Congenital Cervical Hemivertebrae and Block Vertebrae in a 43-Year-Old Male.

Congenital deformities of the spine are a consequence of anomalous vertebral development in the embryo and may be identified at birth or remain unnoticed until adulthood. Minor bony malformations of all types occur in up to 12% of the general population and are usually not apparent. In contrast, congenital spinal malformations that result in progressive spinal deformity are relatively rare. Klippel-Feil syndrome is a complex heterogeneous entity that results in cervical vertebral fusion and sometimes can occur associated to hemivertebra. We present a case of a 43-year-old male who presented to the emergency department after a fall. The patient had severe cervicalgia and generalized loss of active movement and sensation on his limbs. On physical examination, the patient presented reduced cervical range of motion and tetraplegia. Cervical magnetic resonance imaging revealed complete atlanto-occipital assimilation, left C3 hemivertebra with partial fusion in the right lateral portion of C2 and C4. Finally, there was a C5-C6 fusion. Surgical cervical stabilization was attempted but the procedure was aborted due to lack of space for placing the anterior plate safely. During hospitalization, the patient wore a cervical collar and started a rehabilitation program including muscle strengthening, balance, and gait training. The rehabilitation treatment led to a favorable clinical evolution. At discharge, the patient maintained a slight deficit of strength in his left upper and lower extremities, but he was functionally autonomous and was able to walk with a walker.

Morphological MRI of knee cartilage: repeatability and reproducibility of damage evaluation and correlation with gross pathology examination.

OBJECTIVE: To assess the performance of a morphological evaluation, based on a clinically relevant magnetic resonance imaging (MRI) protocol, in scoring the severity of knee cartilage damage. Specifically, to evaluate the reproducibility, repeatability, and agreement of MRI evaluation with the gross pathology examination (GPE) of the tissue. METHODS: MRI of the knee was performed the day before surgery in 23 patients undergoing total knee arthroplasty. Osteochondral tissue resections were collected and chondral defects were scored by GPE according to a semi-quantitative scale. MR images were independently scored by four radiologists, who assessed the severity of chondral damage according to equivalent criteria. Inter- and intra-rater agreements of MRI evaluations were assessed. Correlation, precision, and accuracy metrics between MRI and GPE scores were calculated. RESULTS: Moderate to substantial inter-rater agreement in scoring cartilage damage by MRI was found among radiologists. Intra-rater agreement was higher than 96%. A significant positive monotonic correlation between GPE and MRI scores was observed for all radiologists, although higher correlation values were obtained by radiologists with expertise in musculoskeletal radiology and/or longer experience. The accuracy of MRI scores displayed a spatial pattern, characterized by lesion overestimation in the lateral condyle and underestimation in the medial condyle with respect to GPE. CONCLUSIONS: Evaluation of knee cartilage morphology by MRI is a reproducible and repeatable technique, which positively correlates with GPE. Clinical expertise in musculoskeletal radiology positively impacts the evaluation reliability. These findings may help to address limitations in MRI evaluation of knee chondral lesions, thus improving MRI assessment of knee cartilage. KEY POINTS: • MRI evaluation of knee cartilage shows moderate to strong correlation with gross pathology examination. • MRI evaluation overestimates cartilage damage in the lateral condyle and underestimates it in the medial condyle. • Education and experience of the radiologist play a role in MRI evaluation of knee chondral lesions.

Massive mitral annular calcification mimicking intracardiac mass: Multimodality approach to diagnosis.

The correct differential diagnosis of cardiac masses can be challenging and often carries important clinical implications. We present the case of a 78-year-old man with a cardiac mass of unclear etiology diagnosed on echocardiography. Using a multimodality approach with cardiac magnetic resonance and computed tomography, it was possible to define the real nature of the mass as composed of 2 voluminous calcifications of the mitral annulus.

High-affinity glucose transport in Aspergillus nidulans is mediated by the products of two related but differentially expressed genes.

