Fibroblast growth factor receptors are expressed in craniosynostotic sutures.
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Cranial Sutures↗
Biomedical subjects
B M Jones
Publications and source records attributed to B M Jones.
Occipital plagiocephaly: an epidemic of craniosynostosis?
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Craniofacial Dysostosis↗
The cervical spine in Crouzon syndrome.
STUDY DESIGN: All cervical spine radiographs of 44 patients with Crouzon syndrome treated at Great Ormond Street Hospital during the past 10 years were studied. OBJECTIVES: To assess the incidence and pattern of cervical spine abnormalities of patients with a confirmed diagnosis of Crouzon syndrome, but particularly regarding progressive fusion. SUMMARY OF BACKGROUND DATA: Previous studies into the cervical spine anomalies in those with Crouzon syndrome have shown an increased incidence of congenital abnormalities compared with the normal population. There is some suggestion from previous studies that cervical spine fusions are progressive in nature. METHODS: All radiographs were reviewed by the craniofacial team, along with a single pediatric radiologist with experience in assessment of skeletal dysplasias. RESULTS: Radiologic abnormalities included "butterfly" vertebrae and fusions of the bodies and the posterior elements. Evidence of fusion was present in eight of 44 (18%) of patients. C2-C3 and C5-C6 were almost equally affected. Block fusions involving multiple vertebrae were seen. Analysis of sequential studies in 16 patients showed evidence of progression in five. CONCLUSIONS: These results reveal an incidence of fusions that is lower than reported previously. There is radiologic evidence from serial studies that the fusions are progressive, and because these patients are children, the fusion process may not be complete, which may account for the lower incidence of fusions than in previous studies. The pattern of fusions is different from that in earlier studies, which may be a result of the method of diagnosis because this population is less likely to include atypical forms of other syndromes (which have a higher incidence of cervical fusions, particularly at C2-C3). Regarding other congenital anomalies, it appears that butterfly vertebrae are especially prevalent in association with Crouzon syndrome.
Cervical Vertebrae↗
Hand anomalies in Crouzon syndrome.
OBJECTIVE: To review the hand radiographs of patients with Crouzon syndrome, to look for extracranial manifestations of the condition at this site. DESIGN: The hand radiographs of those with Crouzon syndrome attending the Craniofacial Service at Great Ormond Street between 1985 and 1996 were reviewed. RESULTS: Thirty-three patients underwent a total of 34 radiographs, one patient having had a serial study. This revealed a range of minor anomalies. Most striking was the presence of carpal fusions in four cases, a feature which has not previously been reported. CONCLUSION: The hands of Crouzon syndrome may have anomalies including carpal fusions, and these results are evidence that the condition may produce subtle effects on the hands.
Adolescent↗
Anomalous venous drainage in a case of non-syndromic craniosynostosis.
The authors describe the clinical and radiological findings in a case of non-syndromic craniosynostosis affecting multiple sutures, in which the intracranial venous drainage was grossly anomalous. Investigation by magnetic resonance imaging and angiography revealed that almost all of the intracranial venous blood was draining from the dural sinuses transosseoussly via enlarged emissary veins to the external jugular veins and the vertebral veins. Although present, both internal jugular veins were small. This discovery represented a contraindication for the vault expansion surgery that had been recommended as treatment for the patient's raised intracranial pressure, and it has important implications for the management of all types of craniosynostosis.
Cerebral Angiography↗
Facial palsy following trauma to the external ear: 3 case reports.
We report two children and a young adult who developed unilateral facial palsy shortly after injury to the external ear. In two instances the paralysis followed a prominent ear correction and in the other a laceration to the concha. The trauma-triggered facial palsy was most likely idiopathic although the anatomy of the facial nerve near the ear leads one to speculate on a possible pathway of a virally induced palsy (Bell's palsy). Each patient recovered over a period of 6 months.
Adult↗
Clinical trial of induced hypothermia in comatose survivors of out-of-hospital cardiac arrest.
