Schistosomiasis: an unusual cause of tubal infertility

A case report of a Nigerian woman having an unusual cause oftubal infertility is presented. On histological examinationof the Fallopian tube, ova of Schistosoma haematobium enclosingliving miracidia were found in the smooth muscle layer of theFallopian tube and its mesosalpinx. Mechanisms of tubal involvementare analysed. The case indicates the need to consider schisto-somiasisas a possible aetiological factor in patients with tubal infertilitycoming from areas where the disease is endemic.     

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain

A frame-shift 9254del5 mutation was independently identified in 12 families, eleven of them with Spanish ancestors, in a BRCA2 screening performed in 841 breast and/or ovarian cancer families and in 339 women with breast cancer diagnosed before the age of 40 at different centers in France and Spain. We sought to analyze in detail the haplotype and founder effects of the 9254del5 and to estimate the time of origin of the mutation. Eight polymorphic microsatellite markers and two BRCA2 polymorphisms were used for the haplotype analyses. The markers were located flanking the BRCA2 gene spanning a region of 6.1 cM. Our results suggest that these families shared a common ancestry with BRCA2 9254del5, which is a founder mutation originating in the Northeast Spanish, with an estimated age of 92 (95% CI 56-141) generations.     

Diagnostic performance of arginase activity in colorectal cancer

Arginase activity was measured in serum and biopsy from healthy individuals and colorectal cancer patients. Arginase activity in tumor samples (87±7.7 U/g tissue) was significantly higher than in controls (40.7±3.3 U/g tissue). However, serum arginase activity did not show any significant change in both groups. Finally, the micromethod used to quantify arginase activity in this study is superior to other methods because it has increased sensitivity, requires less sample, and is less time-consuming. Arginase differences are significant, according to the t-test (P<0.05). Received: 14 September 2001 / Accepted: 6 February 2002     

A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring short attacks of fever and serositis. Secondary AA amyloidosis is the worst complication of the disease and often determines the prognosis. The MEFV gene, on chromosome 16p13.3, is responsible for the disease and around 30 mutations have been reported to date. Colchicine is the standard FMF treatment today, and prevents both attacks and amyloid deposition in 95% of patients. Here we describe a three-generation Spanish kindred with five family members affected by a severe periodic inflammatory disorder associated with renal AA amyloidosis and colchicine unresponsiveness. Clinical diagnosis of definite FMF disease was made based on the Tel-Hashomer criteria set. Genetic analyses revealed that all subjects were heterozygous for the new H478Y MEFV variant, segregating with the disease. In addition, mutations in the TNFRSF1A and CIAS1/PYPAF1/NALP3 genes, related to the dominantly inherited autoinflammatory periodic syndromes, were ruled out. However, the dominant inheritance of the disease, the long fever episodes with a predominant joint involvement, and the resistance to colchicine in these patients raise the question of whether the periodic syndrome seen in this kindred is a true FMF disease with unusual manifestations or rather another MEFV-associated periodic syndrome. We conclude that the new H478Y MEFV mutation is the dominant pathological variant causing the inflammatory periodic syndrome in this kindred and that full-length analyses of the MEFV gene are needed to obtain an adequate diagnosis of patients with clinical suspicion of a hereditary periodic fever syndrome, especially those from non-ancestral populations.     

Effect of dry cleaning on mite allergen levels in blankets

Since one of the greatest reservoirs of allergens is the blanket, we assessed mite allergen levels in dust collected from five blankets by vacuuming before and after dry cleaning with perchlorethylene and compared the results with five control blankets. Assays with monoclonal antibodies showed that group I ( Der p I and Der f I) mite allergen levels per g dust were 78%, lower after dry cleaning. Group 1 allergen levels per m² of dry-cleaned blankets were 98% lower. RAST inhibition showed that total allergen levels decreased 70% after dry cleaning. Mite allergens were not denatured by perchlorethylene. The effect of dry cleaning resulted from physical washing out of dust and allergens.     

