An investigation of students' willingness to report threats of violence in campus communities.

Objective: This study extends prior work on students' willingness to report threats of violence to college-aged populations. Method: Undergraduate students (N = 967) were sampled from a large university in the Southern U.S. Results: Almost seventy percent (69%) of students endorsed being “at least somewhat willing” to report a threatening peer. Trust in the college support system (e.g., trust in police, administrators) was positively related to students' willingness to report threats of violence. Similarly, feeling connected to the campus environment was positively related to willingness to report threats directly and indirectly through trust in the college support system. In contrast, delinquency was negatively related to willingness to report and self-efficacy toward service (i.e., the belief that one can have a positive impact) only was positively related to reporting in the presence of trust in the college support system and campus connectedness. Lastly, fear of negative evaluation was unrelated to students' willingness to report. Conclusion: To facilitate threat reporting, it is important for students to feel connected to the campus community and trust in members of the college support system as self-efficacy toward service is not sufficient by itself. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Male victims of domestic violence and their history of perpetrating violence

OBJECTIVE: To determine whether male victims of domestic violence have similar rates of violence perpetration compared with men evaluated in the ED with other causes of injury. METHODS: Case-control retrospective ED record review with linkage to police department records. Cases were identified by ICD code N-code 995.81 (adult maltreatment syndrome) over a 4-year period (January 1, 1991, to December 31, 1994) at one urban trauma center. Medical records were reviewed to confirm that the assailant was an intimate female partner. Controls were identified by E-codes 880-888 (unintentional falls) and matched by age, race, and date of visit. All names were linked to police department record information regarding arrests for domestic violence perpetration, nonaggravated assaults, aggravated assaults, firearms violations, and driving under the influence of alcohol (DUI). This information was reported without patient identifiers. Comparisons between cases and controls were made with chi2 analysis. RESULTS: Forty-five cases and 45 controls were identified. The cases were injured by unarmed fights, E960 (31%); cuttings, E966 (33%); blunt objects, E968.2 (31%); and bites, E968.8 (5%). Median age (interquartile range) for cases was 32 (25.75, 38.25) years and for controls was 31 (25, 36.5) years. Median follow-up (interquartile range) of police records after ED visit was 45 (37, 50) months for cases and 45 (36.75, 51) months for controls. Fifty-one percent of the cases had arrests for domestic violence perpetration vs 22.2% of the controls (p=0.009). Forty-four percent of the cases had been arrested for nonaggravated assaults vs 20.0% of the controls (p=0.024). There was no statistical difference between the cases and controls in arrests for aggravated assaults (13.3% vs 4.4%), firearm violations (22.2% vs 17.8%), or DUIs (35.6% vs 20%). CONCLUSION: Men who present to the ED with injuries inflicted by their female partners have a high rate of domestic violence perpetration. This information calls into question whether many male "victims" of domestic violence are injured in self-defense by the female "victim." Also, injury by a female partner may be a useful indicator to identify batterers, so they can be referred by appropriate resources.     

Presidential address. What does the Millennium have in store for the American Society of Parasitologists?

BACKGROUND: Previous studies have reported low conviction rates for drunk drivers injured in motor vehicle crashes and transported to the hospital. The purpose of this study was to evaluate this rate during a recent period and to investigate the variables that predict alcohol-related convictions for injured drunk drivers admitted to our hospital. METHODS: A retrospective review of medical records from January 1991 through May 1997 identified 71 patients who were legally intoxicated drivers injured in motor vehicle crashes. Court records, police reports, and driving records were also obtained. RESULTS: Overall, 51% of the drunk drivers were convicted of alcohol-related offenses and 32% escaped without any conviction. Blood alcohol level and a police officer's estimation of whether the driver had been drinking were significant predictors of an alcohol-related conviction. Age, Injury Severity Score, a police officer's estimation of injury, and the number of people or cars involved in the crash were not significantly associated with legal outcome. CONCLUSION: Although this study shows an important increase in alcohol-related conviction rates, responsibility for further progress will depend on the medical community, law enforcement agencies, and the judicial system working together.     

Application of the duty to protect to HIV-positive patients.

