Effect of the Second Warm Ischemia Time and Its Components on Early and Long-term Kidney Graft Function.

BACKGROUND: During kidney transplantation, the total time of organ ischemia consists of first warm ischemia time (WIT1), cold ischemia time (CIT), and a second WIT (WIT2). Rising graft temperature during WIT2, which comprises the creation of vascular anastomoses, increases oxygen demand and tissue damage, especially in the kidney tubular cells. The aim of this study was to analyze the influence of WIT2 on early and long-term kidney graft function. METHODS: We performed a retrospective analysis of 554 consecutive adult recipients, who received their first kidney graft from a deceased donor between 2003 and 2013. RESULTS: Mean WIT2 was 25.2 min. Donors' sex, age, presence of hypertension, body mass index (BMI), and the cause of brain death showed no effect on WIT2. Weak positive correlations were found between the duration of WIT2 and both recipients' age (r = 0.11; P < .01) and BMI (r = 0.14; P < .01). Multivariate regression analysis confirmed the independent influence of age (ß = 0.107 [95% confidence interval, 0.017 to 0.197] per year; P = .02) but not BMI (P = .09). WIT2 influenced early graft function and was significantly longer in patients with primary graft nonfunction than in other recipients (35.3 vs 24.9 min; P < .01). According to receiver-operating characteristic curve analysis, a WIT2 value >26 min was predictive of primary graft nonfunction, with 64% specificity and 58% sensitivity. No correlations were found between WIT2 and estimated glomerular filtration rate in the long-term follow-up period. CONCLUSIONS: This study found that WIT2 may significantly influence the early graft function. We also found that the creation time of vascular anastomoses does not affect the long-term kidney graft excretory function.

Early and Long-Term Outcomes of Kidney Grafts Procured From Multiple-Organ Donors and Kidney-Only Donors.

BACKGROUND: The deceased-donor kidney pool consists of 2 different populations: multiple-organ donors (MOD) and kidney donors alone (KDA). In MOD, more complicated procedure and lowest priority for kidney procurement may affect graft survival. On the other hand, poor donor status and higher comorbidity are more frequent in KDA transplants. The aim of this study was to provide detailed characteristics of the 2 groups of kidney donors (KDA vs MOD) in our center and to analyze the potential influence of the donor type on the early and long-term kidney graft function and recipient outcome. METHODS: We performed a retrospective analysis of 729 first cadaveric kidney transplant recipients: 499 of them received the organ from MOD, 230 from KDA. RESULTS: The frequency of delayed graft function (DGF) was higher in KDA than in MOD transplants (38.7 vs 25.1%; P < .001). Multivariate logistic regression analysis revealed that donor age, KDA, and early acute rejection independently increased the risk of DGF occurrence, whereas recipient age and cold ischemia time increased the risk of primary graft nonfunction. Kidney excretory function was significantly worse in KDA up to 10 years after transplantation. There were no differences in kidney graft and patient survivals, frequency of proteinuria, acute rejection, and cytomegalovirus episodes, and post-transplantation diabetes. CONCLUSIONS: (1) The use of a kidney from KDA negatively affects early and late kidney graft function compared with MOD. (2) The long-term kidney graft and patient survivals are not affected by the type of organ procurement.

Hydrocephalus in a hydropic fetus with Turner syndrome: a rare association.

We report a rare case of antenatally diagnosed Turner syndrome associated with hydrocephalus. In addition, the fetus had cystic hygroma, hydrops fetalis and hypoplastic left heart syndrome. Pregnancy was terminated because of the poor outcome of the above-mentioned anomalies. A possible mechanism for the development of hydrocephalus is discussed.

Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: a new genetic syndrome?

We describe three siblings with congenital myopathy, bullous eruption of the skin, secretory diarrhea, apparent zinc deficiency, failure to thrive, deafness, and microcephaly. The parents are not consanguineous and there are no other affected relatives. This new syndrome, which follows an apparent autosomal recessive pattern, appears to be distinct from known syndromes of secretory diarrhea, myopathy, deafness, microcephaly, and zinc deficiency.

