Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management

Craniometaphyseal and craniodiaphyseal dysplasia are rare genetic disorders of bone due to modelling errors of long bones and skull bones. These syndromes present with multiple ENT symptomatology from an early age. The diagnostic distinction can now be made radiologically by serial skeletal survey which is important for prognosis. We review the clinical, radiological, computed tomography (CT) scan, otological, audiological and histopathological findings in two cases with craniodiaphyseal, and two cases with craniometaphyseal dysplasia, and report our experiences of medical and surgical treatment to date. In the craniodiaphyseal dysplasia, the hearing abnormality progressed from an initial conductive to a mixed loss on serial audiometric follow up. Temporal bone CT scans showed narrowing of the middle ear cavity, internal auditory meatus, and facial nerve canal at the geniculate ganglion. Benefits from choanal stenosis surgery, craniofacial remodelling and dacrocystorhinostomy were shortlived. Calcitriol therapy with a low calcium diet did not alter the clinical course of progression in our cases. The underlying defect, causing net bone formation in these phenotypically similar syndromes, appears to be different when based on the differing biochemical responses to calcitriol and bone biopsy findings. Increased numbers of osteoblasts were found in bone biopsies from both cases with craniodiaphyseal dysplasia. Early recognition is crucial in these conditions as therapy directed at the underlying bony defect has the best chance of success if initiated in infancy (Cole et al., 1988; Fanconi et al., 1988; Key et al., 1988)

Parotid haemangiomas in childhood: a case for MRI

Seven infants with unilateral parotid haemangiomas seen at one centre are presented. Their case notes and special investigations an reviewed. Magnetic resonance imaging (MRI) is revealed as the investigation of choice because of picture quality, definition of soft tissues and lack of exposure to ionizing radiation. MRI allows a definite diagnosis to be made without any invasive procedure being required. A future study following up these infants may be of interest because of controversy regarding the spontaneous resolution of these lesions

Impact of a novel home-based exercise intervention on health indicators in inactive premenopausal women: a 12-week randomised controlled trial

Purpose: This study tested the hypothesis that a novel, audio-visual-directed, home-based exercise training intervention would be effective at improving cardiometabolic health and mental well-being in inactive premenopausal women. Methods: Twenty-four inactive premenopausal women (39 ± 10 years) were randomly assigned to an audio-visual-directed exercise training group (DVD; n = 12) or control group (CON; n = 12). During the 12-week intervention period, the DVD group performed thrice-weekly training sessions of 15 min. Training sessions comprised varying-intensity movements involving multiplanar whole-body accelerations and decelerations (average heart rate (HR) = 76 ± 3% HRmax). CON continued their habitual lifestyle with no physical exercise. A series of health markers were assessed prior to and following the intervention. Results: Following the DVD intervention, HDL cholesterol (pre: 1.83 ± 0.45, post: 1.94 ± 0.46 mmol/L) and mental well-being, assessed via the Warwick Edinburgh Mental Well-Being Scale, improved (P 0.05). There were no pre-post intervention changes in any of the outcome variables in the CON group (P > 0.05). Conclusion: The present study suggests that a novel, audio-visual-directed exercise training intervention, consisting of varied-intensity movements interspersed with spinal and lower limb mobility and balance tasks, can improve [HDL cholesterol] and mental well-being in premenopausal women. Therefore, home-based, audio-visual-directed exercise training (45 min/week) appears to be a useful tool to initiate physical activity and improve aspects of health in previously inactive premenopausal women.This article is freely available via Open Access. Click on the Publisher URL to access it via the publisher's site.The study was supported by FIFA-Medical Assessments and Research Centre (F-MARC) and Nordea-fonden (Grant No. 1-ST-P $−$-036-JZ-F1-05858).published version, accepted version (12 month embargo

Thrifty Phenotype vs Cold Adaptation: Trade-offs in Upper Limb Proportions of Himalayan Populations of Nepal

The multi-stress environment of high altitude has been associated with growth deficits in humans, particularly in zeugopod elements (forearm, lower leg). This is consistent with the thrifty phenotype hypothesis, which has been observed in Andeans, but has yet to be tested in other high altitude populations. In Himalayan populations, other factors, such as cold stress, may shape limb proportions. The current study investigated whether relative upper limb proportions of Himalayan adults (n=254) differ between highland and lowland populations, and whether cold adaptation or a thrifty phenotype mechanism may be acting here. Height, weight, humerus length, ulna length, hand length, and hand width were measured using standard methods. Relative to height, total upper limb and ulna lengths were significantly shorter in highlanders compared to lowlanders in both sexes, whilst hand and humerus length were not. Hand width did not significantly differ between populations. These results support the thrifty phenotype hypothesis, as hand and humerus proportions are conserved at the expense of the ulna. The reduction in relative ulna length could be attributed to cold adaptation, but the lack of difference between populations in both hand length and width indicate that cold adaptation is not shaping hands proportions in this case

