Telomeric chromosome fusion in cells treated with colcemid and 5-bromdeoxyuridine

Specific chromosomes with two or more centromeres were found in the tetraploid metaphases of the second mitotic division after combined treatment with coldemid (0.05 mug/ml) and 5-bromodeoxyuridine (50 mug/ml) for 24 hours in the aneuploid Chinese hamster cell line. They were formed by telometric fusion of chromosomes and were absent in the cells treated with colcemid or 5-bromodeoxyuridine separately. A possible relation of this phenomenon to the telomeric association of chromosomes in the interphase nucleus, as well as to the chromosomal disturbances in the Louis Bar symdrome (ataxia -- telangiectasia) is discussed.     

Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome

National Health Insurance (NHI) was introduced in Taiwan on March 1, 1995. To evaluate the Influence of NHI on the volume and severity of emergency department (ED) visits, a retrospective analysis was conducted. The results showed that NHI did not result in a substantial increase in ED volume (P > .05), but the severity as measured by triage nurses did increase (P < .01). There was no change in the number of admissions to the intensive care units of patients transferred from smaller hospitals, but its percentage significantly decreased (P < .05), which may be a result of the significant increase in the total number of interhospital transfers. It was hypothesized that the universal coverage and a copayment contributed to these changes.     

Telomeric fusions in cultured human fibroblasts as a source of genomic instability

Adrenal myelolipomas are rare benign tumours that may be identified on routine imaging studies. The association of myelolipomas with obesity, hypertension and malignant tumours has been reported. We describe a giant intra-adrenal myelolipoma in a 40-year-old woman that is the largest asymptomatic tumour of this type documented in the past 10 years. To avoid unnecessary and extensive treatment, the distinction of benign from malignant adrenal tumours or extra-medullary haematopoietic tumour is important, particularly when a small, inactive adrenal mass is found incidentally.     

Drastic genetic instability of tumors and normal tissues in Turcot syndrome

Turcot syndrome is characterized by an association of malignant brain tumors and colon cancer developing in the patient's teens. Since the mechanism of carcinogenesis in Turcot syndrome is still unclear, we analysed genetic changes in tumors from a Turcot patient with no family history of the condition. All tumors, including one astrocytoma, three colon carcinomas, and two colon adenomas, exhibited severe replication error (RER), and all colon tumors showed somatic mutations at repeated regions of TGFbetaRII, E2F-4, hMSH3, and/or hMSH6 genes. Somatic APC mutations were detected in three of three colon carcinomas, and somatic p53 mutations were detected in the astrocytoma and two of three colon carcinomas, both of which showed two mutations without allele loss. We also found that normal colon mucosa, normal skin fibroblasts and normal brain tissue from this patient showed respective high frequencies of RER, in contrast to usual HNPCC patients in which RER was very rare in normal tissues. These results suggest that extreme DNA instability in normal tissues causes the early development of multiple cancer in Turcot syndrome. A missense mutation (GAG to AAG) at codon 705 of hPMS2 gene was detected in one allele of this patient, which was inherited from his mother without tumors. Additional unknown germline mutation may contribute to the genetic instability in normal tissues.     

Neuroleptic malignant syndrome associated with multiple joint dislocations in a trauma patient

The structure of the O-antigenic polysaccharide from Escherichia coli O141 has been determined. NMR spectroscopy and sugar and methylation analyses were the principal methods used. The sequence of the sugar residues could be determined by NOESY and heteronuclear multiple-bond connectivity (HMBC-) NMR experiments. The polysaccharide is composed of pentasaccharide repeating units with 1 O-acetyl group/repeating unit. The following structure, where Rha is 6-deoxymannose is concluded: carbohydrate sequence [see text].     

Ring chromosome in Turner''s syndrome with a 45,X/46,X,Xr mosaic

Expanding the "journey test", the author recommends a simple diagnostic test by which the physician can gain a quick information on the psycho-motoric-somatic status of the old patients--as evidenced by 100 cases examined. To make a journey is recommended by the physician even to old people provided the following conditions are fulfilled: I. intact capacity of reasoning; II. satisfactory somatic condition; III. ability of harmonic (co-ordinated) locomotion; IV. financial (objective) resources available for the journey.     