STUDY OBJECTIVE: To examine the effects of moderate hypothermia (33 degrees C), induced by surface cooling in the ED and maintained for 12 hours in the ICU, on patients with anoxic brain injury after out-of-hospital cardiac arrest. METHODS: We conducted the study in a teaching hospital in Melbourne, Victoria, Australia. Participants were 22 adults who remained unconscious after return of spontaneous circulation following out-of-hospital cardiac arrest. This treatment group was studied prospectively, and a control group of 22 similar patients was studied by retrospective chart review. Moderate hypothermia (33 degrees C) was induced in the ED by means of surface cooling and maintained for 12 hours in the ICU with rewarming to normothermia over 6 hours; control patients were maintained at normothermia. RESULTS: There were no significant adverse effects of induced hypothermia. Cardiovascular changes included decreased pulse rate, but there were no significant differences in mean arterial blood pressure between the two groups. Small increases in serum potassium and decreases in pH at 18 hours in the hypothermic patients compared with normothermic controls were of no clinical significance. There were no septic complications. There was a significant increase in the number of patients with good outcome (Glasgow Outcome Coma Scale category 1 or 2) with induced hypothermia (11 of 22, versus 3 of 22 for normothermic controls; P<.05), and the mortality rate was significantly lower (10 of 22 versus 17 of 22; P<.05). CONCLUSION: Compared with historical normothermic controls, outcome was significantly improved and there was no increase in complications when moderate hypothermia was induced in comatose survivors of out-of-hospital cardiac arrest and maintained for 12 hours. Larger, prospective, randomized, controlled studies of induced moderate hypothermia in comatose survivors of out-of-hospital cardiac arrest are warranted.
Aged↗
New classification for the hand anomalies in Apert's syndrome.
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Acrocephalosyndactylia↗
The determination of phospholipase A2 enzyme activity in the vaginal secretions of pregnant and non-pregnant women with bacterial vaginosis-and in culture exudates of its causative organisms.
Bacterial vaginosis (BV) is presently being cited as a probable cause of premature labour, where it is thought that an abnormal excess of phospholipase A2 enzyme (PLA2 ), generated by infecting organisms, prematurely liberates prostaglandins, which trigger-off the labour process. PLA levels of pregnant and non-pregnant women, with and without BV infection were compared. The in vitro concentrations of PLA2 in broth cultures of infecting organisms were also measured. Mean PLA2 level in non-infected pregnant women was 777 units per mg but was raised to 1226 U/mg in those with BV ( P= <0.001). Mean level in non-infected normal women was 21 U/mg, but was raised to 97 U/mg in those having BV ( P= <0.001). PLA2 concentrations in broth cultures of the causative organisms showed that most Bacteroides strains produced the enzyme, having a mean concentration of 95 U/mg, but that it was generated by only 34% of Gardnerella vaginalis strains, their mean concentration being 32 U/mg.
Journal Article↗
Knee radiographs in Pfeiffer and Crouzon syndromes.
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Acrocephalosyndactylia↗
Penicillium marneffei infection in a non-HIV infected child.
We report a case of Penicillium marneffei infection in a previously healthy 3.5 years-old Chinese boy and review the literature. The details of the case are described with emphasis on his immune function and treatment outcome. This boy had transient immunodeficiency involving phagocytic and NK cells due to P. marneffei infection which resolved after treatment with gamma interferon and amphotericin B. A prolonged course of fluconazole of 1 year was successful in preventing relapse. Gamma interferon, amphotericin B and a prolonged course of fluconazole may be useful in the treatment of life-threatening infection by P. marneffei.
Antifungal Agents↗
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
Several mutations involving the fibroblast growth factor receptor (FGFR) gene family have been identified in association with phenotypically distinct forms of craniosynostosis. One such point mutation, resulting in the substitution of proline by arginine in a critical region of the linker region between the first and second immunoglobulin-like domains, is associated with highly specific phenotypic consequences in that mutation at this point in FGFR1 results in Pfeiffer syndrome and analogous mutation in FGFR2 results in Apert syndrome. We now show that a much more variable clinical presentation accompanies analogous mutation in the FGFR3 gene. Specifically, mental retardation, apparently unrelated to the management of the craniosynostosis, appears to be a variable clinical consequence of this FGFR3 mutation.
