Encephalomeningocele cases over 10 years in Thailand: a case series

BACKGROUND: Encephalomeningocele, especially in the frontoethmoidal region, is a form of neural tube defect which affects patients in Southeast Asia more commonly than in Western countries. Its underlying cause is not known but teratogenic environmental agents are suspected. However, nutritional deficiency, as in spina bifida, cannot be excluded. METHODS: This study reports 21 cases of meningocele (without brain tissue in the lesion) and encephalomeningocele (with brain tissue) that were admitted to our hospital for surgical corrections in the period of ten years, from 1990 to 1999. Clinicopathological findings, as well as occupations of family members and prenatal exposures to infectious agents or chemicals were reviewed and analyzed. RESULTS: The most commonly involved area was the frontoethmoidal region, found in 20 cases. The combined pattern between nasoethmoidal and nasoorbital defects was found most frequently (11 from 21 cases) and had more associated abnormalities. Encephalomeningocele had more related abnormalities than meningocele with proportions of 0.6 and 0.3, respectively. CONCLUSIONS: Here, we confirmed that genetic defects are not likely to be the single primary cause of this malformation. However, we could not draw any conclusions on etiologic agents. We suggest that case control studies and further investigation on the role of nutritional deficiencies, especially folic acid, in the pathogenesis of encephalomeningocele are necessary to clarify the underlying mechanisms

Grisel’s syndrome, a rare cause of anomalous head posture in children: a case report

BACKGROUND: Anomalous head posture (AHP) or torticollis is a relatively common condition in children. Torticollis is not a diagnosis, but it is a sign of underlying disease. Grisel’s syndrome (GS) is a rare condition of uncertain etiology characterized by a nontraumatic atlanto-axial subluxation (AAS), secondary to an infection in the head and neck region. It has not been considered, in ophthalmological papers, as a possible cause of AHP. CASE PRESENTATION: A case of AAS secondary to an otitis media is studied. The children showed neck pain, head tilt, and reduction in neck mobility. The patient had complete remission with antibiotic and anti-inflammatory therapy and muscle relaxants. Signs of GS should always be taken into account during ophthalmological examination (recent history of upper airway infections and/or head and neck surgeries associated to a new onset of sudden, painful AHP with normal ocular exam). In such cases it is necessary to require quick execution of radiological examinations (computer tomography and/or nuclear magnetic resonance), which are essential to confirm the diagnosis. CONCLUSION: GS is a multidisciplinary disease. We underline the importance of an accurate orthoptic and ophthalmological examination. Indeed, early detection and diagnosis are fundamental to achieve proper management, avoid neurological complications and lead to a good prognosis

Carotid artery injury from an airgun pellet: a case report and review of the literature

Historically airguns were powerful weapons. Modern models, though less lethal, are still capable of inflicting serious or life threatening injuries. Current United Kingdom legislation fails to take into the account the capacity for airguns to maim and kill. We believe that airguns should be governed by the same law that applies to firearms. We present a case of a potentially fatal airgun injury to the neck. The airgun pellet caused a defect in the anterior wall of the external carotid artery, which required rapid access and surgical repair. We discuss the mechanism of airgun injury and review the literature in terms of investigation and management

A case of eosinophilic granuloma of the skull in an adult man: a case report

Eosinophilic granuloma is very rare benign bone tumor which presents in more than 90% in children under the age of ten. There is predominance for males. It is usually found at flat and long bones. The skull and vertebral spine is often affected. We report a case of 57 year-old man who gradually developed local pain at his skull and orbit. A soft, movable, palpable and tender mass was found at the left temporal bone. The pain deteriorated after an accidental injury at skull and remained so. The clinical examination revealed no pathological findings. The patient was a doctor who smoked and consumed alcohol daily. He had a history of cardial infraction and psoriatic arthritis. X-rays and CT revealed a round lytic defect at the skull. Its borders were sharp and its size was 1.6 × 1.8 cm. No periostic reaction or bone formation was noted. Scintigraphy depicted a lytic lesion without radionuclide enhancement. Thus we suspected an eosinophilic granuloma. An attempt to excise the tumor failed as it had already eroded the underlying temporal bone. The external meninga was affected but not the internal one. Histological diagnosis with dominance of Langerhans cells set the diagnosis. A second surgery was done and the eosinophilic granuloma was extracted. After eight months the gap was bridged with plastic heterologous transplant. After the curettage the patient received antibiotics and five cycles of radiotherapy. The aesthetic result was excellent. The patient's head has a normal hairy appearance. No tenderness, swelling or recurrence is recorded until now

