Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.

A 28-year-old female with PIK3CA-related segmental overgrowth presented with headaches. She also had a unilateral vestibular schwannoma (VS), as well as 3 small (<2 cm) meningiomas, which according to the Manchester consensus diagnostic criteria for neurofibromatosis 2 (NF2) is sufficient for a clinical diagnosis. Analysis of blood revealed a mosaic PIK3CA c.2740G>A (p.Gly914Arg) mutation, confirming the diagnosis of PIK3CA-related overgrowth, but no mutations in NF2 were detected. Although VS has not previously been reported in PIK3CA-related segmental overgrowth, meningiomas have, raising the question of whether this patient's VS and meningiomas represent coincidental NF2 or phenotypic extension of her overgrowth syndrome. Genetic analysis of the VS revealed a heterozygous NF2 mutation c.784C>T (p.Arg262Ter) and loss of a portion of 22q, including NF2, SMARCB1, and LZTR1 genes. These results suggest that the patient has 2 different mosaic disorders, NF2 and PIK3CA-related overgrowth. The PIK3CA mutation was also present in the VS. Confirmation of the clinical diagnosis of mosaic NF2 in this patient has implications for monitoring and highlights the possibility of co-occurrence of mosaicism for multiple rare disorders in a single patient.

Hubble Space Telescope Imaging of Neptune's Cloud Structure in 1994.

Images of Neptune taken at six wavelengths with the Hubble Space Telescope in October and November 1994 revealed several atmospheric features not present at the time of the Voyager spacecraft encounter in 1989. Furthermore, the largest feature seen in 1989, the Great Dark Spot, was gone. A dark spot of comparable size had appeared in the northern hemisphere, accompanied by discrete bright features at methane-band wavelengths. At visible wavelengths, Neptune's banded structure appeared similar to that seen in 1989.

HST imaging of atmospheric phenomena created by the impact of comet Shoemaker-Levy 9.

Hubble Space Telescope (HST) images reveal major atmospheric changes created by the collision of comet Shoemaker-Levy 9 with Jupiter. Plumes rose to 3000 kilometers with ejection velocities on the order of 10 kilometers second-1; some plumes were visible in the shadow of Jupiter before rising into sunlight. During some impacts, the incoming bolide may have been detected. Impact times were on average about 8 minutes later than predicted. Atmospheric waves were seen with a wave front speed of 454 +/- 20 meters second-1. The HST images reveal impact site evolution and record the overall change in Jupiter's appearance as a result of the bombardment.

High sensitivity blood-based M-protein detection in sCR patients with multiple myeloma.

We assessed the ability of a mass spectrometry-based technique, called monoclonal immunoglobulin rapid accurate mass measurement (miRAMM), to extend the analytical range of M-protein detection in serum samples obtained from myeloma patients in stringent complete response (sCR) post-autologous stem cell transplant (ASCT). To aid the M-protein detection post ASCT, the accurate molecular mass of the M-protein light chain at diagnosis was determined in all patients (N=30) and used to positively identify clones in the sCR serum. Day 100 post-ASCT, sCR samples had miRAMM identifiable M-proteins in 81% of patients. Patients who had achieved only a partial remission (PR) pre-ASCT and those with IgG isotypes serum samples had the highest rate of M-protein detection by miRAMM. miRAMM positivity at single time points (day 100, 6 months or 12 months) did not correlate with progression-free survival (PFS). In contrast, sCR patients who did not decrease their miRAMM M-protein intensities in serial measurements had shorter PFS than those whose miRAMM intensities decreased (median 17.9 months vs 51.6 months; P<0.0017). miRAMM M-protein is a more sensitive blood-based test than traditional M-protein tests and could cost effectively aid in serially monitoring complete remission for continue response or biochemical relapse.

Presentation of Yersinia enterocolitica enteritis in children.

Yersinia enterocolitica enteritis is a potentially treatable infection. To understand its seasonal incidence and clinical presentation in children, we reviewed case records of children seen in Cardinal Glennon Children's Hospital in St. Louis, MO. We found the incidence of Yersinia enteritis to be as frequent as enteritis caused by Campylobacter. It occurred more frequently during the winter months (P < 0.002) than during the rest of the year. Fever was common in infants with Yersinia enteritis. Abdominal pain and distention were infrequent. Seventeen (35%) patients were 3 months of age or younger; 4 of 17 (28%) developed Yersinia sepsis as a complication of the enteritis. Physicians should perform stool cultures for Y. enterocolitica in young infants who present with high fever and diarrhea in winter months, especially when there is blood in stools or the patient appears septic.

