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Characterization of fibroblasts with Son of Sevenless-1 mutation.

Although non-syndromic hereditary gingival fibromatosis (HGF) is genetically heterogeneous, etiologic mutations have been identified only in the Son of Sevenless-1 gene (SOS1). To test evidence of increased cell proliferation, we studied histological, morphological, and proliferation characteristics in monolayer and three-dimensional cultures of fibroblasts with the SOS1 g.126,142-126,143insC mutation. Histological assessment of HGF gingiva indicated increased numbers of fibroblasts (30%) and increased collagen (10%). Cell proliferation studies demonstrated increased growth rates and 5-bromo-2-deoxyuridine incorporation for HGF fibroblasts. Flow cytometry showed greater proportions of HGF fibroblasts in the G2/M phase. Attachment of HGF fibroblasts to different extracellular matrix surfaces demonstrated increased formation of protrusions with lamellipodia. HGF fibroblasts in three-dimensional culture showed greater cell proliferation, higher cell density, and alteration of surrounding collagen matrix. These findings revealed that increased fibroblast numbers and collagen matrix changes are associated with mutation of the SOS1 gene in vitro and in vivo.

Adult↗

Patterns of HIV prevalence among injecting drug users in the cross-border area of Lang Son Province, Vietnam, and Ning Ming County, Guangxi Province, China.

BACKGROUND: To assess patterns of injecting drug use and HIV prevalence among injecting drug users (IDUs) in an international border area along a major heroin trans-shipment route. METHODS: Cross-sectional surveys of IDUs in 5 sites in Lang Son Province, Vietnam (n = 348) and 3 sites in Ning Ming County, Guangxi Province, China (n = 308). Respondents were recruited through peer referral ("snowball") methods in both countries, and also from officially recorded lists of IDUs in Vietnam. A risk behavior questionnaire was administered and HIV counseling and testing conducted. RESULTS: Participants in both countries were largely male, in their 20s, and unmarried. A majority of subjects in both countries were members of ethnic minority groups. There were strong geographic gradients for length of drug injecting and for HIV seroprevalence. Both mean years injecting and HIV seroprevalence declined from the Vietnamese site farthest from the border to the Chinese site farthest from the border. 10.6% of participants in China and 24.5% of participants in Vietnam reported crossing the international border in the 6 months prior to interview. Crossing the border by IDUs was associated with (1) distance from the border, (2) being a member of an ethnic minority group, and (3) being HIV seropositive among Chinese participants. CONCLUSION: Reducing the international spread of HIV among IDUs will require programs at the global, regional, national, and "local cross border" levels. At the local cross border level, the programs should be coordinated on both sides of the border and on a sufficient scale that IDUs will be able to readily obtain clean injection equipment on the other side of the border as well as in their country of residence.

Adult↗

Between dad and son: initiating, delivering, and assimilating bad cancer news.

The opening moments of a phone call reveal how a father informs his son, for the 1st time, that his mom's tumor is malignant. An extended phone opening reveals how delaying talk about the mom's condition allows for important interactional work: Displaying resistance to announce the bad news directly, projecting and anticipating the valence of forthcoming news prior to its announcement, and delicately sharing ownership of a serious health condition at the outset of a family cancer journey. Enacting a biomedical demeanor, replete with technical language and withholdings of emotional and personal reactions, subsequent delivery and reception of the bad news is managed stoically-a normalized resource employed by consequential figures when managing and coping with dreaded news events. By closely examining how family members talk through cancer on the telephone, the scope of health communication research is extended beyond clinical settings into home environments, progress is made on the noticeable absence of interactional studies in psycho-oncology, and diverse implications arise for understanding how lay persons diagnose and manage illness dilemmas.

Adaptation, Psychological↗

Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor--a clinical research center study.

The pituitary-gonadal axis was evaluated in a mother after two of her sons with familial male-limited pseudoprecocious puberty were found to have a constitutively activating mutation of the LH receptor (LHR). Genotyping demonstrated that all showed a mutation in one of the two alleles, a substitution of Gly for Asp578 in the sixth transmembrane segment of the LHR. Ovarian function was normal in the 36-yr-old mother as assessed by LH dynamics and FSH and androgen levels throughout the menstrual cycle. Hormonal responses to acute GnRH agonist (nafarelin) challenge, chronic GnRH agonist administration, and dexamethasone were also normal. Studies of the boys upon presentation at 2.4 and 3.5 yr of age revealed that acute LH responses to nafarelin were in the hypogonadotropic range, and the FSH responses were prepubertal despite the presence of late pubertal testosterone blood levels. Upon the inception of true puberty at 11 yr of age in the older brother, gonadotropin responses normalized for the state of development. The data show that this activating LHR mutation does not cause functional ovarian hyperandrogenism and causes only incomplete pubertal activation of Leydig cells. The results are compatible with relatively low constitutive activity associated with this structural abnormality of LHR.

