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Biomedical subjects

M D Poole

Publications and source records attributed to M D Poole.

At least 37 records · Page 2Linked to original sources
PubMed1996

Vertical orbital dystopia.

Many pathologic processes may lead to vertical orbital dystopia. We reviewed 47 consecutive cases seen over a 13-year period. Twenty-nine patients underwent eye leveling procedures to improve cosmesis, 2 of these by camouflage procedures and 27 by orbital translocation. Ten patients had 16 secondary operations. There was one death, serious complications occurred in 3 patients, and nuisance complications occurred in 20 others. Seven patients developed diplopia postoperatively, and in 6 patients it was troublesome. In these, it resolved fully in 2 patients, improved to be of no consequence in 2, and in the remaining 2 troublesome symptoms persisted requiring inferior oblique muscle recession in 1. Binocular vision was never restored when not present preoperatively, and in 3 patients temporary loss occurred. There was an overall modest but significant improvement in appearance after surgery. It is concluded that vertical orbital translocation is rewarding and worthwhile.

Abnormalities, Multiple↗
PubMed1996

Timing of hard palatal closure: a critical long-term analysis.

The controversy about timing of cleft palate surgical procedures is focused on early palatoplasty for improved speech versus delayed hard palate repair for undisturbed facial growth. Timing and technique of palate repair are the most important influences on speech and facial growth, yet there is no consensus on the age or technique for surgery. The Oxford Cleft Palate Study was initiated to evaluate critically the long-term follow-up of 44 patients with early versus late closure of the hard palate. A multidisciplinary approach was used to determine the incidence of speech deficiencies, palatal fistulas, maxillofacial growth disturbances, and hearing abnormalities and to assess objectively the long-term effects of two different treatment modalities on the cleft palate patient. The 44 patients were selected randomly, interviewed, and examined by the multidisciplinary Oxford Cleft Palate Study team. The average age at follow-up in the early closure group was 17.0 years versus 18.2 years in the late closure group. There was a similar number of unilateral and bilateral clefts in both the early and late closure groups. The hard palate was closed in the early group at an average age of 10.8 months versus 48.6 months in the late closure group. All operative procedures in each group were performed by the same senior plastic surgery consultant. Both consultants have since retired and did not participate in the study. Each patient was evaluated by the same plastic surgeon, speech pathologist, orthodontist, and otologist. All examiners were blinded in that they were unaware of the type or timing of the surgical technique and had no prior knowledge of or access to the patient's medical records. Furthermore, none of the examiners participated in the initial care and surgery of these patients. Statistically significant greater speech deficiencies were noted with delayed hard palate closure, especially in articulation, nasal resonance, intelligibility, and substitution pattern assessment (overall intelligibility, p < 0.01). Likewise, the persistent palatal fistula rate in the late closure group was 35 percent in comparison with 5 percent for the early closure group (p <0.02). No significant differences in hearing or maxillofacial growth impairment were delineated in either group. Our data suggest that delaying hard palate closure results in significant speech impairment without a beneficial maxillofacial growth response.

Adolescent↗
PubMed1996

Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

Apert syndrome is a distinctive human malformation characterized by craniosynostosis and severe syndactyly of the hands and feet. It is caused by specific missense substitutions involving adjacent amino acids (Ser252Trp or Pro253Arg) in the linker between the second and third extracellular immunoglobulin domains of fibroblast growth factor receptor 2 (FGFR2). We have developed a simple PCR assay for these mutations in genomic DNA, based on the creation of novel (SfiI) and (BstUI) restriction sites. Analysis of DNA from 70 unrelated patients with Apert syndrome showed that 45 had the Ser252Trp mutation and 25 had the Pro253Arg mutation. Phenotypic differences between these two groups of patients were investigated. Significant differences were found for severity of syndactyly and presence of cleft palate. The syndactyly was more severe with the Pro253Arg mutation, for both the hands and the feet. In contrast, cleft palate was significantly more common in the Ser252Trp patients. No convincing differences were found in the prevalence of other malformations associated with Apert syndrome. We conclude that, although the phenotype attributable to the two mutations is very similar, there are subtle differences. The opposite trends for severity of syndactyly and cleft palate in relation to the two mutations may relate to the varying patterns of temporal and tissue-specific expression of different fibroblast growth factors, the ligands for FGFR2.

Acrocephalosyndactylia↗
PubMed1995

Orbital floor fractures in young children.

Isolated orbital floor fractures in children before the end of the 7th year of life are said to seldom occur. This is thought to be due to differences in anatomy from adults in that the maxillary sinus is developing and the orbit is still increasing in size. Two cases of isolated orbital floor fractures in children aged less than 8 years are reported, their management discussed, and the literature reviewed.

Child↗
PubMed1995

Hemifacial hypoplasia and hypomelanosis of Ito.

We present three cases of hemifacial hypoplasia associated with hypomelanosis of Ito. The facial deformity is often severe with marked soft tissue shortage and underlying skeletal hypoplasia posing difficulty in reconstruction. The external ear is relatively uninvolved, although a degree of hypoplasia is usually present. The hallmark of hypomelanosis of Ito is linear depigmentation of skin often associated with asymmetric abnormalities. It is a heterogenous disorder due to chromosomal mosaicism, but cytogenetic confirmation of the diagnosis may be difficult. The relationship between mosaicism and anatomical asymmetry is discussed.

