Danon disease: a novel Lamp-2 gene mutation in a family with four affected members.

This is a report of a family with four members affected with Danon disease and variable clinical presentations, including cardiomyopathy, skeletal muscle pathology, and hepatopathy. Analysis by electron microscopy of the quadriceps muscle from the proband and his brother showed abnormal mitochondria, and immunohistochemistry revealed no expression of LAMP-2 protein. This defect is due to a yet undescribed mutation located at the second nucleotide in the intron 8 of the Lamp-2 gene (c.1093+2 T>A) that generated exon 8 skipping confirmed at RNA level in the proband.

[Tropical endomyocardial fibrosis or Davies disease. A case report]. / Fibrosis endomiocárdica tropical o enfermedad de Davies. A propósito de un caso.

Endomyocardial fibrosis is a restrictive endomyocardial myocardiopathy of unclear etiology, it is an endemic disease in tropical and subtropical countries. The patients are usually young and the disease has an insidious onset and poor prognosis. Surgery may lead to clinical improvement and prolong life expectancy, although it is only a palliative treatment and does not stop disease progression. We present a case of endomyocardial fibrosis from Equatorial Guinea with severe clinical involvement and clear improvement following surgery. The current etiopathogenic hypothesis, the results obtained and the management of these cases, which are infrequent in Spain, are discussed. We also comment upon the differences with the historically related Loeffler syndrome according to one of the etiopathogenic hypotheses.

Accidente cerebro-vascular isquémico: una visión cardiológica / Ischaemic cerebrovascular accident: a cardiological view

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Semen analysis and cryoconservation before treatment in Hodgkin's disease.

BACKGROUND: The prophylaxis of the late effects of chemotherapy and radiotherapy has become one of the major concerns in the management of Hodgkin's disease (HD). Unlike other complications, male sterility could be managed by prior semen preservation (SP). PATIENTS AND METHODS: To evaluate the semen quality of patients with HD and the outcome of insemination, we reviewed spermograms of patients who underwent SP before any treatment. The following criteria were necessary: 1) age > 16 and < 50; 2) HD of any stage; 3) informed about male sterility after HD treatment; 4) fully consenting. RESULTS: Such a proposal was made to 316 men, and 94 fulfilled the criteria. All patients underwent an initial chemotherapy. Mean age of the cohort was 27.5 years (range 16-48 years). Pretherapeutic staging of HD revealed 38 stage I (40%), 38 II (38%), 14 III (15%) and 4 IV (4%). Semen analysis before cryoconservation showed an overall 53% of normal or subnormal cases (50 cases). The analysis of semen quality and spermatozoid amount according to various parameters failed to find a correlation with stage, B symptoms, age, or biologic data (LDH, WBC, platelets, ESR). The use of cryopreserved semen was requested by 13 patients; 88 inseminations were performed leading to 9 pregnancies and 2 births. CONCLUSIONS: The low rate of success with cryopreserved semen in these cases suggests the need for a more careful design of non-toxic chemotherapy regimens in combined modality treatment.

CarboMedics and Monostrut valves: clinical and hemodynamic outcomes in a randomized study.

BACKGROUND AND AIM OF THE STUDY: Our aim was to compare the CarboMedics (CM) and Monostrut (M) mechanical heart valve prostheses in the aortic position. These prostheses have been studied extensively in the past, both have well-defined characteristics, and have not been modified for many years. METHODS: This randomized, prospective study included 200 consecutive patients; 100 received the CM prosthesis and 100 the M prosthesis. Both groups were statistically similar in terms of age, aortic valve lesion, and preoperative clinical and surgical characteristics. Mean follow up was 5.58 years (range: 2 months to 11 years); total follow up was 1095 patient-years (pt-yr) (CM 5.33 years, 528 pt-yr; M 5.85 years, 567 pt-yr). RESULTS: Early mortality rates were 1% in the CM group and 3% in the M group. Late mortality rates were 7% and 9%, respectively. Mean (+/- SD) survival rates at 11 years were 80.51 +/- 7.36% for the CM group and 79.62 +/- 5.59% for the M group. There were no cases of mechanical valve failure in either group. The linearized rates of major thromboembolism were 1.03% and 0.20% per pt-yr for the CM and M groups, respectively; the rates of major bleeding-events were 0.71% and 0.61% per pt-yr, respectively. The rate of paravalvular leak was 0.35% and 0% per pt-yr in the CM and M groups, respectively. Postoperative NYHA class was I-II in 95.83% of CM patients, and in 94.37% of M patients. CONCLUSION: Clinical results with CarboMedics and Monostrut prostheses are highly satisfactory, but no superiority of one valve over the other can be identified.

[Combined valvular and coronary surgery]. / Cirugía valvular y coronaria asociadas.

Combined valvular and coronary surgery is more common every day. Coexistence of valvular and coronary disease makes a complex setting of physiopathological interactions, specially in the ischemic mitral regurgitation. So an ideal surgical strategy, including a thorough knowledge of valvular shape, ventricular function and myocardial reserve, as well as new mitral repair techniques and cardioplegic myocardial protection is essential. Despite these conditions, combined surgical mortality is higher than in isolated valve or coronary surgery. Severe complications in the early postoperative period and long term follow up are also more frequent. In any case, combined valvular and coronary surgery remains a challenge for surgical groups all over the world.

