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PubMed2002

[Familial Darier disease and mental retardation in mother and her two sons].

Darier disease (DD) is an uncommon genetic skin disorder, which begins in adolescence or early adult life. This disease is observed more often among men and where the disease course is more severe. Many dermatologists observe in patients with DD neuropsychiatric disorders: psychosis, depression and rare mental retardation. We present familial DD in a mother and her two sons. Men demonstrated a typical onset and course of the disease. The onset of the disease in the 52nd year of age and the skin lesions (more characteristic for the Lyell disease) which occurred suddenly in women, were atypical. Besides skin lesions, mental retardation with a various degree of intensity was observed in all three patients.

Adult↗
PubMed2003

Does smoking during pregnancy affect sons' sperm counts?

BACKGROUND: There has been an apparent decline in sperm density during the last 5 decades in Denmark, a country in which women have among the highest rates of smoking in Europe. We examined semen quality and sex hormones in men in relation to their mothers' tobacco smoking during pregnancy. METHODS: Male participants were selected from the population-based Danish Twin Registry and the Danish Civil Registration System as part of a study on hereditary and environmental determinants of semen quality. From November 1999 to May 2000 we collected one fresh semen and blood sample from each of 316 men. Data on prenatal tobacco exposure were obtained for 265 of these men from a questionnaire filled in by their mothers. RESULTS: Adjusting for age, current smoking status and other factors, sperm density was 48% lower(95% confidence interval = -69% to -11) among sons of mothers who smoked more than 10 cigarettes per day during pregnancy. Total sperm counts and levels of inhibin-B were also reduced among this group, whereas follicular stimulating hormone levels were somewhat higher (16% increase; 95% confidence interval = -13% to 54%). These effects were not seen in the lower smoking category (1-10 cigarettes per day). CONCLUSIONS: High levels of smoking (> 10 cigarettes per day) during pregnancy may be a partial explanation for the apparent secular decline and the geographic differences in sperm counts.

Adult↗
PubMed1992

Shared-induced paranoid disorder folie à deux between mother and son.

A case of shared-induced paranoid (psychotic) disorder (DSM III-R, 1987) between mother and son is presented. This disorder may be a more frequently occurring disorder than is generally recognised. It is suggested that more detailed family and social investigations be undertaken to unearth psychopathology in the social environment of the patient. In cases involving relatives, this may be another dimension to the genetic influence on mental illness. This is the first case reported in the West Indian medical literature.

Adolescent↗
PubMed1992

Fathers and sons. Practices not necessarily made in heaven.

Partnerships result in many pluses to a dental practice. Interpersonal relationships result in many minuses to the partners' rapport. This is magnified manyfold when the relationship is father and son. This article attempts to resolve some of the problems.

Dentists↗
PubMed2004

[Farmer's lung cases of a farmer and his son with high BAL fluid beta-D glucan levels].

A farmer and his son, who treated straw in a cowshed, were admitted to our hospital because of severe dyspnea during summer time. Their chest X-ray films revealed bilateral reticulonodular shadows in the middle to lower lung fields. Bronchoalveolar lavage (BAL) fluid analyses showed a high proportion of lymphocytes and an increased CD4/8 ratio. They were diagnosed with farmer's lung and treated with pulse therapy with methylprednisolone and tapering of steroid. Hypoxemia and interstitial shadow improved, though the farmer relapsed one day after getting home. Immune precipitation showed positive reactions against Aspergillus fumigatus, Aspergillus terreus and Nocardiopsis alba. Their beta D-glucan levels in BAL fluid were higher than those of healthy normal volunteers, whereas their beta D-glucan levels in serum were below the detection levels. Ventilation of the cowshed and wearing a mask should prevent recurrence of the disease.

Adult↗
PubMed2005

Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.