Expression of the proteoglycans versican and mel-CSPG in dysplastic nevi

Nevi with architectural disorder and cytologic atypia of melanocytes (NAD) (also called dysplastic nevi) have been controversial with regard to their relationship with melanoma risk and to their gradation in 3 degrees of atypia. Versican and the melanoma-associated proteoglycan (mel-CSPG) are 2 major proteoglycans expressed by malignant melanoma, and they have a role in the regulation of cell adhesion, migration, and differentiation. We evaluated the differences in versican and mel-CSPG expression in nevi, NAD with several degrees of atypia, and primary malignant melanoma. Immunoreactivity for versican was negative in benign melanocytic nevi, positive in NAD (ranging from weakly to intensely positive), and intensely positive in malignant melanoma. Immunostaining for mel-CSPG was negative in benign melanocytic nevi and mild to moderately positive in NAD and melanoma. Our results suggest that versican expression may be of value for distinguishing NAD from benign melanocytic nevi and for distinguishing severe NAD from mild and moderate NAD.     

Motor reflex responses elicited by cutaneous stimulation in the regenerating nerve of man: Axon reflex or ephaptic response?

In 57 of 60 nerves (29 median and 31 ulnar) sutured at the wrist, forearm and arm, we recorded motor responses in thenar or hypothenar muscles by electrical stimulation of the corresponding fingers. Recordings were made at different times during the process of regeneration, ranging from 3 months up to 11 years. The responses showed a constant shape and latency to every stimulation (simple or repetitive). The latency was shorter the more distal the level of injury and the greater the elapsed time from the reinnervation. The point of "reflexion" of the responses is at or very near the line of nerve suture. The electrophysiological behavior of the responses fits well with either the criterion of axon reflex or ephaptic response. We discuss both possibilities and conclude that it is not possible, with the electrophysiological technique that we used, to distinguish between an axon reflex and an ephaptic response.     

Coloanal anastomosis after resection of low rectal cancer in the elderly

Twenty-two patients had coloanal anastomoses performed after resection of low rectal tumors (16 adenocarcinomas and 6 large degenerated villous adenomas). The patients had an average age of 72 years (range: 62–85). A hand-sewn anastomosis was performed between a J-shaped colonic reservoir and the anal sphincter, except in 3 patients who underwent a straight end-to-end coloanal suture without pouch. A defunctionalized stoma was made in 18 cases. Mortality within 30 days of operation was 9%. Specific complications occurred in 2 patients (9%). Mean follow-up in this series was 20.2±11.7 months (± standard deviation). Fifteen patients were alive and free of disease up to 54 months after surgery. One patient was found to have local recurrence at 19 months. The actuarial 3-year survival rate was 73% in the whole group (operative mortality included). Functional results were good in 16 of 19 patients, with an average 1.8–2.9 stools/24 hours and the continence rate was good. Three patients had complications requiring a permanent colostomy. From these preliminary results, coloanal anastomosis appears to be satisfying in regard to oncologic results and affords good anal function, even in the elderly patient (over 62 years of age).

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Resumen Veintidos pacientes fueron sometidos a anastomosis después de la resecciôn de tumores rectales bajos (16 adenocarcinomas y 6 grandes adenomas vellosos con degeneración carcinomatosa), con edad promedio de 72 años (rango: 62–85). Se practicó anastomosis manual entre un reservorio colónico construído en forma de J y el esfínter anal, excepto en 3 pacientes sometidos a sutura colo-anal términoterminal sin construcción de bolsa. Se practicó un estoma de funcionante en 18 casos. La mortalidad en los primeros 30 días después de la operación fue 9%. Se presentaron complicaciones específicas en 2 pacientes (9%). El seguimiento promedio en la serie fue de 20.2±11.7 meses (± de). Quince pacientes se encuentran vivos y libres de enfermedad hasta por 54 meses. Un paciente demostró recurrencia local a los 19 meses. La tasa actuarial de sobrevida a 3 anos es de 73% para el grupo total (incluyendo la mortalidad operatoria). Los resultados funcionales fueron buenos en 16 de 19 pacientes, con un promedio de 1.8 a 2.9 deposiciones/24 horas y buena continencia. Tres pacientes presentaron complicaciones que requirieron colostomía permanente. Según estos resultados preliminares, la anastomosis colo-anal aparece como un procedimiento satisfactorio en relación con los resultados oncológicos y provee buena función anal aun en el paciente anciano (mayor de 62 años).

