Two cases of cystic fibrosis in Japanese/German twins

We report a case of twins with cystic fibrosis. The twins are of mixed parentage, having a Japanese mother and a German father. One case presented with meconium ileus as a neonate. The other twin was relatively healthy until the age of 6, when she was first hospitalized with a diagnosis of pulmonary aspergillosis. They have been receiving standard therapies in the United States, including digestive enzymes, vitamins, and periodic antibiotics. At the age of 19 both patients received home intravenous antibiotic therapy, and began to use an inhaled DNase at the age of 20. When the patients were 19 they were screened for the common mutations causing cystic fibrosis, and the delta F508 CFTR mutation was identified. We analyzed their CFTR genes, as well as those of their Japanese mother and grandmother. Missense mutations at exon 7 (R347H) and exon 16 were found (D979A) in the twins and in their Japanese mother.     

Prospective, randomized, controlled study comparing two dosing regimens of gentamicin/oral ciprofloxacin switch therapy for acute pyelonephritis

Mice were exposed to phenobarbital or heroin [diacetylmorphine (DAM)] prenatally by feeding the mother phenobarbital on gestation day 9-18; DAM was injected into the mother on gestation days 9-18. At the age of 50 days, mice exposed to phenobarbital or DAM prenatally were examined for long-term biochemical changes in the postsynaptic septohippocampal system as measured by alterations in formation of the second messenger inositol phosphate (i.p.). A significant increase in i.p. formation in response to carbachol was found after prenatal exposure to DAM. An increase in i.p. formation in response to 20 mM KCl alone or in the additional presence of 10 mM carbachol or 1mM physostigmine was found after prenatal exposure to phenobarbital or DAM. In addition, a significant increase in IP formation in response to sodium fluoride was found after prenatal exposure to phenobarbital or DAM. It is suggested that an increase in G-protein activation and in the second messenger formation accompanies the early drug-induced upregulation of the muscarinic receptors found in our previous studies.     

Categories of response to reunion with the parent at age 6: Predictable from infant attachment classifications and stable over a 1-month period.

Describes the development of a system for classifying attachment organization at age 6 on the basis of study of children's responses to unstructured reunions with parents. In a study of 33 families, 6th-year attachment classifications to mother were highly predictable from infancy attachment classifications to mother (84%), with Ss secure in infancy identified as secure on reunion at age 6 (Group B); and Ss insecure-avoidant in infancy identified as insecure-avoidant (Group A); Ss who were insecure-disorganized/disoriented identified as controlling of the parent (Group D). Lower predictability (61%) was found for attachment to father. An insecure-ambivalent (Group C) 6th-year classification was developed following the Berkeley study. In a 2nd study of child–mother dyads, (N?=?50), 62% of Ss were stable in (A, B, C, and D) classification across a 1-mo interval. When D children were reassigned to their best-fitting alternative A, B, or C categories, stability was high both for major classifications (A + B + C?=?86%) and for 7 subclassifications (A1, A2, B1/B2, B3, B4, C1, C2?=?76%). Avoidance of mother was stable across the 5-yr and the 1-mo periods. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis

Inherited mutations of the Fas/Apo1/CD95 gene, a cell-surface receptor involved in cell death signaling and in the control of self-reactivity, characterize the recently identified autoimmune lymphoproliferative syndromes. A patient with type 2 autoimmune hepatitis with the immunologic and genetic features of autoimmune lymphoproliferative syndrome is described. The clinical picture was dominated by liver disease with hepatosplenomegaly and positivity for anti-liver-kidney microsome 1 and anti-liver-cytosol 1 antibodies. A marked increase in CD3+CD4-CD8-T lymphocytes and inherited mutations in Fas alleles that led to the expression of a soluble form of the protein were also found. Fas-mediated apoptosis was deficient in the patient as it was in her mother and her sister, who carried the same allele 2 mutation. This observation links type 2 autoimmune hepatitis, an organ-specific disease, with a genetically determined defect in peripheral tolerance control.     

Freud, father, and mother: Quantitative aspects.

