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At least 19 recordsLinked to original sources
PubMed1975

Demonstration of the Rhesus haplotype CdE (r-y) in the genotype of 48 subjects from 8 families. Genotype CdE/CdE (r-yr-y) in 2 members of the same family.

Forty-eight individuals heterozygous for CdE (R-Y) haplotype were identified in the pedigrees of 8 kindreds containing 128 members. Two homozygotes CdE/CdE (r-yr-y) were found in a large inbred kindred. Our study among French blood donors of the Seine-Maritime region demonstrated that about one of two individuals possessing the Rhesus phenotype CcdEd (rh'rh') carried the CdE (r-y) haplotype.

Chromosomes↗
PubMed1977

Pituitary autonomy in hyperprolactinemic secondary amenorrhea: results of hypothalamic-pituitary testing.

Twenty-seven women with secondary amenorrhea of greater than six months duration were subjected to multiple testing of hypothalamo-pituitary function. They were divided into normo-prolactinemic (Group 1 mean serum prolactin (PRL) 9.8 ng/ml; range 6.8 to 13.0 ng/ml; n=9) and hyperprolactinemic (Group 2 mean 37.5 ng/ml; range 19.2 to 93.7 ng/ml; n=18) groups on the basis of 4 weekly baseline determinations. Group 2 had significantly (P less than .05) lower serum LH and urinary pregnanediol levels than did Group 1; there was no statistical difference between the groups in serum FSH, T4, T3 or urinary estrogen measurements. Two women in Group 2 were found to have a pituitary chromophobe adenoma. Group 2 women showed no significant rises in serum PRL following stimulation tests with thyrotropin releasing hormone (TRH, 200 microng iv) and metoclopramide (10 mg orally), which caused significant responses in Group 1. The TSH response to TRH was, however, preserved in Group 2, while it was subnormal in Group 1 subjects. Both groups showed similar FSH and LH responses to luteinizing hormone-releasing hormone (LHRH, 25 microng iv). No significant suppression of serum PRL was seen in Group 2 patients given L-Dopa (500 mg orally),, which produced a significant response (P less than 0.05) in Group 1 subjects, while all patient showed marked reduction in serum PRL values following 2-bromo-alpha-ergocryptine (CB-154, 2.5 mg orally). When compared with other Group 2 members, the 2 cases with proven pituitary adenomata gave similar responses to the stimulation-inhibition tests and were not clearly distinguished on this basis. We conclude: 1. The pattern of PRL responses to dynamic tests, although of pathophysiological interest an autonomous pituitary lesions in patients with hyperprolactinemic secondary amenorrhea. 2. Such dynamic tests, although a pathophysiological interest, provide no clinical information additional to that provided by the mean basal serum PRL value. 3. In clinical practice, such dynamic tests should be confined to patients with mean serum PRL levels at around the upper limit of the normal range.

Adult↗
PubMed2026

Genome-wide identification of the expansin gene family in Rosa rugosa and overexpression of RrEXPA1 contributes to drought and salt stress tolerance in Arabidopsis.

The expansin (EX) gene family plays a crucial role in the growth and development of various plants, as well as responses to biotic and abiotic stresses. However, genome-wide analysis of the EX gene family and their functions in drought and salt stress tolerance has not been examined in Rosa rugosa. In this study, a total of 30 RrEX genes were identified and located on seven different chromosomes. Phylogenetic analysis classified these genes into four subfamilies: EXPA (24 members), EXPB (3 members), EXLA (1 member), and EXLB (2 members). The average amino acid length was 269.17 aa, with isoelectric points ranging from 4.79 to 9.97. Most members exhibited high aliphatic indices and protein stability, suggesting their adaptability to diverse environments. The synteny analysis provided insights into the evolution of the EX gene family in rose. Toxicity and autoactivation assays confirmed that BD-RrEXPA1 was non-toxic to yeast cells and lacked autoactivation activity, indicating its suitability for yeast two-hybrid screening. The transgenic Arabidopsis lines overexpressing RrEXPA1 improved seed germination and root length under abiotic stress. In addition, the overexpression lines showed reduced malondialdehyde (MDA) levels and increased chlorophyll content and superoxide dismutase (SOD) activity. These results suggest that RrEXPA1 may enhance stress tolerance by promoting root elongation and modulating physiological responses. This study provides important insights into the role of RrEXs in salt and drought stress and lays the foundation for further studies on the regulatory mechanisms of abiotic stress.

