Anonymous sperm donors' attitude towards donation and the release of identifying information.

INTRODUCTION: Belgian legislation allows only strictly anonymous gamete donation and known donation (donation to a recipient known by the donor). Recently, an amendment of the legislation was proposed to grant donor offspring, as of 18 years old, the right to claim identifying information about their donor. PURPOSE: The aim is to explore the attitude of actual sperm donors towards donation and the release of identifying information and to investigate which donors would be willing to donate when anonymity would be prohibited by law. METHODS: All men who were accepted as sperm donors (n = 242) by AZ Jan Palfijn Hospital (Ghent, Belgium) were invited to complete an anonymous online survey. The response rate was 65.5%. RESULTS: One in five (20.1%; n = 30) would continue sperm donation upon a legislation change towards identifiable donation. Three in four donors (75.2%) would agree to provide basic non-identifiable information about themselves and one in three (32.9%) would provide extra non-identifiable information such as a baby photo or a personal letter. Almost half of the donors (45.6%) would agree to donate in a system where the hospital can trace the donor at the child's request and contact the donor, leaving it to the donor to decide whether or not to have contact with the requesting donor child. CONCLUSION: These findings show that only one in five current donors would continue to donate when identifiable. The study also demonstrates that current donors think more positive about alternative options and that nearly half of them are willing to be contacted by the hospital at the donor child's request, providing the donor can decide at that time whether or not to release his identity.

[Nephrogenic syndrome of inappropriate antidiuresis: Early diagnosis avoids severe hyponatremia complications]. / Syndrome néphrogénique d'antidiurèse inappropriée : un diagnostic précoce évite les complications d'une hyponatrémie sévère.

AIM: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare disease characterized by a kidney disability to dilute urine and, as a result, severe recurrent hyponatremia. Due to wide variability in clinical expression, the diagnosis still remains a challenge for clinicians. We report our experience of a case in which NSIAD was diagnosed early. We also stress the importance of early diagnosis and treatment, which protects an infant with NSAID from severe hyponatremia. BACKGROUND: A 1-month-old boy was referred to our hospital for persistent hyponatremia and intense vomiting. He was born full term after a normal pregnancy with a normal birth weight. The parents were healthy, nonconsanguineous, of Moroccan origin. They already had healthy twin girls. The physical examination was normal upon admission with no signs of dehydration and normal weight gain since birth. Plasma sodium was very low (125mmol/L) associated with low plasma urea (5mg/dL), osmolality (258 mOsm/kg) and low natriuresis (59mmol/L). These laboratory results suggested inappropriate antidiuretic hormone secretion (SIAD) and the infant was consequently treated with oral urea (he was already receiving sodium supplements that were later stopped). Due to exclusive breastfeeding, water restriction was impossible. Further biological investigation revealed undetectable plasma arginine vasopressin (AVP), suggesting the diagnosis of NSIAD. This was confirmed by genetic sequencing of the AVP receptor (AVPR2), demonstrating the presence of an R137C mutation. CONCLUSIONS: We herein report a case of a genetic fluid balance disorder due to an activating mutation of AVPR2. NSIAD is an X-linked disease, first described in 2005 by Feldman et al., which involved severe recurrent hyponatremia. The very early diagnosis (at 7 weeks of life) and appropriate treatment with urea prevented seizures and cerebral damage due to severe recurrent hyponatremia. Clinicians should consider the diagnosis of NSIAD in infants with recurrent hyponatremia with hemodilution and low AVP serum level. Genetic analysis of the AVPR2 sequence on the X chromosome will confirm the diagnosis and, given the wide variability of clinical expression, sequencing of the family members should be done.

[Muscular metastasis]. / Les métastases des muscles striés.

