Accelerometer use in young people with Down syndrome: A preliminary cross-validation and reliability study

Background Inadequate physical activity is a problem for people with Down syndrome and objective monitoring using accelerometers may be inaccurate in this population. Method This was a cross-validation and reliability study comparing two triaxial accelerometers (the SenseWear and RT3) to a criterion measure (the OxyCon Mobile) in 10 young people (M age = 20 ± 2) with Down syndrome. A ROC curve analysis was conducted to determine intensity thresholds from RT3 activity counts. Results During self-selected pace walking, the accelerometers overestimated energy expenditure and had large limits of agreement (SenseWear: −0.5–3.6 METs; RT3: −0.2–2.7 METs). At this pace, SenseWear armband step counts were highly correlated with observed steps (r = .98) but underestimated steps by up to 12%. We developed RT3 thresholds that demonstrated good to excellent sensitivity and specificity in classifying physical activity intensity. Conclusions SenseWear steps and RT3 activity count thresholds can be used to monitor physical activity in young people with Down syndrome, although energy expenditure estimates should be used with caution in this population

Irresponsiveness of two retinoblastoma cases to conservative therapy correlates with up- regulation of hERG1 channels and of the VEGF-A pathway

<p>Abstract</p> <p>Background</p> <p>Treatment strategies for Retinoblastoma (RB), the most common primary intraocular tumor in children, have evolved over the past few decades and chemoreduction is currently the most popular treatment strategy. Despite success, systemic chemotherapeutic treatment has relevant toxicity, especially in the pediatric population. Antiangiogenic therapy has thus been proposed as a valuable alternative for pediatric malignancies, in particolar RB. Indeed, it has been shown that vessel density correlates with both local invasive growth and presence of metastases in RB, suggesting that angiogenesis could play a pivotal role for both local and systemic invasive growth in RB. We present here two cases of sporadic, bilateral RB that did not benefit from the conservative treatment and we provide evidence that the VEGF-A pathway is significantly up-regulated in both RB cases along with an over expression of hERG1 K⁺channels.</p> <p>Case presentation</p> <p>Two patients showed a sporadic, bilateral RB, classified at Stage II of the Reese-Elsworth Classification. Neither of them got benefits from conservative treatment, and the two eyes were enucleated. In samples from both RB cases we studied the VEGF-A pathway: VEGF-A showed high levels in the vitreous, the <it>vegf-a, flt-1, kdr</it>, and <it>hif1-α </it>transcripts were over-expressed. Moreover, both the transcripts and proteins of the hERG1 K⁺channels turned out to be up-regulated in the two RB cases compared to the non cancerous retinal tissue.</p> <p>Conclusions</p> <p>We provide evidence that the VEGF-A pathway is up-regulated in two particular aggressive cases of bilateral RB, which did not experience any benefit from conservative treatment, showing the overexpression of the <it>vegf-a</it>, <it>flt-1</it>, <it>kdr </it>and <it>hif1-α </it>transcripts and the high secretion of VEGF-A. Moreover we also show for the first time that the <it>herg1 </it>gene transcripts and protein are over expressed in RB, as occurs in several aggressive tumors. These results further stress the relevance of the VEGF-A pathway in RB and the correlation with hERG1, making aggressive and recurrent RB cases good candidates for antiangiogenesis therapies based on the targeting of VEGF-A.</p

Concomitant primary breast carcinoma and primary choroidal melanoma: a case report

<p>Abstract</p> <p>Introduction</p> <p>Choroidal melanoma and choroidal metastasis are distinct pathological entities with very different treatments and prognoses. They may be difficult to distinguish to the untrained observer.</p> <p>Case presentation</p> <p>A case of concomitant choroidal melanoma in a woman with primary breast carcinoma is described. The choroidal lesion was thought initially to be a metastasis, and treated with external beam radiotherapy. The tumour did not regress but remained stable in size for a period of three years. Following referral to an ophthalmologist, the diagnosis was revised after re-evaluation of the clinical, ultrasonographic and angiographic findings.</p> <p>Conclusion</p> <p>Although metastases are the most common ocular tumour, a differential diagnosis of a concurrent primary ocular malignancy should always be considered, even in patients with known malignant disease. Thorough ophthalmic evaluation is important, as multiple primary malignancies may occur concomitantly. The prognostic and therapeutic implications of accurate diagnosis by an ophthalmologist are of profound significance to affected patients and their families.</p

Lateral rectus metastasis from an occult systemic malignancy masquerading as abducens palsy: a case report

