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PubMed2026

'Sawa Aqwa' (Stronger Together): A multi-site randomized controlled trial of a brief family systemic intervention for adolescent mental health in Lebanon.

BACKGROUND: There are no evaluated family-based mental health and psychosocial support (MHPSS) interventions for adolescents in Southwest Asia (known as the Middle East), and few whole-family interventions in low- and middle-income countries, despite consistent evidence for the impact of family support on mental health and well-being. This study aims to evaluate the effectiveness of a brief family systemic mental health intervention, deliverable by non-specialists in mental health. METHODS: We conducted an assessor-blind type I hybrid effectiveness-implementation multi-site randomized controlled trial comparing the locally developed family intervention to a waitlist control group for randomly allocated families residing in North Lebanon and Beqa'a governorates. Eligible families presented with medium-to-high risk for child protection concerns (abuse, neglect, child labor, early marriage) and had at least one adolescent aged 12-17 who demonstrated psychological distress. Outcomes at the family, caregiver, and adolescent level were measured pre- and post-intervention, and at 3-month follow-up. RESULTS: Intent-to-treat analyses found a significant between-group effect of the intervention on adolescent-reported family functioning, caregiver mental health, and parenting. No change was found for adolescent psychological distress. Further analyses found effects on adolescent well-being for those who completed the intervention, and that father attendance was associated with better outcomes for adolescent well-being in the intervention group. No other significant moderators were found. At the 3-month follow-up for the intervention condition, family functioning and caregiver well-being significantly dropped from endline. CONCLUSIONS: The study demonstrates mixed results for a non-specialist-delivered family-systemic intervention developed in the context of humanitarian crises in Lebanon. While the intervention did not result in benefits in adolescent-reported symptoms of psychological distress, the intervention group did show greater improvements than the control group on a number of other outcomes, showing the potential impact of working with the wider family system to support adolescents in humanitarian settings.

Humans↗
PubMedDate not supplied

Monocyte function in familial Mediterranean fever.

Monocytes derived from the peripheral blood of patients with familial Mediterranean fever (FMF) demonstrated a consistently lower phagocytic capacity (38-44%) for 125I-labelled Shigella flexneri when compared to monocytes from healthy subjects. Phagocytosis of both viable and killed Staphylococcus albus was similar in patients and controls. However, FMF monocytes had a two- to eight-fold depressed bactericidal capacity against S. albus in comparison to normal monocytes. Acid phosphatase and beta-glucuronidase monocyte activities were similar in patients and controls. It is suggested that the defects in monocyte function may be of importance in the pathogenesis of FMF. Colchicine had no effect on any of the indices studied.

Adolescent↗
PubMed1977

Institutions without walls for emotionally disturbed children. Chedoke Child and Family Centre, Hamilton, Ontario.

The parent-therapist program was developed as an alternative to residential treatment centers for severely emotionally disturbed children. Five healthy nuclear families function in a group as an extended family. Each family receives a salary and is responsible for the care and protection of an emotionally disturbed child. Mental health professionals provide the parents with education and supervision. By the end of 1976 a total of 36 children ranging in age from six to 15 had been treated by 20 different parent-therapist couples for periods ranging from nine to 26 months. A comparison of the program with those of two residential centers showed that there was no difference in treatment outcome but that costs for the parent-therapist program were half those for the residential centers.

Achievement↗
PubMed2019

Decrypting noncoding RNA interactions, structures, and functional networks.

The world of noncoding RNAs (ncRNAs) is composed of an enormous and growing number of transcripts, ranging in length from tens of bases to tens of kilobases, involved in all biological processes and altered in expression and/or function in many types of human disorders. The premise of this review is the concept that ncRNAs, like many large proteins, have a multidomain architecture that organizes them spatially and functionally. As ncRNAs are beginning to be imprecisely classified into functional families, we review here how their structural properties might inform their functions with focus on structural architecture-function relationships. We will describe the properties of "interactor elements" (IEs) involved in direct physical interaction with nucleic acids, proteins, or lipids and of "structural elements" (SEs) directing their wiring within the "ncRNA interactor networks" through the emergence of secondary and/or tertiary structures. We suggest that spectrums of "letters" (ncRNA elements) are assembled into "words" (ncRNA domains) that are further organized into "phrases" (complete ncRNA structures) with functional meaning (signaling output) through complex "sentences" (the ncRNA interactor networks). This semiotic analogy can guide the exploitation of ncRNAs as new therapeutic targets through the development of IE-blockers and/or SE-lockers that will change the interactor partners' spectrum of proteins, RNAs, DNAs, or lipids and consequently influence disease phenotypes.

