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PubMedDate not supplied

Sclerosing cholangitis and ulcerative colitis in a mother and her son.

We present two cases, a 32-year-old mother and her 10-year-old son, both of whom had ulcerative colitis and sclerosing cholangitis. The mother had radiologic as well as pathologic evidence of both diseases, while the child's disease was demonstrated pathologically. A review of the literature indicates the rarity of sclerosing cholangitis in childhood, with no reported instances of a parent-child affliction. The hypothesis that there is a genetic component to the development of sclerosing cholangitis may be supported by this family.

Adult↗
PubMed1997

The significance of Ras guanine nucleotide exchange factor, son of sevenless protein, in renal cell carcinoma cell lines.

PURPOSE: The aim of the present study is to clarify the significance of the Ras guanine-nucleotide exchange reaction in the proliferation of human renal cell carcinoma cell lines. MATERIALS AND METHODS: We examined the expression of human son of sevenless-1 (hSos-1) protein and the epidermal growth factor (EGF) receptor in human renal cell carcinoma cell lines by Western blot analysis. Additionally, a dominant negative H-ras mutant, N116Y, which is known to inhibit the Ras guanine-nucleotide exchange reaction, was transfected into these cell lines by lipofection. RESULTS: Human renal cell carcinoma cell lines expressed much higher amounts of the EGF receptor and hSos-1 protein than normal kidney tissue. Moreover, the N116Y ras mutant could strongly suppress cellular proliferation in these cell lines. CONCLUSIONS: Augmentation of the Ras guanine-nucleotide exchange reaction might be essential to the proliferation of human renal cell carcinoma cells.

Carcinoma, Renal Cell↗
PubMedDate not supplied

Perspectives of women whose sons become adolescent fathers.

PURPOSE: The purpose of this study was to describe adolescent fatherhood from the perspectives of these young men's mothers. DESIGN: A descriptive qualitative design was chosen because of the exploratory nature of this study. METHODS: Data collection and analysis were guided by naturalistic inquiry that permits theory to emerge from the data. The data were collected during a 1-hour focus group interview performed at a public high school located proximal to a large public housing project in a large Midwestern city. Five mothers of adolescent fathers were recruited from a variety of sources using a modified snowball approach. RESULTS: The seven major themes that emerged from the data were: barriers to fatherhood, value of fatherhood, transition to fatherhood, competencies of fatherhood, role-set relationships, social norms of fatherhood, and father-child contact. These women indicated that they felt their sons' youth influenced every aspect of the fatherhood experiences. CLINICAL IMPLICATIONS: Nurses who work with adolescent parents are ideally situated to encourage the support of adolescent fathers and their families. Future research should identify methods useful for supporting or discouraging paternal involvement of adolescent fathers, and effective intervention strategies for adolescent fathers and their families.

Adolescent↗
PubMed2000

The practices of mothering in caregiving an adult son with AIDS.

One invisible and silent phenomenon associated with the acquired immune deficiency syndrome (AIDS) epidemic is the return of mothers to care for their adult sons who are dying of the disease. This article presents an emergent fit of data from an interpretative study with 14 such mothers into Leonard's practices of mothering framework. Conceptualizing mothering as a practice rather than a technical skill provides a context for understanding nurture and care. The mothers' stories reveal moral content of mothering that is centrally important to cultural life, as well as implications for nursing practice.

Acquired Immunodeficiency Syndrome↗
PubMed1983

The whistling face syndrome, or craniocarpotarsal dysplasia. Report of two cases in a father and son and review of the literature.

Two cases of "whistling face syndrome" with the typical manifestations in the face, hands, and feet in a father and son are presented. From studying them over a 3-year period and from reviewing 46 reported cases, we conclude that (a) hand and foot deformities do not improve spontaneously with growth and better results are achieved by early surgery, (b) decreased intermaxillary distance contributed more than intercommissural distance to feeding and anesthetic difficulties in our patients, and (c) thickened and contracted joint capsules and myopathic changes are thought to form the basic pathology in this syndrome.

Abnormalities, Multiple↗
PubMed2003

Strong mothers bear more sons in rural Ethiopia.

