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PubMed1993

Agenesis of the dorsal pancreas in a woman with diabetes mellitus and in both of her sons.

Complete agenesis of the dorsal pancreas has rarely been described. Complete agenesis of the dorsal pancreas in a female who developed insulin-dependent diabetes mellitus at the age of 39 years is reported. The diagnosis of agenesis of the dorsal pancreas was suspected by abdominal ultrasound and confirmed by abdominal computed tomography (CT), magnetic resonance imaging, and endoscopic retrograde pancreatography. Her exocrine pancreatic function was essentially normal. Both of the patient's sons also had agenesis of the body and tail of the pancreas verified by abdominal CT but had no evidence of diabetes mellitus. This familial occurrence of agenesis of the dorsal pancreas suggests that hereditary mechanisms may play a role in the pathogenesis of this anomaly.

Adult↗
PubMed1993

Ulcerative colitis and total alopecia in a mother and her son.

Extraintestinal autoimmune disorders are associated with ulcerative colitis in selected patients and lend support to the theory of immune-mediated injury in inflammatory bowel disease. Rarely, alopecia areata has been associated with ulcerative colitis, and familial aggregation and an HLA association have been reported for both disorders. The occurrence of both alopecia and ulcerative colitis in a mother and son are reported with a detailed investigation of antineutrophil cytoplasmic antibodies and HLA alleles in this family. Treatment with the immunosuppressive agent cyclosporine proved beneficial in the child leading to remission of the ulcerative colitis and nascent growth of scalp and body hair.

Adult↗
PubMed1995

Familial gastroschisis: a case of mother-and son occurrence.

Gastroschisis is a rare congenital abdominal wall anomaly with a pathogenesis and mode of transmission that are not completely understood. There are few published reports of familial gastroschisis and no reported case of vertical transmission. The authors report the first published case of a mother who had gastroschisis and gave birth to a son with gastroschisis, which supports a genetic etiology.

Abdominal Muscles↗
PubMed1991

Genetic dissection of a neurodevelopmental pathway: Son of sevenless functions downstream of the sevenless and EGF receptor tyrosine kinases.

We have isolated a dominant mutation in a gene called Son of sevenless (Sos) that is an allele-specific suppressor of the sevenless phenotype. This suppressor function is autonomously required in R7 and is sensitive to the dosage of the Sos and bride of sevenless genes. Loss-of-function alleles of Sos are recessive lethals, but in the eye Sos has a role in R cell development. Mutations in Sos also interact with the Ellipse allele of the Drosophila EGF receptor. We propose a model suggesting that the Sos product is downstream of sevenless and the EGF receptor, and that the dominant suppression results from the overexpression or increased activity of the gene product.

Alleles↗
PubMed1989

Mother-son incest: confronting a prejudice.

This paper examines the proposition that the incidence of child sexual abuse by female perpetrators is underestimated. This may be due to a culturally based unwillingness to believe that women commit such acts. Female sexual offenders have been little studied and poorly understood. Until recently mother-child incest was considered to be virtually nonexistant and there remains a huge discrepancy in the incidence of male and female offenders. The predisposing factors contributing to this situation are examined for both men and women and an illustrative case history of mother-son incest is used to highlight our prejudices. The tentative conclusions reached are that (1) we underestimate the incidence of sexual abuse of male and female children by women and that (2) the changing roles of men and women in Western societies may lead to an increase in such abuse.

Female↗
PubMed1995

Conserved gene sequences for species identification: PCR analysis of the 3' UTR of the SON gene distinguishes human and other mammalian DNAs.

In this paper we show that the polymerase chain reaction (PCR) can be used on regions of highly conserved genes, such as the 3' untranslated region (3' UTR) of the SON gene, to identify the mammalian origin of a sample. Using this test, we have been able to distinguish human, monkey, cat, dog, mouse and hamster DNAs. We have also determined the DNA sequence of these different PCR products, which can be used to reinforce species identification. The advantages of this test are that: (i) no prior information is required on the possible species origin of a sample, (ii) the reaction produces a single PCR product which varies in size according to the species of origin, making the test simple to interpret, and (iii) the target region of DNA amplified in these experiments is small and can easily be sequenced and sized using automated techniques. This small size has enabled us to successfully amplify this product from DNA extracted from compromised material (human bone samples) and so demonstrate that the test is valuable for the characterisation of remains in which DNA is degraded.

Animals↗
PubMed2004

Adherence to an annual PSA screening program over 3 years for brothers and sons of men with prostate cancer.

