Crouzon's syndrome: A review of literature and case report

Crouzon's syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon's syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Normally, the sutures in the human skull fuse after the complete growth of the brain, but if any of these sutures close early then it may interfere with the growth of the brain. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Case report of a 7 year old boy is presented with characteristic features of Crouzon's syndrome with mental retardation. The clinical, radiographic features along with the complete oral rehabilitation done under general anesthesia and preventive procedures done are described.     

Optimization of CO2 Sorption onto Spent Shale with Diethylenetriamine (DETA) and Ethylenediamine (EDA)

A novel technique was employed to optimize the CO₂ sorption performance of spent shale at elevated pressure–temperature (PT) conditions. Four samples of spent shale prepared from the pyrolysis of oil shale under an anoxic condition were further modified with diethylenetriamine (DETA) and ethylenediamine (EDA) through the impregnation technique to investigate the variations in their physicochemical characteristics and sorption performance. The textural and structural properties of the DETA- and EDA- modified samples revealed a decrease in the surface area from tens of m²/g to a unit of m²/g due to the amine group dispersing into the available pores, but the pore sizes drastically increased to macropores and led to the creation of micropores. The N–H and C–N bonds of amine noticed on the modified samples exhibit remarkable affinity for CO₂ sequestration and are confirmed to be thermally stable at higher temperatures by thermogravimetric (TG) analysis. Furthermore, the maximum sorption capacity of the spent shale increased by about 100% with the DETA modification, and the equilibrium isotherm analyses confirmed the sorption performance to support heterogenous sorption in conjunction with both monolayer and multilayer coverage since they agreed with the Sips, Toth, Langmuir, and Freundlich models. The sorption kinetics confirm that the sorption process is not limited to diffusion, and both physisorption and chemisorption have also occurred. Furthermore, the heat of enthalpy reveals an endothermic reaction observed between the CO₂ and amine-modified samples as a result of the chemical bond, which will require more energy to break down. This investigation reveals that optimization of spent shale with amine functional groups can enhance its sorption behavior and the amine-modified spent shale can be a promising sorbent for CO₂ sequestration from impure steams of the natural gas.     

Detection of dengue virus RNA using nucleic acid hybridization

Conditions for using slot-blot nucleic acid hybridization to quantitatively detect dengue-2 virus using a radiolabelled cDNA probe, pVV17, were determined. As little as 11 plaque-forming units of virus were detected using a hybridization mixture without formamide and performing the test at 70 degrees C. While predominantly serotype-specific using stringent (65 degrees C) washing conditions, the probe detected all four dengue virus serotypes using astringent (28 degrees C) washing conditions. No significant qualitative differences were detected using Thai dengue-2 viruses isolated over a 10-year period. High titered, anti-flavivirus antibodies blocked virus detection by an antigen capture, enzyme-linked, immunosorbent assay or by intrathoracic inoculation of Toxorhyncites mosquitoes, but not by nucleic acid hybridization. The appearance of virus-specified RNA coincided with the detection of antigen in infected C6/36 (Aedes albopictus) cells by immunofluorescence, or in cell culture supernatants by the antigen capture method. The method has potential as a diagnostic tool for identifying dengue viruses in clinical and field specimens.     

Higher prevalence of vitamin D deficiency in mothers of rachitic than nonrachitic children

Vitamin D deficiency [serum 25-hydroxyvitamin D <25 nmol/L (<10 ng/mL)] was identified in 92% of rachitic Arab children and 97% of their mothers compared with 22% of nonrachitic children and 52% of their mothers. There was a positive correlation between maternal and child vitamin D levels. We conclude that mothers of rachitic children should be investigated and treated for vitamin D deficiency.     

Bilateral macular hemorrhage caused by azathioprine-induced aplastic anemia in a corneal graft recipient

PURPOSE: To report the occurrence of bilateral macular hemorrhage following the use of azathioprine for immunosuppression in a corneal transplant recipient. METHODS: The patient underwent therapeutic penetrating keratoplasty for progressive fungal keratitis in his left eye. Although the infection did not recur, the graft failed with vascularization of the cornea in three quadrants. He underwent repeat penetrating keratoplasty 2 years later and was treated with azathioprine (100 mg daily) to enhance graft survival. Four months after instituting azathioprine therapy, he developed aplastic anemia and macular hemorrhage in both eyes. RESULTS: Fluorescein angiography revealed a preretinal location of the macular hemorrhage. After cessation of azathioprine therapy and treatment with blood component replacement, hematological parameters improved and the macular hemorrhage cleared with good visual recovery during the next 2 months. CONCLUSION: This report highlights the serious ocular and systemic complications that can occur following the use of systemic immunosuppressants after ophthalmic surgery.     