DNA↗
PubMed2026

How not to be seen: predicting unseen enzyme functions using contrastive learning.

MOTIVATION: Predicting enzyme function from its sequence is still an unsolved problem in the life sciences. Moreover, with the explosion of annotated genome data, we are inundated with potential enzymatic sequences that have not yet been biochemically characterized. While it is not possible to assign a not-yet-existing label to such a sequence, there is high value in placing the sequence as accurately as possible in known function space. Doing so can help provide more accurate falsifiable hypotheses for experimentalists wishing to characterize enzymes from specific functional families. RESULTS: Here we present a contrastive learning algorithm for predicting enzyme function from sequence. Our method, EnzPlacer, predicts the third, second, and first EC numbers for a protein whose fourth EC number is not in the training corpus. This novel prediction mechanism accurately places a protein sequence within a narrowed-down functional context, even if the precise function remains unknown. AVAILABILITY AND IMPLEMENTATION: EnzPlacer and data is available at https://github.com/drxiangma/EnzPlacer under a GPL3 license.

Enzymes↗
PubMed2026

How Not to be Seen: Predicting Unseen Enzyme Functions using Contrastive Learning.

MOTIVATION: Predicting enzyme function from its sequence is still an unsolved problem in the life sciences. Moreover, with the explosion of annotated genome data, we are inundated with potential enzymatic sequences that have not yet been biochemically characterized. While it is not possible to assign a not-yet-existing label to such a sequence, there is high value in placing the sequence as accurately as possible in known function space. Doing so can help provide more accurate falsifiable hypotheses for experimentalists wishing to characterize enzymes from specific functional families. RESULTS: Here we present a contrastive learning algorithm for predicting enzyme function from sequence. Our method, EnzPlacer, predicts the third, second, and first EC numbers for a protein whose fourth EC number is not in the training corpus. This novel prediction mechanism accurately places a protein sequence within a narrowed-down functional context, even if the precise function remains unknown. AVAILABILITY: EnzPlacer is available from https://github.com/drxiangma/EnzPlacer under a GPL3 license.

Contrastive learning↗
PubMed2025

Peripheral Macular Endothelial Dystrophy: Clinical, Histopathologic, Genetic and Functional Characterization.

OBJECTIVE: To report a CHST6-associated corneal endothelial dystrophy. DESIGN: Prospective observational case series. PARTICIPANTS: Thirty-five individuals from seven families, including 13 affected individuals exhibiting corneal epithelial and stromal edema, peripheral posterior corneal macular opacities, and endothelial guttae, as well as 22 unaffected family members. METHODS: Whole-exome sequencing was performed in 3 families and Sanger sequencing of CHST6 was performed in all individuals. Histological examination of Descemet membrane (DM) excised at the time of endothelial keratoplasty was performed for three probands. Serum keratan sulfate (KS) levels were measured in members of six families. Functional analysis of identified mutations was performed using CHST6 promoter containing CHST6 expression vector in human keratocytes (HK) and corneal endothelial cells (HCEnC). MAIN OUTCOME MEASURES: Clinical phenotype; genetic analysis; functional analysis of identified CHST6 mutations; serum KS levels; histologic examinations of DM. RESULTS: All affected individuals demonstrated peripheral macular opacities at the level of DM. Visually significant corneal edema in affected individuals was successfully managed by endothelial keratoplasty. Genetic analysis demonstrated a rare CHST6 promoter mutation (c.-690G>C) in the homozygous state in affected individuals from three families and in the compound heterozygous state with a CHST6 coding mutation (p.R211Q, p.Y268C or p.P280L) in affected individuals from the other four families. In silico analysis predicted c.-690G>C to be a regulatory variant, located at the RNA polymerase II binding site. Functional analysis in vitro demonstrated that c.-690G>C leads to increased KS sulfation in the corneal endothelium and DM, with no change of KS sulfation in keratocytes. Histologic examination of DM from affected individuals revealed elevated levels of sulfated and non-sulfated KS in DM and endothelium, consistent with the functional analysis. Minimum changes in serum sulfated KS levels were observed in affected individuals. CONCLUSIONS: We suggest the name Peripheral macular endothelial dystrophy (PMED) to describe this dystrophy that is characterized by peripheral posterior corneal macular opacities and endothelial dysfunction without stromal haze or opacities. Given that both PMED and macular corneal dystrophy are associated with promoter and coding region mutations in CHST6, we propose that they be categorized as CHST6-associated corneal dystrophies.