Drought stress↗
PubMed2025

Rare pathogenic NR2F2 (COUP-TFII) variants as potential etiological causes in pediatric patients with congenital heart diseases (CHDs).

OBJECTIVES: Congenital heart diseases (CHDs) are complex genetic disorders, and their genetic basis is not yet fully understood. Nuclear receptor subfamily 2 group F member 2 (NR2F2 or COUP-TFII) encodes a transcription factor which is expressed at high levels during mammalian development. Few studies have identified heterozygous and rare variants in the NR2F2 gene in individuals with CHD. This study aimed to evaluate the association between pathogenic genetic alterations in NR2F2 with CHD risk. METHODS: A case-control study was conducted on a group of 135 patients (83 boys and 52 girls) with various types of non-hereditary, isolated CHD who were undergoing open-heart surgery. Additionally, 95 matched healthy children without syndromic or isolated heart abnormalities were selected. RESULTS: Using Sanger sequencing, we identified 5 heterozygous single nucleotide variants in exons 2 and 3 of the NR2F2 gene. These variations were novel and not present in any genomic variation databases. Four of the variations were missense mutations (p.Pro159Arg, p.Ser329Phe, p.Qln338Pro, and p.Tyr348Ser) and one was a synonymous variant (p.G361 = ) in the coding region. Importantly, in silico results indicated that the missense variants had pathogenic effects on protein function. Additionally, the missense variants substantially altered the predicted structure of COUP-TFII. CONCLUSION: The results we obtained not only validate the correlation between NR2F2 mutations and CHDs but also have significant potential for guiding new preventive and therapeutic strategies. This could contribute to the advancement of medical interventions in the fields of cardiology and genetics.

Humans↗
PubMed2013

Evidence for orphan nuclear receptor TR4 in the etiology of Cushing disease.

Cushing disease (CD) is a life-threatening disorder attributed to excess pituitary tumor-derived adrenocorticotrophic hormone (ACTH) and adrenal steroid secretion caused by pituitary tumors. Whereas CD was first described in 1932, the underlying genetic basis driving tumor growth and ACTH secretion remains unsolved. Here, we show that testicular orphan nuclear receptor 4 (TR4, nuclear receptor subfamily 2, group C, member 2) is overexpressed in human corticotroph tumors as well as in human and mouse corticotroph tumor cell lines. Forced overexpression of TR4 in both human and murine tumor cells increased proopiomelanocortin transcription, ACTH secretion, cellular proliferation, and tumor invasion rates in vitro. Conversely, knockdown of TR4 expression reversed all phenotypes. Mechanistically, we show that TR4 transcriptionally activates proopiomelanocortin through binding of a direct repeat 1 response element in the promoter, and that this is enhanced by MAPK-mediated TR4 phosphorylation. In vivo, TR4 overexpression promotes murine corticotroph tumor growth as well as enhances ACTH and corticosterone production, whereas TR4 knockdown decreases circulating ACTH and corticosterone levels in mice harboring ACTH-secreting tumors. Our findings directly link TR4 to the etiology of corticotroph tumors, hormone secretion, and cell growth as well as identify it as a potential target in the treatment of CD.

ACTH-Secreting Pituitary Adenoma↗
PubMed2026

Solutions for engaging priority populations in HIV cure research: a hybrid Delphi consensus-building process.