Acrocephalosyndactylia↗
What is normal vaginal flora?
OBJECTIVE: To observe the composition of the vaginal flora of healthy women over time, and in relation to hormonal changes, sexual activity, and hygiene habits. DESIGN: A longitudinal surveillance of the vaginal flora over an eight week period. SUBJECTS: 26 female health care workers in local genitourinary medicine clinics. METHODS: The participants were anonymised. They filled in diary cards daily. Blind vaginal swabs were self-taken two-seven times weekly. A smear was air-dried for later Gram staining. The swabs were also cultured for Candida spp, Gardnerella vaginalis, anaerobes, Mycoplasma hominis and Ureaplasma urealyticum. RESULTS: Of 26 subjects, only four had normal vaginal microbiology throughout. One woman, who was not sexually active, had bacterial vaginosis (BV) throughout and nine (35%) had intermittent BV. Candidiasis was found intermittently in eight women (31%), and eight had normal microscopy. U urealyticum was isolated intermittently in 40% of women with BV, 25% with candida, and 50% with normal microscopy. Many women were symptomatic, but symptoms correlated poorly with microbiological findings. All but two women were sexually active; however, more women with BV were exposed to semen. BV seemed to be related to frequent use of scented soap, and there appeared to be an additive effect of clothing and hygiene factors. CONCLUSIONS: Our study raises doubts about what should be regarded as normal vaginal flora. It calls into question the significance of finding BV or U urealyticum on a single occasion in asymptomatic women, or of finding normal flora in symptomatic women. The effect of external factors on the vaginal flora deserve further study.
Adult↗
Aetiology of herniation of the hindbrain in craniosynostosis. An investigation incorporating intracranial pressure monitoring and magnetic resonance imaging.
The occurrence and extent of herniation of the hindbrain has been evaluated in a population of children with craniosynostosis by means of magnetic resonance imaging of the craniocervical junction. The role of intracranial pressure (ICP), posterior fossa size and hydrocephalus in the development of this deformity has also been assessed. Magnetic resonance imaging (Siemens Magnetom 1.5T) was reviewed in 27 cases of craniosynostosis in whom there had been no previous cranial vault surgery. The position of the cerebellar tonsils in relation to the plane of the foramen magnum was measured and an index of the size of the posterior fossa relative to the rest of the cranial vault was also calculated for each case. The presence of hydrocephalus (requiring a cerebrospinal fluid diversion procedure) was documented. In 22 of these cases overnight, subdural ICP monitoring using the Camino fibre optic device had also been performed. Herniation of the hindbrain below the plane of the foramen magnum occurred in 10 of 27 cases (37%). The level of ICP showed a significant correlation with the extent of hindbrain herniation (p < 0.001) as did small posterior fossa size (p = 0.0035). Hydrocephalus was present in 4 patients, all of whom had hindbrain herniation. The extent of hindbrain herniation did not correlate with age (p = 0.48). We propose that herniation of the hindbrain in craniosynostosis is a consequence of brain deformation occurring in response to the physical forces imposed by a combination of the anatomical deformity at the skull base and intracranial hypertension rather than a primary malformation of brain development as commonly supposed.
Arnold-Chiari Malformation↗
Consequences of cranial vault expansion surgery for craniosynostosis.