Independent systems of high and low affinity effect glucose uptake in the filamentous fungus Aspergillus nidulans. Low-affinity uptake is known to be mediated by the product of the mstE gene. In the current work two genes, mstA and mstC, have been identified that encode high-affinity glucose transporter proteins. These proteins' primary structures share over 90% similarity, indicating that the corresponding genes share a common origin. Whilst the function of the paralogous proteins is little changed, they differ notably in their patterns of expression. The mstC gene is expressed during the early phases of germination and is subject to CreA-mediated carbon catabolite repression whereas mstA is expressed as a culture tends toward carbon starvation. In addition, various pieces of genetic evidence strongly support allelism of mstC and the previously described locus sorA. Overall, our data define MstC/SorA as a high-affinity glucose transporter expressed in germinating conidia, and MstA as a high-affinity glucose transporter that operates in vegetative hyphae under conditions of carbon limitation.

Null ABCA3 in humans: large homozygous ABCA3 deletion, correlation to clinical-pathological findings.

A study was undertaken to analyze the clinical presentation, pulmonary function, and pathological features in two female siblings with neonatal pulmonary surfactant metabolism dysfunction, type 3 (MIM 610921). The clinical records of the siblings were examined; the genes encoding surfactant protein B (SFTPB), surfactant protein C (SFTPC), and ATP-binding cassette transporter 3 protein (ABCA3) were analyzed with direct sequencing and Southern blotting. The infants were homozygous for a 5,983 bp deletion in ABCA3 including exons 2-5 as well as the start AUG codon and a putative Golgi exit signal motif. Dense abnormalities of lamellar bodies at electron microscopy and absence of ABCA3 at immunohistochemical staining were in agreement with the presence of two null alleles. In addition, an increased lipid synthesis suggested a compensatory mechanism. The clinical course in the two sisters was influenced by different environmental factors like the time needed for molecular confirmation, the ventilatory assistance adopted, the occurrence of infections. A less aggressive clinical approach did not improve the course of the disease; the prognosis was always poor. Development of a fast molecular test, able to detect also structural variants, is needed.

Perinatal complications in twin pregnancies after 34 weeks: effects of gestational age at delivery and chorionicity.

OBJECTIVE: To evaluate the perinatal outcome of twins approaching term in relation to chorionicity and gestational age at delivery. STUDY DESIGN: We accessed data pertaining to a cohort of 471 twin pregnancies with certain chorionicity delivered at > 34.0 weeks' gestation. Twin gestation per se, estimated fetal weight below the 10th percentile, or any intertwin discordance was not an indication for delivery before 40.0 weeks. Predictors of adverse perinatal outcome were identified using logistic regression analysis. RESULTS: There were no stillbirths. Adverse neonatal outcome occurred in 27% of monochorionic versus 16% of dichorionic gestations. At multivariate analysis, lower gestational age at delivery (odds ratio [OR] 0.70, 95% confidence interval [CI] 0.57 to 0.87), monochorionicity (OR 2.06, 95% CI 1.16-3.63), and either twin being growth-restricted (OR 2.35, 95% CI 1.22 to 4.54) were independent predictors of adverse neonatal outcome. Analysis of adverse neonatal outcome stratified by gestational age and chorionicity identified 36 to 37 weeks as optimal timing for delivery of monochorionic twins, and dichorionic twin pregnancies should be allowed to continue until term. CONCLUSION: Among twin gestations delivered after 34 weeks with appropriate fetal growth, reassuring fetal status at weekly assessment, and absence of obstetric complications, delivery after 36 weeks for monochorionic twins and at term for dichorionic twins minimizes the risk of stillbirths and neonatal morbidity.