Treatment for abused children: when is a partial solution acceptable?

Physically maltreated children display a range of serious psychological problems. Despite the availability of effective treatment of similar problems in other populations of children, direct psychological treatment of abused children has rarely been reported. It is argued that such direct treatment, while constituting only a "partial solution" to the problem of child abuse, needs to be addressed through research and application.

The effect of functional appliances on the skeletal pattern.

The findings of some 26 papers covering the results of Andresen and Fränkel appliances, as analysed from cephalometric radiographs, are reviewed. These findings show a high degree of consistency. They have been combined to produce larger samples, and compared with a control group produced from reports of untreated Class II division 1 individuals, with consequent gains in statistical significance. Generally, there is no appreciable holding back of maxillary advancement in either group (although a slight relative reduction in the angle SNA). There is a slight mean increase in mandibular growth, mainly in a vertical direction. This seems similar to that reported by several authors in conventional appliances. There is a wide variation in response.

A clinician looks at facial growth.

George Northcroft, whom this Lecture seeks to honour, was, in his day, one of the leading dentists of this country and was internationally renowned. He founded the British Society for the Study of Orthodontics, and was its second President. Perhaps his most lasting contribution was one of his few publications, his contribution to the volume of Dental Board lectures which were published under the title The Growth of the Jaws, Normal and Abnormal, in Health and Disease. He clearly understood the importance to the practising orthodontist of a knowledge of facial growth, a belief which I share. The purpose of this paper is therefore to attempt to summarize and comment upon present knowledge and belief on this subject.

The place of research in orthodontic education.

I would suggest, therefore, that an initial academic qualification in orthodontics should be a Master's degree which should essentially be a clinical qualification, at a somewhat higher standard than the Royal Colleges' diplomas, but that it should include a research element of reasonable proportions. For the intending university teacher, a higher research degree will in future be essential and the obvious one is that of Doctor of Philosophy. This involves carrying out a piece of research which will make a contribution to knowledge, and the work is necessarily supervised by an experienced colleague. It is the standard method for learning about research, and like most things in life, research does have to be learnt, it is not an inborn capability. It may be that there is a place for a research Master's degree--an M.Phil. In London University, students may be registered for the M.Phil. which may be converted to registration for a Ph.D. if all goes well, but leaves something in hand if the student's work is curtailed. Several of our Senior Registrars have followed this procedure, which would have been useful if they had moved on earlier than expected. This leaves no place for the higher dental degrees: M.D.S. and D.D.S. (or D.D.Sc.). These are not normally supervised which perhaps makes them unsuitable as first research degrees. It may be that there is one degree too many and the M.D.S. should be phased out to leave the Doctor's degree as somewhat akin to the D.Sc. in pure science. Such an idea is not original.

The effect of two contrasting forms of orthodontic treatment on the facial profile.

The purpose of this paper was to compare retrospectively the effect on the soft tissues of two contrasting forms of treatment for Class II, Division 1 malocclusion. The first group of 30 persons exhibited uncrowded dentitions and were treated without extractions by means of the Andresen activator. No other appliance was used. The second group was also composed of 30 persons. These subjects were treated with the Begg appliance in its classical form. All of the Begg subjects showed varying amounts of crowding and were treated by extraction of four first premolars. It was believed that the Andresen appliance would maintain the incisors in the most labial position possible, while the Begg group with premolar extractions would involve the maximum lingual incisal movement. These groups were compared with a third group of 22 untreated persons who also exhibited Class II, Division 1 malocclusions. The overjets in the treated groups were successfully reduced in both cases by retraction of the upper incisors; in the Begg group only, retraction of lower incisors was also performed. The upper incisors were retracted substantially more in the Begg group than in the Andresen group, but there was only a slight difference within the two groups in the final position of the upper lip relative to a vertical reference line through sella. There was also a slight difference in the lengths of upper and lower lips within the two treated groups. The lower lip followed the lower incisors more closely in the Begg group. Both upper and lower lips "uncurled" in the treated groups and this probably allowed them to be held together with little strain. There was a wide variation in individual response in all three groups.

Comparison of sex-typed motor behavior in male-to-female transsexuals and women.

Eight presurgical male-to-female transsexuals emitted significantly more feminine behaviors on a validated sex role motor behavior checklist than eight feminine women. Transsexuals also emitted more masculine behaviors than feminine women, although the total number of masculine behaviors in each group was far less than the total number of feminine behaviors. Indications for the management of transsexuals as well as the functions of sex role motor behavior in our society are discussed.