An unusual case of rhabdomyosarcoma presenting as orbital apex syndrome

PRECIS: A 12-year-old female presented with symptoms and signs of orbital apex syndrome (OAS), secondary to stage IV alveolar rhabdomyosarcoma (RMS) originating in the sphenoid and ethmoid sinuses. OBJECTIVE: To present a case of alveolar rhabdomyosarcoma, unusual in its presentation as orbital apex syndrome and also its origin from the sphenoid and ethmoid sinuses. DESIGN:: Observational case report. METHODS: Ophthalmologic findings, neuroimaging, medical and surgical intervention, histopathologic analysis, and clinical course are described. RESULTS: A 12-year-old female presented with progressive visual loss in her left eye, difficulty with eye movements, and mild headache. Her examination was consistent with orbital apex syndrome. Imaging with contrast revealed a mass originating in the left sphenoid and ethmoid sinuses invading the left optic canal. Emergent biopsy was interpreted as alveolar rhabdomyosarcoma; subsequent metastatic work-up revealed bone marrow metastases. The patient was diagnosed with stage IV alveolar rhabdomyosarcoma and immediately started on combination orbital radiation therapy (RT) and systemic chemotherapy. She experienced gradual improvement of ocular motility, though her optic neuropathy persisted. CONCLUSION: Alveolar rhabdomyosarcoma of paranasal origin, specifically from the sphenoid and ethmoid sinuses, should be included in the differential diagnosis for orbital apex syndrome in children.     

Exercise induced serum enzyme changes in untrained subjects

The serum enzyme values (GOT, GPT, LDH and Aldolase) of 13 fit healthy volunteers were determined before and after physical effort of a moderate grade of 3.9 Kcal/min. The pulse rate pattern of the subjects during the exercise of climbing up and down a staircase for 30 minutes and during a 10 minute recovery phase was also recorded. The pulse pattern was in no case in excess of 150 bpm and full recovery was achieved within 10 minutes indicating that the exercise was moderate. The serum enzyme values after the exercise were raised. The difference between the exercise and rest values of the four enzyme activities were significant at the 1% level. It was observed that the raised enzyme activity level dropped to normal levels within 24 hours after the exercise. Large individual variations in the rise of these enzyme levels after exercise were observed and hence it is difficult to quantitate the phenomenon. Consequently the value of serum enzyme levels after the exercise as a practical-index of physiological strain is limited.     

Changes in serum hexachlorocyclohexane (HCH) residues in malaria spraymen after short-term occupational exposure

The use of organochlorine insecticides for public health programs is indisputably necessary in developing countries. Thus, there is a need to evaluate human response to these chemicals under local field conditions. The effects of a short-term, 16-wk exposure to hexachlorocyclohexane has been evaluated and compared in malaria spraymen with and without any previous occupational exposure to this insecticide by measuring the pre- and post-exposure serum hexachlorocyclohexane concentration. A significant increase in original serum hexachlorocyclohexane concentration. A significant increase in original serum hexachlorocyclohexane concentration was observed in subjects on their first occupational exposure (5X), compared to those with previous exposure (3X). All workers reached approximately the same serum levels within 16 wk, regardless of their history of previous exposure.     

Use of liposomal amphotericin B in bone marrow transplant

Increasing number of transplants worldwide has resulted in an increase in the incidence of fungal infections. Prolonged neutropenia, immunosuppression and graft vs. host disease all result in high predisposition to fungal infections. The likelihood of developing a fungal infection increases with the severity and duration of neutropenia, which, in the case of cancer or chemotherapy for the treatment of hematological malignancies, can range from a few days to several weeks. Invasive fungal infections are difficult to diagnose and neutropenic patients with fever often receive empirical antifungal therapy. This provides a rationale for the prophylactic use of antifungal agents. The empirical use of liposomal amphotericin B has overcome some of the difficulties usually found in this setting. The majority of clinical efficacy data related to liposomal amphotericin B are derived from compassionate use studies and case series. The major advantage of these liposomal formulations of amphotericin B is a reduction in amphotercin toxicity. Use of liposomal amphotericin has been shown to be a cost-effective approach abroad and the same has been our experience also. Commercially ambisome and Fungisome are the only products that contain true liposomes. Unlike ambisome, which needs to be used in dose of 3 mg/kg/day Fungisome is effective in the dose of 1-3 mg/kg bodyweight. The Indian liposomal preparation has shown to be safe and effective used in over 150 transplant patients in our experience. We conclude that the liposomal amphotericin is better-tolerated and also gives,better responses in documented fungal infections.     