Teratocarcinosarcoma of the nose,paranasal sinuses and nasopharynx

Teratomas affecting the head and neck are rare tumours of ambiguous origin. The benign form is seen in children and mostly affects the nasopharynx. Malignant tumours in the upper jaw have been reported rarely. They are almost exclusively seen in the adult male. They are highly aggressive tumours that are difficult to diagnose pre-operatively due to the varied histological patterns. Treatment options available are surgery, radiotherapy or a combination of both. Despite intensive treatment, the prognosis is still poor. A rare case of teratocarcinosarcoma of the nose, paranasal sinuses and nasopharynx in a 25-year-old male is presented. The tumour had a non-germ cell tumour origin. The clinical features, pathologic characteristics and treatment are detailed. It was managed by surgery, radiotherapy and chemotherapy.     

Synchronous adenocarcinoma and mantle cell lymphoma of the colon

Synchronous occurrence of malignant lymphoma and carcinoma, both located in the intestinal tract, is unusual. We report a unique case of an adenocarcinoma of the cecum and a simultaneous mantle cell lymphoma of the colon, terminal ileum, and regional lymph nodes in an 85-year-old man. Grossly, the adenocarcinoma was identified as a cecal mass. Lymphomatous involvement of the gastrointestinal tract was evident only on microscopic examination. The terminal ileum and colon showed microscopic disseminated multiple mucosal nodules, with involvement of the regional lymph nodes. There was no involvement of distant organs, suggesting that the mantle cell lymphoma was early in its evolution without formation of polyps or a mass lesion. To our knowledge, this is the fourth reported case with this association and the second case that showed early involvement of the gastrointestinal tract with mantle cell lymphoma without polyp formation.     

SDF-1alpha is expressed in astrocytes and neurons in the AIDS dementia complex: an in vivo and in vitro study

Recent in vitro studies suggest that the alpha chemokine stromal-derived factor-1alpha (SDF-1alpha) and its receptor CXCR-4 may contribute to neuronal apoptosis in HIV infection of the brain. The cellular and regional expression of this chemokine and its relationship to the AIDS dementia complex (ADC), however, have remained undetermined. Using immunohistochemistry and semiquantitative RT-PCR, we examined the expression of SDF-1alpha in the frontal cortex (FC), the adjacent deep white matter (DWM). and the basal ganglia (BG) of 17 patients with ADC and 5 normal controls, and the FC and temporal cortex of 6 patients with Alzheimer disease (AD). Additionally, SDF-1alpha expression was studied in 3 different neuronal cultures: differentiated SK-N-MC cells, primary human fetal neuronal, and mouse hippocampal cultures. SDF-1alpha staining was predominantly localized to astrocytes in all 3 groups in the gray matter of the FC and the BG, often in the vicinity of cortical and basal ganglia neurons, but was generally absent in the DWM. Further, the number of positive neurons was significantly greater in the BG of AIDS subjects with advanced brain disease compared to subjects with lesser disease (p = 0.029). All cultures showed prominent SDF-1alpha staining of neurons within the cytoplasm and in neurites, whereas preferential expression in GABA-ergic neurons was found in hippocampal cultures. This is the first study to show that SDF-1alpha is constitutively expressed in astrocytes of the deep and cortical gray matter as well as in neurons of the human brain. Its increased expression in basal ganglia neurons of patients with advanced HIV CNS disease suggests it may also contribute to pathogenesis.     

Discontinuation from HIV medical care: squandering treatment opportunities

The purpose of this study was to assess HIV-infected patients' discontinuation of their primary care. One hundred ninety-eight consecutive outpatients were interviewed on initial HIV primary care presentation, assessed after six months about their discontinuation from primary care, and had characteristics associated with discontinuation determined. Primary care was not continued in 20 percent (40/198) of the cases. Cohort characteristics included 25 percent women; 44 percent black, 28 percent white, 25 percent Hispanic; 69 percent with highest yearly income < or = $16,000; 47 percent injection drug users; and median CD4 count 285/microL. Characteristics significantly associated (p < or = 0.05) with discontinuation were higher CD4 count, less education, no history of victimization, previous jail time, and site of medical care. One-fifth of HIV-infected patients did not remain engaged in primary care after establishing this essential link to treatment.