duplication cyst.

Benign congenital laryngeal cysts are rare. Infants and children with these lesions can present with chronic or intermittent airway obstructive symptoms, hoarseness, aspiration, chronic cough, or failure to thrive. The most common congenital laryngeal cysts include saccular cysts, laryngoceles, and ductal cysts. Other more unusual laryngeal lesions, such as hamartomas, choristomas, and teratomas, can also present with these symptoms. We describe a unique congenital cyst that arose in continuity with the larynx in a child with hoarseness and intermittent stridor. The features of this lesion are similar to those of bronchogenic duplication cysts of the trachea, but with histopathological features of the larynx.

Abnormalities, Multiple↗

Major and minor temporal bone abnormalities in children with and without congenital sensorineural hearing loss.

OBJECTIVE: To determine the extent of correlation between sensorineural hearing loss (SNHL) and abnormal temporal bone anatomy in children. DESIGN: Axial and coronal high-resolution computed tomographic scans of the temporal bones of 247 children (494 ears) aged 2 months to 15 years with and without SNHL were blindly reviewed. The presence or absence of mild or severe cochlear dysplasias, vestibular dysplasias, and an enlarged vestibular aqueduct (VA) were recorded. The width of the VA was measured. The height, width, and length of the internal auditory canal (IAC) were measured, and abnormalities were described as narrow, widened, or bulbous. Clinical information was then reviewed to determine the presence or absence of a congenital syndrome and/or SNHL, and historical factors that might be responsible for SNHL. MAIN OUTCOME MEASURE: The relationship between radiographic findings and SNHL. RESULTS: One hundred thirteen patients (185 ears) had SNHL. Significant abnormal temporal bone anatomy in children with vs without SNHL included major cochlear and vestibular dysplasias (17% vs 0%; P<.001), enlarged VA (>2 mm) (5% vs 0%; P<.001), and narrow IAC (< or =2 mm) (4% vs 1%; P=.03). The average IAC width (4.85 vs 5.02 mm), height (4.39 vs 4.62 mm), and length (11.22 vs 11.44 mm) were not statistically different between children with vs without SNHL. In children with vs without SNHL, neither a widened (0.5% vs 3.6%) nor a bulbous (9% vs 8%) IAC was seen more often in children with SNHL. In ears with SNHL, the presence of a congenital syndrome significantly increased the risk of cochlear and vestibular abnormalities of the temporal bone (45% vs 14%; P<.001), including IAC abnormalities (30% vs 2%;P<.001), which overall were more commonly seen in children with (20%) vs without (3%) a congenital syndrome regardless of the presence of SNHL. No children with an enlarged VA had a congenital syndrome. CONCLUSIONS: Well-established temporal bone abnormalities such as cochlear and vestibular abnormalities and a grossly enlarged vestibular aqueduct are significantly found in children with SNHL. A narrow IAC is found more often in children with vs without SNHL. No significant correlation is found between SNHL and radiographic findings of a widened or bulbous IAC. In children with a congenital syndrome, more IAC abnormalities were seen, regardless of the presence of SNHL. In children with SNHL, the presence of a congenital syndrome increases the likelihood of a cochlear or vestibular abnormality.

Adolescent↗

Clinical presentation of allergic fungal sinusitis in children.

OBJECTIVE: To compare the differences in the clinical and radiographic presentation of allergic fungal sinusitis in children and adults. STUDY DESIGN: Retrospective chart and computed tomography review. METHODS: The settings included a tertiary care children's hospital, adult academic private hospital, and academic affiliated county hospital. All patients with documented allergic fungal sinusitis who underwent computed tomography evaluation and had surgical treatment of their disease from 1988 to 1999 were included in the study. In total, 151 patients aged 5 to 75 years; 44 of these patients were less than or equal to 17 years of age (children) and 107 were greater than 17 years of age (adults). Main outcome measures included 1) the presence of obvious bony facial abnormalities on presentation, 2) bilateral or unilateral sinus disease on presentation, 3) the presence of asymmetrical disease on presentation, 4) the presence of bony extension on computed tomography scan, and 5) type of fungus present. RESULTS: Fifteen of 36 (42%) pediatric patients and 10 of 103 (10%) adult patients had obvious alteration of their facial skeleton (proptosis, telecanthus, or malar flattening) on presentation (P <.05). Proptosis was the most common facial abnormality in both groups and was seen more often in children (8 of 36 [22%]) than in adults (9 of 103 [9%]) (P <.05). Twenty-eight of 40 (70%) pediatric patients and 37 of 100 (37%) adult patients presented with unilateral sinus disease (P <.05). Thirty-five of 40 (88%) pediatric patients and 58 of 100 (58%) adults presented with asymmetrical disease (P <.05). Computed tomography scans showed that 10 of 40 (25%) pediatric patients and 23 of 100 (23%) adult patients had bony erosion with extension of disease into surrounding structures (P >.05). Cultures from both adults and children showed mainly Bipolaris and Curvilaria species in equal amounts (P >.05). Adults had a greater incidence of Aspergillus species. CONCLUSIONS: Presentation in pediatric patients with allergic fungal sinusitis is different from that in adults, with children having obvious abnormalities of their facial skeleton, unilateral sinus disease, and asymmetrical disease more often. Findings on computed tomography scan show an equal amount of bony erosion with extension of disease. The types of fungus cultured in the sinus cavities are similar in both groups.

Adolescent↗