Williams-Beuren syndrome (WBS) is a neurodevelopmental microdeletion disorder that usually occurs sporadically due to its location within a highly repetitive genomic region that is unstable and prone to unequal cross-over during meiosis. The consequential loss of chromosomal material includes approximately 1.5 Mb of DNA at 7q11.23. Whilst cases of dominant inheritance have been described in the literature, there have been few reports of molecular confirmation and none have carried out detailed genotyping. We describe a Bulgarian father and son with WBS detected by fluorescent in situ hybridisation (with an elastin gene probe) and loss of heterozygosity mapping using microsatellite markers located in the critical region. These individuals appear to have a common WBS heterozygous deletion, confirming the expected dominant transmission and adding to the few familial cases reported. The deletion includes the gene FKBP6 which has recently been shown to play a role in homologous chromosome pairing in meiosis and male fertility in mouse models. Homozygous Fkbp6 -/- male mice are infertile and our data suggests that haploinsufficiency for FKBP6 does not appear to preclude male fertility in WBS, although male infertility involving this gene has the potential to follow the mouse model as a human autosomal recessive condition.

Adult↗
PubMedDate not supplied

Simultaneous onset of herpes zoster in a father and son.

The Varicella Zoster virus persists in sensory nerve ganglion cells after chicken pox and gets reactivated to cause herpes zoster after variable periods of time as a result of waning of specific cellular immunity. Susceptible contacts of herpes zoster can develop chicken pox and very rarely herpes zoster. We report an interesting case of a father and his son who developed herpes zoster simultaneously without any obvious common predisposition and discuss the possible underlying mechanism.

Acyclovir↗
PubMedDate not supplied

[The Weill-Marchesani syndrome in a mother and son--its evolution with time].

Two patients with brachymorphy, mother and son, were admitted into the Hospital of Constanţa, in 1965. The child underwent several surgeries on the ectopic, spheric crystalline lens. The patients were followed in time and their present states are reported. Considerations are made on the evolution of surgical techniques in the crystalline ectopia and the present opinions about this problem.

Abnormalities, Multiple↗
PubMed1991

[Simultaneous occurrence of adenocarcinoma of the prostate in a father and son].

We describe two cases of adenocarcinoma of the prostate, which deserve being commented because of the unusual features of their occurrence. These were two stage D2 adenocarcinomas discovered within one year in a father and his son. One of the tumors was identified following hemostatic disorders. Thus three aspects of carcinoma of the prostate are studied: their possible occurrence in younger patients, the paraneoplastic disorders of coagulation, and the familial forms.

Adenocarcinoma↗
PubMed1991

[A case report of anesthetic management of orthotopic liver transplantation from a living donor to his son].

In November 1989, transplantation of a liver graft from a living related donor was performed at Shimane Medical University Hospital. The donor was a 26-year-old man and the recipient his 1-year-old son. The child had been in end stage of liver cirrhosis. Before the surgery, he required intensive care because of massive bleeding from varices. Anesthesia of the recipient was rapidly induced with ketamine and the trachea was intubated with succinylcholine using cricoid pressure. Anesthesia was maintained with enflurane, fentanyl and pancuronium. Nitrous oxide was used only in the preanhepatic period. Total surgical time and anesthetic time were 945 min and 1065 min, respectively. Total estimated blood loss was 3650 ml and 2780 ml of fresh whole blood was transfused. Careful attention was paid to body temperature, serum potassium, ionized calcium and blood coagulation function, as well as to general cardiovascular and respiratory functions. During anhepatic period, the inferior caval vein was not clamped. Hemodynamic function was relatively stable throughout the operation. At the time of reperfusion of the transplanted graft, there was little change in serum potassium levels or other parameters. Postoperative mechanical ventilation was required for 8 days.

Adult↗
PubMed1989

[Bullous congenital ichthyosiform erythroderma in a mother and son].

