Biomedical subjects
Publications and source records attributed to M D Poole.
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.
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.
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).
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.
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.
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.
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During mid-face advancement and correction of orbital dystopia, the infraorbital nerves are always stretched and displaced by the orbital floor osteotomies and bone displacement, and are at risk of damage. We have found no published work that has investigated the function of the infraorbital nerves following elective craniofacial procedures. In this study the cheek sensation and tooth sensibility in 20 patients who have had either mid-face advancement or correction of orbital dystopia was assessed. The function of the infraorbital nerve is largely undisturbed by the osteotomies and bone displacement performed during these procedures. A small proportion of patients could not feel cold in their anterior maxillary teeth, suggesting that there is damage to the anterior superior alveolar nerve branch of the infraorbital nerve.
An experimental study in rats was designed to see whether the pericranium, used as a graft over the dura, can prevent or delay osseous reunion after craniectomy. A 10 x 3-mm section of the frontal and parietal bones, including the coronal suture line, was resected in 15 rats. Pericranium was then used as a free graft on one-half of the defect to cover the dura and separate it from the cut edges of the craniectomy. The other side acted as a control. All animals were killed 2 months after operation, the skull was removed, and any remaining bony defect on either side of the midline was revealed. The area of residual defect in 13 specimens was determined by statistical image analysis using the Oxford Modular Cataract Image Analysis System (Oxford, England) and Wilcoxon's rank sum test and showed a highly significant difference between the treated and the untreated sides (p = 0.002).
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Twelve patients have been reviewed at least 2 years after gracilis muscle transfer, preceded by crossface nerve grafting, for complete unilateral facial palsy. Levels of satisfaction among the patients were good. Examination showed all had voluntary movement of the graft which could produce reasonable mouth symmetry in most patients. However, the involuntary spontaneity and expressive movements were not so satisfactory, though still worthwhile. The technique and some lessons learned from this experience are discussed. It appears from electromyographic studies that continuing innervation and activity can occur in these grafts for many years postoperatively.
Chronic cough is a side effect of the angiotensin-converting enzyme (ACE) inhibitor class of antihypertensives. The cough is thought to be a result of inhibition of the enzymes that break down some of the mediators of inflammation, such as the bradykinins and tachykinins. We report 20 patients with chronic cough caused by ACE inhibitors and some of the characteristics of the cough. The cough is typically dry, nonproductive, and worse at night. Interference with sleep is common and was severe in three patients. Women outnumbered men in this series: urinary stress incontinence developed in five, rectal and vaginal prolapse developed in one. Three patients felt they were incapacitated by the cough. Most had been on multiple medications; only oxycodone was reported to be effective in controlling the cough, and four patients thought they were addicted to that. All coughs resolved with withdrawal of the ACE inhibitor. Chronic cough is common among individuals taking ACE inhibitors. It may be severe and associated with complications. The incidence and potential severity is understated in drug information sources, and patients and physicians often fail to recognize cough as a drug side effect.
A patient with a Tessier No. 4 cleft and an associated bifid nasolacrimal system is presented and considered within the Tessier classification of craniofacial clefting. Previous accounts of nasolacrimal abnormalities associated with facial clefts are reviewed together with the accepted developmental embryology. It is proposed that the bifid nasolacrimal duct system described constitutes a new addition to the literature.
Six patients are presented with facial asymmetry including vertical orbital dystopia in association with torticollis. All six have also had other abnormalities. Some degree of hemifacial microsomia was present in five of the six, a so-called plagiocephalic or rhomboid skull with normal cranial sutures in four of the six, and cervical spine anomalies in four of the six. Other deformities have also been noted. The condition is best named the cranio-facio-cervical scoliosis complex. The implications for treatment of the facial asymmetry, in particular the unequal levels of the orbits in the established deformity, are discussed and a surgical plan which has been used in four patients described.