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Résumé Vingt-deux patients ont eu une anastomose coloanale après résection d'une tumeur rectale basse (16 adénocarcinomes et 6 tumeurs villeuses larges dégénérées). L'âge moyen des patients était de 72 ans (extrêmes 62 et 85 ans). Dix-neuf patients ont eu une anastomose manuelle entre un réservoir colique en J et le canal anal, alors que 3 ont eu une anastomose manuelle termino-terminale coloanale sans réservoir. Une colostomie de décharge a été ajoutée dans 18 cas. La mortalité des 30 premiers jours postopératoires a été de 9%. Deux patients (9%) ont eu des complications spécifiques. La survie moyenne a été de 20.2±11.7 mois (± ET). A 54 mois, 15 patients sont en vie et sans maladie. Une récidive locale a été décelée chez un patient à 19 mois. La survie actuarielle à 3 ans est de 73% pour l'ensemble des patients (mortalité opératoire incluse). Les résultats fonctionnels étaient bons chez 16 des 19 patients. Ces patients avaient en moyenne 1.8 à 2.9 selles par 24 heures et la continence était bonne. Trois patients avaient des complications nécessitant une colostomie permanente. D'après ces premiers résultats, il semble que l'anastomose coloanale donne de bons résultats du point de vue oncologique avec conservation d'une fonction sphinctérienne satisfaisante, même chez le patient âgé (plus de 62 ans).

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Presented at the Société Internationale de Chirurgie in Toronto, Ontario, Canada, September, 1989.     

S-laminin and N-acetylgalactosamine located at the synaptic basal lamina of skeletal muscle are involved in synaptic recognition by growing neurites

Summary The purpose of the work reported here is to identify molecular components of the synaptic basal lamina of skeletal muscle fibres which allow recognition of original synaptic sites by regenerating motor axons. We focused on s-larninin and components recognized by the lectinDolichos biflorus agglutinin previously shown to be specifically located at the synaptic basal lamina. We used a cryoculture bioassay in which chick ciliary ganglion neurons grow on rat skeletal muscle cryostat sections. In control cultures, neurites extended over the muscle sections in close association with the muscle cell surface. It was observed that most of the neurites that extended towards the endplate zone and reached an area of 40 m around the neuromuscular junction ceased to grow when they contacted the synaptic site. Masking either lectin receptors or some s-laminin molecule epitopes prior to the culture of neurons alters the behaviour of growing neurites. On sections treated either withDolichos biflorus agglutinin or anti s-laminin monoclonal antibodies (D5 and C4) most of the neurites did not stop their growth at the synaptic regions. Moreover, treating muscle sections withDolichos biflorus agglutinin removed the gradient of substratum affinity around the endplate. These results indicate that the s-laminin andDolichos biflorus agglutinin receptors present on muscle cell surfaces may play a functional role in the interaction of growing neurites with original synaptic sites in the process of neuromuscular regeneration.     

Biosocial aspects of domestic violence

Domestic violence, defined as acts of verbal abuse and physical violence performed against women by current intimate main partners, was surveyed by means of the Conflict Tactics Scale. We examined the relationships between a biological variable (testosterone level), social variables (demographics, social integration), and behaviour (substance use) and self-reported domestic violence. Forced-entry OLS regression models allowed us to study how social and behavioural variables modified the effects of testosterone on this specific violent behaviour.The sample consisted of 54 men who had a main sexual partner and who identified themselves as Black, White, or Hispanic. The men were recruited from various social-service-agency sites in the area of Miami, Florida, on the basis of their risk factors for HIV/AIDS. The sample can best be described as culturally diverse men of low socioeconomic status who had a main sexual partner. A high percentage of participants reported some level of both verbal and physical aggression towards their partners. Testosterone levels were significantly associated with levels of both verbal aggression and physical violence self-reported by the men. Testosterone level, demographic characteristics, and alcohol consumption contributed to explaining the variance in self-reported verbal and physical abuse. The high heritability of testosterone level and its association with violent behaviour warrant the inclusion of this variable in studies of antisocial and criminal behaviour including domestic violence.