Un aporte a la salud bucal de los niños de Quinto Grado / A contribution to the oral health of Fifth Graders

Se realizó un estudio de intervención educativa en el Seminternado Orestes Gutiérrez Escalona de Manzanillo, con estudiantes de Quinto Grado, desde septiembre de 2010 a marzo de 2011. Se contó con un universo de 96 niños, comprendidos en la edad de 10-11 años. El objetivo fue implementar un software educativo Por una sonrisa sana, que permita elevar el nivel de conocimiento sobre higiene bucal de los estudiantes de quinto grado. Se aplicó una encuesta para diagnosticar su estado inicial. Se logró elevar el nivel de conocimiento de un 20,8 por ciento a un 92,7 por ciento. Sobre las enfermedades periodontales el conocimiento de los niños aumentó en un 72,95 por ciento. Referido a la maloclusión hubo un 92,72 por ciento de los niños que elevó su nivel de conocimiento sobre esta enfermedad. La validación en la práctica permitió conocer la pertinencia y efectividad del software propuesto(AU)

It was performed an educative- intervention study at Orestes Gutiérrez Escalona school in Manzanillo, with fifth graders, since September 2010 to March 2011. It featured a universe of 96 children by the age of 10-11 years old. The objective was to implement an educational software for a healthy smile, that allows to raise the level of knowledge about oral hygiene of fifth-grade students. A survey was applied to diagnose its initial state. We increased the level of knowledge from 20.8 percent to 92.7 percent. The knowledge of children regarding periodontal diseases reached 72,95 percent. Referring to malocclusion, there was a 92,72 percent of children which raised their level of knowledge about this disease. The practical validation allowed us to know the relevance and effectiveness of the proposed software(EU)

S100B protein and near infrared spectroscopy in preterm and term newborns.

Cerebral monitoring constitutes an emerging issue in perinatal medicine. Near Infrared Spectroscopy (NIRS) monitors brain oxygenation status in sick infants although data in healthy infants are lacking. The present study investigates whether NIRS parameters change according to gestational age and correlate with S100B protein. We recruited 64 healthy newborns (weeks' gestation: 30-42 wks) in which we performed in the first 6-hours after birth routine clinical, radiological and laboratory variables, cerebral oxygen saturation (rSO2), fractional cerebral tissue oxygen extraction (FTOE) values and S100B urine assessment. rSO2 and FTOE correlated (R=-0.73; R=0.51; P less than 0.01, for both) with gestational age. Highest rSO2 and the lowest FTOE peaks (P less than 0.001) were found at 30-33 wks. From 34 wks onwards, rSO2 progressively decreased and FTOE increased reaching their lower dip/peak (P less than 0.001) at 38-39 weeks. A significant correlation between S100B and NIRS parameters (rSO2: r=0.77; FTOE: r=-0.69; P less than 0.01) has been found. The present study shows that NIRS parameters and S100B protein correlation may be of help in brain function monitoring.

Identification of the mstE gene encoding a glucose-inducible, low affinity glucose transporter in Aspergillus nidulans.

The mstE gene encoding a low affinity glucose transporter active during the germination of Aspergillus nidulans conidia on glucose medium has been identified. mstE expression also occurs in hyphae, is induced in the presence of other repressing carbon sources besides glucose, and is dependent on the function of the transcriptional repressor CreA. The expression of MstE and its subcellular distribution have been studied using a MstE-sGFP fusion protein. Concordant with data on mstE expression, MstE-sGFP is synthesized in the presence of repressing carbon sources, and fluorescence at the periphery of conidia and hyphae is consistent with MstE location in the plasma membrane. Deletion of mstE has no morphological phenotype but results in the absence of low affinity glucose uptake kinetics, the latter being substituted by a high affinity system.

Glucose uptake in germinating Aspergillus nidulans conidia: involvement of the creA and sorA genes.

D-Glucose uptake in germinating wild-type Aspergillus nidulans conidia is an energy-requiring process mediated by at least two transport systems of differing affinities for glucose: a low-affinity system (K(m) approximately 1.4 mM) and a high-affinity system (K(m) approximately 16 micro M). The low-affinity system is inducible by glucose; the high-affinity system is subject to glucose repression effected by the carbon catabolite repressor CreA and is absent in sorA3 mutant conidia, which exhibit resistance to L-sorbose toxicity. An intermediate-affinity system (K(m) approximately 400 micro M) is present in sorA3 conidia germinating in derepressing conditions. creA derepressed mutants show enhanced sensitivity to L-sorbose. The high-affinity uptake system appears to be responsible for the uptake of this toxic sugar.