Strategies for motivating Latino couples' participation in qualitative health research and their effects on sample construction.

Many investigators report difficulties recruiting low-income Latinos into health research projects, especially when they seek to enroll more than one family member. We developed a series of strategies that proved effective in motivating candidates who were initially reluctant to enroll. There is a possibility that these strategies biased the composition of the sample. Predictably, the reasons participants gave for enrolling were correlated with the recruitment strategy that had brought them into the study. Furthermore, we found statistically significant associations between recruitment technique and key study variables (e.g., the domestic stability of the couple). By increasing investigators' ability to recruit Latinos, however, the strategies outlined should help to ensure that Latinos' experiences are given due weight in the deliberations of medical professionals and policymakers.

Holding on and letting go: identity and acculturation among Chinese immigrants.

This study addresses the general question of whether ethnic identity and general acculturation would prove unique discriminators of quality of life for Chinese immigrants. Eighty-three Chinese immigrants served as participants. Survey data were collected regarding acculturation, Asian identity, and quality of life; observers provided ratings of certain home environment characteristics; and participants responded to open-ended interview questions about their immigration experiences that allowed for qualitative data analysis on perspectives of culture. Significant analysis of covariance and post hoc comparison results revealed meaningful main effects and interactions between acculturation and Asian identity in explaining the immigrants' quality of life and ecocultural aspects of their home environments. Interview responses illuminated important distinctions between groups distinguished by level of acculturation and ethnic identity. Findings are discussed in terms of methodological and conceptual issues in studying acculturation and ethnic identity in immigration experiences and practical implications for immigrants and those working with them.

National use of the transesophageal echocardiographic-guided approach to cardioversion for patients in atrial fibrillation.

Transesophageal echocardiographic (TEE)-guided cardioversion of patients in atrial fibrillation (AF) of >2 days' duration is used as an alternative to conventional therapy. The purpose of this study was to investigate practice patterns employed for stroke prophylaxis in patients with AF who underwent cardioversion, and to determine the relative use of conventional and TEE-guided management strategies. We forwarded regionally stratified survey questionnaires to 947 clinical practices within the United States. The 10-question questionnaire queried demographic and clinical practice volumes and practices for managing patients with AF who underwent cardioversion. In addition, we used historical data to determine longitudinal use patterns of the TEE-guided approach for a large institution over 7 years. The 197 completed and returned surveys yielded a return rate of 20.8%. The TEE-guided approach was employed in approximately 12% of total cardioversions, but 75% of practices indicated that they employed transesophageal echocardiography only occasionally. The TEE-guided approach was associated with community size (r = 0.19; p<0.008), type of practice (r = 0.26; p = 0.001), total use of transesophageal echocardiography (r = 0.48; p<0.001), and volume of cardioversions (r = 0.28; p<0.001). Importantly, there was little consensus on the most appropriate clinical indications for TEE-guided cardioversions, and the proportions of TEE-guided cardioversion to total number of electrical cardioversions remained stable over 7 years. Practice volume and physician training may be the most important variables in the adoption of the TEE approach.

Ellis van Creveld syndrome (chondroectodermal dysplasia, MIM 22550) in three siblings from a non-consanguineous mating.