BACKGROUND: To achieve consensus on barriers and strategies to improve the engagement of three priority populations - Black and Latino/a/x individuals, cisgender women, and transgender women in HIV cure research. METHODS: We assembled a panel of 54 experts assigned to six groups in a hybrid Delphi process: (1) HIV community members, (2) biomedical researchers, (3) medical providers, (4) funders and private industry members, (5) bioethicists and regulators, and (6) social scientists. Over 18 months, we conducted four iterative survey rounds and three group discussions to identify barriers and strategies to arrive at a consensus on how to engage these priority populations in HIV cure research. RESULTS: For Black and Latino/a/x populations, the panellists identified inadequate outreach and a lack of accessible educational information as primary barriers and emphasised community-driven engagement and partnerships with trusted leaders as key strategies. For cisgender women, logistical hurdles, caregiving responsibilities and time constraints were identified as major barriers, with flexible trial designs and equitable compensation proposed as solutions. For transgender women, the lack of transgender-focused research design, including misrepresentation and exclusion, was identified as a key barrier, while centring transgender-specific needs in study design achieved consensus as the most effective strategy. CONCLUSION: Among all four priority populations, investment in outreach, engagement along the research process, better integration of health needs with research, and enhanced incentives are not novel ideas, but remain obviously ignored in a way that has led to underrepresentation of people in HIV cure research, who carry the greatest burden of HIV in the U.S. SUMMARY: This paper uses a hybrid Delphi process to identify and reach consensus on key barriers and strategies to engage underrepresented groups: Black and Latino/a/x individuals, cisgender women, and transgender women in HIV cure research across the United States.

Humans↗
PubMed1976

Hereditary dysrhythmic congestive cardiomyopathy.

A patient with hereditary congestive cardiomyopathy, who presented with recurrent episodes of life-threatening ventricular arrhythmias most often precipitated by exercise, is described. The condition is marked by either a progressive course, in which case congestive cardiac failure may set in towards the end, or by unexpected sudden death. The family tree could be traced for 10 generations. The information about the tenth generation firmly established that 4 members, 2 of whom had died, were affected. Other evidence suggests that the condition was the cause of death in 3 members of the eighth generation.

Adolescent↗
PubMed1978

Trichloroacetamidines, a new class of positive inotropic agents.

A series of trichloroacetamidine derivatives, obtained by addition of amines to trichloroacetonitrile, was evaluated for positive inotropic activity on isolated cat heart papillary muscles. Increased contractility, not antagonized by beta-adrenergic blockade with sotalol or reserpine pretreatment, was observed in this assay with a variety of N-substituted trichloroacetamidine derivatives. More extensive pharmacological studies with the 3-indolylmethyl analogue 2 showed that this amidine in dogs, 5 mg/kg iv, produced a positive inotropic effect more pronounced than that of ouabain, 50 microgram/kg iv. Several of the trichloroacetamidines were found to be inhibitors of guinea pig kidney and calf heart Na-K-dependent ATPase and to have specificity for these enzymes different from that of ouabain. Bacterial mutagenic activity was observed with three members, 2,3, and 12, of the series.

Acetamides↗
PubMed1977

Implementation of clinical pharmacy services in a cardiac rehabilitation unit.

The implementation of a comprehensive program for the rehabilitation of cardiac patients is discussed with primary emphasis on the clinical pharmacy services provided and the method of reimbursement for these clinical services. The three basic clinical pharmacy service objectives in the cardiac rehabilitation unit (CRU) are: (1) to provide drug information to the patient, his family and health-care team members; (2) to intensively monitor the drug therapy of all CRU patients, and (3) to evaluate the impact of pharmacy services being provided upon the quality of patient care and subsequent avoidable drug-related morbidity and mortality. The pharmacist is reimbursed for his clinical services from a percentage of the revenues gained from the higher room rate rather than from traditional dispensing functions and drug fees. It is concluded that the pharmacist is recognized as a necessary drug information source and an important member of the CRU team.