The frequency with which Freud used father and mother in his psychological writings was investigated. Overall, he used father much more frequently than mother. This difference began with those writings that followed his father's death and his self-analysis. A most striking, though transitory, reversal followed immediately upon the death of his mother. The data suggest that Freud blended objective, scientific, and sublimated, personal issues in his parental psychology. An ancillary result shows the yearly creation of the pages of his psychological writings. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Rearing of glossina palpalis gambiensis Vanderplank, 1949 (Diptera-Muscidae) at Maisons-Alfort

In a forensic case of disputed paternity an apparent mother/child incompatibility with respect to red cell acid phosphatase was found, the mother appearing as type A and the child as type B. Determination of electrophoretic type and of acid phosphatase activity in 8 of the family members strongly suggested the presence of a silent gene PO in 4 of the individuals. The phosphatase levels in the four heterozygotes were about half the values expected from normal values determined in 100 healthy adults representing the different phenotypes. The distribution of red cell acid phosphatase types in 3,735 unrelated Danish adults and in 1,109 mother/child pairs is reported; gene frequencies Pa = 0.369, Pb = 0.566 and Pc = 0.065. The PO gene frequency was roughly estimated as 0.001. Results are reported on the application of the red cell acid phosphatase system to 300 2-men cases of disputed paternity.     

Intravascular ultrasound. Three-dimensional applications and forward viewing

Variation in HIV-1 genomic RNA was studied in seroconversion samples from mother-child pairs from a Rwandan cohort. The mothers (n = 8) were heterosexually infected and their children (n = 6) were vertically infected by breast milk. Five of the children seroconverted within the same 3-month period as did their mothers. Highly homogeneous subtype A V3 and p17gag sequence populations were observed in three mother-child pairs, one of the two nontransmitting mothers, and one child (mean nucleotide distances 0 to 0.9%). Heterogeneous populations of subtype A V3 and p17gag sequences were found in one mother and a mother-child pair (1.4 to 2.8% for V3, 1.0 to 1.9% for p17). The second nontransmitting mother was infected with a heterogeneous AV1-V3/Cp17-p24 recombinant virus population (3. 8% for V3, 2.4% for p17). Finally, in one woman subtype C V3 sequences were observed, in addition to highly homogeneous subtype A V3 and p17gag sequence populations, also found in the child. Coexistence of subtype AV1-V3 and CV1-V3 env sequences in the mother was confirmed in a follow-up sample. The gag gene of both the maternal and the child's virus population represented an A/C recombinant sequence (Ap17/Cp24). An infection with subtype CV1-V3/p17-p24 was found upon testing of three additional participants of the mother-child cohort, indicating that subtype C is present in Rwanda. In conclusion, heterogeneity, coinfection, and intersubtype recombinants are not uncommon in primary HIV-1 infections in Rwanda.     

Family structure and the mental health of children. Concurrent and longitudinal community-wide studies

This study provides a map of variations of families and some of the core relationships between types of family and the mental health of children. Family types in a poor, black urban community were defined in terms of the adults present at home. The resulting taxonomy is based on two populations: half of the community's 1964 first-grade children and families and the entire 1966 first-grade children and families. Eighty-six family types were found, falling into ten major classes. Family type was found to be strongly related over time to the child's social adaptational status (SAS) and his or her psychological well-being. The results suggest that (1) mother alone families entail the highest risk in terms of social maladaptation and psychological well-being of the child; (2) the presence of certain second adults has important ameliorative functions--mother/grandmother families being nearly as effective as mother/father families, with mother/stepfather families similar to mother alone in regard to risk; and (3) the absence of the father was less important than the aloneness of the mother in relation to risk.     

Sociability with peer and mother during the first year.

32 infants were videotaped with their mothers and a peer 9 times (3 visits at 6, 9, and 12 mo). Three hypotheses concerning the social behaviors were examined: that interactions with mother and peer differ in characteristic activities and functions, that interactions with peers grow out of earlier mother–infant interactions, and that behaviors with the 2 partners are characterized by underlying consistency. Support for the 1st and 3rd hypotheses was found. Ss were more likely to look at and vocalize to the peer but were more likely to touch the mother. A negative correlation was found between the frequencies of Ss' touching mother and touching peer. The absence of toys affected the 2 systems similarly, and similar patterns of growth were apparent over time. Significant positive correlations were found between the frequencies of the smiles and vocalizations to the 2 partners. In light of these results, a model is proposed in which underlying infant sociability is reflected somewhat differentially with mother and peer. Reasons for the lack of support of the precursor hypothesis are explored. (14 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Myotonic dystrophy, syringomyelia, and 2/13 translocation in the same family

The present report describes a sibship with 2 individuals affected by myotonic dystrophy and a third with syringomyelia. The mother was affected by myotonic dystrophy. A balanced 2/13 translocation was detected in the individual with syringomyelia, in one affected by myotonic dystrophy and in their clinically normal father. The association between the phenotypic anomalies and the chromosome alteration is coincidental.     