A young girl with hemolytic anemia and elevated hemoglobin F

The non-immune, non-spherocytic anemias result from multiple potential etiologies. We report a 16-year-old girl, who was presented with a long-standing anemia and normal blood screening tests except an elevated hemoglobin F. Her diagnosis of unstable hemoglobinopathy was made only after gene sequencing of the beta-globin chain.     

Sensitized attentional performance and Fos-immunoreactive cholinergic neurons in the basal forebrain of amphetamine-pretreated rats.

BACKGROUND: The consequences of repeated exposure to psychostimulants have been hypothesized to model aspects of schizophrenia. This experiment assessed the consequences of the administration of an escalating dosing regimen of amphetamine (AMPH) on attentional performance. Fos-like immunoreactivity (Fos-IR) in selected regions of these rats' brains was examined to test the hypothesis that AMPH-sensitized attentional impairments are associated with increased recruitment of basal forebrain cholinergic neurons. METHODS: Rats were trained in a sustained attention task and then treated with saline or in accordance with an escalating dosing regimen of AMPH (1-10 mg/kg). Performance was assessed during the pretreatment and withdrawal periods and following the subsequent administration of AMPH "challenges" (.5, 1.0 mg/kg). Brain sections were double-immunostained to visualize Fos-IR and cholinergic neurons. RESULTS: Compared with the acute effects of AMPH, AMPH "challenges," administered over 2 months after the pretreatment was initiated, resulted in significant impairments in attentional performance. In AMPH-pretreated and -challenged animals, an increased number of Fos-IR neurons was observed in the basal forebrain. The majority of these neurons were cholinergic. CONCLUSIONS: The evidence supports the hypothesis that abnormally regulated cortical cholinergic inputs represent an integral component of neuronal models of the attentional dysfunctions of schizophrenia.     

Pelvic reconstruction for massive acetabular insufficiency

Joint reconstruction for pelvic discontinuity because of massive acetabular insufficiency presents a significant surgical challenge. Using retrograde-inserted Steinmann pins to rebuild the dome may be associated with early implant failure because of insufficient mechanical stability and neurovascular injury resulting from pin misplacement. Retrograde pins cannot be placed completely across the pelvic defect. We hypothesized that large Steinmann pins placed anterograde under direct vision from the iliac crest completely across the acetabular column and floor defects would minimize the risk of early failure, and could be placed safely without the use of fluoroscopy in combination with a posterior hip approach. The purpose of our study was to review the mechanical failure and complication rates of nine patients (10 hips) treated between 1996 and 2002 for pelvic discontinuity using this pin placement technique to reinforce a cemented roof ring hip reconstruction done via a posterior approach. None of the patients had implant loosening or failure, there were no neurovascular complications, and no perioperative deaths. One patient required cup revision for recurrent dislocation. All patients were bedridden or wheelchair-bound before surgery, but regained independent household walking by 6 weeks postoperatively. Reinforcing the acetabulum with a lattice girder of anterograde pins provides safe and effective hip reconstruction.     

Calpain 10 and type 2 diabetes: are we getting closer to an explanation?

PURPOSE OF REVIEW: A variation in the gene encoding the cysteine protease calpain 10 (CAPN10) was recently linked and associated with type 2 diabetes by positional cloning. This positional cloning was a follow-up investigation to the identification of a diabetes-linked region on human chromosome 2 identified by genome-wide scanning a few years earlier. In this paper we give a general background on the genetic studies performed on CAPN10 to date, and review the most recent studies on the functional role of calpain 10. RECENT FINDING: A haplotype or haplotype combination comprising three intronic single nucleotide polymorphisms (UCSNP-43, 19, and 63) were associated with a threefold increased risk of type 2 diabetes in the population in which linkage was first found. Another polymorphism, UCSNP-44, which is in linkage disequilibrium with a coding single-nucleotide polymorphism (Thr504Ala), has subsequently been associated with type 2 diabetes in extensive meta-analyses. Meanwhile, initial studies probing the possible role of calpain-10, completely unknown at the time, are now being pursued, both in isolated cells and humans. SUMMARY: The positional cloning of CAPN10 as a candidate gene for type 2 diabetes has been particularly fruitful. Not only has it identified an important and surprising piece of the puzzle underlying the development of diabetes, but it has also modelled and paved the way for investigations concerning complex genetic diseases other than type 2 diabetes.