Cardiac Care Facilities↗
PubMedDate not supplied

The pregnant adolescent--a group approach.

This paper has described the groups for pregnant teenagers developed in the Rochester Adolescent Maternity Project. One and one-half year's experience with these groups has allowed the authors time to begin their study of groups and to write a descriptive paper of their evolution. The groups' development goes on while the leaders continue their own theoretical study of groups at this writing. Groups for pregnant adolescents have ranged from group therapy sessions to structured groups where only didactic material is presented. The literature is somewhat limited in its discussion of types of groups and especially in describing group process. This paper differs from others in that both group structure and process, based on the group objectives, are discussed. Information on approaches beneficial to the adolescent have been included. The goals of the group are to help the teenagers work through the developmental tasks of adolescence and pregnancy and to prepare them for the labor, delivery, and initial parenthood experience. Group structure is based on the intent to engage teenagers in resolution of these tasks in order to be prepared at a variety of levels, i.e. cognitive, emotional, etc., for labor, delivery, and parenthood. Co-leadership of the groups and an unstructured format facilitate the movement of the group toward accomplishment of its objectives. Group content issues were explored and techniques developed to handle these issues were suggested. Included were the following: 1. Commitment to the group by the members is assisted by the structure set for the group and the leaders' active outreach to members. 2. Descriptions of emotions and thoughts are made in concrete rather than abstract terms because of the developmental status of the teenagers. 3. Expression of personal feelings, often difficult for teenagers, is aided by the use of a projective technique. 4. Transition from leader-oriented to group-directed discussion is made possible by the group leaders gradually changing their leadership from one of direct interaction to one of facilitating discussion. 5. Polarization of the group in a negative or positive direction is prevented through the use of a neutral group member or active intervention by the group leaders taking on a neltral role. 6. Control, an issue of pregnancy and adolescence, is dealt with on interactional, educational, and emotional levels. 7. Termination is determined by the stage of the group "work" and is identified and facilitated by the group leaders. Research questions needed to document the effectiveness of the group approach to the pregnant adolescent were addressed.

Adolescent↗
PubMed1976

[Dimensions of experience in encounter groups. Empirical studies on client-centered group activities].

The experiencing of participants of client-centered encounter groups served to demonstrate possibilities and limits of current models of the group process. This was done by analyzing the correlations between 5 dimensions of experiencing and aims of group participation, personality variables, modus of participation i.e. patient, student, therapist, time of participation, and group setting. The experiencing dimensions included 1. sympathy, trust, understanding, and help between members, 2. freedom from anxiety and stress, 3. openness, controversy and feedback, 4. momentary strong and basic feelings in one's self and others, 5. understanding, help and closeness of the group facilitator. The results show: Successful group participation was to the extent of maximal 50% determined by the experiences immanent in the client centered group process concept. Personality variables measured by tests determined the experiencing in the group to an extent of maximal 10%, supposedly less than the group experiencing was influenced by special characteristics of the group development for example the initial phase of group formation, member characteristics like age, attitudes concerning group work, and conventions of social behaviour. Even less relevant as determinants of group experiencing were differences of group setting and social pressure in the direction of uniform experiences at least within the first 20 hours of group participation.

Evaluation Studies as Topic↗
PubMed1978

Hereditary pancreatitis in England and Wales.