Bioavailability and effect of pirimicarb on Daphnia magna in a laboratory freshwater/sediment system

In tests with newborn and one-week-old Daphnia magna, 48-h EC50 values of 21-24 microg/L and 16 microg/L pirimicarb, respectively, were found. Older animals thus were as sensitive to pirimicarb as newborn animals. In an experiment with sediment included in the test system, all mother animals survived for 72 h at 20 microg/L, and the number of offspring was not reduced relatively to the control. Addition of sediment thus reduced the toxicity of pirimicarb toward Daphnia magna. Pirimicarb was accumulated 12-16 times (5-7% of total) in the sediment, but the water concentrations of pirimicarb were not reduced significantly during the experiment, due to the small amount of sediment used. Accumulation in the sediment was found independent of the water concentration used. This was also the case with bioaccumulation in Daphnia magna, where a bioaccumulation factor of 31-37 was found on a dry weight basis. In water without sediment a BCF of 50 was found. Addition of sediment also reduced the accumulation of pirimicarb in the daphnids. The reduced bioavailability of pirimicarb may derive from humic acid and related compounds released from the sediment.     

Spontaneous glucose intolerance in the progeny of low dose streptozotocin-induced diabetic mice

Multiple low doses of streptozotocin (LDS) induce low-incidence diabetes mellitus in Balb/cHan and high-incidence diabetes in CD-1 mice. We studied offspring of diabetic parents in both strains. Group 1 consisted of litters from control mice with no streptozotocin treatment. Group 2 litters had an LDS diabetic mother and a control father, group 3 litters had control mother with LDS diabetic father, and group 4 litters had both, LDS diabetic mother and father. Diabetes was induced by 5 x 40 mg streptozotocin per kg on five consecutive days. Progeny of diabetic mothers showed a state of reduced glucose tolerance associated with reduced glucose disappearance during intravenous glucose tolerance test and increased insulin secretion of isolated islets of Langerhans. These metabolic abnormalities predominated in the male litters of both strains of mice. Amniotic insulin was increased in diabetic mothers during pregnancy. No histologic abnormalities were observed in group 2 progeny. Pancreases in male offspring of LDS diabetic CD-1 fathers (group 3) were studied for insulitis. Insulitis was found in 40% of mice with normal glucose tolerance. A single subdiabetogenic dose of streptozotocin (40 mg/kg) induced insulitis in 90% of pancreases accompanied by reduced insulin release of isolated islets. By contrast, male Balb/cHan progeny of diabetic fathers failed to develop insulitis. In conclusion, we found (1) parental LDS diabetes was transmitted more often to male offspring, (2) maternal LDS diabetes was associated with hyperinsulin secretion and glucose intolerance in the offspring and (3) paternal LDS diabetes was accompanied by insulitis and insulin secretion deficiency in CD-1 progeny.     

Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene

OBJECTIVE: Hereditary progressive dystonia with pronounced diurnal fluctuation [(HPD)/dopa responsive dystonia (DRD)] is a childhood onset dystonia which responds to levodopa. Various clinical signs and symptoms of HPD/DRD have been recognised to date. Mutations in the GTP cyclohydrolase I (GTP-CH-I) gene were recently identified as the cause of HPD/ DRD. In the present study, the GTP-CH-I gene and the clinical features of eight HPD/DRD patients from six families were analysed to determine the correlations between clinical expression and the mutations in the GTP-CH-I gene. METHODS: The exons, exon-intron junctions, and an indispensable part of the 5' flanking region of the GTP-CH-I gene were sequenced in the eight clinically diagnosed patients with HPD/DRD and their asymptomatic parents. RESULTS: Three independent mutations in the GTP-CH-I gene were found in three patients. One of the patients and her asymptomatic mother were heterozygous for a novel mutation at the initiation codon. The three patients with dissimilar GTP-CH-I mutations exhibited similar clinical features. The other five patients with normal sequences presented several features not manifested by the three patients with the mutations. No mutation was found in the 5' flanking region of any patients or their parents. CONCLUSIONS: A novel initiation codon mutation was found in a Japanese patient with HPD/DRD. The clinical manifestations common to the patients with HPD/ DRD with a mutated GTP-CH-I gene were also identified. Although focal manifestations of HPD/DRD associated with the mutations of this gene will be broadened, it is inferred that these clinical features are fundamental to HPD/DRD caused by mutations in this gene.     

Labyrinthine malformations. Genetical and radiological aspects

A family is described, three members of which presented progressive deafness, of mixed type, not present at birth. The two living, mother and daughter, exhibited a Mondini-like malformation of the labyrinth. The canaliculus cochleae was delated in the daughter. In addition, a middle ear malformation was found in the mother. The findings, being unique, are discussed in the light of Brown-Farrior og Endicott's paper on progressive, noncongenital deafness, attributed to abnormally wide canaliculus cochlea.     