Remodelling the cranial vault in an attempt to increase the intracranial volume and thus control intracranial hypertension, whilst at the same time improving the patient's appearance, has been the mainstay of surgery for syndromic craniosynostosis. We report a case of craniosynostosis in whom cranial vault expansion was followed by the development of hind-brain herniation and hydrocephalus. This prompted a review of our other cases of craniosynostosis who had been evaluated by magnetic resonance imaging following surgery in order to assess the frequency of hind-brain herniation and hydrocephalus in these children. Magnetic resonance imaging had been performed in the postoperative evaluation of 34 cases of craniosynostosis who had undergone procedures intended to increase the intracranial volume. The position of the cerebellar tonsils and the presence or otherwise of hydrocephalus was recorded for all cases. The effectiveness of surgery in treating raised intracranial pressure (ICP) was evaluated by means of postoperative ICP monitoring and had been performed in 22 cases. Herniation of the hind-brain below the level of the foramen magnum was observed in 18 cases (53%). Hydrocephalus, requiring the insertion of a ventriculoperitoneal shunt, was present in 14 cases (41%) and had developed after the cranial vault procedure in 9. The mean sleeping ICP measured postoperatively was normal (<10 mm Hg) in 5, borderline (10-15) in 7, and raised (>15 mm Hg) in 10 cases. Cranial vault expansion in complex craniosynostosis may fail to address the underlying aetiology of intracranial hypertension. Furthermore, both hydrocephalus and hind-brain herniation may develop following such surgery. Neither the increase in intracranial volume afforded by cranial vault expansion nor the shunting of hydrocephalus precludes the persistence of abnormal ICP. These findings are discussed in the light of possible mechanisms, in addition to cephalocranial disproportion responsible for intracranial hypertension in complex craniosynostosis. The implications for the surgical management of complex craniosynostosis are reviewed.
Acrocephalosyndactylia↗
The cervical spine in Saethre-Chotzen syndrome.
Twenty patients with a diagnosis of Saethre-Chotzen syndrome had their cervical spine radiographs reviewed. Radiologic abnormalities including vertebral fusion were present in 9 of the 20 patients. Fusion of both the vertebral bodies and the posterior elements was noted, although the latter site was more common. C2-3 was the level most commonly involved, although other levels were recorded. Analysis of sequential radiographs in nine patients revealed evidence of progression in seven patients. In those studies in children aged under 2 years, only 1 of 18 films showed evidence of fusion, while in those over 2 years of age, 10 of 12 showed evidence of fusion. These results reveal that the incidence of cervical anomalies in Saethre-Chotzen syndrome is greater than that in the general population. There is both direct and indirect evidence that the vertebral fusions are progressive during childhood.
Blepharoptosis↗
Laparoscopic cholecystectomy without operative cholangiogram: 2038 cases over a 5-year period in two district general hospitals.
The place of cholangiography in laparoscopic cholecystectomy is debatable. This retrospective study reviews the outcome of 2061 patients operated upon for symptomatic gallstones in two district general hospitals. Intraoperative cholangiography was not used because all patients were submitted to a policy of selective preoperative investigation of the extrahepatic ducts. The conversion rate to open cholecystectomy was 3.1% and 88% of patients were discharged home within 48 h of surgery. No major duct injuries occurred and only 12 patients have presented with a proven retained stone after operation (0.7%). This policy of preoperative investigation and treatment for extrahepatic bile duct stones without intraoperative cholangiography has been employed in over 2000 patients and is at least as safe as published results using routine intraoperative cholangiography.
Cholangiography↗
Use of CD45 fluorescence and side-scatter characteristics for gating lymphocytes when using the whole blood lysis procedure and flow cytometry.
The light-scatter characteristics of lymphocytes are commonly used to gate lymphocytes for further analysis in a lysed whole-blood assay. Because lymphocytes can be identified by antigens that they possess, a light-scatter gate can be validated by measuring parameters other than light scatter. When a specimen possesses poor light scatter (usually from contaminating nonlymphocytes within the light-scatter gate for lymphocytes), the quality of the gate and, thus, the analyses of lymphocyte subsets can be compromised. We present data to demonstrate the use of CD45 fluorescence combined with side scatter (SSC) for analyzing lysed whole-blood specimens. When we compared CD45/SSC to light scatter (forward and side scatter) for validating a lymphocyte gate, both methods performed similarly in recovering as many lymphocytes as possible in the gate (lymphocyte recovery); however, the CD45/SSC gate had fewer contaminants within the gate (lymphocyte purity). Replicate CD3 values from the CD45/SSC gate were less variable than those from the light-scatter gate, confirming that most of the variability in a light-scatter gate is due to nonlymphocyte contaminants in the gate. We propose that lymphocytes be gated using CD45 fluorescence as well as side-scattering properties and that CD3 also be included in each data analysis tube for quality control.
Acquired Immunodeficiency Syndrome↗