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[Treatment of congenital erythroderma ichthyosiforme in mother and son with the oral aromatic retinoid Ro 10-9359. The need for maintenance therapy].

Aromatic retinoid Ro 10-9359 (Tigason) administered in the doses 25-50 mg daily to two patients (mother and son) suffering from congenital non-bullous ichthyosiform erythroderma revealed complete disappearance of the clinical signs of the disease within two weeks. A relapse was noted in one patient 1.5 months after oral treatment was discontinued. The lesions disappeared again after 30 mg of Ro 10-9359 daily within 10 days. No side-effects were recorded. The tolerance of the drug was satisfactory. The obtained data showed a high efficacy of the oral aromatic retinoid in the therapy of congenital ichthyosiform erythroderma and point to the necessity of maintainance treatment with small daily doses of retinoid for longer time periods.

Adult↗

Achalasia in a father and son.

Two cases of achalasia are described in a father and son. This is only the second such occurrence reported. A review of the literature is presented supporting the possibility of transmission via autosomal recessive inheritance.

Aged↗

Familial Warthin's tumor. 1. Its synchronous occurrence in mother and son. 2. Its association with cystic oncocytic metaplasia of the larynx.

Warthin's tumor of the parotid gland is an unusual tumor for which a number of theories of pathogenesis have been advanced through the years, ranging from a branchiogenic origin to an embryonic lymph node origin to true neoplasia from parotid epithelial duct cells. Recently Allegra has suggested that Warthin's tumor may be a hypersensitivity disease. Presented here are two unique cases of Warthin's tumor, having both a familial relationship (synchronous occurrence in mother and son) and the association with cystic oncocytic metaplasia of the larynx. Observations lead to the conclusion that the lesion is primarily metaplastic, not neoplastic, with a secondary lymphoid reaction of the delayed hypersensitivity type.

Adenolymphoma↗

The familial occurrence of polycythemia vera: report of a father and son, with consideration of the possible etiologic role of exposure to organic solvents, including tetrachloroethylene.

The occurrence of polycythemia vera in a father and son, both of whom had intermittent exposure to organic solvents, including tetrachloroethylene and Stoddard solvent, is reported. Only three other well substantiated familial occurrences of polycythemia vera, none encompassing successive generations, were found among many reported instances.

Adult↗

Social workers' perceptions of older parents caring at home for sons and daughters with developmental disabilities.

Members of the American Association on Mental Retardation (AAMR) Social Work Division (N = 395) were surveyed to determine their perceptions of their role in assisting older parents in permanency planning. Practitioners, administrators, and educators similarly perceived ease in counseling aging families, but also noted their need for additional resources and specialized training. Written comments revealed (a) that the system must do more; (b) older parents are seen as different from other parents, with practitioners concerned about dependency in these parents' relationships with their sons and daughters and administrators attributing differences to past adverse system interactions; (c) parents old and young are alike in many ways; and (d) siblings should be involved in family caregiving. Recommendations were made with regard to meeting the special needs of older families, reducing "blaming" attitudes among social workers, and expanding best practice knowledge.

Activities of Daily Living↗

[Sigrid Undset's "views" on the father-son relationship. References in her writings].

Our Nobel prize winner, Sigrid Undset, is famous for her insight into female relationships and her descriptions of climate and flora. This article focuses on men's gender identity and the relationship between father and son in the Middle Ages, compared with our own times. In the light of today's psychological knowledge, it is remarkable how clearly she elaborates the characters of "her" men. We should therefore read the great authors, in addition to our professional papers.

Famous Persons↗

[Myelodysplastic syndrome developed in a mother and her son whose bone marrow karyotype showed monosomy 7].

Two familial cases of myelodysplastic syndrome (MDS) are reported, one of whom had an abnormal karyotype of 45, XY, -7 (monosomy 7). Case 1 was a 60-year-old woman developed dizziness and nasal bleeding. She was treated with blood transfusion alone. About 11 months after diagnosis, she died of pneumonia. Case 2 was a 22 year-old man, who was the son of case 1, developed febrile disease because of recurrent skin and oral mucosa infections. He had a partial response to low-dose of cytarabine. Thirteen months after diagnosis, he died of severe pneumonia. Both cases were diagnosed as having refractory anemia with excess of blasts due to peripheral blood and bone marrow findings. Both patients had pancytopenia, erythroid hyperplasia in bone marrow, marked dyserythropoiesis, recurrent infectious diseases and severe pneumonia that resulted in death. These symptoms resembled to those reported for monosomy 7 syndrome. Familial MDS with monosomy 7 is rarely reported. These cases are of interest to investigate hereditary factors of MDS.