The major diagnostic features of Ellis van Creveld syndrome (EvC) includes disproportionate short stature, polydactyly, ectodermal anomalies, and structural heart defects. We describe three siblings with EvC of a non-consanguineous mating. The history of these siblings well illustrate the clinical manifestations and complications that children with EvC encounter. All three girls had short stature, narrow rib cage, polydactyly and nail hypoplasia. The first daughter died in early infancy in respiratory failure. The second daughter underwent open heart surgery for atrial septal defect repair. The third daughter, diagnosed in utero with fetal ultrasonography, currently is scheduled for surgical excision of extra-digits and extraction of neonatal teeth. Infant mortality rates among patients with EvC is strikingly high due primarily to cardiorespiratory failure. If they survive infancy morbidity is significant. The gene effected in individuals with EvC has recently been identified on the short arm of chromosome 4. Future testing for gene mutations may provide valuable information for premarital counseling and prenatal diagnosis. Three offspring with disproportionate short stature, polydactyly, and ectodermal dysplasia of a non-consanguineous mating, strongly indicate parental heterozygosity for Ellis van Creveld syndrome.

Isolated hypogonadotropic hypogonadism in a man with a history of head trauma during childhood.

OBJECTIVE: To report a case of isolated hypogonadotropic hypogonadism as a delayed consequence of major head injury. METHODS: We present the relevant history, findings on physical examination, and results of laboratory evaluation, and supportive data from appropriate reports in the literature are reviewed. RESULTS: A 37-year-old man with progressive loss of libido, impotence, and gradual loss of facial and axillary hair had sustained severe trauma to the head (sufficient to cause blindness in one eye) in a fall from a tree at 7 years of age. Physical examination and laboratory investigations substantiated the presence of isolated hypogonadotropic hypogonadism. Other causes of hypogonadotropic hypogonadism, including Kallmann's syndrome, were excluded. CONCLUSION: Severe head injury should be considered in the differential diagnosis of isolated hypogonadotropic hypogonadism. Long-term follow-up and endocrine assessment may be important in patients who have sustained severe head injury.

Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies.

Currently, accepted protocol which has been developed at the Prenatal Diagnosis Laboratory of New York City (PDL) requires that when a chromosome abnormality is found in one or more cells in one flask, another 20-40 cells must be examined from one or two additional flasks. Chromosome mosaicism is diagnosed only when an identical abnormality is detected in cells from two or more flasks. In a recent PDL series of 12,000 cases studied according to this protocol, we diagnosed 801 cases (6.68 per cent) of single-cell pseudomosaicism (SCPM), 126 cases (1.05 per cent) of multiple-cell pseudomosaicism (MCPM), and 24 cases (0.2 per cent) of true mosaicism. Pseudomosaicism (PM) involving a structural abnormality was a frequent finding (2/3 of SCPM and 3/5 of MCPM), with an unbalanced structural abnormality in 55 per cent of SCPM and 24 per cent of MCPM. We also reviewed all true mosaic cases (a total of 50) diagnosed in the first 22,000 PDL cases. Of these 50 cases, 23 were sex chromosome mosaics and 27 had autosomal mosaicism; 48 cases had numerical abnormalities and two had structural abnormalities. Twenty-five cases of mosaicism were diagnosed in the first 20 cells from two flasks, i.e., without additional work-up, whereas the other 25 cases required extensive work-up to establish a diagnosis (12 needed additional cell counts from the initial two culture flasks; 13 required harvesting a third flask for cell analysis). Our data plus review of other available data led us to conclude that rigorous efforts to diagnose true mosaicism have little impact in many instances, and therefore are not cost-effective. On the basis of all available data, a work-up for potential mosaicism involving a sex chromosome aneuploidy or structural abnormality should have less priority than a work-up for a common viable autosomal trisomy. We recommend revised guidelines for dealing with (1) a numerical versus a structural abnormality and (2) an autosomal versus a sex chromosome numerical aneuploidy. Emphasis should be placed on autosomes known to be associated with phenotypic abnormalities. These new guidelines, which cover both flask and in situ methods, should result in more effective prenatal cytogenetic diagnosis and reduced patient anxiety.

De novo 13q partial duplication identified by cytogenetic, biochemical and molecular approaches.