Hypereosinophilic syndrome in a child mosaic for a congenital triplication of the short arm of chromosome 8

Fibroblast growth factors are important heparin binding, mitogenic proteins. The binding site in heparin and heparan sulfate for fibroblast growth factor-2 (basic fibroblast growth factor) has been described as rich in glucosamine-2-sulfate 1-->4 linked to iduronic acid-2-sulfate. The glucosamine residue in the heparin binding site is also 6-sulfated. A new glycosaminoglycan, acharan sulfate, has been chemically modified to prepare a polysaccharide, N-sulfoacharan sulfate, consisting of glucosamine-2-sulfate 1-->4 linked to iduronic acid-2-sulfate. Acharan sulfate binds very weakly to fibroblast growth factor-2 while N-sulfoacharan sulfate binds with nearly the same affinity as heparin. Mitogenicity studies were performed using heparan sulfate-free cells stably transfected with fibroblast growth factor receptor-1. Acharan sulfate inhibits heparin's enhancement of fibroblast growth factor-2 mitogenic activity, without affecting cell viability, while N-sulfoacharan sulfate shows heparin-like activity but at a greatly reduced level. These results suggest additional mechanisms not requiring high affinity glycosaminoglycan binding to fibroblast growth factor-2 may be important in its mitogenic activity.     

Abnormal myelination in a patient with ring chromosome 18

BACKGROUND: Most adult anatomical texts state that the deep inguinal ring is situated midway between the anterior superior iliac spine and the pubic tubercle. The aim of this study was to determine if this was true in prepubescent children. METHODS: A total of 107 inguinal ligaments and canals were measured during inguinal operations in 80 children (68 boys, age range 1-118 months). RESULTS: The length of the inguinal ligament increased from a median of 4.3 cm (range 3.6-6.8) at less than 1 year of age to 7.5 cm (range 6.7-10.1) at over 4 years of age. The internal ring was situated medial to the midpoint of the inguinal ligament throughout childhood. The ratio of internal ring to public tubercle over inguinal ligament length was 42% (range 27-58) at less than 2 years; and 34% (range 25-46) at over 4 years. The inguinal canal remained short (median 1 cm (range 0.7-1.1) at less than 2 years, and median 1.1 cm (range 0.7-2.3) at over 4 years) suggesting that growth of the inguinal region in this age group occurs outside the canal. CONCLUSIONS: These results have implications for the siting of incisions, and question the necessity of opening the inguinal canal in children.     

Cervical laminar exostosis in multiple hereditary osteochondromatosis: anterior stabilization and fusion technique for preventing instability

PURPOSE: To describe an unusual presentation of posterior scleritis in a healthy young patient. METHOD: We reviewed the medical record of 21-year-old man for clinical presentation, course, and ancillary studies. RESULTS: The healthy patient had a painless, bilateral posterior scleritis that presented with a combination of circumscribed fundus masses and exudative macular detachment. On fluorescein angiography, different hyper-fluorescent patterns characterized the two manifestations of posterior scleritis. An ultrasound confirmed the scleral thickening. Fundoscopic abnormalities resolved with oral prednisone. CONCLUSION: Pain is not always present in this disease. A combination of exudative macular detachment and circumscribed fundus masses can be a form of presentation in posterior scleritis.     

Long-term phonatory instability in individuals with multiple sclerosis

This paper uses a new approach to describe and quantify the long-term phonatory instability of speakers with MS. Sustained vowel phonations of 20 individuals with a definite diagnosis of multiple sclerosis (MS) and 20 age- and gender-matched individuals with normal speech were recorded. The phonations were f0 and intensity analyzed and subjected to spectral analysis using the Fast Fourier Transform. Three methods for analyzing the instabilities are presented, compared, and related to perceptual judgments: (a) coefficients of variation, (b) magnitude-based analysis of spectral energy, and (c) frequency-based analysis of spectral components. All measures reliably distinguished between individuals with MS and persons with normal speech. A single factor based on a linear discriminant analysis of the frequency-based measures was especially useful in distinguishing these groups. Critical frequency bands of instability, corresponding to wow (1-2 Hz), tremor (around 8 Hz), and flutter (17-18 Hz), distinguished the MS group from those of the control group.     