Adult↗

The mystery of the Doctor's son, or the riddle of West syndrome.

Although the eponym "West syndrome" is used widely for infantile spasms, the originators of the term and the time frame of its initial use are not well known. This article provides historical details about Dr. West, about his son who had infantile spasms, and about the circumstances leading to the coining of the term West syndrome.

Eponyms↗

Family adaptation to the traumatic spinal cord injury of a son or daughter.

The article presents the case history of a family in which an adolescent son receives a traumatic spinal cord injury. The focus of the study is on the adaptation of the family unit to the permanent disablement of their dependent child. The family's grief reaction is examined as are their patterns of adaptation in family task organization, affection, communication, and power structures. The authors also discusses the effect of the injury on specific intrafamily relationships and presents suggestions for clinical intervention.

Adaptation, Psychological↗

Terri Schiavo, Son Hudson, and 'nonbeneficial' medical treatments.

Two disputed cases about withholding life support (Terri Schiavo and Son Hudson) call for greater public discussion. Confusion arises from intermixing three kinds of cases: those (1) in which demanded treatment is physiologically futile, (2) involving competition for scarce resources, and (3) in which the treatment would likely achieve the patient's goals although the clinician perceives those goals to be valueless. This Perspective argues that clinicians should unilaterally refuse the first but do not have legitimate roles in blocking access to the second and third. Absent scarcity, patients should have access to effective life-prolonging treatments even if clinicians see no value in them.

Decision Making↗

"He won't be my son": Middle Eastern Muslim men's discourses of adoption and gamete donation.

In the Sunni Muslim world, religious mandates prohibit both adoption and gamete donation as solutions to infertility, including in the aftermath of in vitro fertilization (IVF) failures. However, both of these options are now available in two Middle Eastern countries with significant Shi'ite Muslim populations (Iran and Lebanon). On the basis of fieldwork in multisectarian Lebanon, I examine in this article attitudes toward both adoption and gamete donation among childless Muslim men who are undertaking IVF with their wives. No matter the religious sect, most Muslim men in Lebanon continue to resist both adoption and gamete donation, arguing that such a child "won't be my son". However, against all odds, some Muslim men are considering and undertaking these alternatives to family formation as ways to preserve their loving marriages, satisfy their fatherhood desires, and challenge religious dictates, which they view as out of step with new developments in science and technology. Thus, in this article I examine the complicated intersections of religion, technology, marriage, and parenthood in a part of the world that is both poorly understood and negatively stereotyped, particularly in the aftermath of September 11, 2001.

Adoption↗

Homovanillic acid and monoamine oxidase in sons of substance-abusing fathers: relationship to conduct disorder.

OBJECTIVE: Children of substance-abusing (SA) fathers have been found to have increased rates of conduct disorder (CD). Substance abuse and antisocial behavior have been linked to alterations in dopaminergic regulation and to monoamine oxidase (MAO) in adults. This study assessed the relationship between homovanillic acid (HVA), the metabolite of dopamine (DA), and MAO, the enzyme facilitating the conversion of DA to HVA, with CD in boys of SA and non-SA fathers. METHOD: Male youths (N = 65), between the ages of 6 and 15 years, admitted to a residential setting because of behavior problems, were studied through peripheral blood samples and structured interviews. RESULTS: The findings indicated that MAO activity was significantly higher in boys of SA fathers with CD than (1) in boys of non-SA fathers with CD and (2) in boys of SA fathers without CD. HVA levels did not differ significantly among the groups. CONCLUSIONS: In the context of previous studies, the findings support the concept of dopaminergic dysregulation in sons of SA fathers, manifested by alterations in MAO activity levels in those youths with CD.

Adolescent↗

Correlates of unpredicted outcomes in sons of alcoholics and controls.

OBJECTIVE: Several risk factors for alcohol abuse and dependence have been identified, including a family history of the disorder and a low response to alcohol. However, not everyone with these attributes develops an alcohol use disorder and some alcoholics have neither characteristic. This article evaluates factors that might have contributed to unexpected outcomes, in a prospective study of sons of alcoholics and controls. METHOD: 411 men with complete data at baseline (Time 1 or T1) and at 15-year (Time 15 or T15) follow-ups were studied using the level of response (LR) to alcohol, the family history (FH) of alcoholism, and additional alcohol and drug-related experiences at T1. T15 data included the development of alcohol abuse or dependence, along with the 15-year functioning in six domains for the subject, as well as the characteristics of his spouse. The men were divided into groups based on the presence of two major risk factors, low LR and FH, after controlling for several other characteristics, including antisocial personality disorder. RESULTS: Rates of alcohol use disorders increased across Group 1 (family history negative [FHN] and no low LR), Group 2 (either family history positive [FHP] or low LR, but not both) and Group 3 (both FHP and low LR). After controlling for FH and LR for Group 1, only T1 drinking quantity and T15 positive alcohol expectancies related to a diagnosis, but explained only 12% of the variance. The results improved to R2's of 0.26 and 0.36 for Groups 2 and 3, with additional predictors including the T1 history of alcohol problems and T15 measures of poor coping mechanisms, higher drinking in the environment and less nurturance in the social support system. CONCLUSIONS: Procedures aimed at discouraging earlier heavier drinking, altering attitudes toward alcohol early in life, teaching appropriate coping methods and developing support systems might help individuals carrying multiple risk factors to become more resilient.

