Search results for "Miss"
showing 10 items of 6417 documents
Case Report: Unmasking Hypercalcemia in Patients With Neuroendocrine Neoplasms. Experience From Six Italian Referral Centers
2021
BackgroundHypercalcemia is a common paraneoplastic syndrome which can occur in up to 10% of patients with advanced neoplasms. Paraneoplastic parathyroid hormone-related protein (PTHrP) represents the most frequent cause of this syndrome. In neuroendocrine neoplasms (NENs) paraneoplastic hypercalcemia is rare.Case SeriesThe present series includes all patients with NENs and paraneoplastic hypercalcemia from four Italian centres: (I) A 40-year-old man was hospitalized for repeated episodes of falls, hyposthenia and drowsiness. Severe hypercalcemia was found. Metastatic pancreatic G2 NEN and PTHrP-related hypercalcemia were diagnosed. The patient started therapy with somatostatin analogs (SSA)…
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies
2004
We recently identified mutations in the fukutin related protein (FKRP) gene in patients with congenital muscular dystrophy type 1C (MDC1C) and limb girdle muscular dystrophy type 2I (LGMD2I). The sarcolemma of these patients typically displays an immunocytochemical reduction of alpha-dystroglycan. In this report we extend these observations and report a clear correlation between the residual expression of alpha-dystroglycan and the phenotype. Three broad categories were identified. Patients at the severe end of the clinical spectrum (MDC1C) were compound heterozygote between a null allele and a missense mutation or carried two missense mutations and displayed a profound depletion of alpha-d…
Estimation of structural and geometrical properties of cortical bone by computerized tomography in 78-year-old women
2009
The structural and geometrical properties of the tibia shaft were investigated at two sections by means of computerized tomography (CT) in 78-year-old women with high (n = 19) and low (n = 17) calcaneal bone mineral density (BMD, g/cm3) previously measured by 125I-photon absorption. The high BMD group had a 20-21% higher tibial BMD and 9-12% higher bone cross-sectional area than was observed in the low BMD group. The distribution of bone mass indicated that the low BMD group had lost bone mainly from the endosteal surface, especially in the anterior part of the tibia. However, both groups had a similar basic pattern of mass distribution at the measured sections. The high BMD group had highe…
Synthesis, electron microscopy and X-ray characterization of oxymagnesite, MgO·2MgCO3, formed from amorphous magnesium carbonate
2014
At present, the peculiar compound called oxymagnesite, MgO·2MgCO3, an intermediate formed during thermal decomposition of hydrated magnesium carbonates, has only been described a handful of times without a distinct description of its formation or morphology. In the current work we present the first scanning and transmission electron microscopy images of an oxymagnesite crystal together with its crystallographic data. Oxymagnesite was synthesized in a controlled manner via decomposition of amorphous magnesium carbonates (AMCs) subjected to varying relative humidity. We show that oxymagnesite is formed only when AMC is hydrated above a certain level, which we attribute to structural inequival…
FGFR2mutation in 46,XY sex reversal with craniosynostosis
2015
Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which range from hypospadias to complete male-to-female sex reversal. However, a molecular diagnosis is made in only 30% of cases. Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffer, but testicular defects were not reported. Here, we describe a patient whose features we would suggest represent a new FGFR2-related syndrome, craniosynostosis with XY male-to-female sex reversal or CSR. The craniosynostosis patient was chromosomally XY, but presented as a phenotypic female due to complete GD. DNA sequencing identified the FGFR2c heterozygous missense mutatio…
Effects of muscle activation on shear between human soleus and gastrocnemius muscles
2015
Lateral connections between muscles provide pathways for myofascial force transmission. To elucidate whether these pathways have functional roles in vivo, we examined whether activation could alter the shear between the soleus (SOL) and lateral gastrocnemius (LG) muscles. We hypothesized that selective activation of LG would decrease the stretch-induced shear between LG and SOL. Eleven volunteers underwent a series of knee joint manipulations where plantar flexion force, LG, and SOL muscle fascicle lengths and relative displacement of aponeuroses between the muscles were obtained. Data during a passive full range of motion were recorded, followed by 20° knee extension stretches in both pass…
Self-reported flares are predictors of radiographic progression in rheumatoid arthritis patients in 28-joint disease activity score remission: a 24-m…
2016
Background Disease flares are common in rheumatoid arthritis (RA) and are related to structural damage. However, few data on the impact of flares reported by patients on radiographic progression are available. Our aim was to investigate whether overall flares (OF), self-reported flares (SRF) and short flares assessed at the visit (SF) predict radiographic progression in RA patients in DAS28 (28-joint disease activity score) remission. Methods We reviewed the records of RA patients included in our database. We considered all patients who had a period of at least 24 months in remission (DAS28 0. Patients were assessed every 3 months and flares were recorded. We defined SRF as any worsening of…
Effects of muscle activation on shear between human soleus and gastrocnemius muscles
2017
Lateral connections between muscles provide pathways for myofascial force transmission. To elucidate whether these pathways have functional roles in vivo, we examined whether activation could alter the shear between the soleus (SOL) and lateral gastrocnemius (LG) muscles. We hypothesized that selective activation of LG would decrease the stretch-induced shear between LG and SOL. Eleven volunteers underwent a series of knee joint manipulations where plantar flexion force, LG, and SOL muscle fascicle lengths and relative displacement of aponeuroses between the muscles were obtained. Data during a passive full range of motion were recorded, followed by 20° knee extension stretches in both pass…
Endocannabinoid Role in Synaptic Plasticity and Learning
2009
Endocannabinoids have recently emerged as versatile modulators of synaptic transmission and can act as retrograde neurotransmitters. As they cannot be stored in synaptic vesicles, endocannabinoid signaling is believed to start ‘on-demand,’ via a stimulus-dependent synthesis from membranous precursors at the postsynaptic site. After synthesis, endocannabinoids bind presynaptically to cannabinoid type 1 (CB1) receptors, leading to a short- or long-term suppression of neurotransmitter release. CB1 receptors are present in a plethora of different synaptic connections in the brain. Electrophysiological and behavioral analyses of mutant mice lacking CB1 receptors and of pharmacologically treated …
Early Treatment of Systemic Juvenile Idiopathic Arthritis with Canakinumab and Complete Remission After 2 Years of Treatment Suspension: Case Report …
2019
Systemic juvenile idiopathic arthritis (sJIA) is an autoinflammatory disease characterised by fever and arthritis. We describe the case of a 14-year-old girl hospitalised with fever associated with rash, myalgia, arthralgia and polyarticular involvement. Examinations revealed increased levels of C-reactive protein, erythrocyte sedimentation rate, ferritin, triglycerides, leukocytes, neutrophils, lactate dehydrogenase, fibrinogen, aspartate aminotransferase (AST), alanine aminotransferase (ALT) and γ-glutamyl transferase (GGT). Bone marrow biopsy showed polyclonal leukocyte activation. A genetic study revealed a heterozygous mutation of the MEFV gene, c.442G>C (E148Q), which is typical of…