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[Sarcoidosis in a man and his identical twin sons].

Sarcoidosis is known to be a disease characterized by high familial aggregations. We reported on the genealogy of sarcoidosis in a man and his identical twin sons. The patient we encountered was a 49-year-old man admitted to our hospital because of abnormal chest X-ray findings observed during a medical checkup. Cervical and hilar lymph nodes were swollen on both sides, and lesions were observed in the right lung field. Biopsy specimens from cervical lymph nodes disclosed epithelioid cell granuloma without caseous necrosis. A diagnosis of sarcoidosis was made. The disease had also been diagnosed in the patient's identical twin sons 2 years earlier. They had been successfully treated and no recurrence has been observed. HLA typing disclosed that the father and his twin sons had identical A 33 (19), B 44 (12), DR 2, and DR 12 genes. This finding suggested that genetic factors are involved in the onset of this disease.

Adult↗

Sons, daughters or both?: an analysis of family sex composition preferences in the Philippines.

An analysis of family sex composition preferences as well as the relationship between actual family sex composition and desire for no additional children among a national sample of Filipino women is presented. An emphasis on balance or son-daughter equivalence is strongest in Metropolitan Manila. Son preference is highest in rural Mindanao and Sulu, primarily due to the concentration of Muslims in this section of the country and secondarily to its pioneer environment and the presumed utility of sons in such a milieu. The importance of eliciting sex composition preferences from both husbands and wives as well as distinguishing the "striking for a balance" from sex-linked preferences in future research is discussed.

Adult↗

Germ-cell malignant tumours in father and son.

Germ-cell malignant tumours occurred in a man and his son. The father, who had a teratoma of the right testicle removed 24 years ago, is presently alive and well. The son, who had a choriocarcinoma presenting as an abdominal mass, possibly originating in the testicle, died within 7 months of the diagnosis with metastases in the lungs, liver and retroperitoneum. This report documents the third such case of germ-cell neoplasms occurring in father and son.

Adult↗

Linking objects in the process of mourning for sons disappeared in war: Croatia 2001.

AIM: Mothers use linking object to externalize the complex aspects of their relationship to the loss of their child. We analyzed the linking objects that mothers kept in memory of their sons who disappeared in the 1991-1995 war in Croatia or whose remains were uncovered and identified long time after they had gone missing. METHOD: The case study of disturbed mourning included 26 mothers of Croatian soldiers from Croatian Osijek-Baranja County who went missing in war or whose remains were recovered and identified long after they had gone missing. The mothers were selected independently by the president of the Association of Families of Missing and Detained Croatian Soldiers and agreed to participate in the study in 2001. They were interviewed in their homes, their testimonies were recorded, and photographs of the linking objects taken. Linking objects were classified according to the Volkan's four-group classification. RESULTS: Out of four Volkan's groups of linking objects, we identified the objects belonging to the first three. Those were 1) objects that had been worn by the deceased (clothes, wrist-watch, ring, or glasses), (6/26); 2) objects that could be viewed in the psychoanalytic sense as an extension of the body of the disappeared or dead person, such as a camera (4/26); and 3) objects with realistic or symbolic resemblance to the deceased, usually a photograph (8/26). None of the examined objects belonged to the fourth Volkan's group (objects at hand when the news of the death came or objects present at the funeral, things that could be considered last-minute objects, ie, related to the moment when the deceased was last seen alive). However, 8/26 objects formed a new hitherto undescribed group. Mothers used such objects to create a memorial shrine to their sons. A photograph of the missing person or person whose remains were identified long after he had gone missing occupied a central place at the shrine, and was surrounded by other symbols of the Catholic iconography (Virgin Mary, crucifix), flowers, and candles. The memorial shrine to the beloved son who disappeared was always located in the room where the family spent most of their time and/or where guests were received (living room or kitchen). CONCLUSION: We found three out of four original (Volkan's) groups of linking objects, but also an additional one, hitherto undescribed, comprising objects used for designing a memorial shrine to the deceased. This could be viewed as an expression typical of Christian, mid-European Croatian culture and tradition.

Aged↗

A woman and her son with abnormal complicated anthrponotic cutaneous leishmaniasis.

