Double supernumerary isodicentric chromosomes derived from 15 resulting in partial hexasomy

We report two unrelated patients each with two supernumerary marker chromosomes (SMCs) derived from chromosome 15, and thus resulting in partial hexasomy. Hexasomy in the one case (family 1) was diagnosed at prenatal diagnosis and did not include the Prader-Willi/Angelman critical region (PWACR). The double SMCs were also found in the mother, the pregnancy continued to term, and an apparently phenotypically normal child was born. This represents the first report of transmission of double SMCs from mother to child. In the second case (family 2), the hexasomy did include the PWACR and was de novo in origin. This patient manifested severe psychomotor retardation, clefting of the soft palate, hypotonia, seizure-like episodes, and other phenotypic features. The aberrant phenotype is attributable to the hexasomy for the PWACR gene loci. The normal homologs of chromosome 15 proved to be biparental in origin while the two SMCs appeared maternal.     

Cytopathologic analysis of paraspinal masses: a study of 59 cases with clinicoradiologic correlation

Paraspinal masses (PSM) are uncommon and present a wide spectrum of differential diagnoses on fine-needle aspiration (FNA). We analyzed 59 cases of PSM on FNA in a 15-yr period, in the context of clinicoradiologic correlation. Radiologic findings, clinical data, and tissue biopsies were reviewed. Patients were 14-83 yr of age (mean 54.7) with a M:F ratio of 1.36:1. Of the 59 cases, 39 (66%) were deemed diagnostic. Of these, 8 (21%) revealed nonneoplastic lesions and 31 (79%) yielded neoplasms: 2 (6%) benign and 29 (94%) malignant. Of the malignant cases, 22 (76%) were metastatic tumors from various sites, while 7 (24%) were cancers from local spread, which included non-Hodgkin's lymphoma (NHL, 5) and myeloma (2). Benign neoplasms were nerve sheath tumors. Metastatic tumors consisted of adenocarcinoma, 9; squamous-cell carcinoma, 3; renal-cell carcinoma, 1; and non-small-cell carcinoma/not otherwise specified (NOS), 9. Twenty-four (41%) cases received further studies: immunoperoxidase (IPOX) alone, 17 (71%); special stains for microorganisms, 2 (8%); IPOX/other special stains, 4 (17%); and flow cytometry analysis, 1 (4%). Eight (14%) cases received follow-up biopsies. Half of these biopsies added information to previously "nondiagnostic" FNAs. Of the previously "diagnostic" FNAs, tissue biopsy yielded no additional information. Cytopathologic diagnoses were consistent with the pre-FNA radiology analyses in 13 (39%) cases. In instances of radiologic and cytopathologic discrepancy (4 cases, 12%), diagnoses made by FNA reversed the initial radiologic impression of neoplasm to infection, and vice versa. PSMs are rare lesions (0.26% of total FNAs done in 15 yr at our institution). The most common lesion encountered is metastatic adenocarcinoma, followed by NHL. Ancillary studies are helpful in difficult cases. In cases of radiologic/cytopathologic discrepancy, FNA diagnoses are more accurate and decisive for patient management. The sensitivity and specificity of a PSM FNA are 88% and 75% respectively.     

Human leukocyte interferon-α in cream,for the treatment of genital warts in asian women a placebo-controlled,double-blind study

The purpose of this double-blind, placebo-controlled study was to determine and compare the clinical efficacy and tolerance of human leukocyte -interferon (incorporated 2 × 10⁶ IU/g) in hydrophilic cream to cure genital warts. Preselected Asian female patients (n=150) aged 18–40 years (mean 22.5), with the clinical and biopsy-confirmed diagnosis of genital warts (mean 2.64), predominantly flat vaginal condylomas, were randomly allocated to 3 parallel groups. Each patient was given a coded tube containing 80 g placebo/active preparation with a graduated applicator. Patients were instructed to inject 6 g of the either alloted placebo/active cream deep into the vagina thrice a day for 3 consecutive days (group A) or 4 consecutive days (group B) per week, and if not cured the same treatment was extended to 3 more weeks (maximum 4 weeks active treatment). To assess the clinical efficacy patients were examined on a week-to-week basis. A total clearance of warts (biopsy-confirmed) was evaluated as a complete cure. Patients cured during the treatment were spared further treatment and were requested to visit us after 16 weeks for relapse control. As for the remaining patients, empty tubes were collected, and similarly coded replacement tubes were given for further treatment (in total 588 tubes were used). By the end of the treatment 57.2% lesions (227/397) were eliminated in all the groups: 48% patients in group A, 90% patients in group B, and 10% patients in placebo groups taken as completely cured. Of the 150 patients 128 (85.3%) did not complain of any drug-related adverse symptoms. Transitory increase in body temperature (mean 38.4°C), accompanied by headache (14.6%) and generalized itching (6.6%) were the most frequently reported side effects; however, treatment was well tolerated by all the patients, and there were no dropouts. Our findings indicate that clinical efficacy is dose dependent, that is, the results of group B were significantly superior to that of group A (P < 0.05). Of the 49.3% cured patients (74/150) followed up for 6 months (monthly basis) seven had a relapse, and none had reinfection. It is concluded that clinical efficacy of leukocyte interferon-a to cure genital warts is dose dependent. These results further support the view that leukocyte interferon-a incorporated in hydrophilic cream can be considered a reliable, safe, and home-based treatment to cure vulvar and vaginal warts.Abbreviation HPV human papillomavirus     