The spread of acquired immune deficiency syndrome (AIDS) has led to new questions regarding the limits of confidentiality in the psychotherapeutic relationship. We describe the duty-to-protect doctrine that has arisen out of Tarasoff and subsequent court decisions and apply it to situations in which human immunodeficiency virus (HIV)-positive patients may pose a health threat to others. No courts have as yet applied the duty to protect to cases of HIV infection. We conclude that although parallels exist between Tarasoff and HIV-infected patients, following good clinical practices can significantly reduce instances in which a duty to warn might arise. We recommend statutory solutions that would permit but not require warning potential victims of the HIV infection. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Progressive central and peripheral demyelinating disease of adult onset in a Norwegian family

OBJECTIVE: To describe the clinical features of a Norwegian family with a combined central and peripheral demyelinating disease. DESIGN: Multiple case report. SUBJECTS AND MATERIALS: Three generations of a Norwegian family. Medical records were available for all 9 members of the second generation and 5 affected members in the third generation. RESULTS: At least 5 members had clinical features, neuroimaging findings, and electrophysiologic signs indicating a chronic progressive disorder affecting both the central and peripheral nervous systems. The clinical symptoms developed between the ages of 30 and 70 years in affected family members, who gradually developed sensory loss, muscle deterioration, and distal weakness in all extremities, unsteady gait, and dysarthria. Five of 9 persons in the second generation had strokes and experienced mental deterioration. The initial stroke episodes were recognized between the ages of 54 and 68 years, and death occurred between the ages of 62 and 75 years. In 7 subjects, cerebrospinal fluid protein levels were increased, and in 5 agar gel electrophoresis indicated blood-brain barrier dysfunction. Seven family members had neuroimaging signs of a widespread white matter disorder. In 4 subjects, neurophysiological investigations indicated a polyneuropathy, and in 3 subjects, results from a sural nerve biopsy showed a demyelinating neuropathy. There was no evidence of co-inheritance with genetic markers of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (19p), PMP22 (17q), APP (21q), CMTX1 (Xq), or PLP (Xq). CONCLUSIONS: Progressive central and peripheral demyelinating disease seems to be a distinct type of hereditary adult-onset demyelinating disorder affecting both the peripheral and central nervous systems. Its exact nature remains unknown.     

Self-protective biases in group categorization: Threat cues shape the psychological boundary between “us” and “them”.

Across 6 studies, factors signaling potential vulnerability to harm produced a bias toward outgroup categorization—a tendency to categorize unfamiliar others as members of an outgroup rather than as members of one's ingroup. Studies 1 through 4 demonstrated that White participants were more likely to categorize targets as Black (as opposed to White) when those targets displayed cues heuristically associated with threat (masculinity, movement toward the perceiver, and facial expressions of anger). In Study 5, White participants who felt chronically vulnerable to interpersonal threats responded to a fear manipulation by categorizing threatening (angry) faces as Black rather than White. Study 6 extended these findings to a minimal group paradigm, in which participants who felt chronically vulnerable to interpersonal threats categorized threatening (masculine) targets as outgroup members. Together, findings indicate that ecologically relevant threat cues within both the target and the perceiver interact to bias the way people initially parse the social world into ingroup vs. outgroup. Findings support a threat-based framework for intergroup psychology. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Common-sense models of illness: The example of hypertension.

Hypothesized that actions taken to reduce health risks are guided by the actor's subjective or common-sense constructions of the health threat and that illness threats are represented by their labels and symptoms (their identity), their causes, consequences, and duration. These attributes are represented at 2 levels: as concrete, immediately perceptible events and as abstract ideas. Both levels guide coping behavior. 230 patients were interviewed about hypertension, presumably an asymptomatic condition. When asked if they could monitor blood pressure changes, 46% of 50 nonhypertensive, clinic control cases said yes, as did 71% of 65 patients new to treatment, 92% of 50 patients in continuing treatment, and 94% of 65 re-entry patients who had previously quit and returned to treatment. Patients in the continuing treatment group, who believed the treatment had beneficial effects on their symptoms, reported complying with medication and were more likely to have their blood pressure controlled. Patients new to treatment were likely to drop out of treatment if (1) they had reported symptoms to the practitioner at the 1st treatment session, or (2) they construed the disease and treatment to be acute. Data suggest that patients develop implicit models or beliefs about disease threats, which guide their treatment behavior, and that the initially most common model of high blood pressure is based on prior acute, symptomatic conditions. (45 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Extreme variation in X-linked agammaglobulinemia phenotype in a three-generation family