A case of mosaic trisomy 2 diagnosed at amniocentesis in an abnormal fetus and confirmed in multiple fetal tissues

A female renal transplant recipient had intractable femoral neuralgia due to a large calcified disk herniation. She then developed an anterior epidural hematoma above the herniation, from T12 to L2, in the absence of clotting disorders. Spontaneous resorption of the hematoma occurred. The femoral neuralgia resolved after surgical treatment of the herniation. The location of the hematoma suggests that the calcified disk may have torn the fragilized epidural venous network.     

Laparoscopic adrenalectomy in a patient with Cushing syndrome

We present a female child with phenotypical and clinical features of the axial mesodermal dysplasia complex. Typical manifestations of both the Goldenhar syndrome and the caudal regression syndrome are present in this complex. Only a few reports have described patients with this pattern of malformations localized in both the cranial and caudal regions. Our case represents a mild form of the complex and may contribute to a better delineation of this condition.     

Turner's syndrome--case report of a female patient with chromosome mosaicism

A 45-year old woman with the typical Turner's phenotype (short stature, short and broad neck, shield chest and low hairline) and signs of ovarian failure started at the age of 37 with menopause at the age of 44, is presented. The cytogenetic analysis showed the presence of three different cell lines with 45,X, 46,XX and 47,XXX karyotypes. It is a rare type of mosaicism, combining Turner's and triple-X syndrome. Interestingly, the became pregnant and gave birth to a healthy child. Second pregnancy resulted in a miscarriage in the first trimester.     

Computer-assisted training in genetically-induced neuropsychological deficits. A case report of a patient with de Grouchy syndrome I (chromosome 18 p syndrome)

The present case study is a report on computer-based training approach in a male patient suffering from the de-Grouchy syndrome I (with a characteristic chromosomal deletion pattern), who along with psychotic symptoms displayed neuropsychological deficits. Participating in a well-established intervention programme aimed at a broad spectrum of psychological functions, the patient went through 36 training sessions. With regard to outcome assessments one focus was on improved performance in the training tasks, while the other one referred to transfer effects, as indexed by a neuropsychological test battery which was given before and after the entire programme. In both areas substantial gains from training emerged according to the collected data. In view of these results neuropsychological training approaches appear to have a perspective even in behavioural deficits with a genetic basis.     

Pure alexia and word-meaning deafness in a patient with multiple sclerosis

OBJECTIVE: To describe pure alexia and auditory comprehension problems in a young woman with multiple sclerosis (MS). PATIENT: A 33-year-old woman with MS who complained of difficulties in reading and comprehending spoken language was referred for a neuropsychological examination. Reading difficulties were confirmed and most of the reading errors were additions, omissions, and substitutions of single letters. While the patient reported that the letters seemed to disappear before her eyes, no general problems with visual attention, visual discrimination, or scanning were detected. No difficulties with spelling were reported. The auditory comprehension deficit is interpreted as a form of a semantic access disorder and is not due to generalized slowing in information processing or conceptual disintegration. CONCLUSIONS: Pure alexia is unusual in MS and to our knowledge only 1 other case has been reported (in Japanese). Memory impairments and slowed information processing are probably the most frequent cognitive sequelae of the disease and, consequently, the literature is biased toward the study of those cognitive domains. However, given the wide distribution of sclerotic plaques in MS, it could be argued that we should expect some variability of cognitive changes in MS. Striking deficits as seen in this patient should make us more sensitive to this possibility.     

Epididymocutaneous fistula in a patient with the acquired immunodeficiency syndrome and Marfan's syndrome

Epididymocutaneous fistula is a rare entity. A recent case in a patient with the acquired immunodeficiency syndrome and Marfan's syndrome led to this review. The patient's immunocompromised status as well as his past medical history necessitated special considerations in the diagnosis and management of his epididymocutaneous fistula.