In humans, there is evidence that the physiological cost to the mother of bearing sons is greater than of bearing daughters. Parents should manipulate the sex of offspring born in response to resource availability to maximize their reproductive success. Here, we demonstrate that, within a rural food-stressed community in southern Ethiopia, there is a strong association between the sex of the most recent birth and maternal nutritional status, measured either by body mass index or mid-upper arm muscle area (AMA) (measures of fat and muscle mass). The effect of muscle mass is very marked: those women in the upper 25th percentile of AMA were more than twice as likely to have had a recent male birth than those in the lowest 25th percentile.

Ethiopia↗
PubMed2005

Successful sons or superior daughters: sex-ratio variation in springbok.

Mothers would often benefit from producing more offspring of one sex than the other. Although some species show an astonishing ability to skew their sex ratio adaptively, the trends found in many studies on vertebrates have proved inconsistent. Furthermore, evidence for a mechanism by which such a bias is achieved is equivocal at best. Here, we examine sex-ratio variation over 30 years, both at an individual and a population level, in the highly polygynous, size-dimorphic springbok (Antidorcas marsupialis). Many previous studies of similar species have shown that mothers in superior condition preferentially produce sons, whereas those in poorer condition produce more daughters. We found the opposite to be true in springbok, perhaps because daughters provide mothers in superior condition with a more rapid and secure fitness return. This theory was supported by the findings that earlier-conceived offspring tended to be female and that an increased proportion of daughters were produced with increasing rainfall (which was likely to reduce nutritional stress). We also show that selective reabsorption of embryos is unlikely to be the main mechanism by which deviations from an equal sex ratio are achieved. Hence, either differential implantation occurs or females are able to influence the sex of the sperm fertilizing an egg.

Age Factors↗
PubMed2004

Maternal effects influence the sexual behavior of sons and daughters in the zebra finch.

Individual differences in sexual behavior have received much attention by evolutionary biologists, but relatively little is known about the proximate causes of this variation. We studied the quantitative genetics of male and female sexual behavior of captive zebra finches and found surprisingly strong maternal effects (differing between individual mothers) on the aggressiveness and song rate of sons and on the daughters' mating preferences for these male traits. We also found that daughters differed in their choosiness during mate-choice experiments depending on whether they originated from eggs produced early or late within the laying sequence of a clutch. Because this effect of laying order occurred independently of hatching order in cross-fostered broods, it must have been caused by consistent within-mother variation in maternal effects transmitted through the egg. Our findings raise the question whether these maternal effects might represent strategic programming of offspring behavior in response to the environment experienced by mothers or whether they are merely nonadaptive byproducts of developmental processes.

Aggression↗
PubMed2005

Disruption of ERBB2IP is not associated with dystrophic epidermolysis bullosa in both father and son carrying a balanced 5;13 translocation.

Mutations in the type VII collagen gene (COL7A1) cause autosomal recessive and autosomal dominant inherited dystrophic epidermolysis bullosa (DEB). We report a family with three individuals who present blistering, scarring, hypo- and hyperpigmentation, and nail dystrophy suggestive for DEB. Whereas father and son carry a 5;13 translocation, the daughter shows a normal karyotype. Segregation analysis revealed that all affected family members inherited the same COL7A1 allele. Mutation analysis disclosed a heterozygous missense mutation, c.6227G > A (p.G2076D), in COL7A1 in all affected individuals. Delineation of the translocation breakpoints showed that the ERBB2IP (erbb2 interacting protein or Erbin) gene is disrupted in 5q13.1 and GPC6 in 13q32. GPC6 encodes glypican 6 belonging to a family of cell surface heparan sulfate proteoglycans. The binding partners of Erbin, BP230 (BPAG1) and the integrin beta4 subunit, both involved in hemidesmosome (HD) function, and the presence of Erbin in HD suggested that it plays a role in establishment and maintenance of cell-basement membrane adhesions. However, loss of function of one ERBB2IP copy or expression of a putative novel ERBB2IP fusion protein did not apparently modulate the DEB phenotype in both translocation patients. Nonetheless, one cannot yet exclude that ERBB2IP is a candidate for human blistering disorders such as epidermolysis bullosa.

Adaptor Proteins, Signal Transducing↗
PubMed2005

Phototoxic dermatitis due to Chenopodium album in a mother and son.