Anthroponotic cutaneous leishmaniasis (ACL.) is known to cause single, self-healing and uncomplicated lesion mainly on the face. This paper presents a son and his mother with positive leishmaniasis IHAT (1/128 and 1/1924 respectively). The two isolates by enzymatic electrophoresis characterization proved to be Leishmania tropica that causes ACL. The son had two large ulcerative ACL on his left hand. The mother had a large ulceration and progressive erosion of the soft tissue (the right cheek and right eye) and the cartilage of the nose disfiguring and debilitating her face. The histpathological examination of the biopsy material obtained from the mother but not the material from her son, showed typical pathological picture of the basal cell carcinoma. No doubt, there are progressive changes in the pathogenesis of L. tropica and that it is one of the predisposing factor of the skin cell carcinoma.

Adolescent↗

[Coding part of the son gene small transcript contains four areas of complete tandem repeats].

Overlapping cDNA clones for the smaller son gene transcript were isolated by several steps of human placenta cDNA library walking. Here we report the structure of repeats that exist at the long open reading, present in the structure of this smaller (5.6 kb) transcript of human gene son. We were able to identify in this transcript four areas of complete tandem repeats, formed by several steps of duplication. For three of them the extent of homology between amino acid sequences of repeated elements is higher than between their nucleic acid sequences. It means that amino acid sequences of repeated elements are conserved, that could reflect the structural significance for the function of hypothetical protein product of human gene son. On the basis of the results of analysis we proposed the model for the formation of repeats by processes of duplication, mutation and natural selection pressure at the expressed protein level.

Amino Acid Sequence↗

Maternal distancing strategies toward twin sons, one with mild hearing loss: a case study.

The authors apply descriptive and sequential analyses to a mother's distancing strategies toward her 3-year-old twin sons in puzzle assembly and book reading tasks. One boy had normal hearing and the other a mild hearing loss (threshold: 30 dB). The results show that the mother used more distancing behaviors with the son with a hearing loss, and thus gave greater encouragement to this son's cognitive development. These results differ from those of previous studies of deaf or hard of hearing children, whose participants generally had severe or profound hearing loss. In those studies, parents of deaf children used more low-level distancing than parents of normally hearing children. The results of the present study are discussed in terms of their implications for the parenting of twins and of children with mild hearing loss.

Child Development↗

[Observation on clinical therapeutic effect of "mother-son" reinforcing-reducing method on stroke at restoration stage].

OBJECTIVE: To probe into the role of "mother-son" reinforcing-reducing method of five Shu points in clinical treatment of stroke at restoration stage. METHODS: Sixty-six cases of stroke were randomly divided into a treatment group (n = 34) and a control group (n = 32). The treatment group were treated by acupuncture at acupoints of The Hand-Yangming and The Foot-Yangming Channels, and "mother-son" reinforcing-reducing method of the five Shu for reinforcing deficiency and reducing excess according to deficiency and excess of channels differentiated by Cunkou Renying diagnosis; the control group were treated only by acupuncture at acupoints of The Hand-Yangming and Foot-Yangming Channels with uniform reinforcing-reducing method. Blood flow velocity in Cunkou and Renying Vessels before and after treatment were determined with transcranial Doppler ultrasono-blood flow meter and their clinical therapeutic effects were compared. RESULTS: There was a very significant difference before and after treatment in blood flow velocity in Cunkou and Renying vessels in the treatment group; the clinically basic recovery and markedly improving rate after treatment in the treatment group was significantly superior to that in the control group (P < 0.01). CONCLUSION: The acupuncture therapy of "mother-son" reinforcing-reducing method of five Shu points based on differentiation of yin, yang and deficiency and excess of channels by Cunkou and Renying Vessel methods can increase clinical therapeutic effect on stroke at restoration stage.

Acupuncture Points↗

[Pseudodominant inheritance of spinal muscular atrophy--father and son suffering from SMA].

Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disorder caused by mutations of the SMN1 gene. Because of the autosomal recessive type of transmission, the genetic risk of the disease in the following generations is small and is estimated to be about 1%. Here we present a case report of a father and son suffering from SMA. The father is affected with a mild form of SMA, with onset at about 13 years of age. The son suffers from SMA type 2, with onset at about 13 months of age. In both father and son, genetic analysis showed biallelic deletion of exons 7 and 8 in the SMN1 gene. The boy's mother is a carrier of the deletion at the SMA locus. Quantitative analysis revealed one copy of the SMN1 gene.