Analysis of AML genes in dysregulated molecular networks

<p>Abstract</p> <p>Background</p> <p>Identifying disease causing genes and understanding their molecular mechanisms are essential to developing effective therapeutics. Thus, several computational methods have been proposed to prioritize candidate disease genes by integrating different data types, including sequence information, biomedical literature, and pathway information. Recently, molecular interaction networks have been incorporated to predict disease genes, but most of those methods do not utilize invaluable disease-specific information available in mRNA expression profiles of patient samples.</p> <p>Results</p> <p>Through the integration of protein-protein interaction networks and gene expression profiles of acute myeloid leukemia (AML) patients, we identified subnetworks of interacting proteins dysregulated in AML and characterized known mutation genes causally implicated to AML embedded in the subnetworks. The analysis shows that the set of extracted subnetworks is a reservoir rich in AML genes reflecting key leukemogenic processes such as myeloid differentiation.</p> <p>Conclusion</p> <p>We showed that the integrative approach both utilizing gene expression profiles and molecular networks could identify AML causing genes most of which were not detectable with gene expression analysis alone due to the minor changes in mRNA level.</p

Scoliotic posture as the initial symptom in adolescents with lumbar disc herniation: its curve pattern and natural history after lumbar discectomy

<p>Abstract</p> <p>Background</p> <p>There have been few studies focusing on the curve pattern of scoliosis caused by lumbar disc herniation (LDH) in adolescents and the natural history of scoliosis after discectomy. The current study was carried out to identify the curve pattern of scoliosis and investigate the effect of posterior discectomy on the curve improvement in adolescents with LDH.</p> <p>Methods</p> <p>This review focused on a group of 26 adolescents with LDH who initially presented to our clinic for evaluation of scoliosis, followed by posterior discectomy between 2000 and 2009. Radiographic measurements included curve pattern, specific curve features, trunk shift, and sagittal profile. The correlation between the side of disc herniation and the direction of lumbosacral curve and the trunk shift was evaluated.</p> <p>Results</p> <p>A typical curve pattern was initially identified in all of the patients as a short lumbosacral curve accompanied with a long thoracic or thoracolumbar curve toward the opposite side. 23 of 26 patients (88.5%) had a trunk shift more than 2.0 cm away from the midline, showing a poor coronal balance. A relatively straight sagittal profile was noted in all the patients. 84.6% (22/26) patients had a disc herniation at the convex side of lumbosacral curve. Similarly, 73.1% (19/26) patients showed a trunk shift toward the opposite side of disc herniation. All of the patients had an marked curve improvement immediately after discectomy. In the 17 patients with a more than 2-year follow-up, only two had a residual lumbosacral curve greater than or equal to 20 degrees. The mean ODI improved from 21.4% before surgery to 7.3% at the final follow-up.</p> <p>Conclusions</p> <p>A short lumbosacral curve accompanied with a long thoracic or thoracolumbar curve toward the opposite side, and a relatively straight sagittal profile have been noted in all the patients. The direction of lumbosacral curve and trunk shift was related to the side of disc herniation. A majority of patients have a small curve size while assosiated with a significant coronal imbalance. Earlier decompression can provide a greater opportunity for spontaneous correction of scoliosis.</p

Bioinformatics-Driven Identification and Examination of Candidate Genes for Non-Alcoholic Fatty Liver Disease

ObjectiveCandidate genes for non-alcoholic fatty liver disease (NAFLD) identified by a bioinformatics approach were examined for variant associations to quantitative traits of NAFLD-related phenotypes.Research Design and MethodsBy integrating public database text mining, trans-organism protein-protein interaction transferal, and information on liver protein expression a protein-protein interaction network was constructed and from this a smaller isolated interactome was identified. Five genes from this interactome were selected for genetic analysis. Twenty-one tag single-nucleotide polymorphisms (SNPs) which captured all common variation in these genes were genotyped in 10,196 Danes, and analyzed for association with NAFLD-related quantitative traits, type 2 diabetes (T2D), central obesity, and WHO-defined metabolic syndrome (MetS).Results273 genes were included in the protein-protein interaction analysis and EHHADH, ECHS1, HADHA, HADHB, and ACADL were selected for further examination. A total of 10 nominal statistical significant associations (P&lt;0.05) to quantitative metabolic traits were identified. Also, the case-control study showed associations between variation in the five genes and T2D, central obesity, and MetS, respectively. Bonferroni adjustments for multiple testing negated all associations.ConclusionsUsing a bioinformatics approach we identified five candidate genes for NAFLD. However, we failed to provide evidence of associations with major effects between SNPs in these five genes and NAFLD-related quantitative traits, T2D, central obesity, and MetS