BACKGROUND: X-linked agammaglobulinemia is typically a severe life-threatening disease characterized by the failure of B-cell differentiation and antibody production, which manifests in infancy and early childhood. Recently, we reported a novel mutation (Cys145-->STOP) in Bruton's tyrosine kinase in a 51-year-old man who was referred for evaluation because of chronic nasal congestion, recurrent sinusitis, sporadic pneumonia, and a family history suggestive of an X-linked immunodeficiency disease. He had not been treated with gammaglobulin. OBJECTIVE: This study was performed to investigate the clinical and immunologic phenotypes of this patient's other affected male family members. METHODS: A detailed family history and comprehensive review of medical records was carried out. Genetic mutation analysis of the gene encoding Bruton's tyrosine kinase was carried out in the proband's brother and nephew. RESULTS: Clinically affected male family members exhibit marked phenotypic variation with manifestations ranging from extremely mild to severe recurrent infections. Immunologic evaluation revealed extreme variation in immunoglobulin levels, B-cell numbers, and functional antibody titers. Genetic analysis documented a novel mutation in the gene encoding Bruton's tyrosine kinase in the proband, his brother, and his nephew. CONCLUSIONS: Despite their sharing the same genetic abnormality, extreme variation was noted in the immunologic findings and phenotypic expression of affected family members. This family study is extraordinary in that clinically affected male members who did not receive aggressive medical treatment died of the disease in childhood or survived into late adulthood.     

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy

BACKGROUND: Mutations in the gene for cardiac myosin-binding protein C account for approximately 15 percent of cases of familial hypertrophic cardiomyopathy. The spectrum of disease-causing mutations and the associated clinical features of these gene defects are unknown. METHODS: DNA sequences encoding cardiac myosin-binding protein C were determined in unrelated patients with familial hypertrophic cardiomyopathy. Mutations were found in 16 probands, who had 574 family members at risk of inheriting these defects. The genotypes of these family members were determined, and the clinical status of 212 family members with mutations in the gene for cardiac myosin-binding protein C was assessed. RESULTS: Twelve novel mutations were identified in probands from 16 families. Four were missense mutations; eight defects (insertions, deletions, and splice mutations) were predicted to truncate cardiac myosin-binding protein C. The clinical expression of either missense or truncation mutations was similar to that observed for other genetic causes of hypertrophic cardiomyopathy, but the age at onset of the disease differed markedly. Only 58 percent of adults under the age of 50 years who had a mutation in the cardiac myosin-binding protein C gene (68 of 117 patients) had cardiac hypertrophy; disease penetrance remained incomplete through the age of 60 years. Survival was generally better than that observed among patients with hypertrophic cardiomyopathy caused by other mutations in the genes for sarcomere proteins. Most deaths due to cardiac causes in these families occurred suddenly. CONCLUSIONS: The clinical expression of mutations in the gene for cardiac myosin-binding protein C is often delayed until middle age or old age. Delayed expression of cardiac hypertrophy and a favorable clinical course may hinder recognition of the heritable nature of mutations in the cardiac myosin-binding protein C gene. Clinical screening in adult life may be warranted for members of families characterized by hypertrophic cardiomyopathy.     

Low penetrance in the long-QT syndrome: clinical impact

BACKGROUND: It is still currently held that most patients affected by the long-QT syndrome (LQTS) show QT interval prolongation or clinical symptoms. This is reflected by the assumption in linkage studies of a penetrance of 90%. We had previously suggested that a larger-than-anticipated number of LQTS patients might be affected without showing clinical signs. We have now exploited the availability of molecular diagnosis to test this hypothesis. METHODS AND RESULTS: We identified 9 families with "sporadic" cases of LQTS, ie, families in which, besides the proband, none of the family members had clinical signs of the disease. Mutation screening by conventional single-strand conformational polymorphism and sequencing was performed on DNA of probands and family members to identify mutation carriers. Of 46 family members considered on clinical grounds to be nonaffected, 15 (33%) were found instead to be gene carriers. Penetrance was found to be 25%. In these families, conventional clinical diagnostic criteria had a sensitivity of only 38% in correctly identifying carriers of the genetic defect. CONCLUSIONS: This study demonstrates that in some families, LQTS may appear with a very low penetrance, a finding with multiple clinical implications. The family members considered to be normal and found to be silent gene carriers are unexpectedly at risk of generating affected offspring and also of developing torsade de pointes if exposed to either cardiac or noncardiac drugs that block potassium channels. It is no longer acceptable to exclude LQTS among family members of definitely affected patients on purely clinical grounds. Conversely, it now appears appropriate to perform molecular screening in all family members of genotyped patients.     

