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D S Enterline

Publications and source records attributed to D S Enterline.

17 recordsLinked to original sources

Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10.

Neural tube defects (NTDs) are the second most common birth defects (1 in 1000 live births) in the world. Periconceptional maternal folate supplementation reduces NTD risk by 50-70%; however, studies of folate related and other developmental genes in humans have failed to definitively identify a major causal gene for NTD. The aetiology of NTDs remains unknown and both genetic and environmental factors are implicated. We present findings from a microsatellite based screen of 44 multiplex pedigrees ascertained through the NTD Collaborative Group. For the linkage analysis, we defined our phenotype narrowly by considering individuals with a lumbosacral level myelomeningocele as affected, then we expanded the phenotype to include all types of NTDs. Two point parametric analyses were performed using VITESSE and HOMOG. Multipoint parametric and nonparametric analyses were performed using ALLEGRO. Initial results identified chromosomes 7 and 10, both with maximum parametric multipoint lod scores (Mlod) >2.0. Chromosome 7 produced the highest score in the 24 cM interval between D7S3056 and D7S3051 (parametric Mlod 2.45; nonparametric Mlod 1.89). Further investigation demonstrated that results on chromosome 7 were being primarily driven by a single large pedigree (parametric Mlod 2.40). When this family was removed from analysis, chromosome 10 was the most interesting region, with a peak Mlod of 2.25 at D10S1731. Based on mouse human synteny, two candidate genes (Meox2, Twist1) were identified on chromosome 7. A review of public databases revealed three biologically plausible candidates (FGFR2, GFRA1, Pax2) on chromosome 10. The results from this screen provide valuable positional data for prioritisation of candidate gene assessment in future studies of NTDs.

Chromosomes, Human, Pair 10↗

Endodermal cyst of the oculomotor nerve.

Endodermal cysts are rare congenital intracranial lesions. Although histologically benign, they can become symptomatic as a result of mass effect and cause neurological deficits. We report a 30-year-old woman who presented with paresis of her right oculomotor nerve. Magnetic resonance imaging showed a 13 x 8-mm cystic lesion originating from the right oculomotor nerve at its exit from the mesencephalon. She underwent craniotomy, biopsy, slit resection, and drainage of the cyst. To our knowledge, endodermal cysts have not been previously described in relation to the oculomotor nerve.

Adult↗

CT fluoroscopy--guided interventional procedures: techniques and radiation dose to radiologists.

PURPOSE: To determine the radiation dose to radiologists who perform computed tomographic (CT) fluoroscopic interventional procedures by using a quick-check method and a low-milliampere technique. MATERIALS AND METHODS: Two hundred twenty CT fluoroscopy--guided interventional procedures were performed in 189 patients. Procedures included 57 spinal injections, 17 spinal biopsies, 24 chest biopsies, 20 abdominal aspirations, 44 abdominal biopsies, and 58 abdominal drainages. Procedure details were prospectively recorded and included site, depth, target diameter, milliampere value, kilovolt peak, fluoroscopic time, and CT technique (continuous CT fluoroscopy, quick-check method, or a combination of these techniques). An individual collar and finger radiation detector were worn by each radiologist during each procedure to determine the dose per procedure. RESULTS: The quick-check technique was performed in 191 (87%) of 220 procedures. Four procedures were performed with continuous CT fluoroscopy, and a combination technique was used for 25 (11%) procedures. The overall mean CT fluoroscopic time was 17.9 seconds (range, 1.2--101.5 seconds). The mean milliampere value was 13.2 mA (range, 10--50 mA). The overall mean radiologist radiation dose per procedure was 2.5 mrem (0.025 mSv) (whole body). Individual procedure doses ranged from 0.66 to 4.75 mrem (0.007--0.048 mSv). The finger radiation dose was negligible. CONCLUSION: By using a low-milliampere technique and the quick-check method, CT fluoroscopic time and radiation exposure can be minimized.

Adult↗

Genetic studies in neural tube defects. NTD Collaborative Group.