Adaptation, Psychological↗

Parental son preference in seeking medical care for children less than five years of age in a rural community in Bangladesh.

We examined drug purchases for children less than five years of age from privately owned pharmacies in Matlab, a rural area in Bangladesh. The male to female incidence rate ratio was 1.71 (95 per cent confidence intervals = 1.27, 2.28) for overall drug purchase, and 2.94 (95% CI = 1.14, 7.73) for purchase of drugs prescribed by physicians. Our findings support and extend previous observations in this community of parental son preference in caring for children.

Bangladesh↗

Onset of physical impairment of independently living older adults and the support received from sons and daughters in The Netherlands.

This study examined the relation between the onset of physical impairment of older parents and the instrumental and emotional support received from adult children in the Netherlands. The data were derived from 1,313 older parents who participated twice in a large survey with an interval of about one year between the times of measurement. For the 356 parent-child relationships of the 186 parents who experienced an onset of physical impairment, the support intensities were compared with the support in the child relationships of parents who remained in good health. The results indicated that, given the onset of physical impairment, both sons and daughters are likely to increase the intensity of instrumental and emotional support to their parent, but the increase is the strongest in mother-daughter relationships. Multivariate regression analyses showed that the intensity of support was significantly determined by the onset of parental physical impairment, but even more so by the type of parent-child relationship.

Activities of Daily Living↗

Son preference, sex selection, and the "new" new reproductive technologies.

Throughout recorded history, humans have tried to influence the sex of their offspring, through pregnancy injunctions, infanticide, and infant/child neglect. Reproductive technologies developed in the late 20th century allow determination of the sex of the offspring during pregnancy, making "sex selection" through abortion possible. Especially in parts of East and South Asia, sex selection against female fetuses has had dramatic consequences for male/female sex ratios. However, "newer" new reproductive technologies, such as prenatal genetic diagnosis and DNA-weighted semen selection, can now be applied for sex selection; eventually, the latter technology may become easily accessible as a noninvasive method. The prospects of these new technologies for sex selection must be considered in the light of cultural values surrounding son preference / daughter discrimination in many parts of the world, most notably Asia, as well as preferences for a "gender-balanced" family in much of the West. The ethical issues surrounding these technologies, such as the right to life and the equal treatment of female children, are potentially profound, but legislating the appropriate use of these "newest" new reproductive technologies will be difficult.

Asia↗

A mother chimpanzee knows her son is sick.

A mother chimpanzee showed special care (high frequency grooming, holding, and carrying) of her child when he was sick, from which one may infer she seemed to know her son was sick.

Animals↗

Human parvovirus B19 infection with severe anemia affecting mother and son.

Two patients, a 43-year-old mother and her 12-year-old son developed severe anemia after a disease with fever, myalgia, rash and gastrointestinal symptoms. The infectious proved to be caused by human parvovirus B19 (IgM antibody titer rises). Investigations revealed that both patients suffered from spherocytosis, apparently hereditary and not known before. This emphasizes the importance of thorough hematological investigations in patients showing symptoms resembling a viral disease when seen in connection with severe anemia in order to reveal underlying chronic hemolytic disease. In patients with these diseases transient aplastic crisis will give a much more pronounced anemia than in otherwise healthy individuals.

Adult↗

Testicular malignancy in father and son. A case report.

The etiology of testicular cancer is unknown, but both environmental and genetic factors have to be considered. The recognition of the tumour in more than one member of a family, a rare occurrence, adds further material to the research of the etiology and might, therefore, be of general interest. To the few cases of testicular cancer occurring both in father and son reported in the literature, the present presentation adds another instance of embryonal metastasizing cancer.

Adolescent↗

Family adaptation: adult sons with long-term physical or mental illnesses.

A descriptive study of 62 family members with an outpatient adult son with a long-term physical (8 families) or mental (3 families) illness using multiple methods and multiple family members' perspectives. Family members completed FILE, FIRM, FAM-III. FACESIII, the Progress Evaluation Scale, and the Nottingham Health Profile. Single-item indicators were based on Rolland's (1988) psychosocial typology of illness, Mishel's (1988) components of uncertainty of illness, and selected demographics. On most of the instruments and their subscales, there were few statistical differences. Family members often did not report the same diagnosis. Based on the qualitative data, families coped by "just working with it" or "trying to step back."

Adaptation, Psychological↗