INTRODUCTION: Neoplasia is quite rare in myology. For unknown reasons, muscular metastasis are rarely described in cancer. METHOD: Our work was a retrospective study with analysis of the medical literature and the presentation of one case of muscular metastasis revealed by a limitation of mouth opening in a 58-year-old Caucasian man (metastatic infiltration of the right pterygoid muscle secondary to a poorly differentiated adenocarcinoma of the lower third of the esophagus). RESULTS: In addition to our case, we found 174 cases of cancer with muscular metastasis. Most of cases were observed in males (male/female ratio=2/1). The mean age at onset was 58.5 years (range: 13-89 years). The muscular metastasis were rarely found before the diagnosis of cancer (only in 37%), and usually appeared during disease progression, with other (extramuscular) metastases in 60% of cases. Prognosis was poor with less than 2.5% survival beyond 72 months. In most cases, muscular metastasis presented as a unique (78%), painful (61%) and palpable (63%) muscular mass, even if other asymptomatic muscular metastasis could be present. The mean localization of muscular metastasis was the lower limbs (46%), particularly in the proximal part (38% of all the muscular metastasis). The most frequent cancers were localized in lung, urinary tract, digestive tract and genital tract. When the muscular biopsy showed an "adenocarcinoma", in men the primitive cancers were localized in the digestive tract (35%), kidney (20%), and lung (18%) and in women, the genital tract and breast (23.5%). When the muscular biopsy showed a "squamous-cell carcinoma", in men the primitive cancers were localized in the lung (81%) and in women the cervix (64%). CONCLUSION: These results highlight the importance of searching for muscular metastasis in patients with a focal, painful and palpable muscular mass. The muscular biopsy and immunohistochemical data can be helpful in identifying the primary cancer.

Regulation of TRP channels: a voltage-lipid connection.

TRP (transient receptor potential) channels respond to a plethora of stimuli in a fine-tuned manner. We show here that both membrane potential and the level of PI (phosphatidylinositol) phosphates are efficient regulators of TRP channel gating. Recent work has shown that this regulation applies to several members of the TRPV (TRP vanilloid) subfamily (TRPV1 and TRPV5) and the TRPM (TRP melastatin) subfamily (TRPM4/TRPM5/TRPM7/TRPM8), whereas regulation of members of the TRPC subfamily is still disputed. The mechanism whereby PIP(2) (PI 4,5-bisphosphate) acts on TRPM4, a Ca(2+)- and voltage-activated channel, is shown in detail in this paper: (i) PIP(2) may bind directly to the channel, (ii) PIP(2) induces sensitization to activation by Ca(2+), and (iii) PIP(2) shifts the voltage dependence towards negative and physiologically more meaningful potentials. A PIP(2)-binding pocket seems to comprise a part of the TRP domain and especially pleckstrin homology domains in the C-terminus.

Iatrogenic chylothorax. Etiologic and therapeutic considerations, with presentation of two clinical cases.

A case of mediastinal sclerosis after radiotherapy is presented as a curiosity in iatrogenic etiologies of chylothorax. After 7 weeks of conservative treatment, an operative pleurodesis was successful. In a second clinical case, the hazardous intra-thoracic coagulation of the chyle is illustrate. Etiology and therapeutic mangements of iatrogenic chylothorax in the literature are briefly reviewed.

Review of 1,375 cases of vascular reconstruction for ischemic disorder of the lower limbs Statistical analysis of late postoperative thromboses with evaluation of the effect of an anti-platelet agent[tauthor's transl)]. / Réflexions et commentaires concernant 1.375 cas de reconstruction vasculaire pour troubles ischémiques des membres inférieurs. Analyse statistique des thromboses tardives avec évaluation de l'effet d'un agent antiplaquettaire

The authors are presenting 1.375 cases of arterial reconstruciton of the lower limbs, those patients having undergone 1.562 operatons between 1963 and 1974. Although mention is made of long-term postoperative morbidity (false femoral aneurysm, infection, amputation), the study is mainly centered on the problem of late thromboses, calculated in percentages per year and classified according to the time lapse since the initail operation. Comparison is made between the percentages before and after 1972. Since 1972, Dipyridamol, an anti-platelet agent, has been administered systematically to all vascular reconstructions of the lower limbs. The action of this type of drug on the platelet adhesivenss is briefly treated. In this respect the numbers calculated suggests a decrease of about 25 % in the numbers of late thrombosis, all other treatment remaining unchanged for the past 11 years. In conclusion, operative indication and surgical skill remain primordial in this type of surgery. However, the anti-platelet treatment, associated with fat-free diet, no tobacco, vasodilators or anticoagulants, seems to bring a further guarantee to permeability of arterial reconstructions.

[Use of the brock punch for confection of a shunt between both ventricles, the ventricle and pulmonary artery or aorta without cardiopulmonary by-pass (CPB) (author's transl)]. / L'utilisation du punch de Brock pour la construction d'un shunt ventriculo-ventriculaire, ventriculo-pulmonaire ou ventriculo-aortique sans CEC

Use of the Brock punch for placing a graft on the ventricle is a simple and easy technique not requiring CPB. This offers large experimental possibilities with clinical applications resulting from the experience gained in the laboratory.