A case of Menkes' kinky hair disease with a renal calculus and diverticula of the bladder

Menkes' kinky hair disease is a poor prognostic congenital disease with X-linked recessive inheritance. This disease is clinically characterized by seizures, friable hair, growth failure, mental retardation and others. Recently it has been known that this disease is also characterized by multiple diverticula of the bladder and other urological abnormalities. A 6-year-old boy was diagnosed as having Menkes' kinky hair disease at another hospital several weeks after birth because of seizures, friable hair and low serum copper level. He voided by Credé's maneuver by the nurse because he could not void for himself. He was referred to our hospital for macrohematuria and micturition pain on October 8, 1989. Right renal staghorn calculus and multiple diverticula of the bladder were found by roentgenographic examination. He has been treated conservatively after discharge because of his poor condition.     

Antibacterial activity of antibacterial cutting boards in household kitchens

We examined antibacterial cutting boards with antibacterial activity values of either "2" or "4" in compliance with the JIS Z 2801 standard, and compared their findings with those of cutting boards with no antibacterial activity. These cutting boards were used in ten different households, and we measured changes in the viable cell counts of several types of bacteria with the drop plate method. We also identified the detected bacterial flora and measured the minimum antimicrobial concentrations of several commonly used antibacterial agents against the kinds of bacteria identified to determine the expected antibacterial activity of the respective agents. Cutting boards with activity values of both "2" and "4" proved to be antibacterial in actual use, although no correlation between the viable cell counts and the antibacterial activity values was observed. In the kitchen environment, large quantities of Pseudomonas, Flavobacterium, Micrococcus, and Bacillus were detected, and it was confirmed that common antibacterial agents used in many antibacterial products are effective against these bacterial species. In addition, we measured the minimum antimicrobial concentrations of the agents against lactobacillus, a typical good bacterium, and discovered that this bacterium is less sensitive to these antibacterial agents compared to more common bacteria.     

Langerhans cell histiocytosis of the skull on cytologic squash preparations

We present a case in which a primary cytodiagnosis of Langerhans cell histiocytosis (LCH) of the skull was made using squash preparations. The patient, a 25-year-old male, presented with raised intracranial pressure and decreased visual acuity. Magnetic resonance imaging revealed a large skull lesion with osteolytic features in the left frontal bone. The patient underwent surgical resection by the extended basal frontal epidural approach. The squash preparation smears were cellular and demonstrated a mixed population of small, mature lymphocytes, eosinophils, and a high histiocytes content. The histiocytes occurred as isolated or loosely cohesive and clustered. They possessed abundant cytoplasm with rounded cell shape and had characteristic nuclear features, composed of fine chromatin and delicate nuclear membranes. The cytologic features of these histiocytes were consistent with Langerhans cells (LCs). A final impression of LCH of the skull was rendered. Subsequent histopathology confirmed the diagnosis. LCs reacted with both S-100 protein and CD1a immunohistochemically. The demonstration of Birbeck granules on electron microscopic study was also noted. Whenever squash preparation yields a mixed population of mature lymphocytes, eosinophils, and histiocytes, the cytologists should be aware of and consider LCH as a diagnostic possibility.     

Feasibility of a percutaneous technique for repairing proximal femora with simulated metastatic lesions

Fracture of the proximal femur due to metastatic disease is a significant cause of morbidity and mortality among breast cancer patients. Prophylactic surgical fixation is advised for patients at risk of fracture and typically involves placement of an orthopaedic implant. We propose that some proximal femora with metastases can be repaired by removing the lesion and filling the resulting defect with bone cement (polymethylmethacrylate), a procedure that could be performed percutaneously without the use of hardware. We studied the strengths of 12 matched pairs of cadaveric proximal femora under single-limb stance loading. One femur from each pair remained intact, while a simulated metastatic lesion, measuring approximately 75% of the neck diameter, was burred into the neck of the contralateral femur. The defects were repaired using a procedure similar to the one proposed. Femoral strength was measured via mechanical testing to failure. The strengths of the repaired femora averaged 94.7% of the strength of their respective contralateral intact femur (standard deviation, 8.7%). These findings suggest that the proposed procedure may be useful for some patients with metastases in the femoral neck. If the proximal femur could be safely repaired using the proposed technique in place of conventional surgical fixation, the patient would benefit from a shorter and less invasive surgical procedure, less pain and discomfort, greatly reduced recovery time, and a shorter hospital stay-all at a much lower cost.     

Vitamin D receptor polymorphism among rickets children in Mongolia

BACKGROUND: It was reported that 32% of children under five years old in Mongolia had symptoms of rickets. Vitamin D receptor (VDR) gene polymorphism has received attention in relation to bone metabolism. We therefore investigated whether VDR polymorphism is related to high prevalence of rickets in Mongolia and to bone properties in childhood. METHODS: We conducted a case-control study in Ulaanbaatar involving 80 children aged 7-10 years with a history of rickets (cases) and 72 children with no history of rickets (controls). VDR polymorphism was assessed using BsmI, ApaI, and TaqI, and bone properties were determined by measuring age standardized tibial cortical speed of sound (TCSOS). FINDINGS: Each allelic frequency was verified to satisfy the Hardy-Weinberg equilibrium in cases, controls, and the total sample. The VDR polymorphisms among cases (BB 3%, Bb 18%, bb 80%; AA 15%, Aa 38%, aa 47%; and TT 81%, Tt 17%, tt 3%) did not differ significantly from those among controls (BB 1%, Bb 13%, bb 86%; AA 16%, Aa 46%, aa 38%; and TT 86%, Tt 13%, tt 1%). There were no significant differences in TCSOS according to the VDR genotype among either cases or controls. CONCLUSIONS: The VDR polymorphism does not play a major role in the development of rickets in Mongolia and has no effect on TCSOS in childhood.     

A case of nephrotic syndrome due to lupus nephritis which was controlled with low-density lipoprotein apheresis.

Our report discusses a 29 year old female patient with nephrotic syndrome due to lupus nephritis, biopsy-proven World Health Organization classification Types IVb and V that was controlled with low-density lipoprotein (LDL) apheresis. She was initially treated with steroid therapy, including methylprednisolone pulse therapy, and the serological activity of her systemic lupus erythematosus was suppressed. However, her nephrotic state, accompanied by severe hyperlipidemia, persisted despite the steroid therapy. Since we could not obtain her consent to administer immunosuppressants such as cyclophosphamide, we tried to treat her using LDL apheresis (LDL-A). We found that her urine protein excretion, hyperlipidemia, hypoalbuminemia, and renal function improved following the initiation of LDL-A. This suggests that LDL-A may be an effective therapy for nephrotic syndrome due to lupus nephritis through short-term amelioration of hyperlipidemia.