Neural tube defects (NTD) are one of the most common birth defects and are caused by both environmental and genetic factors. The approach to identifying the genes predisposing to NTD, through linkage analysis and candidate gene analysis, is reviewed along with characteristics of a large, nationally ascertained cohort of families. Results from specific assessments of p53, PAX3 and MTHFR failed to suggest that these genes play a major role in NTD development in these families. Advances in genetic laboratory and statistical techniques have made this a prime opportunity for investigation into the causes of complex disorders, such as NTD. However, traditional approaches may prove to be challenging due to the difficulty of ascertaining samplable multiplex families.

Animals↗

Iodine-131-metaiodobenzylguanidine uptake in metastatic carcinoid tumor to the orbit.

Metastatic tumor is one of several etiologies of space-occupying masses in the orbit that accounts for 1%-13% of all orbital masses (1). In the adult patient population, breast cancer is the most common tumor to metastasize to the orbit followed by metastases from the lung, prostate and gastrointestinal tract (2). It is rare for carcinoid tumors to metastasize to the eye or to the orbit. Carcinoid tumors arise from Kulchitsky cells that originate in the neural crest. Histologically, these tumors resemble, but are not as aggressive as, adenocarcinomas. Most carcinoids arise in the gastrointestinal tract or the lung. The most common site for carcinoid metastases is the liver. On anatomical imaging studies, such as CT and magnetic resonance imaging, metastatic orbital carcinoid tumors appear as nonspecific tumor masses. Carcinoid tumors have an affinity for uptake of the radiopharmaceutical 131I-metaiodobenzylguanidine (MIBG) (3). We report a case of a patient with a known carcinoid tumor who developed a left orbital mass that demonstrated abnormal uptake of 131I-MIBG indicative of metastatic carcinoid tumor to the orbit.

3-Iodobenzylguanidine↗

Neuroimaging of AIDS. I. Fungal infections of the central nervous system.

Fungal infections of the central nervous system are quite uncommon and most frequently occur in immunocompromised patients, such as those with AIDS. This article outlines the most common fungal infections that occur in the central nervous system. Even though fungal infections of the central nervous system, other than cryptococcosis, are rare in the AIDS population, one should recognize the findings and consider the diagnosis.

AIDS-Related Opportunistic Infections↗

Neurosyphilis in patients with AIDS.

Syphilis has become much more prevalent because of the dramatic increase in immunocompromised patients. The increase in immunocompromised patients is mainly secondary to AIDS. This article is put forth to refamiliarize the reader with syphilis, specifically neurosyphilis. The neurologic symptomatology and neuroimaging characteristics are presented so that one can recognize the findings and consider the diagnosis of neurosyphilis when confronted with a patient with AIDS.

AIDS-Related Opportunistic Infections↗

The eighth cranial nerve.

This review discusses the eighth cranial nerve with emphasis on magnetic resonance imaging (MRI). Normal anatomy of the component nerves as well as pathology that affects it are examined. MRI techniques used to evaluate this area are also presented.

Cranial Nerve Neoplasms↗

MRI of papillary meningiomas in children.

We report two cases of papillary meningioma in children. The MRI appearance of this special type of meningioma is described for the first time. Both lesions were dura based and associated with cystic components. We review the literature pertaining to this type of meningioma and discuss the differential diagnosis of the MRI appearance. Because this is a malignant type of meningioma, early diagnosis and surgical intervention are important in the management of patients.

Child, Preschool↗

An adherence tensiometer for evaluation of burn dressings.

The measurement of adherence is a function of pulling force and velocity. The machine described measures and records adherence accurately and precisely. In both engineering and clinical laboratory tests, it has shown the ability to be used as standard equipment for quantitatively evaluating dressings and grafts. It is adapted for both laboratory and patient studies.

Animals↗

Burn wound sepsis: effect of delayed treatment with topical chemotherapy on survival.

Using a standardized laboratory rat model of burn wound sepsis, a regimen of once a day application of Silvadene has been found to be more effective treatment than Sulfamylon or cerium-Silvadene. Delaying treatment following infection resulted in decreased survival. Possible reasons for difference in mortality are once-daily application, or perhaps a change in sensitivity between drugs and the infective organism (Ps. aeruginosa) over time.

Administration, Topical↗