Ejaculatory stimulation, quality of semen and reproductive aspects in spinal cord injured men.

this is a retrospective study of 39 male spinal cord injured patients who, over the last 5 years, have consulted us for ejaculatory dysfunction or infertility. All of these patients underwent at least two distinct sessions during which attempts were made to induce an ejaculation by vibratory stimulation, electric stimulation, or by using subcutaneous physostigmine. A semen analysis was performed each time that an ejaculate was obtained. By one or more of these techniques, 75% of these subjects were able to ejaculate. The level of the neurological lesion had a significant influence on the success rate. Likewise, the mode employed to produce an ejaculation influenced certain characteristics of the sperm collected (mean volume, percentage of motile forms), the best results being obtained by vibratory stimulation. Among the 10 couples who had consulted us for medically assisted reproduction, three pregnancies were obtained, two of which resulted in the birth of healthy children. Although the techniques of stimulation that we use allow ejaculation, the possibilities of reproduction remain limited in particular because of the difficulty in obtaining semen of adequate quality. Nevertheless, recent methods of micromanipulation of gametes should considerably improve the prognosis of the seminal insufficiencies in men with spinal cord injury.

Degenerative lesions in the articular cartilage after meniscectomy: preliminary experimental study in dogs.

Articular cartilage degeneration was studied in an experimental model including 68 knees of adult dogs on which five different types of medial meniscectomy had been performed with a followup period of 10 to 450 days. The results were assessed by macroscopic, radiologic, and histologic methods. The degenerative lesions increased proportionally to the amount of meniscal tissue resected and the duration of observation. These lesions proved to be more intense at the tibial plateau compared to the femoral condyle. For both joint surfaces the predominant location was the central zone. Considering the degenerative process by the articular cartilage after total meniscectomy, maximum preservation of meniscal tissue is recommended.

Meniscal repair following meniscectomy: mechanism and protective effect. Experimental study in the dog.

Meniscal repair was studied to evaluate the mechanism and its potential protective effects on the articular cartilage in an experimental model consisting of 68 knees of adult dogs on which five different types of medial meniscectomy were performed. The results were assessed by macroscopic, microangiographic, and histological methods, after a sequential follow-up period of 10-450 days. Two different mechanisms of meniscal repair were observed, depending on whether meniscal section had been performed in vascular (total meniscectomy) or avascular (subtotal or partial meniscectomy) zones. It was also observed that the repaired meniscal tissue does not prevent articular cartilage degeneration. This is more closely related to the size of the meniscal fragment preserved at meniscectomy. Due to the biomechanical importance of the meniscus and the lack of functional relevance of the repaired meniscal tissue, the most conservative approach possible to meniscectomy is recommended.

Echocardiographically revealed collapse of the right ventricle and prolonged inversion of both atria without clinical cardiac tamponade.

In a patient with a large pericardial effusion without any clinical signs of cardiac tamponade, echocardiography revealed collapse of the right ventricle and prolonged (greater than 34%) inversion of the free wall of both atria, maximal in early systole. The presence of such findings in the absence of clinical signs of haemodynamic compromise is discussed.

[Fluorescence of the Y chromosome and male sterility]. / Fluorescence du corpuscule Y et stérilité masculine.

Barlow and Vosa's (1970) quinacrine coloration procedure was performed on human seminal smears from normal volunteers and on subjects who were selected from those couples who were consulting us for sterility. This analysis proves the specificity of the quinacrine coloration test, and reveals a significant decrease in the numbers of Y-spermatozoa in oligospermic patients with teratospermia and asthenospermia. The role of structural modifications of the chromatin in producing this effect is postulated. Particulars are given of how to perform the coloration technique on specially fixed slides and a table is given showing the frequency of spermatozoa with the Y chromosome in relationship to the parameters of the semen analysis. Furthermore the figures given in the literature by other authors are compared with those of this study and this altogether proves the reliability of the technique developed.

Resistance de la cellule hepatique du rat apres une intoxication infinitesimale au tetrachlorure de carbone / Liver cell resistence of rat before infinitesimal intoxication with carbon tetrachloride

Les auteurs ont montre au cour de ce travail que des doses infinitesimales de CCL, administrees chez le rat etaient susceptibles de creer une resistance vis-a-vis de l'administration ulterieure d'une dose toxique de cette meme substance. Cette protection a pu etre mise en evidence par l'etude du dosage des transaminases seriques et une etude histologique des foies; differentes hypotheses permettant d'expliquer ce phenomene sont envisagees

Action in vitro de dilutions infinitesimales de Phytolacca americana sur la transformation lymphoblastique a la phytohemagglutinine / Actions in vitro of infinitesimal dilutions of phytolacca americana in lynphoblast transformation of phytohemagglutinin

Des solutions de Phytolacca americana sont administrees dilutions homeopathiques 7CH et 15 CH a des cultures de lymphocytes humains stimulees par la phytohemagglutinine. On constante une inhibition statistiquement significative de la stimulation pour la dilution 7CH quel que soit le mode d'administration. La dilution 15CH est inoperant dans tous les cas etudies

[Foetal pancreas implants in an insulin-dependent patient. Technique and clinical results (author's transl)]. / Implantation de pancréas foetaux chez un diabétique insulino-dépendant. Modalité technique et résultat clinique.

Fragments of foetal pancreatic buds taken before the 10th week of gestation, stored at - 196 degrees C and cultivated on artificial media were implanted in an adult, insulin-dependent diabetic patient. Following a 2 weeks latent period, the clinical symptoms of diabetes regressed within 2 months, although all insulin treatment had been withdrawn. These results have now been maintained for 11 months, but major overloads in carbohydrates are imperfectly controlled.