Information from 72 patients from 7 families in England and Wales confirms that hereditary pancreatitis is inherited as an autosomal dominant conditions with limited penetrance. The degree of penetrance is approximately 80%. These patients have had recurrent attacks of abdominal pain starting from childhood or young adult life. The mean age of onset in the 7 families studied was 13.6 years. There were two peaks, with maximum numbers at 5 years and 17 years. The second peak was thought to represent genetically susceptible individuals having pain brought on by alcohol rather than representing evidence of genetic heterogeneity. Five of the 7 families had members with both childhood and adult ages of onset. Only 4 patients out of 72 had life-threatening disease and in the majority of cases the attacks of pain were of nuisance value only. Hereditary pancreatitis was implicated in only 1 patient's death and this was not definite. Patients appear to get better after a period of symptoms usually as they approach middle age, or after a severe attack. In older patients alcohol, emotional upsets, and fatty food appear to precipitate attacks. Pancreatic insufficiency (5.5%), diabetes mellitus (12.5%), pseudocysts (5.5%), and haemorrhagic pleural effusion are uncommon complications. Portal vein thrombosis occurred definitely in 2 patients and was suspected in 3 others. Carcinoma of the pancreas was not found in any of 72 patients studied in detail; however, 2 members from a family not visited personally had chronic pancreatitis and malabsorption going on to carcinoma. They may have suffered from a different disease. Genetic linkage information was too slight for many definite conclusions. However, there was no suggestion of linkage with any of the markers tested.

Abdomen↗
PubMed1975

X monosomy and 21 trisomy in a sibship.

The case of a sibship of 4, 2 members of which present aneuploïdy (45,X and 47,XX,21+) is reported. The paternal grandfather and grandmother are first cousins and there is a large number of centromeric associations in the father.

Adolescent↗
PubMed1976

The sexually exploited child.

Sexual exploitation of children (under 14 years of age) is a common occurrence, although actual numbers are unknown. There are three major forms of sexual abuse: (1) incest, ie, sexual activity between consanguineous family members; (2) sexual assault, such as rape or molestation by adults not related to the child; and (3) habitual sexual exploitation for purposes of financial reward or perverse sexual satisfaction. Brother-sister incest has the highest incidence in the middle and upper socioeconomic levels and is probably the least damaging, psychologically, to sexual adjustment later in life. Father-daughter incest is more common in the lower socioeconomic levels and is thought to produce major disorders in the psychosexual area. Sexual assault of children, if handled supportively and with understanding by the surrounding adults, including parents, physicians, teachers, law enforcement officers, and others, can result in minimal sequelae; however, often the situation is handled with emotional reactions ranging from disgust to hysteria which result in the child's being victimized and traumatized unnecessarily. These latter situations lead to sexual acting-out in adolescence, promiscuity, perversions, or frigidity in adult sexual life. Teachers, physicians, and child welfare workers need to be attuned to the possibility to sexual abuse in the children they serve.

Adaptation, Psychological↗
PubMed1979

Development, ultrastructure, and mode of transmission of Amblyospora sp. (Microspora) in the mosquito.

Amblyospora sp. in Culex salinarius (Coquillett) is transovarially transmitted and has 2 developmental sequences, one in each host sex. In females, the entire life cycle is restricted to oenocytes which become greatly hypertrophied due to the multiplication of diplokaryotic cells during merogony and come to lie next to ovaries. Sporulation occurs only after a blood meal is taken and is shortly followed by infection of the oocytes and subsequent transmission to the next host generation. In the male host, infections spread from oenocytes to adipose tissue where diplokaryotic cells undergo a 2nd merogony. During this merogonic cycle, the number of diplokaryotic cells greatly increases and the infection is spread throughout the body of the larval host. Sporulation is initiated with the physical separation of the 2 members of the diplokaryon and the simultaneous secretion of a pansporoblastic membrane. Subsequent meiotic division and morphogenesis result in the formation of 8 haploid spores enclosed with a pansporoblastic membrane. Buildup of spores and subsequent destruction of host adipose tissue prove fatal to the male host during the 4th larval stage.

Animals↗
PubMed1975

[Phylogenetic studies on some Japanese amphibia by mean of immunoelectrophoresis. I. Relationships of some frogs and newt to toad (author's transl)].