<p>Abstract</p> <p>Introduction</p> <p>Abduction deficit in the elderly is commonly caused by sixth cranial nerve palsy due to microvasculopathy. However, not all such cases are of neurogenic origin, as our case report shows.</p> <p>Case presentation</p> <p>We present the case of a 75-year-old woman who was generally unwell, developed acute diplopia and was found to have a right abduction deficit in a quiet eye with no gross orbital signs and symptoms. A computed tomography scan of the head and orbits revealed a metastatic mass in the right lateral rectus muscle. Systemic evaluation confirmed widespread thoracic and abdominal metastases from an occult systemic malignancy. Lateral rectus metastasis from an occult systemic malignancy was masquerading as abducens palsy.</p> <p>Conclusion</p> <p>Orbital metastasis involving extraocular muscles can present as isolated diplopia with minimal local signs and the absence of a history of systemic malignancy. A detailed history and systemic examination can identify suspicious cases, which should be investigated further. The clinician should avoid presuming that such an abduction deficit in the elderly is a benign neurogenic palsy.</p

Pleomorphic adenocarcinoma of the lacrimal gland with multiple intracranial and spinal metastases

BACKGROUND: Pleomorphic adenoma of the lacrimal gland is known to undergo malignant transformation when incompletely excised. Even if such a malignant change occurs, intracranial direct invasion and leptomeningeal seeding are seldom encountered. CASE PRESENTATION: A 50-year-old woman presented with malignant transformation associated with both intracranial invasion and multiple intracranial and spinal disseminations in the third recurrence of pleomorphic adenoma of the lacrimal gland, 6 years after initial treatment. MRI demonstrated increased extent of orbital mass, extending to the cavernous sinus. The patient underwent intensity-modulated radiation therapy (IMRT) and Gamma Knife radiosurgery. Follow-up MRI showed multiple leptomeningeal disseminations to the intracranium and spine. CONCLUSION: It is important to recognize that leptomeningeal intracranial and spinal disseminations of pleomorphic adenocarcinoma can occur, although it is extremely rare. To our knowledge, we report the first case of pleomorphic adenocarcinoma of the lacrimal gland presumably metastasizing to the intracranium and spine

Non-small cell lung cancer presenting with choroidal metastasis as first sign and showing good response to chemotherapy alone: a case report

<p>Abstract</p> <p>Introduction</p> <p>Metastatic tumors are the most common intra-ocular malignancies and choroid is by far the most common site for intra-ocular malignancies. Multiple foci are usually involved, and bilateral involvement is frequently seen. The primary sites for choroidal metastasis in decreasing order and by gender are: breast, lung, unknown primary, gastrointestinal and pancreas, skin melanoma and other rare sources in females, and lung, unknown primary, gastrointestinal and pancreas, prostate, kidney, skin melanoma and other rare sources in males. Available treatment options are external beam radiotherapy and plaque radiotherapy, while new methods like surgical resection, transpupillary thermotherapy and intravitreal chemotherapy offer promises for the future. The use of chemotherapy alone for choroidal metastases is not widely reported.</p> <p>Case presentation</p> <p>We report the case of a 50-year-old Indian man who had a unilateral solitary lesion in his right eye. He was found to have an adenocarcinoma of the lung with choroidal metastasis as the first presenting sign. There were no findings of metastasis involving his contralateral eye. He was administered chemotherapy based on gemcitabine and carboplatin. He had significant progressive subjective and objective improvement since his first chemotherapy. His current best corrected visual acuity is 20/60 after three cycles of chemotherapy.</p> <p>Conclusions</p> <p>Chemotherapy alone can be used as an effective mode of treatment in patients who have primary tumors that respond to chemotherapy.</p

Prevalence of ocular and oculodermal melanocytosis in Spanish population with uveal melanoma

Producción CientíficaThe aim of this study was to determine the prevalence of ocular and oculodermal melanocytosis (ODM) among patients with uveal melanoma (UM) in a Spanish population. METHODS: Retrospective review of the medical records of patients with ODM among patients with UM. RESULTS: Ten (11 eyes) of 400 patients (2.7%) with UM associated had ODM. The mean age at diagnosis of UM among patients with ODM was 62 years. One patient had bilateral tumours. UM was diagnosed during a routine-examination in two cases. All tumours were medium (7/11) or large (4/11) in size, with a mean maximum base of 13 mm and height of 7 mm. No patient had extraocular extension or metastatic disease at diagnosis. Enucleation was done in five cases and I-125-brachytherapy in six. The mean follow-up was 43 months. One patient died because of metastasis 2 years after enucleation; one patient is currently on treatment of systemic metastasis 11 years after. CONCLUSIONS: ODM is more frequent in spanish population with UM than in American population. Despite the risk of UM in ODM, it is often diagnosed late when a conservative treatment is not indicated