Humans↗
PubMed1979

Family awareness for nonclinicians: participation in a simulated family as a teaching technique.

This paper describes a course in family theory geared to "well" family members that combines didactic and experiential teaching techniques. A key feature of the course is that students participate in a simulated family for twelve weeks. Family therapists are skilled at using techniques that powerfully dramatize family process; they can provide a needed and useful service to the community by teaching the dynamics of families functioning to people who have a personal or professional interest in learning more about families.

Awareness↗
PubMed2026

Comparison of quality of life in children with posterior urethral valves, isolated hydronephrosis and minor urologic conditions.

OBJECTIVE: To compare the quality of life (QoL) and family impact scores of children with posterior urethral valves (PUV), isolated hydronephrosis (HN), and those with minor urologic conditions, referred to here as minor urologic controls (MUC). METHODS: From December 2022 to April 2025, the PedsQL Inventory and Family Impact Module (FIM) questionnaires were distributed to patients in dedicated PUV, HN, and community-based urology clinics. Higher scores indicate better QoL. Children &#x2265;8 years self-completed the questionnaires, while parents served as proxies for younger children. PUV patients were compared to HN patients and MUC. RESULTS: A total of 331 patients were included (124 PUV, 101 HN, and 106 MUC). The median age differed across groups, with HN patients being the youngest (median: 7 months), followed by MUC patients (median: 36 months) and PUV patients (median: 79.5 months). Overall, PUV patients scored similarly to HN patients and MUC in QoL and FIM scores. When stratified by age, however, PUV patients <2 years old had lower median scores in total QoL, psychosocial, and family functioning domains compared to other groups. CONCLUSION: Overall, PUV was not associated with lower QoL or family impact scores compared to comparator groups in this tertiary-care cohort; however, lower scores were observed among younger children with PUV, likely reflecting parent-perceived burden early in the disease course. This highlights the importance of age-tailored support and close monitoring, particularly for younger children and families navigating early post-diagnosis care.

Humans↗
PubMed1979

Practical problems in selection of spina bifida infants for treatment in the USA.

Seventy-five spina bifida infants were studied for results of selectin for treatment. The 31 nonoperated infants had a survival rate of 70% at 18 months, a figure higher than anticipated. Practical difficulties in adhering to the selectin protocol and controlling medical management in a large North American city were noted. Thirty-three surveyed parents of surgically repaired infants reported satisfaction with family function during the 18 months follow-up but discrepant scores increased with time.

Decision Making↗
PubMed1979

Typologies in social work practice.

Two examples of diagnostic-intervention typologies are presented as derived from case record review. A multidimensional classification combines the origin, location, and identification (via family diagnosis) of children's "behavior problems" with treatment strategies for each of the six types. In the second example, a prescriptive typology of families with a newly diagnosed retarded child draws upon family and crisis theories to help define problem areas of family functioning. The typologies are suggested as tools but not stereotypes for clinical social work practice.

Child↗
PubMed1979

Compensation-neurosis and the psycho-social requirements of the family.

This paper discusses the application of basic theories of family functioning to understanding the syndrome consisting of abnormal-illness behaviour centred around a recompensable illness or injury. It sets out the socio-cultural matrix out of which it arises and postulates that compensation-neurosis may be viewed as a homeostatic response of the family system when major psycho-social requirements are not being met and the family is under stress or in crisis. It looks at two common paradigms of compensation-neurosis as met in the rehabilitation unit of a large hospital, and at the application of the theory, and gives further examples of homeostatic adjustments to meet family requirements such as those of attachment. It also uses group and inter-group dynamics to further clarify the syndrome in psycho-social terms. It goes on the discuss the implications of these theories for prevention and management of this difficult syndrome.

Family↗
PubMed2004

The proneural proteins Atonal and Scute regulate neural target genes through different E-box binding sites.

For a particular functional family of basic helix-loop-helix (bHLH) transcription factors, there is ample evidence that different factors regulate different target genes but little idea of how these different target genes are distinguished. We investigated the contribution of DNA binding site differences to the specificities of two functionally related proneural bHLH transcription factors required for the genesis of Drosophila sense organ precursors (Atonal and Scute). We show that the proneural target gene, Bearded, is regulated by both Scute and Atonal via distinct E-box consensus binding sites. By comparing with other Ato-dependent enhancer sequences, we define an Ato-specific binding consensus that differs from the previously defined Scute-specific E-box consensus, thereby defining distinct E(Ato) and E(Sc) sites. These E-box variants are crucial for function. First, tandem repeats of 20-bp sequences containing E(Ato) and E(Sc) sites are sufficient to confer Atonal- and Scute-specific expression patterns, respectively, on a reporter gene in vivo. Second, interchanging E(Ato) and E(Sc) sites within enhancers almost abolishes enhancer activity. While the latter finding shows that enhancer context is also important in defining how proneural proteins interact with these sites, it is clear that differential utilization of DNA binding sites underlies proneural protein specificity.