The family attitudes towards febrile convulsions

Giving adequate information about febrile convulsion and its prognosis would be helpful in alleviating parental stress, and would contribute to decrease in the morbidity of febrile convulsion. In this study, the knowledge level of parents on taking body temperature, and decreasing high fever, their attitudes during febrile convulsion and the impact of febrile convulsion on parents are evaluated. One hundred seventy-four parents of 132 children with FC were enrolled in the study. Twenty-seven per cent of parents had no thermometer at home, 32.8% of them did not know how to take a temperature, 72.2% of them did not know the minimum range of increased body temperature, and 69.5% of them did not know how to decrease the increased body temperature. Thirty-six percent of parents recognised the convulsions when their children suffered from them, the others assumed the convulsion were fainting spells (6.9%), near death state (38.5%) and suffocation (18.4%). Thirty-six per cent of parents brought their children to the hospital without doing anything themselves. Most parents (91.4%) had a fear of a recurrence of febrile convulsion in their children. Seventy-four per cent of parents complained of insomia, 24.3% parents had dyspeptic symptoms even 14 parents had weight loss due to dyspepsia.     

Facial Nerve Monitoring under Neuromuscular Blockade

The characteristics of facial nerve electromyography at various levels of neuromuscular blockade are unclear. Partial blockade is well known to facilitate anesthetic safety and management. However, the use of neuromuscular blockage in many skull base procedures is avoided to allow intraoperative facial nerve monitoring.We studied the influence of various levels of neuromuscular blockade on facial nerve stimulation in the New Zealand white rabbit. The facial nerve was exposed in the middle ear of six rabbits. Using electromyographic-type facial nerve monitor, we recorded the facial electromyography signals in these rabbits at increasing levels of vecuronium-induced neuromuscular blockade. All animals demonstrated reliable facial electromyography response at all levels of partial neuromuscular blockade (P < .02). Five of the six animals could be monitored throughout complete blockade. These results clearly demonstrate that rabbit facial electromyography monitoring is possible under neuromuscular blockade. The effect of neuromuscular blockers on facial electromyography monitoring deserves further study, as partial blockade would greatly facilitate the management of anesthesia in otologic, neurotologic, and skull base surgery.     

Cancer-associated retinopathy

Patients with systemic cancer may have a variety of ocular complaints. Most commonly these are metastases or adverse effects of therapy. Paraneoplastic syndromes, like cancer-associated retinopathy, rarely cause ophthalmic symptoms. We describe a patient with a malignant mixed mullerian tumor and cancer-associated retinopathy who had circulating serum antibodies to recoverin and cells positive for recoverin in the tumor. We discuss the typical clinical symptoms as well as the pathophysiology of this uncommon disorder.     

Hypozincaemia in febrile convulsion

To understand further the role of trace elements in the pathogenesis of febrile convulsions, serum zinc (Zn), copper (Cu), magnesium (Mg) and CSF Zn, Cu, Mg and protein levels were measured by spectrometry in patients with febrile convulsion (n=19), bacterial meningitis (n=9), viral CNS infection (n=16) and in the control groupn=10) which consisted of children with signs of meningeal irritation due to upper respiratory tract infection but normal CSF findings. Samples were obtained within 6 h after admission to hospital. Mean serum and CSF Zn levels in the febrile convulsion group were significantly lower than in the other groups (for serum Zn: 0.66±0.03 mg/l vs 0.98±0.07 mg/l, 1.06±0.08 mg/l, 1.05±0.09 mg/lP<0.05; for CSF Zn: 22.96±1.62 g/l vs 75.47 ±6.9 g/l, 50.32±5.235 g/l, 39.85 ±2.81 g/lP<0.05). A linear relationship was established between serum Zn and CSF Zn levels (P<0.001). Mean CSF Zn, Cu and protein levels in the bacterial meningitis group were significantly higher than in the other groups (for CSF Cu 63.94±6.33 g/l vs 38.77±2.70 g/l, 35.84±3.48 g/l, 33.86±2.88 g/lP<0.05; for CSF protein 0.80 ± 0.12 g/l vs 0.22±0.02 g/l, 0.53±0.08 g/l, 0.19±0.01 g/lP<0.05). In children with meningitis, the elevation of the mean CSF Zn and Cu levels may result from the breakdown of the blood-brain barrier and subsequent leakage of trace elements and protein from serum to CSF. There was no significant difference between the four groups in terms of mean serum Mg and mean CSF Mg levels.Conclusion Serum and CSF Zn levels are decreased in children with febrile seizures. Zinc deprivation may play a role in the pathogenesis of febrile seizures.     

Organophosphate pesticide dichlorvos-induced increase in the rate of lipid peroxidation in the different regions of the rat brain: supporting ultrastructural findings

Commonly used organophosphate pesticide dichlorvos is known to cause neurologic lesions. However, the exact mechanism of its neurotoxicity is, as yet, unclear. Using dose-dependent inhibition of acetylcholinesterase activity as an index of its neurotoxicity, effects of three different doses of dichlorvos (0.6 mg, 1.5 mg, and 3.0 mg/kg body weight i.p. daily for 10 days) have been observed on the rate of lipid-peroxidation in the cerebrum, cerebellum and brain stem of albino rats. Simultaneously, electron microscopic study of the dichlorvos intoxicated rat cerebellum was also carried out. Dose-dependent increase in the rate of lipid peroxidation was found in all the brain regions, and increased incidence of lipofuscin-like pigment granules was discernible in the Purkinie cells of the cerebellar cortex.