The phylogenetic relationship among toad, frogs and newt from Japan was investigated by means of immunoelectrophoresis. Homologous, heterologous and non-identity reactions between rabbit anti-Bufo bufo antiserum and antigen from each of 13 species and 2 subspecies of Japanese amphibia were examined. The number and positions of arcs appeared in these reactions were compared. The relationship observed in the comparison well coincided with the classification of the upper taxa of amphibia; viz 1) Hyla arborea is more intimately related to B. bufa, 2) members of Ranidae and Rhacophoridae have equal intimacy for B. bufo, and 3) Cynops pyrrhogaster is most distantly related to B. bufo. By contrasting arc obtained in non-identity reaction and those obtained in homologous reaction, it was found that toad, B. bufo carried 22 antigens, and among these antigens, one was observed through all amphibians tested, 12 were carried solely by toad, and some of the remainders were common to antigens carried by various frogs. Newts carried only one antigen common to toad. Based on these results, the phylogeny of Japanese amphibia was discussed.

Amphibians↗
PubMed2025

Integrating network pharmacology and experimental validation to uncover the synergistic effects of Huangqi ()-Ezhu () with 5-fluorouracil in colorectal cancer models.

OBJECTIVE: To evaluate the effects of Huangqi (Radix Astragali Mongolici)-Ezhu (Rhizoma Curcumae Phaeocaulis) (HQEZ) on colorectal cancer therapies and to elucidate the potential mechanisms of HQEZ, especially in combination with 5-Fluorouracil (5-FU). METHODS: The anti-tumor effects of HQEZ were evaluated in colorectal cancer models both in vivo and in vitro. The network pharmacological assay was used to investigate potential mechanisms of HQEZ. Potential target genes were selected by Gene Ontology (GO) enrichment analysis, Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis, protein-protein interaction network (PPI) and molecular docking. Within key targets, potential targets related to drug sensitivity, especially the sensitivity to 5-FU, were evaluated in HCT116 in vitro by immunofluorescence, quantitative real-time polymerase chain reaction (qPCR) and Western-blot. Then, changes in potential targets were assessed in tumors from tumor-bearing mice and the expression of these targets was also evaluated in colorectal cancer (COAD) patients from the Cancer Genome Atlas Program (TCGA) database. RESULTS: HQEZ significantly enhanced the anti-tumor activity of 5-FU in vivo and inhibit the growth of HCT116 in vitro. By network pharmacological analysis, key targets, such as protein kinase B (AKT1), epidermal growth factor receptor (EGFR), adenosine triphosphate (ATP) binding cassette subfamily B member 1 (ABCB1, also named multidrug resistance protein 1, MDR1), ATP binding cassette subfamily G member 2 (ABCG2), thymidylate synthetase (TYMS, also named TS), prostaglandin-endoperoxide synthase 2 (PTGS2), matrix metallopeptidase 2 (MMP2), MMP9, toll like receptor 4 (TLR4), TLR9 and dihydropyrimidine dehydrogenase (DPYD), were identified. Additionally, 4 potential core active ingredients (Folate, Curcumin, quercetin and kaempferol) were identified to be important for the treatment of colorectal cancer with HQEZ. In key targets, chemoresistance related targets were validated to be affected by HQEZ. Furthermore, 5-FU sensitivity related targets, including MDR1, TS, EGFR, ribonucleotide reductase catalytic subunit M1, Breast and Ovarian Cancer Susceptibility Protein 1 (BRCA1) and mutl homolog 1 were also significantly reduced by HQEZ both in vitro and in vivo. Finally, these validated key targets and 5-FU sensitivity related targets were demonstrated to be up-regulated in COAD patients based on TCGA database. CONCLUSION: HQEZ has synergistic effects on the anti-tumor activity of 5-FU in the treatment of colorectal cancer both in vivo and in vitro. The beneficial effect of HQEZ results from the inhibition of the drug sensitivity targets associated with 5-FU. The combination therapy of HQEZ with 5-FU or other chemotherapeutic drugs will also improve the anti-tumor efficacy of chemotherapy.

Humans↗