Lumbar intraradicular disc herniation: report of a rare and preoperatively unpredictable case and review of the literature.

BACKGROUND CONTEXT: Intraradicular lumbar disc herniation is rare, having been reported to date in only three postoperative patients. The diagnosis is typically made intraoperatively. PURPOSE: To report a fourth case of intraradicular disc herniation, to emphasize its radiological characteristics and operative findings. STUDY DESIGN: Case report. PATIENT SAMPLE: A 41-year-old female. METHODS: Retrospective case review. RESULTS: The patient underwent a second operation and intraradicular disc fragment was removed. She was completely well at her 9-month check up. CONCLUSIONS: The diagnosis, mechanism, and surgical treatment of intraradicular lumbar disc herniation are reviewed. The round shape of the sequestrated fragment, as seen on magnetic resonance imaging, may help to establish the correct diagnosis.     

Effect of torsional mode phacoemulsification on cornea in eyes with/without pseudoexfoliation

AIM: To evaluate the effect of torsional mode phacoemulsification on central corneal thickness, corneal endothelial cell density, and morphology in eyes with/without pseudoexfoliation (PEX) syndrome. METHODS: Fourty-two consecutive patients with and 42 patients without PEX as a control group scheduled for cataract surgery was studied. Phacoemulsification, using OZiL IP system, was performed with quick chop technique. Using noncontact specular microscopy, the central endothelial cell density (ECD), coefficient of variation, percentage of hexagonal cells, and the central corneal thickness (CCT) were evaluated preoperatively and postoperatively at 1, 7 and 30d. RESULTS: The ECD in PEX syndrome was statistically significantly lower than that in the control group preoperatively and postoperatively (P≤0.001). Percentage change in ECD was statistically significantly higher in PEX than that in control group after surgery follow up (P≤0.04). There was no statistically significant difference between both groups comparing percentage of hexagonal cells and coefficient of variation in the cell size before and after the surgery. At 1 and 7d after surgery, percentage change in CCT was statistically significantly higher in PEX group than that in the control group (P≤0.041). CONCLUSION: Although torsional mode phacoemulsification and intraocular lens (IOL) implantation provided a safe and favorable surgical outcome in patients with/without PEX, torsional phacoemulsification led to significantly higher ECD loss in the PEX group than that in the control group during the whole follow up period. In addition, more corneal swelling in the PEX group than that in the control group during the early postoperative period has indicated that the corneal endothelium, in presence of PEX endotheliopathy, seems to be more susceptible to the effects of phacoemulsification surgery in eyes with PEX. The increased risk of anterior chamber manipulations in patients with PEX should be taken into account for an increased risk of bullous keratopathy.     

Serum SUR1 and TRPM4 in patients with subarachnoid hemorrhage

Neurosurgical Review - Neuroinflammation plays an important role in neuronal injury after aneurysmal subarachnoid hemorrhage (aSAH). Sulfonylurea receptor 1 (SUR1) and transient receptor potential...     

Malignant hemangiosarcoma in a renal allograft: diagnostic difficulties and clinical course after nephrectomy and immunostimulation

Hemangiosarcomas are rare tumors of endothelial cell origin. To date, only 20 cases of hemangiosarcoma have been described after renal transplantation, occurring mostly in the skin or in a dialysis fistula. We report a primary metastasizing hemangiosarcoma arising from a renal allograft. The patient was treated with transplant nephrectomy, discontinuation of immunosuppression, and immunostimulation with pegylated interferon‐α‐2a and has now been in complete remission for 3 years.     

Recurrent lupus vulgaris following repeated BCG (Bacillus Calmette Guèrin) vaccination.

We report a case of lupus vulgaris following BCG (Bacillus Calmette Guèrin) vaccination on the right shoulder. The patient had a history of lupus vulgaris on his left shoulder that developed following BCG vaccination and was treated successfully eight years ago.     

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

Hereditary juvenile megaloblastic anemia due to vitamin B12 (cobalamin) deficiency is caused by intestinal malabsorption of cobalamin. In Imerslund-Grasbeck syndrome (IGS), cobalamin absorption is completely abolished and not corrected by the administration of intrinsic factor (IF); if untreated, the disease is fatal. Biallelic mutations either in the cubilin (CUBN) or amnionless (AMN) gene cause IGS. In a series of families clinically diagnosed with likely IGS, at least six displayed no evidence of mutations in CUBN or AMN. A genome-wide search for linkage followed by mutational analysis of candidate genes was performed in five of these families. A region in chromosome 11 showed evidence of linkage in four families. The gastric IF (GIF) gene located in this region harbored homozygous nonsense and missense mutations in these four families and in three additional families. The disease in these cases therefore should be classified as hereditary IF deficiency. Clinically, these patients resembled those with typical IGS; radiocobalamin absorption tests had been inconclusive regarding the nature of the defect. In the diagnosis of juvenile cobalamin deficiency, mutational analysis of the CUBN, AMN, and GIF genes provides a molecular characterization of the underlying defect and may be the diagnostic method of choice.     

Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer

BACKGROUND & AIMS: Germline mutations in the DNA mismatch repair (MMR) genes MSH2, MSH6, or MLH1 predispose to colorectal cancer (CRC) with an autosomal dominant inheritance pattern. The protein encoded by PMS2 is also essential for MMR; however, alterations in this gene have been documented only in extremely rare cases. We addressed this unexpected finding by analyzing a large series of CRCs. METHODS: Expression of MSH2, MSH6, MLH1, and PMS2 was studied by immunohistochemistry in 1048 unselected, consecutive CRCs. Where absence of MMR proteins was detected, microsatellite instability and cytosine methylation of the respective gene promoter were analyzed. The DNA of patients presenting with PMS2-deficient cancers was examined for germline and somatic alterations in the PMS2 gene. RESULTS: An aberrant pattern of MMR protein expression was detected in 13.2% of CRCs. Loss of expression of MSH2, MSH6, or MLH1 was found in 1.4%, 0.5%, and 9.8%, respectively. PMS2 deficiency accompanied by microsatellite instability was found in 16 cases (1.5%) with a weak family history of cancer. The PMS2 promoter was not hypermethylated in these cases. Despite interference of the PMS2 pseudogenes, we identified several heterozygous germline mutations in the PMS2 gene. CONCLUSIONS: PMS2 defects account for a small but significant proportion of CRCs and for a substantial fraction of tumors with microsatellite instability. However, the penetrance of heterozygous germline mutations in PMS2 is considerably lower than that of mutations in other MMR genes. The possible underlying causes of this unorthodox inheritance pattern are discussed.