The occurrence of two cases of bullous congenital ichthyosiform erythroderma (BCIE) in a mother and son is reported. Clinical diagnosis was confirmed by histological and ultrastructural findings, which demonstrated marked changes in the cyto-skeleton of the keratinocytes of the Malpighian layer and areas of cytolysis and hypoplasia of the tonofilament-hemidesmosome complexes in the cells of the granulosa layer. These results and the possible aetiopathogenic mechanisms are discussed in the light of the most recent data in the literature. Treatment with oral etretinate proved to be helpful, but not long lasting.

Adult↗
PubMed1988

[An acute recurrence of focal-segmental glomerulosclerosis in a kidney transplanted from mother to son with a rapid decline in kidney function].

A case is presented of a 19-year-old man suffering from focal-segmental glomerulosclerosis with terminal chronic renal failure to whom a kidney taken from his mother was transplanted. There was high blood-group and tissue compatibility between mother and son. The initial result was good, the transplanted kidney functioned well-diuresis of 3300 ml with high proteinuria. Gradually the diuresis fell to 100-200 ml. From the 29th day following the transplantation pulse urbason therapy was applied for 3 days but without effect. This led to the resumption of hemodialysis and removal of the transplanted kidney. The microscopic examination of the kidney revealed massive focal-segmental glomerulosclerosis which had led to terminal chronic renal failure. The rapid severe relapse of the disease in the transplanted kidney is explained with the malignancy of the disease and the very high compatibility between donor and recipient. It is recommended that renal transplantation in patients with focal-segmental glomerulosclerosis should not be performed with a kidney taken from a parent.

Acute Disease↗
PubMed1986

Fathers and sons: some effects of prolonged custody litigation.

In all jurisdictions, for a variety of reasons, child custody and visitation issues may be reopened at any time. The children at issue, already likely to have been traumatized by problems in the parental marriage and subsequent separation and divorce, are affected further by still more litigation. The cases of three preadolescent boys who are the subjects of such prolonged litigation are presented. In each, the boys resided with their mothers as the primary custodial parents, the fathers having generally liberal rights of visitation. Regardless of which parent raised further court-related issues after the original agreements, the father-son relationship was most severely affected by continuing legal actions and related parental actions. Each child became increasingly fearful of the next anticipated visit by the father, who was cast into the role of villain by the child. Efforts to improve these damaged relationships through joint parent-child therapeutic attempts were largely of little avail. In spite of what may have been good experience with the person of the judge who dealt with earlier litigation, the children became fearful of what the next might be like or might do, viewing the judge as the person in power to whom parents and attorneys alike deferred. It is suggested that, wherever possible, prolonged litigation be avoided in the best interests of the child and of preserving necessary child-parent relationships.

Child↗
PubMed1985

[Acute recurrence of focal-segmental glomerulosclerosis in the kidney transplanted from mother to son with rapidly progressing failure of renal function].

After a brief survey, stressing upon the high susceptibility of the focal-segmental glomerulosclerosis to recurrences in transplated kidney, the authors announced one of their own observations on a youth, aged 19, that was transplated a kidney from a living donor--his mother. The basic disease in the acceptor led to chroniodialysis after 20 months of the first clinical signs. In spite of the high diuresis, that was observed after the transplantation of the maternal kidney, proteinuria persisted as early as the first days after the transplantation, creatinine did not reach the normal values and after I month chroniodialysis was again included, followed by detransplantation. The cause of that malignant course of the disease and in the transplanted kidney, the authors admitted to be the high tissue compatibility between the donor-mother and acceptor--son, one antigen in locus A and two antigens in loci B and DR. They think that with a malignant course of the focal segmental glomurolosclerosis, living donor for kidney transplantation should not be used and on no account--in case of high tissue compatibility.

Acute Disease↗
PubMed1984

Bilateral congenital oval window microfistulae in a mother and son.

This article details case histories of a son and his mother who were studied over a seven-year period before making the diagnosis of bilateral oval window microfistulae in both of them. The boy demonstrated a slowly progressive bilateral and symmetrical sensorineural hearing loss closely resembling that of his mother. The case reports emphasize their respective histories, diagnostic evaluation, surgical observations, and treatment.

Adult↗