Adult↗

Paragonimiasis in Mae Hong Son Province northern Thailand: case report.

Two cases of paragonimiasis have been reported from Srisangval Hospital, Mae Hong Son Province, Thailand. These two patients (Thai-Karen) resided in Nam-Piang-Din, Mae Hong Son. The preliminary survey for epidemiological data in Nam-Piang-Din, Mae Hong Son revealed that most of Thai-Karen villagers had the habit of eating raw crabs and fresh water prawns. A survey for intermediate and reservoir hosts are still in progress and this area can be considered as an additional area for paragonimiasis in Thailand.

Adolescent↗

[Familial systemic lupus erythematosus in mother and son].

Although the etiology of systemic lupus erythematosus (SLE) is thought to be multifactorial, genetic factors may play some role in its pathogenesis. Supportive of this hypothesis are the studies of identical twins and familial cases of SLE. We describe below a family in which mother and son both developed SLE. The mother was diagnoged as SLE at age 25, and had been treated with prednisolone. In February 1989, she had massive proteinuria. The onset of the son's disease was at age 13 in 1988, when he noted erythema and photosensitivity. At admission to our hospital in 1989, he had polyarthralgia, proteinuria, positive antinuclear antibody, positive anti-DNA antibody. Both two patients had a same haplotype, HLA A2.BW61(40).DR9. Two asymptomatic members of this family were also studied, the younger son had positive antinuclear antibody and hypocomplementemia.

Adolescent↗

A case of mother-adolescent son incest: a follow-up study.

A case of mother-adolescent son incest is reviewed. The son was treated in psychoanalytic psychotherapy for nine years and seen in a follow-up study five years later. The incest is understood as a compromise formation in which most aspects of the positive oedipus are repressed, while limited direct or defensively altered expression of oedipal and preoedipal impulses are allowed. Superego development is considered as being complete, although the superego is pathologically malformed and is responsible for the patient's pervasive feelings of guilt and his extensive need for punishment for his incestuous behavior. These findings contradict the views of those who understand mother-son incest as representing only direct expression of positive oedipal wishes made possible by a weak, deficient superego.

Adolescent↗

Resolution of pathological identification between mother and son following rhinoplasty.

The case here described shows that severe psychological disturbance can be caused by identification between mother and son, resulting in preoccupation with a part of the body, which in the opinion of those outside the relationship, shows no gross abnormality. Similar delusional beliefs to those held by the mother were induced in the son, when he reached the age at which these beliefs occurred in the mother, in whom they were incompletely resolved. Plastic surgery, in the absence of gross deformity, brought relief of the distress caused by this type of psychopathology. Relief occurred in the conflicts of both mother and son, even though operation was on the latter, only.

Adolescent↗

[Testicular cancer in father and son].

The first report of the familial testicular cancers in a father and his son in Japan was presented. The father had right testicular seminoma at 41 years of age and his son had right testicular embryonal cell carcinoma associated with teratoma elements at 17 years of age. To date only 30 pairs of testicular cancers occurring in father and son have been reported worldwide. Survey of the literature suggested that hereditary factors might be involved in the familial occurrence of testicular cancers although there was no definitive evidence.

Adolescent↗

Timing of paternal substance use disorder cessation and effects on problem behaviors in sons.

The developmental timing of paternal substance use disorder (SUD) offset on internalizing and externalizing problem behaviors was examined in prepubertal sons. Analyses revealed a significant main effect of the developmental timing of SUD offset on both internalizing and externalizing problems. No differences were found between sons of control-subject fathers and SUD+ fathers whose offsets occurred before the son's sixth birthday. However, when paternal SUD extended beyond the boys' sixth year, significant increases in internalizing and externalizing problem behaviors were found. The results suggest the importance of early parental SUD intervention in prevention of the intergenerational transmission of behavioral problems.

Age Factors↗

[Evaluation of a newborn in a critical state, son of a mother with preeclampsia/eclampsia (pregnancy toxemia)].