Adult↗

Kabuki syndrome in son and low grade mosaic 45,X/46,XX in mother.

We report on a two-year-old boy with Kabuk syndrome and a normal male karyotype whose mother is a low grade mosaic 45,X/46,XX. We hypothesized that the son's Kabuki syndrome might have been caused by gonosomal uniparental (paternal) disomy DNA analysis proved this hypothesis to be incorrect. A review of twelve patients with Kabuki syndrome or Kabuki-syndrome-like features and chromosome abnormalities is presented.

Abnormalities, Multiple↗

The 1994 Isaacson Award Lecture: a prospective study of sons of alcoholics.

This paper reviews some recent developments concerning the role of genetic factors in alcoholism. The accumulated evidence suggests that genetic factors do play an important role in determining the alcoholism risk. However, the search for the specific genetic influences operating in this disorder is complicated by the existence of genetic heterogeneity, the absence of simple Mendelian models, and the impact of environmental factors in producing the final level of risk. After reviewing the complexities existing in this area, the author describes the efforts of his own research group to investigate the biological and genetically controlled risk factors at work in alcoholism. Through an ongoing longitudinal evaluation of sons of alcoholics and controls, the author's group has identified the potentially genetically influenced attribute of relatively low levels of sensitivity to an alcohol challenge as an important risk factor for the subsequent development of alcoholism.

Alcoholism↗

Agenesis of the corpus callosum in a mother and son.

Most reported familial cases of agenesis of the corpus callosum have followed either an autosomal recessive or an X-linked recessive pattern of inheritance. To the best of our knowledge, there is only one previous report of a family showing clear-cut autosomal dominant inheritance. We present the second such family, among whom a mother and her son had moderately severe coordination problems and low-normal intelligence. We suggest that agenesis of the corpus callosum, when transmitted as an autosomal dominant trait, is clinically characterized by a relatively milder phenotype than that occurring when inheritance is either autosomal or X-linked recessive and may be more common than has been thought.

Adult↗

Son preference and the demand for additional children in Pakistan.

This paper tries to take into account the sequential element in fertility decisions and continues an investigation originally begun by Namboodiri. We examine the extent to which the "desire to have additional children" can be explained by a variety of economic, sociological, and demographic variables. The probit maximum likelihood estimation procedure is utilized, and the analysis is based on cross-sectional data on 2,910 currently married women obtained from a national survey conducted in Pakistan in 1968-1969. The principal finding is the presence of a strong son preference both for the husband and for the wife.

Attitude↗

The binding of the son: psychoanalytic reflections on the symbiosis of anti-semitism and anti-gentilism.

Jewish ethno-reliqious history is analyzed as one pole of an interdependent Judeo-Christian system of opposition and symbiosis, in which reciprocal dissociation and projective identification function homeostatically to make history recur and to perpetuate what are ostensibly separate traditions. The nature of identification with the Father and with the Son is explored in the two traditions. Anti-Semitism and anti-Gentilism are seen as mirror images, reflecting what is ego-dystonic and ethosdystonic in Christianity and Judaism. It is argued that the Abraham-Isaac relationship is paradigmatic in Judaism and that throughout Jewish history, the Jewish people have accepted both the sacrificial role of Isaac and the punitive role of Abraham, with the paradoxical consequence that martyrdom is the unconscious symbol of survival.

Christianity↗

[Mitral valvuloplasty for the repair of mitral valve prolapse due to tendon rupture of the posterior leaflet in a father and son--case reports].

The use of mitral valvuloplasty for the repair of mitral valve prolapse in members of a family has been reported only rarely. Patient 1 was a 71-year-old man, and patient 2 the son of patient 1 was a 47-year-old man. Both patients had a grade 3/4 mitral valve regurgitation due to tendon rupture of the posterior leaflet. The procedure was quadrangular resection of the posterior leaflet with annulorrhaphy and ring annuloplasty. The results were good in both cases. Histopathological analysis of a specimen resected from the mitral valve revealed myxomatous degeneration in both cases. These case reports suggest that there is a genetic basis for mitral valve prolapse.