OBJECTIVE: To assess the adherence to an annual PSA screening program conducted over 3 years in first-degree relatives of a sample of men with prostate cancer, and to identify characteristics of men who failed to undergo the full screening process. PATIENTS AND METHODS: Out of 747 candidates that were eligible for the screening program (asymptomatic brothers and sons aged between 40 and 70 years of men diagnosed with prostate cancer) 640 were contacted. The screening program entailed annual serum PSA testing over a 3-year period, during which every candidates attendance was recorded. At the outset, each candidate was requested to complete a questionnaire regarding their socio-professional characteristics, their level of anxiety and their attitude towards genetic susceptibility. RESULTS: 442 (69%) candidates agreed to enter the study and 420 filled out the questionnaire. During the 3-year period, 50 candidates (12%) who had accepted the first year screening refused to undergo subsequent PSA tests. These men were younger ( p=0.015), more anxious (p=0.037 ) and to have more than one affected first-degree relative ( p=0.028 ). CONCLUSIONS: The crucial and challenging step in the adherence to a screening program was the initial recruitment. Once recruited, adherence rate after 3 years was very high (88%). Identifying factors that help predict men who might leave the screening process may provide us means of improving their compliance in the future.

Adult↗
PubMed2005

Simultaneous type 1 diabetes onset in mother and son coincident with an enteroviral infection.

Enterovirus (EV) infections have been implicated in the development of type 1 diabetes. (T1D). They may cause beta-cell destruction either by cytolytic infection of the cells or indirectly by triggering the autoimmune response. Virus was isolated from a woman at diagnosis of T1D (Tuvemo 1) and in addition, virus was isolated from her son at diagnosis of T1D at the same day (Tuvemo 2). None of the isolates could initially be serotyped by conventional methods. The Tuvemo 1 virus was genotyped and after sub-cultivation it was also serotyped as Coxsackievirus B5. The mother revealed antibodies against GAD65. The boy and the father both revealed a significant increase in neutralization antibody titre against two strains of CBV-4, clearly indicating a recent or ongoing EV infection. In addition, the brother showed such a titre rise against another CBV-4 strain (E2) and against a CBV-5 strain (4429). These results show that the whole family had a proven EV infection at the time of T1D diagnosis of the mother and the 10-years-old boy, indicating that the infection might cause or accelerate the T1D.

Animals↗
PubMedDate not supplied

Arginine vasopressin and adrenocorticotropin secretion in response to psychosocial stress is attenuated by ethanol in sons of alcohol-dependent fathers.

Familial risk and environmental stress promote the development of alcohol dependence. We investigated whether a positive family history of alcoholism affects the neuroendocrine response to a standardized laboratory stress test in healthy subjects without alcohol use disorders. Twenty-four high-risk subjects with a paternal history of alcoholism (PHA) and 16 family history negative (FHN) controls were evaluated. Psychosocial stress was induced by having subjects deliver a 5-min speech and mental arithmetics in front of an audience on separate days, after drinking either placebo or ethanol (0.6 g/kg) in a randomized sequence. Adrenocorticotropin (ACTH) was measured in 10 plasma samples covering up to 75 min after the stress test. Plasma arginine vasopressin (AVP) was determined before the stressor, at the time of maximum ACTH secretion, and at 75 min after stress onset. The stress test induced a phasic increase in ACTH secretion. At the time of maximum ACTH, AVP was significantly increased in relation to baseline. Compared to placebo, alcohol administration significantly attenuated maximum ACTH concentration in PHA but not FHN subjects, and decreased AVP measured in the same samples in PHA but not FHN subjects. We conclude that activation of the hypothalamic-pituitary-adrenal system by psychosocial stress is accompanied by an increase in peripheral plasma AVP levels. Secretion of both ACTH and AVP suggest that alcohol attenuates the stress response selectively in PHA but not FHN subjects. This might imply some short-term positive alcohol effect in sons of alcoholics, but also constitute a mechanism by which their risk to develop alcohol use disorders is increased.

Adolescent↗
PubMed2005

Big and tall parents have more sons: further generalizations of the Trivers-Willard hypothesis.

This paper proposes the generalized Trivers-Willard hypothesis (gTWH), which suggests that parents who possess any heritable trait which increases male reproductive success at a greater rate than female reproductive success in a given environment will have a higher-than-expected offspring sex ratio, and parents who possess any heritable trait which increases female reproductive success at a greater rate than male reproductive success in a given environment will have a lower-than-expected offspring sex ratio. Since body size (height and weight) is a highly heritable trait which increases male (but not female) reproductive success, the paper hypothesizes that bigger and taller parents have more sons. The analysis of both surviving children and recent pregnancies among respondents of the National Child Development Survey and the British Cohort Survey largely supports the hypothesis.

Biological Evolution↗
PubMed2005

Risk factors associated with typhoid fever in Son La province, northern Vietnam.