3' Flanking Region↗
PubMed1978

Difficulties in family therapy evaluation. I. A comparison of insight vs. problem-solving approaches. II. Design critique and recommendations.

In Part 1, an outcome study comparing two methods of family treatment, is reported. Families were randomly assigned to one of two forms of conjoint therapy: an Insight-oriented treatment (N = 10) or a Problem-Solving intervention (N = 10). The results on self-report measures of family functioning indicate that the Problem-Solving intervention produced more favorable changes after three months. Experienced therapists did better than inexperienced therapists in the Insight-treatment condition but level of experience did not make a difference in the Problem-Solving therapy. A group of eight families who dropped out of the Insight-treatment group provided data on correlates of premature termination. In Part II, the study is critically reviewed. The practical obstacles to implementing an experimental design in a clinic setting are considered. Special attention is given to issues involving the selection of treatment and control conditions: sampling and the measurement of outcome. Alternatives to experimental designs are considered.

Adolescent↗
PubMed1979

Families of autistic and dysphasic children. I. Family life and interaction patterns.

Patterns of parent-child interaction and family functioning were systematically examined in well-matched groups of 15 autistic and 14 dysphasic children. The measures used included the Douglas 24-hour standard day analysis, the Brown and Rutter interview measure of positive interaction, the Ittleson scales (based on a four- to six-hour period of home observation, specially developed time-sampled measures of observed mother-child interaction at home), and the Eysenck Personality Inventory. The findings from all measures agreed in showing that family life and interaction patterns were closely similar in the two groups. The results were compared with those of previous investigations; we concluded that autism is most unlikely to be due to abnormal psychogenic influences in the family.

Activities of Daily Living↗
PubMed1976

Levoamphetamine vs dextroamphetamine in minimal brain dysfunction. Replication, time response, and differential effect by diagnostic group and family rating.

Double-blind crossover randomized Latin square comparison of placebo, dextroamphetamine, and levoamphetamine in 31 consecutively diagnosed children with minimal brain dysfunction (MBD) replicated a smaller nonrandom study. Both isomers showed significantly more benefit than placebo but were not significantly different from each other. Dextroamphetamine showed a nonsignificant trend of superiority over levoamphetamine. Of 25 subjects who responded well to drugs, three responded only to levoamphetamine, five only to dextroamphetamine, and 17 to both. This study seems to confirm the efficacy of levoamphetamine in MBD. An unsocialized aggressive subgroup (308.4) showed a nonsignificant trend for levoamphetamine superiority, in contrast to the hyperkinetic (308.0) and overanxious (308.2) subgroups. Those who responded best to levoamphetamine tended (not significantly) to be from poorer functioning families. Parents' ratings, but not teachers' or psychiatrists' ratings, showed significant placebo effect.

Amphetamine↗
PubMed2026

Longitudinal associations between family factors and the neurodevelopmental and psychosocial outcomes of children with congenital heart disease: A systematic review.

Family factors have been gaining increased attention in understanding adverse neurodevelopmental and psychosocial outcomes for children with congenital heart disease (CHD). To clarify relevance, we undertook a systematic review of only longitudinal studies which assessed such associations. Comparisons with the contribution of disease/surgical factors were also made where included studies considered such. We included longitudinal studies which assessed dynamic family factors (e.g. parent mental health, attachment, family functioning) and later child outcomes. Searches were conducted across CINAHL, Medline-Pubmed, PsychInfo and SCOPUS Web of Science. The NIH Quality Assessment Tool was used to evaluate study quality and risk of bias. Eighteen studies, utilizing data from 11 study samples and 2109 participants, met inclusion criteria. These studies included samples from infancy, with follow-up periods stretching into young adulthood, and with various degrees of CHD severity. The quality of studies was "good" to "fair", with key limitations of attrition and limited sociocultural diversity in samples. Findings suggested that family factors predicted later child psychosocial outcomes and more consistently than severity of disease indicators. This contrasted with a much smaller number of studies examining family factors and child neurodevelopmental outcomes, where no reliable conclusions could be reached. Findings highlight the importance of screening and family focused interventions for this population.

Child↗