Chenopodium album L. subs. album (Chenopodiaceae) is an annual herb with fibrous roots. The plant grows worldwide and frequently in moist areas. Sometimes, the young parts of this plant can be cooked and eaten as a vegetable. In this article, we report a mother and her adult son, in whom phototoxic reaction developed on the sun-exposed body areas after eating this plant of Chenopodiaceae family because of rare presentation. We thought that this reaction was probably due to furocoumarins constituent within the plant.

Adult↗
PubMed1977

Factitious skin lesions in a mother and two sons.

A family is described in which a woman, probably in a state of 'hysterical conversion', produced factitious lesions in her own skin (dermatitis artefacta) and in the skin of two sons (child abuse). Non-accidental injury to a child's skin may form part of a spectrum of skin artefacts in the parent.

Adult↗
PubMed1980

Non-spherocytic haemolytic anaemia in mother and son associated with hexokinase deficiency.

The case history, laboratory findings and properties of the enzyme in a patient with hexokinase deficiency are reported. The mother had a haemolytic disorder of similar severity. In these cases the expression of the disease in both mother and son suggests a dominant mode of inheritance. This family further illustrates the necessity of taking the reticulocyte level into account when interpreting red cell enzyme levels.

Adult↗
PubMed1982

Incontinentia pigmenti in Arizona Indians including transmission from mother to son inconsistent with the half chromatid mutation model.

Incontinentia pigmenti (IP) is an X-linked dominant disease, usually lethal to males. To explain occasional sporadic IP males, the half chromatid mutation model (Gartler & Francke 1975) has been invoked (Lenz 1975). We here report four cases of American Indians with IP. Two girls had sporadic IP. One affected boy's mother had IP. This is the first report of mother-to-son transmission of IP, indicating that a male with an inherited whole chromatid mutation for IP can escape lethality.

Arizona↗
PubMed1986

Weill-Marchesani syndrome in mother and son.

A mother and son, each showing the characteristic features of the Weill-Marchesani syndrome, are described. It is suggested that this family provides further evidence for genetic heterogeneity in this condition.

Adult↗
PubMed1987

A distinct congenital motor and sensory neuropathy (neuronal type) with dysmorphic features in a father and two sons. A variant of Charcot-Marie-Tooth disease.

A 37-year-old male had clinical and electrophysiological features of hereditary motor and sensory neuropathy (neuronal type) with onset in infancy, as well as histological picture of neurogenic myopathy. Two sons, aged 2 and 3 4/12 years, showed congenital contraction deformities of feet, delayed motor development, and electrophysiological features similar to those of the father. All three also presented laryngeal abnormalities, peculiar facies, short neck, narrow shoulders and protruding chest. The authors conclude that this aggregate of anomalies constitutes a "new" syndrome probably due to an autosomal dominant gene.

Abnormalities, Multiple↗
PubMed1987

Syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies in a mother and son.

We report a mother and son who have a microcephaly with a characteristic dysmorphic face. Prominent manifestations include facial asymmetry, prominent glabella, deafness, low-set, cup-shaped ears, thick, protruding lower lip, micrognathia, and mental retardation. We conclude that these patients have a previously undescribed type of genetic microcephaly. The mother has become normocephalic and we would not have been able to diagnose her condition without her childhood photographs. Such photographs are essential in the recognition of familial syndromes.

Abnormalities, Multiple↗
PubMed1997

Absence of RET proto-oncogene mutations in a father and son with pheochromocytoma and pancreatic islet cell tumor.

BACKGROUND: We describe a father and son with a combination of pheochromocytoma and pancreatic islet cell tumor. Although its familial occurrence is rare, this syndrome could be called overlapping-type multiple endocrine neoplasia (MEN), since it fulfills the criteria for both type 1 and type 2 MEN. Recently, germ line mutations of the RET proto-oncogene (RET) were found to be related to tumorigenesis and disease phenotypes in type 2 MEN. METHODS: Using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis, we looked for germ line mutations of RET in 8 members of this family, including the 2 patients. RESULTS: Analysis of RET exons 10, 11 and 16, which contain the hot-spot codons for MEN type 2, revealed no mutations in any individual examined. CONCLUSION: These findings suggest that these 3 exons in RET are not related to tumorigenesis in overlapping-type MEN.

Adenoma, Islet Cell↗