The objective was to determine clinical characteristics and evolution of the neonate in critical status, son of mother with preeclampsia/eclampsia, in a neonatal intensive care unit (NICU). And looking for differences between the son of mother with preeclampsia and the mother with eclampsia. Revision of 425 charts of discharged neonates of a NICU. Infants of mother with preeclampsia/eclampsia were included. Was done the variables by means of descriptive statistics are analyzed, and t Student and chi square for the comparative study. 88 neonates were included, 46 of preeclampsia and 42 of eclampsia. Their characteristics were (X +/- SD): Maternal age 25 +/- 4 years, birth weight 1587 +/- 601 grams, gestational age 32 +/- 3 weeks. Apgar to the one minute 5 +/- 1. Apgar to the five minutes 6 +/- 1. All required mechanical ventilation during 8 +/- 9 days, NICU stay 12 +/- 10 days. Predominated masculine sex 63.2%, and with mortality 21.8% average. In the comparative study, preeclampsia vs eclampsia, of the same variables we found significant difference in; birth weight 1858 +/- 654 vs 1340 +/- 422 grams; gestational age 33 +/- 3 vs 31 +/- 2 weeks, and in nosocomial pneumonia 7 vs 33. Most of these neonates were preterm, with Apgar low, prevailed masculine sex, all required mechanic ventilation with stay of 12 days average in the NICU, mortality was low. And the son of mother with eclampsia presented more pneumonia nosocomial.

Apgar Score↗

Engagement of the T lymphocyte antigen receptor regulates association of son-of-sevenless homologues with the SH3 domain of phospholipase Cgamma1.

One mechanism for transducing signals downstream of lymphocyte receptor activation involves the stable association between signaling proteins. To identify protein ligands of the signal activator phospholipase Cgamma1 (PLCgamma1), we screened T cell cDNA libraries with the PLCgamma1-SH3 domain by the yeast two-hybrid assay. We observed association between the PLCgamma1-SH3 domain and the human Ras guanine nucleotide exchange factor son-of-sevenless-2 (hSos2) through a proline-rich domain interaction. Stable and abundant hSos2 / PLCgamma1 and hSos1 / PLCgamma1 complexes were observed in unstimulated T cells. The interaction between these enzymes was augmented following engagement of the T cell antigen receptor (TCR / CD3). The kinetics of protein complex enhancement correlated with TCR / CD3-induced tyrosine phosphorylation of PLCgamma1; however, those PLCgamma1 molecules in complex with hSos2 were non-phosphorylated after TCR / CD3 stimulation, in contrast to the phosphorylated PLCgamma1 associated with the linker for activation of T cells, LAT. The Grb2 adapter protein was detected in complex with hSos / PLCgamma1, suggesting a regulatory role for Grb2. SH3 domains from both Grb2 and PLCgamma1, but not RasGAP, bound directly to hSos homologues. The SH2 domain from Grb2 formed an association with the hSos / PLCgamma1 complex, which was enhanced following TCR / CD3 ligation. Together, the data suggest a mechanism for the son-of-sevenless and PLCgamma1 signal transducing enzymes in recruitment to protein complexes with potentially differential signaling consequences in T lymphocytes.

Adaptor Proteins, Signal Transducing↗

Mammalian homologues of the Drosophila Son of sevenless gene map to murine chromosomes 17 and 12 and to human chromosomes 2 and 14, respectively.

Activating mutations in the ras genes are commonly found in a wide range of human tumors. We recently cloned two mammalian genes, Son of sevenless 1 (mSos1) and Son of sevenless 2 (mSos2), whose protein products appear to be important positive regulators of ras proteins. Given the proposed role of Sos proteins in ras regulation, and the frequent occurrence of activated ras alleles in tumor cells, we were interested in determining whether the Sos genes may also be activated inappropriately by DNA rearrangement in tumor cells. To investigate this possibility, we have determined the chromosomal locations of both the mouse and the human Sos1 and Sos2 genes, using a combination of genetic linkage analysis and in situ hybridization to chromosomal spreads. We find that the murine Sos1 and Sos2 genes map to chromosomes 17E and 12C3.3-D and their human counterparts to chromosomes 2p21-2p2 and 14q21, respectively. Neither the human nor the mouse Sos loci map close to known mutations or to regions showing consistent karyotypic abnormalities in tumor cells.

Animals↗