Psychological Needs and Threat to Safety: Implications for Staff and Patients in a Psychiatric Hospital for Youth.

For psychiatric care workers and administrators, physical threat from behaviorally dysregulated patients is an important issue tied to many others, including workers' job satisfaction, motivation, well-being, and attitude toward patients. Yet, the impact of threats to physical safety may be offset by factors in the clinical environment. The authors tested hypotheses derived from self-determination theory concerning the relations of workplace need satisfaction and perceived threat to motivation, attitudes, and well-being among clinical staff within an adolescent psychiatric inpatient hospital. Also tested were relations between need satisfaction and treatment motivation among adolescent patients. To improve the experience of psychiatric workers and their patients, clinical staff and their administrators must attend to the satisfaction of needs for autonomy, relatedness, and competence. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

The role of subunit composition on prepulse facilitation of the cardiac L-type calcium channel

The prevalence of neurocysticercosis has been well documented in rural communities in Latin America using the enzyme-linked inmmunoelectrotransfer blot (EITB) assay. We studied the prevalence of neurocysticercosis in an urban, upper-middle class population in Cuenca, Ecuador. Family members of 34 index cases with parenchymal neurocysticercosis on a computed tomography (CT) scan and family members of 14 patients who had normal CT scans after a trauma or migraine were enrolled in the study. Serum was obtained from 226 individuals, 173 (72%) from the case families and 67 (28%) from the control families. Twelve percent of the case family members and 4% of the control family members were seropositive by the EITB assay. This was a statistically significant difference (P < 0.05) when age and education were held constant by logistic regression. Seropositivity was not related to age. No neurologic symptom proved predictive of serostatus and the only demographic variable that correlated with seropositivity was increased crowding. Positive serology in index cases did correlate with CT findings as follows: 86% of patients with active lesions, 67% with transitional lesions, and only 41% of patients with inactive lesions were positive by the EITB assay. Eighteen percent of family members with a positive EITB test result had parenchymal lesions on a subsequent CT scan. This study demonstrates a high rate of seropositivity of cysticercosis among urban, middle to upper-middle class individuals in a region endemic for Taenia solium. Household contacts of patients with neurocysticercosis had a three-fold higher risk of positive serology for cysticercosis, in comparison with controls.     

Autopsy evidence of pulmonary thromboembolism

OBJECTIVE: To determine the prevalence of pulmonary thromboembolism (PE) and underlying risk factors at autopsy, compared with clinical diagnosis. DESIGN: Retrospective review of autopsy records, death certificates and medical histories. PATIENTS AND SETTING: All 132 patients who underwent autopsy at St Vincent's Hospital, Melbourne, in 1992. RESULTS: Sixteen cases (12% of autopsies) of PE were found at autopsy. In only two had PE been recorded on the death certificate; in one other, diagnosis had been made before death. Associated pulmonary infarction and/or haemorrhage was found in only six patients with PE. All 16 had at least one underlying risk factor: advanced age, cancer, heart disease, or recent pelvic or abdominal surgery. In four patients with missed PE, clinical records showed episodes consistent with PE. There were four false-positive diagnoses. CONCLUSIONS: Significant undiagnosed pulmonary embolism is not uncommon at autopsy. Many episodes are clinically silent, but the diagnosis should be suspected in at-risk patients with unexplained episodes of dyspnoea and tachycardia.     

Statutory remedies to the duty to protect: A reconsideration.