Between July and December 2002, we undertook a hospital-based case-control study to identify risk factors associated with typhoid fever in Son La province, northern Vietnam. Among 617 suspected cases, 90 cases of typhoid fever were confirmed by blood or stool culture. One hundred and eighty controls (neighbours of typhoid cases matched for gender and age) were chosen. Participants were interviewed at home using a standardized questionnaire. Seventy-five per cent of cases were aged 10-44 years. No cases in patients aged less than 5 years were recorded in this study. In a conditional logistic regression analysis recent contact with a typhoid patient (OR = 3.3, 95% CI 1.7-6.2, P < 0.001), no education (OR = 2.0, 95% CI 1.0-3.7, P = 0.03) and drinking untreated water (OR = 3.9, 95% CI 2.0-7.5, P < 0.001) were independently associated with typhoid fever. Improving quality of drinking water must be a priority and health education strategies targeted at individuals with no schooling, and contacts of patients, would be expected to decrease the burden of typhoid fever.

Adolescent↗
PubMed2004

Development of prolactin levels in marmoset males: from adult son to first-time father.

Previous studies have found a clear relationship between prolactin (prl) and paternal care in various vertebrate taxa. In New World monkeys, it has been demonstrated in several species that fathers have high prolactin levels even during periods without infant rearing. In this study, we followed the reproductive careers of common marmoset males as they transitioned from being an adult son within their native family to fathering their own offspring for the first time. Specifically, we examined the first experience of elevated prolactin levels in marmoset males. Additionally, we investigated the effects of the total number of experienced births as well as of age on prolactin levels. Our results show that common marmoset males did not experience an increase in prolactin secretion after pairing or shortly before birth of their first infants. However, prolactin levels rose more than twofold after the birth of their first infants and had lowered again 2.5 months after this event. We found no correlation between prolactin levels and the number of previous births experienced or age. Our study demonstrates that further work about a possible enhancing effect of prolactin on paternal care, by means of experimentally reducing hormonal levels, should be conducted in common marmosets using first-time fathers before males experience the first paternal increase in prolactin levels.

Aging↗
PubMed2002

Mothers' attitudes toward nutrition are related to daughters' but not to sons' plasma cholesterol levels.

OBJECTIVE: To examine the relationship between parents' attitudes toward nutrition and plasma lipid levels of their children. DESIGN: Parents' nutrition attitudes were assessed with the Nutritional Attitude Scale, a self-report questionnaire measuring attitudes toward the adoption of a low-fat, low-cholesterol diet. Parents' and children's plasma lipid and lipoprotein levels were obtained. Data were collected during the baseline period and a 1-year follow-up of the Family Heart Study, a small community study of cholesterol-lowering via dietary change. PARTICIPANTS/SETTING: Participants were 33 girls and 34 boys (aged 6 to 13 years), and their parents. They were a subsample of European-American, middle-class, Portland, Ore, families participating in the Family Heart Study. STATISTICAL ANALYSES: Associations between parents' nutrition attitudes and plasma lipid levels of their children were evaluated using multiple linear regression analyses, controlling for the contribution of parents' lipid levels to those of their children. RESULTS: Mothers' nutrition attitudes interacted with their daughters' ages, accounting for 14% of the variance in plasma total cholesterol level and 11% in low-density lipoprotein cholesterol level in their daughters. Mothers' unhealthful nutrition attitudes were associated with elevated levels of plasma total and low-density lipoprotein cholesterol levels among older daughters, but not among younger daughters nor their sons. Fathers' nutrition attitudes were unrelated to their children's plasma lipid levels. Mothers' nutrition attitudes assessed at baseline remained a significant predictor of their daughters' lipid levels measured 1 year later. APPLICATIONS/CONCLUSIONS: The previously reported relationships between adults' unhealthful nutrition attitudes and their own elevated plasma lipid levels appear to extend to that of their children. The association between mothers' nutrition attitudes and their daughters' lipid levels highlights the importance of focusing on nutrition attitudes when designing intervention programs to reduce plasma lipids and lipoproteins via dietary changes in the family.

Adolescent↗
PubMed1993

Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome.

We describe a family in which the mother has progressive external ophthalmoplegia with the common 4977 base pair deletion, and her son has a syndrome similar to the Pearson marrow-pancreas syndrome with the identical deletion. This case extends the clinical phenotype of the Pearson syndrome and raises the possibility that developmentally regulated tissue-specific nuclear factors are responsible for the differential phenotypic expression of these two mitochondrial disorders.

Adult↗
PubMed1978

A father and son with cholestasis and peripheral pulmonic stenosis: a distinct form of intrahepatic cholestasis.

We report a father and son with the syndrome of cholestasis and peripheral pulmonic stenosis. These cases demonstrate the clinical and biochemical features noted in previous reports of this entity and allows us to differentiate clearly this syndrome, with its benign course, from other more progressive forms of intrahepatic cholestasis. The vertical transmission supports a genetic etiology for this disease. Although serum bile acid levels are elevated in these patients, the individual bile acids do not display a distinctive pattern and no abnormal bile acids are identified.

Adult↗