Aged↗

Two generations of spore research: from father to son.

Harlyn O. Halvorson has played an active and defining role in the field of microbiology for more than 40 years. In this article, he reminisces on the major influence that his father, H. Orin Halvorson, had in the direction of his professional life. The two H.O. Halvorson's, often confused in the literature, became one of the only two father and son pairs to head the American Society for Microbiology in 1954 and 1977, respectively. Major scientists of the era, their research and their collaborations, are remembered in relation to their main works. Harlyn O. Halvorson's interest in bacterial and yeast spores, and especially spore germination in bacilli, is the highlight of this memoir. His scientific research thrusts, leadership at Marine Biological laboratories, Woods Hole, NACSEX (North American-Cuban Scientific Exchange) and elsewhere, his dedication to advanced students and numerous other endeavors, both scientific and political, are told here.

Alanine↗

Binder syndrome in a mother and her son.

Binder syndrome or maxillonasal dysplasia is characterized by maxillary hypoplasia and a flat, vertical nose. Inheritance is uncertain. We report on a mother and her son with Binder syndrome. The proband was the last child of a kinship of seven children. Three sisters, three brothers and the parents were normal. The proband had a maxillary hypoplasia and a flat, vertical nose. The columella was short, the nostrils had a triangular shape and the upper lip was convex with an acute nasolabial angle. There were no dental abnormalities apart from those secondary to malocclusion. Height and intelligence were normal. After an uncomplicated pregnancy, the proband delivered a boy who had low nasal bridge, hypertelorism, maxillary hypoplasia and a small nose with a broad columella. Although the majority of cases of maxillonasal dysplasia are sporadic, familial occurrence has been reported by a number of authors. In six pedigrees the recurrence was in second or third degree relatives. Recurrence in sibs with unaffected parents has been observed seven times and an affected parent and child has been rarely reported. The Binder phenotype may be heterogeneous. The pattern of abnormalities seen in this condition does not represent a causally defined entity.

Adult↗

DNA analysis of a grandfather-father-son relationship from 300-year-old remains of the Date clan in Japan.

The grandfather-father-son relationship of the first three lords of the Date clan in Japan was ascertained by HLA-DNA sequencing analysis. From their hairs and dried lung tissue found in ca. 300-year-old remains, DNA was extracted with usual phenol-chloroform method followed by purification with cetyltrimethylammonium bromide (CTAB). Two HLA class II genes, HLA-DQA1 and -DPB1, were amplified by seminested, or dual/triple PCR. The PCR products were cloned and analyzed by automated sequencing. Since the three lords shared a haplotype of DQA1*0301-DPB1*0402, we concluded that there is no inconsistency in their lineage. This is the first case of biological evidence for a historical Samurai family relationship in the 17-18th centuries.

Base Sequence↗

Son of sevenless binds to the SH3 domain of src-type tyrosine kinase.

To identify molecules which bind to the SH3 domains of p56lck, we screened a mouse T-cell lymphoma cDNA library using the yeast two-hybrid system. As a result, we obtained several positive clones including the Son of Sevenless gene which encodes a mammalian homolog of Drosophila Ras GDP/GTP exchange factor. In a subsequent analysis with the yeast two-hybrid system, Sos associated only with the constitutively active form of p56lck (F505) but not with wild type p56lck (Y505), indicating the requirement for an active conformation of p56lck for binding to Sos. Subsequently, we have demonstrated in vitro that the SH3 domain of p56lck as well as the proline-rich sequences of Sos are responsible for this association. In addition, the proline-rich domain of Sos also bound to the SH3 domains of other src-type tyrosine kinases, src and fyn, but not to that of PLC-gamma. More importantly, the p56lck SH3-Sos interaction was enhanced by serum stimulation, suggesting the possibility that the direct interaction between p56lck SH3 and Sos may contribute to the regulation of the Ras pathway.

Animals↗

In honor of my father and my son.

The author advises survivors on the four tasks of grief and reflects on the suicide of her college-age son in 1977 and the recent death of her father, a suicidologist, from age-related causes. She describes current collaborative efforts by organizations dedicated to the prevention and aftermath of suicide.

Adult↗