Brain stem tumors in children less than 3 months: Clinical and radiologic findings of a rare disease

\ua9 The Author(s) 2024.Purpose: Brain stem tumors in children < 3 months at diagnosis are extremely rare. Our aim is to study a retrospective cohort to improve the understanding of the disease course and guide patient management. Methods: This is a multicenter retrospective analysis across the European Society for Pediatric Oncology SIOP-E HGG/DIPG Working Group linked centers, including patients with a brainstem tumor diagnosed between 2009 and 2020 and aged < 3 months at diagnosis. Clinical data were collected, and imaging characteristics were analyzed blindly and independently by two neuroradiologists. Results: Five cases were identified. No patient received any therapy. The epicenter of two tumors was in the medulla oblongata alone and in the medulla oblongata and the pons in three. For patients with tumor in equal parts in the medulla oblongata and the pons (n = 3), the extension at diagnosis involved the spinal cord; for the two patients with the tumor epicenter in the medulla oblongata alone (n = 2), the extension at diagnosis included the pons (n = 2) and the spinal cord (n = 1). Biopsy was performed in one patient identifying a pilocytic astrocytoma. Two patients died. In one patient, autopsy revealed a high-grade glioma (case 3). Three survivors showed either spontaneous tumor regression (n = 2) or stable disease (n = 1). Survivors were followed up for 10, 7, and 0.6 years, respectively. One case had the typical imaging characteristics of a dorsal exophytic low-grade glioma. Conclusions: No patient fulfilled the radiologic criteria defining a high-grade glioma. Central neuroradiological review and biopsy may provide useful information regarding the patient management

Should physical activity recommendations be ethnicity-specific? Evidence from a cross-sectional study of south Asian and European men

Background Expert bodies and health organisations recommend that adults undertake at least 150 min.week−1 of moderate-intensity physical activity (MPA). However, the underpinning data largely emanate from studies of populations of European descent. It is unclear whether this level of activity is appropriate for other ethnic groups, particularly South Asians, who have increased cardio-metabolic disease risk compared to Europeans. The aim of this study was to explore the level of MPA required in South Asians to confer a similar cardio-metabolic risk profile to that observed in Europeans undertaking the currently recommended MPA level of 150 min.week−1.<p></p> Methods Seventy-five South Asian and 83 European men, aged 40–70, without cardiovascular disease or diabetes had fasted blood taken, blood pressure measured, physical activity assessed objectively (using accelerometry), and anthropometric measures made. Factor analysis was used to summarise measured risk biomarkers into underlying latent ‘factors’ for glycaemia, insulin resistance, lipid metabolism, blood pressure, and overall cardio-metabolic risk. Age-adjusted regression models were used to determine the equivalent level of MPA (in bouts of ≥10 minutes) in South Asians needed to elicit the same value in each factor as Europeans undertaking 150 min.week−1 MPA.<p></p> Findings For all factors, except blood pressure, equivalent MPA values in South Asians were significantly higher than 150 min.week−1; the equivalent MPA value for the overall cardio-metabolic risk factor was 266 (95% CI 185-347) min.week−1.<p></p> Conclusions South Asian men may need to undertake greater levels of MPA than Europeans to exhibit a similar cardio-metabolic risk profile, suggesting that a conceptual case can be made for ethnicity-specific physical activity guidance. Further study is needed to extend these findings to women and to replicate them prospectively in a larger cohort.<p></p&gt

Use of conventional and alternative treatment strategies for a case of low back pain in a F/A-18 aviator

BACKGROUND: Low back pain can diminish jet pilot concentration and function during flight and be severe enough to ground pilots or cause decreased flying time. The objective of this case report is to present an example of the integration of chiropractic care with conventional treatments for the management of low back pain in a F/A-18 aviator. CASE PRESENTATION: The patient had insidious severe low back pain without radiation or neurological deficit, resulting in 24 hours of hospitalization. Spinal degeneration was discovered upon imaging. Four months later, it still took up to 10 minutes for him to get out of bed and several minutes to exit the jet due to stiffness and pain. He had discontinued his regular Marine Corps fitness training due to pain avoidance. Pain severity ranged from 1.5–7.1 cm on a visual analog scale. His Roland Morris Disability Questionnaire score was 5 out of 24. The pilot's pain was managed with the coordinated efforts of the flight surgeon, physiatrist, physical therapist, and doctor of chiropractic. Following this regimen he had no pain and no functional disability; he was able to fly multiple training missions per week and exercise to Marine Corps standards. CONCLUSION: A course of care integrating flight medicine, chiropractic, physical therapy, and physiatry appeared to alleviate pain and restore function to this F/A-18 aviator with low back pain