Abnormalities, Multiple↗
PubMed1995

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

Apert syndrome is a distinctive human malformation comprising craniosynostosis and severe syndactyly of the hands and feet. We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. Crouzon syndrome, characterized by craniosynostosis but normal limbs, was previously shown to result from allelic mutations of the third Ig domain of FGFR2. The contrasting effects of these mutations provide a genetic resource for dissecting the complex effects of signal transduction through FGFRs in cranial and limb morphogenesis.

Acrocephalosyndactylia↗
PubMed1995

Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

Craniosynostosis, which affects approximately 1 in 2000 children, is the result of the abnormal development and/or premature fusion of the cranial sutures. Studies of mutations in patients with craniosynostosis have shown that the family of fibroblast growth factor receptor genes are extremely important in the correct formation of the skull, and digits. Mutations in the third immunoglobulin domain of fibroblast growth factor receptor 2 (FGFR2), in part of the molecule corresponding to a tissue specific isoform (IIIc), can cause both Crouzon and Pfeiffer syndromes. Two specific mutations in the linking region between the second and third immunoglobulin domains of FGFR2 occur in Apert syndrome. We present here mutations associated with the Crouzon syndrome, also in the third immunoglobulin domain but in an upstream exon. This exon is expressed in both tissue isoforms. Five different mutations were detected in 11 unrelated individuals. A cysteine to phenylalanine change was found in six individuals. This cysteine forms half of the disulphide bridge maintaining the secondary structure of the immunoglobulin domain. The first deletion within an FGFR gene is reported. Together with mutations in exon IIIc these account for 25 mutations out of 40 Crouzon patients studied in our combined series (5).

Amino Acid Sequence↗
PubMed1995

Otitis media complications and treatment failures: implications of pneumococcal resistance.

Classic complications of untreated otitis media include meningitis, lateral sinus thrombosis and chronic suppurative otitis media. In the past, in countries where otitis media is usually treated, complications have been rare, because of the good activity of almost all orally administered antibiotics against the most common cause of complications, Streptococcus pneumoniae. Treatment failures were usually caused by beta-lactamase-producing nontypable Haemophilus influenzae or by Moraxella (Branhamella) catarrhalis and were rarely associated with serious systemic infections. With the advent of multidrug-resistant pneumococci, however, serious and fatal infections can occur in the face of our most potent antimicrobial agents. The consequences of the emergence of multidrug-resistant pneumococci are likely to include more persistent purulent otitis media, increased usage of broad-spectrum antibiotics, an increase in surgical treatment rates for otitis media and, eventually, an increase in suppurative complications of otitis media. Medical treatment failures probably already surpass eustachian tube dysfunction as the most common reason for tympanostomy tube insertion. Multidrug-resistant pneumococci may be expected to change the way in which primary and secondary care is currently administered.

Child↗
PubMed1995

Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families.

We describe three families segregating different reciprocal chromosome translocations, t(7;18)(p21.2;q23), t(2;7)(q21.1;p21.2), and t(5;7)(p15.3;p21.2). A total of seven apparently balanced carriers have been identified and all manifest features of the Saethre-Chotzen syndrome, although only two have overt craniosynostosis. In one family the carriers are immediately recognisable by their unusual ears, and clefts of the hard or soft palate are present in all three families. These observations extend previous linkage and cytogenetic evidence that a locus for Saethre-Chotzen syndrome resides in band 7p21.2.

Acrocephalosyndactylia↗
PubMed1994

Fronto-orbital re-operation in craniosynostosis.

The need for fronto-orbital re-advancement is reported from all cases of craniosynostosis operated on in the Birmingham and Oxford Craniofacial Units since 1979. Analysis of the 219 cases demonstrates a significantly higher re-operation rate in cases of syndromal craniofacial dysostosis or unilateral coronal synostosis initially operated on below the age of 6 months. Mild bicoronal, sagittal and metopic synostotic cases, however, did uniformly well with the timing of initial surgery having little influence on the re-operation rates.

Age Factors↗
PubMed1994

Preoperative difficulties in differentiating intraosseous meningiomas and fibrous dysplasia around the orbital apex.

Intraosseous meningiomas and fibrous dysplasia affecting the roof and apex of the bony orbit may be successfully treated using craniofacial techniques. Although both are usually benign conditions, meningiomas require complete excision to prevent recurrence whereas symptomatic and cosmetic correction of fibrous dysplasia may be achieved with partial removal only in the absence of progressive disease. Differentiating the two conditions is therefore important. Errors in diagnosis due to an excessive reliance on diagnostic imaging have occurred on three occasions in this series of 25 patients. This review evaluates the clinical and investigational features that are most helpful in differentiating the two conditions.

Adolescent↗
PubMed1993

Surgical caution with Carpenter's syndrome.

Carpenter's syndrome is a relatively rare craniofacial deformity which will occasionally present to craniofacial surgeons for treatment. Some abnormal anatomical features encountered in two cases which led to unexpected severe intraoperative blood loss are described.

Acrocephalosyndactylia↗