Offers a brief history of duty-to-protect statutes, which limit the liability of psychotherapists who treat life-endangering outpatients and protect therapists who make good-faith warnings when danger to identifiable victims is predictable. Fears are discussed that surround the possibility that courts will continue to expand the Tarasoff (1976) decision beyond its original parameters. Current statutory remedies to problems related to the Tarasoff decision are discussed, and the intent of duty-to-protect laws is examined. Alternative wording to these statutes is offered. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Rate constants for quenching singlet oxygen and activities for inhibiting lipid peroxidation of carotenoids and alpha-tocopherol in liposomes

BACKGROUND: Familial juvenile polyposis (JP) is an autosomal dominant condition in which affected individuals develop upper or lower gastrointestinal (GI) juvenile polyps, or both, and have a predisposition to cancer of the gastrointestinal tract. The risk of GI cancer has not been well defined because of the small number of these families and the lack of follow-up. The objective of this study was to determine the prevalence and age at diagnosis of GI polyposis and cancer in a large JP kindred. METHODS: Medical records were reviewed, patients were interviewed, and histories were taken. Pathology reports and slides were reviewed by our pathologists. A database was created for analysis of clinical and pathologic factors. RESULTS: This kindred contains 117 members, 29 of whom have had upper or lower GI polyps or cancer, or both. All those affected have had colonic juvenile polyps or cancer, except for two who died of advanced gastric cancer and never had colonic evaluation. Nine individuals have had both upper and lower GI polyps or cancer. Sixteen of 29 (55%) affected patients have developed gastrointestinal cancer. Eleven (38%) have had colon cancer, and six (21%) have had upper GI cancers. CONCLUSIONS: The risk of gastrointestinal malignancy in affected members of this JP kindred exceeds 50%. The high risk of GI cancer warrants frequent endoscopic screening of both affected and at-risk family members. Screening will soon be facilitated by presymptomatic genetic testing for the identification of gene carriers.     

Familial leukoencephalopathy in bipolar disorder

OBJECTIVE: Imaging studies of patients with bipolar disorder demonstrate changes in deep white matter and subcortical gray nuclei that are seen as focal hyperintensities on T2-weighted magnetic resonance imaging (MRI). The objective of this study was to examine MRIs in a family with a strong history of bipolar disorder to look for possible MRI abnormalities in members with and without affective illness. METHOD: The authors obtained MRIs of 21 members of a family with a strong history of bipolar disorder. Eight of the family members studied had bipolar illness, one had symptoms of bipolar disorder but did not meet full DSM-III-R criteria, two had unipolar disorder, and 10 did not have bipolar disorder. RESULTS: Fifteen of the 21 family members had MRI findings, including six of 10 family members who had no affective disorder and all of those with bipolar disorder. Lesions of both white matter and subcortical gray nuclei were found. CONCLUSIONS: Although the clinical significance of these MRI findings is unknown, the high prevalence of MRI findings in both affected and unaffected family members suggests that MRI findings may potentially serve as a biological marker for bipolar disorder. Recent genetic studies have established a link between familial leukoencephalopathy and chromosome 19. If leukoencephalopathy appears to be related to bipolar disorder, it may allow clearer characterization of the genetics of the disorder.     

Mental health clinicians' attitudes about reporting threats against the president

OBJECTIVE: A recent review by the United States Secret Service of cases involving threats against the President indicated that about 50 percent of subjects had received mental health care. However, only 12 percent of referrals for investigation came from mental health professionals. This study explored reasons for this discrepancy by examining mental health clinicians' attitudes about reporting threats against the President to the Secret Service. METHODS: A questionnaire developed using findings from a series of focus groups was mailed to a stratified sample of 1,200 psychiatrists, psychologists, and social workers in four states. The instrument included questions about their experience with threats against the President, factors that influence reporting of threats, and knowledge about the Secret Service and its functions. RESULTS: A total of 592 questionnaires were returned, for a response rate of 49.3 percent. Therapists know very little about the Secret Service and are unclear about how to appropriately respond to threats against the President by their clients. The majority of respondents (89.9 percent) indicated they would report a threat against the President only if they thought the threat was "real," contingent on situational and patient variables and elements of the threat itself. Most of the respondents (62.4 percent) indicated that regardless of what information they considered clinically relevant to the investigation. CONCLUSIONS: Given the importance of clinical information for assessing risk to the President, the Secret Service should consider increased educational efforts to inform the mental health community about the functions and mission of the Secret Service and to clarify professional obligations to report threats against the President.     

