Lack of association of MTHFR rs1801133 polymorphism and CTCFL mutations with sperm methylation errors in infertile patients

Purpose

To find out whether the MTHFR rs1801133 polymorphism is a risk factor for male infertility in the Spanish population. To determine if a pattern of sperm DNA hypomethylation at the paternally imprinted loci H19-ICR and/or IG-DMR is related to the MTHFR rs1801133 polymorphism and/or CTCFL mutations.

Methods

One hundred and seven samples from individuals who sought consultation for fertility problems and twenty-five semen samples from sperm donors were analyzed. The MTHFR rs1801133 SNP was analyzed in all samples by the PCR-RFLP method. We compared the distribution of the genotypes between control and infertile populations and among the groups of patients with altered seminal parameters. In those patients with the most severe hypomethylation pattern (n = 12) we also analyzed the CTCFL protein-coding exons by sequencing.

Results

There were no significant differences in the distribution of the genotypes among the control and infertile populations. Moreover, none of the genotypes were associated, neither to the characteristics of the seminogram, nor to the presence of sperm DNA hypomethylation. We did not identify frameshift, nonsense or missense mutations of the CTCFL gene.

Conclusions

The MTHFR rs1801133 polymorphism is not associated with male infertility in the Spanish population. Neither the MTHFR polymorphism, nor CTCFL mutations explain a pattern of sperm hypomethylation at paternally imprinting loci.

Electronic supplementary material

The online version of this article (doi:10.1007/s10815-013-0013-2) contains supplementary material, which is available to authorized users.     

Cryoconservation ovarienne : évaluation de deux techniques chirurgicales

ObjectivesTo evaluate various surgical techniques for partial oophorectomy cryopreservation. To evaluate the consequences of prior exposure to cytotoxic therapy on the quality of the ovary removed.Patients and methodsSingle center retrospective observational study over 4 years of women who had ovarian cryopreservation surgery for chemotherapy or radiotherapy which were at high risk of premature ovarian failure. Several techniques have been proposed: partial oophorectomy with clamping of the vascular gonadal pedicle (indirect tissue sample) without clamping (direct tissue sample) and partial oophorectomy with an automatic stapler. Ovarian tissue was immediately prepared for cryopreservation in the operating theatre. The whole sample was divided into small slices. For each ovary, a count of small slices was made. Additionally, one slice was examined to determine the presence of primordial follicles.ResultsOvary was successfully removed and cryopreserved in 13 patients. Two bleeding events occurred with the direct technique, without consequences for patients. The number of fragments obtained between indirect and direct techniques was respectively 19 vs 15, P = 0.18; the number of primordial follicles was 38 vs 36, P = 0.87. The automatic stapler consumed too much ovarian tissue to be interesting. There were fewer fragments, 15 vs 20, P < 0.05 and primordial follicles, 35 vs 40, P = 0.65, after a first cycle of chemotherapy.Discussion and conclusionThe vascular clamping technique is safer but with no difference in the quality of the sample tissue. One cycle of chemotherapy has a pejorative impact on the quality of the sample tissue.     

Oculocutaneous albinism

Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous albinism. Aetiology, clinical manifestations, diagnosis and management are discussed.     

Chronic renal dysfunction after liver transplantation in adult patients: prevalence,risk factors,and impact on mortality

INTRODUCTION: Although chronic renal dysfunction (CRD) is a common complication among patients undergoing liver transplantation (OLT) its prevalence, risk factors, and impact on outcome have not been well defined. We aimed to assess the incidence of CRD, its associated risk factors and its impact on outcome. PATIENTS AND METHODS: The cohort of 289 consecutive adult first liver transplant patients with posttransplant follow-up longer than 6 months received cyclosporine in 230 patients (153 oil-based and 81 microemulsion formulation), tacrolimus in 55. CRD was defined as serum creatinine levels greater than 1.3 mg/dL for more than 6 months. RESULTS: After a mean follow-up of 67 months, 138 patients (47.8%) displayed CRD. The prevalence of CRD was 30.9%, 41.5%, and 38.9% at 1, 5, and 13 years after OLT, respectively. Twelve patients (4.1%) developed end-stage renal failure. Male gender, older recipient age, pretransplant renal dysfunction and hyperuricemia, posttransplant in-hospital renal dysfunction and hyperuricemia, and renal dysfunction during the first 6 months after OLT were each significantly associated with the development of CRD. Survival was significantly lower (63%) among liver transplant patients with CRD than those without this complication (71%, P=.024). CONCLUSIONS: CRD is an important cause of morbidity after OLT, although end-stage renal disease is infrequent. Because early renal dysfunction is associated with the development of CRD, and decreased long-term patient survival, efforts should be made to avoid early renal dysfunction after liver transplantation.     

Pulsatile masses surrounding vascular prostheses: real-time US color flow imaging

A prospective evaluation of color flow mapping and real-time ultrasound was performed to determine if pseudoaneurysms could be distinguished from other causes of masses surrounding vascular grafts of the lower extremities. Twelve palpable pulsatile masses were imaged. Diagnoses were confirmed at angiography (n = 11), computed tomography (n = 7), aspiration biopsy (n = 5), and operative intervention (n = 6). A swirling pattern of blood flow was seen in six of seven cases of pseudoaneurysm. Lack of flow signals was noted in four of the five collections representing hematoma (n = 2) or infection (n = 2). The seventh case was later shown to be an infected, thrombosed pseudoaneurysm. The single false-positive diagnosis was made early in the series when the flow signals detected were due to transmitted arterial pulsations. The authors conclude that color Doppler flow imaging is useful in the differential diagnosis of pulsatile masses associated with prosthetic grafts. Prosthetic graft pseudoaneurysms have a specific appearance of swirling blood flow arising from a wide neck and are distinguishable from traumatic or iatrogenic pseudoaneurysms of the native vascular tree.     

Segmental dilatation of the small bowel: report of three cases and literature review

Segmental dilatation of the small bowel is a rare congenital abnormality that occurs mainly in children and produces significant nonspecific symptoms. The authors reviewed 33 cases reported in the literature and present three new cases in which the lesion was demonstrated on radiographs obtained before laparotomy. These cases showed the spectrum of symptoms and characteristic radiologic features of this condition in both plain abdominal radiographs and barium studies. Plain radiographs of the abdomen may show an isolated loop of bowel containing an air-fluid level. The characteristic finding in barium studies of the small bowel is a localized dilatation of the small bowel lumen with afferent and efferent loops. In the absence of a complication or coexistent cause of obstruction, the transit time of contrast medium through the small bowel is not delayed. The radiologic examination is useful in diagnosis, and the condition is cured with surgery.     

Esophageal strictures in children: treatment by serial balloon catheter dilatation

Grüntzig balloon catheters were used to dilate ten esophageal strictures in eight infants and children. Five infants who had anastomotic strictures following esophageal atresia repair gained complete resolution of their strictures, usually after one or two dilatations. Three older children who had strictures following esophageal re-operation or reconstruction required longer courses of dilatations to achieve consistent esophageal patency. The technique failed in two chronic strictures of two and one-half and nine years' duration. Balloon catheter dilatation, begun in the early postoperative period, is a safe, effective method for dilating esophageal strictures.