An automated method for the simultaneous determination of pravastatin and its main metabolite in human plasma by high-performance liquid chromatography/atmospheric pressure chemical ionization mass spectrometry

An unexpected t(1;19) translocation is described in a fetus. Inherited from the mother, this translocation was found during the course of a normal prenatal diagnosis made for maternal age. The very short length of chromosomal translocated segments and their labelling pattern made high-resolution cytogenetic methods and fluorescence in situ hybridization techniques necessary for the correct identification of this karyotype rearrangement, both in mother and fetus. Different modes of meiotic segregation, leading to potential erroneous prenatal diagnoses, are discussed.     

Familial insensitivity of the pituitary and periphery to thyroid hormone: a case report in two generations and a review of the literature

A clinically euthyroid 2-yr-old girl was found to have diffuse goiter that measured 3 X 5.5 cm with a prominent systolic bruit. Serum free T4 (3.4 ng/dl) and serum T3 (360 ng/dl) remained elevated for the next 10 months even though she remained clinically euthyroid. Elevation of serum free T4 (3.0 ng/dl) and serum T3 (265 ng/dl) was also present in the 24-yr-old nongoitrous mother who had symptoms and signs of hypothyroidism. Following intravenous injection of TRH, basal TSH levels of 2.7 and 2.8 microunits/ml increased to peak values of 17 and 21 microunits/ml at 30 min in the daughter and mother, respectively. Administration of exogenous T3 followed by sequential testing with boluses of TRH revealed retention of TSH responsiveness in both daughter and mother during pretreatment with dosage regimens of T3 below 125 micrograms daily. Maintenance of TSH responsiveness to TRH in the presence of elevated levels of serum free T4 and serum T3 indicates relative pituitary insensitivity to thyroid hormone which could be overridden by increasing the circulating levels of serum T3 three to fivefold over the already elevated basal levels. The absence of clinical signs of thyrotoxicosis indicates peripheral insensitivity to thyroid hormone with elevated circulating concentrations presumptively compensating for the defect. Resistance to thyroid hormone in two generations of the same family suggests genetic inheritance, and is concordant with four earlier reports of familial aggregation in this syndrome.     

Donor insemination: child development and family functioning in lesbian mother families

Findings are presented of a comparative study investigating the family relationships and the emotional and gender development of children raised in lesbian mother families. A total of 30 lesbian mother families with 4-8 year old children created as a result of donor insemination (DI) were compared with 38 heterosexual families with a DI child and with 30 heterosexual families who had a naturally conceived child. A variety of assessment measures, including a standardized interview and questionnaires from the parents and psychological testing of the child were used to collect the data. The quality of the couples' relationships and the quality of the mother-child interaction did not differ between lesbian mother families and either of the heterosexual family groups. The quality of the interaction between the social mother and the child in lesbian families was superior to that between the father and the child in both groups of heterosexual families. Childrens' own perception of their parents was similar in all family types; the social mother in lesbian families was regarded by the child to be as much a 'parent' as the father in both types of heterosexual families. With regard to their emotional/behavioural development, boys and girls raised in lesbian mother families were well adjusted and their gender role development did not differ from that of children raised in heterosexual families. These results indicate that child and family development in lesbian mother families is similar to that of heterosexual families.     

Sensory control of maternal aggression in Rattus norvegicus..

Three experiments, with nulliparous Wistar rats, investigated the effects of restricted pup exposure and male exposure on maternal aggression and the incidence of olfactory exploration of an intruder by the mother rat. It was found that a decline in maternal aggression occurred when the litter was placed in a glass flask while remaining in the home cage. In contrast, maternal aggression persisted following placement of the pups in a nylon mesh bag. The pups did not vocalize while in the mesh bags, suggesting that olfactory cues from the offspring constitute a critical element in the maintenance of maternal aggression in the rat. It has been suggested that the odor not only of the pups but also of the intruder may contribute to eliciting aggressive behavior in lactating rodents. In line with this proposal, it was found that mother rats spent about one-third of the time preceding the 1st attack sniffing the body of the intruder. In contrast to findings in mice, housing of the prospective intruder behind a double wire mesh partition in the lactating female's home cage failed to reduce her aggressiveness toward him. Rats may require more intimate contact with an individual than do mice for the aggression-reducing effect of familiarization to be observed. (30 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Prenatal diagnosis of Apert syndrome

Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report documents an affected mother and son in whom one of the two mutations in AS had occurred sporadically in the mother. The diagnosed of AS was based on associated abnormal physical features and on molecular genetic analysis. A C-to-G transversion at position 937 of the cDNA resulting in a proline-to-arginine substitution at codon 259 was found in the mother. In her second pregnancy, prenatal diagnosis by both restriction analysis and direct sequencing was undertaken and this showed that the female fetus had not inherited the mutation.