All that wheezes is not asthma. Paradoxical vocal cord movement presenting as severe acute asthma requiring ventilatory support

OBJECTIVE: To discuss the implications of recent legislative changes and court decisions in Canada that have placed the privacy of psychiatric records information at risk. New areas of exposure include client access to clinical information provided by family members, parental access to children's records, and court access to clinical records in civil, criminal, and family law matters. METHOD: A review of recent legislative changes and court decisions pertaining to access to psychiatric records. CONCLUSION: At present, psychiatric records can no longer be regarded as confidential. Recent changes in the concept of privilege of treatment records necessitates several changes in psychiatric practice regarding informed consent to treatment, content of clinical records, and responses to demands for information.     

Familial isolated primary hyperparathyroidism

Familial primary hyperparathyroidism (PHPT) is usually encountered in the context of multiple endocrine neoplasia (MEN) syndromes. Few families have been reported in the literature where PHPT was the only abnormality. However, in these families no long-term follow-up data were reported and no genetic linkage studies were performed. OBJECTIVE: We investigated a large family with a familial primary hyperparathyroidism for biochemical and genetic markers of multiple endocrine neoplasia syndromes. DESIGN: A family screening study. PATIENTS: Thirty-seven family members participated in this study including 7 patients who had been previously operated upon for PHPT. MEASUREMENTS: Serum calcium (albumin adjusted), was measured in all family members. Hypercalcaemic subjects and patients who had been operated upon for PHPT were assessed for biochemical markers of MEN syndromes (serum gastrin, prolactin, calcitonin, fasting plasma glucose and 24-hours urinary excretion of adrenaline, noradrenaline and vanillylmandelic acid (VMA)). Genetic linkage analysis was performed using DNA markers linked to chromosome 11q13, the presumed MEN type 1 (MEN-1) locus. RESULTS: Four new patients with PHPT and two with probable PHPT were discovered. No clinical or biochemical evidence of MEN syndromes could be detected. DNA marker pMS51(D11S97) was informative, maximum two-point lodscore of 2.12 at a recombination fraction of 0.05 confirming linkage to chromosome 11q13. CONCLUSIONS: Familial PHPT can exist as a separate clinical entity. Isolated familial PHPT is caused by mutation in a gene located in the MEN-1 region on chromosome 11q13, possibly the MEN-1 locus.     

Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus

BACKGROUND: The nephronophthisis-medullary cystic disease (NPH/MCD) complex represents a heterogeneous group of hereditary tubulointerstitial nephritis. The most common variant is juvenile recessive NPH, for which a gene locus (NPH1) has been mapped on chromosome 2q13. MCD is a less common dominant condition usually recognized later in life, which resembles NPH in many aspects, still presenting remarkable clinical differences. Nothing is known about the chromosome locus of MCD. METHODS: Five MCD families were studied. Diagnosis was made by inference from family history, type of inheritance, clinical signs and histology. Multipoint linkage analysis was performed by markers D2S293, D2S340 and D2S160 spanning the entire NPH1 locus. RESULTS: Diagnosis of MCD was made in 28 affected members (16 males; 12 females), belonging to five families. Histological diagnosis was available in 10 patients; clinical diagnosis in 11; seven deceased relatives had diagnosis of chronic nephritis. The age at diagnosis ranged from 8 to 65 years. Renal medullary cysts were found in a minority of patients. In family 1, the disease was associated with hyperuricaemia and gouty arthritis. Progression of renal disease presented intra- and extra-family variability with members of the same family showing mild elevation of creatinine or terminal renal failure. The NPH1 locus associated to recessive NPH was excluded from linkage to the dominant MCD. CONCLUSIONS: MCD might be more common than previously assumed. Variability in clinical presentation and absence of histopathological hallmarks contribute to make the diagnosis uncommon. The most remarkable clinical difference with NPH is the age of onset in some kindreds and a delayed progression towards renal failure. The exclusion of linkage to the NPH1 locus suggests the existence of an MCD responsible locus, still to be mapped.