A 3.5-month-old female infant manifesting dysmorphic facies, developmental delay and failure to thrive was referred for cytogenetic evaluation. Peripheral lymphocytes revealed three chromosomally distinct cell lines: 46,XX/46,XX,10p+/47,XX,10p+,+mar. Dermal fibroblasts revealed only the 46,XX,10p+cell line. High resolution G-, R-, and Q-banding suggested that the extra chromosomal material (10p+) represented a duplication of the segment 13q14----13qter. Parental karyotypes were normal. As absolute identification of de novo chromosomal abnormalities, based solely on cytogenetic studies, is sometimes difficult, both biochemical and molecular approaches were undertaken to elucidate this abnormality in more detail. Dosage effects were examined using esterase D (localized to 13q14.1) and the DNA probes p1E8 and p9A7 (localized to 13q22 and 13q31/32, respectively). These studies suggested the presence of only 2 copies of esterase D, but 3 copies of both DNA probes, allowing identification of the breakpoint at 13q14.2.

Social and demographic aspects of a leprosy epidemic on a Polynesian atoll: implications of pattern.

This study reports the results of field research on a leprosy epidemic among the Kapingamarangi people, Polynesians living in two communities on Ponape Island and Kapingamarangi Atoll in the Federated States of Micronesia. The patterns of infection in the two communities are seen to replicate in detail patterns of personal mobility by age and gender and patterns of kinship and friendship relations that order people's social interactions in the communities. These patterns of demographic and social relationship form the context of infectious contact, enabling us to differentiate between more- and less-probable means by which Hansen's disease is spread. We compare coughing and sneezing with inoculation through the frayed fibers of pandanus leaf floor mats and sleeping mats as alternative ways of spreading leprosy infection. We find that frayed mats, because they are ubiquitous in the contexts in which people interact, are more likely to spread infection than coughing and sneezing. Finally, we find that demographic patterns of the communities are not identical with genealogical relationships such that people with close genealogical relationships often do not interact on a regular basis. Thus, genealogical distance and social distance are independent of each other in this community. This makes genetic assessment of inheritance of resistance and susceptibility to Mycobacterium leprae an enterprise unencumbered by a necessarily linked demographic variable.

Diagnostic applications of H-Y serology: H-Y negative phenotype in cells from 45,X/46,XY fetus with testes.

Sexual dysmorphism should be considered likely in cases in which H-Y- phenotype and XY complement are found together. In the case described here, a pregnancy was terminated at nineteen weeks of gestation after 45,X and 46,XY cell lines were detected among cultured amniocytes. The fetus was a male with hypospadias and intraabdominal testes containing irregular tubules and hyperplastic interstitium. Cultured skin fibroblasts, containing 45,X and 46,XY lines in ratio of 18:2, were typed H-Y antigen negative. This underscores the danger of predicting gonadal type on the basis of somatic H-Y phenotype.

Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred.

The family on which this report is based is of interest because it contains individuals with the branchio-oto-renal (BOR) syndrome who have renal hypoplasia or malformations of the kidney or collecting system including duplication; only branchial and ear anomalies; and apparent nonpenetrance of the syndrome. This report provides evidence to support the hypothesis that in some families variable expressivity includes duplication of the urinary collecting system in individuals with other manifestations of the BOR syndrome as well as individuals with branchial and ear anomalies who have apparently normal kidneys.

Minute chromosomes replacing the Y chromosome carry Y-specific sequences by restriction fragment analysis and in situ hybridization.

Two unrelated males, a 43-year-old man with azoospermia and a 4-year-old boy with stature at the 10th centile, had similar karyotypes: 46,X,min. The minutes, present in all cells analyzed, stained weakly with G-, C-, and Q-banding methods. To elucidate their origin we used molecular techniques: In HaeIII digests of total genomic DNA from both individuals, no Y-specific reiterated sequences were detected. However, restriction fragment analysis with probe pDP31 demonstrated that the patients' DNA contained the Y-specific fragment. In situ hybridization with the same probe showed that these sequences were present on the minute chromosomes and have not been translocated elsewhere.