Family Group Research Articles

Displasia do desenvolvimento do quadril: série de casos no Rio Grande do Norte

Developmental dysplasia of the hip (DDH) represents a spectrum of anatomical abnormalities of the hip. The objective of this manuscript is to report the atypical presentation pattern of developmental dysplasia of the hip present in a family group in Rio Grande do Norte and to emphasize the importance of early diagnosis performed through the Ortolani and Barlow maneuvers. Both orthopedic clinical tests are essential in screening for changes in the hip joint in the newborn and should preferably be performed from birth to approximately three months of age. In addition, requesting complementary ultrasound of the hip could be indicated. Pediatric patients with developmental hip dysplasia treated at the Children’s Rehabilitation Center were atypical clinical cases because they had male predominance in a family group in Rio Grande do Norte/RN, Brazil. It is concluded that this report emphasizes the need for early and adequate clinical evaluation by the physician for all newborns, regardless of gender, as well as the creation of a protocol which meets the suspicion parameters for requesting an ultrasound of the hip joint in newborns in order to diagnose and treat this condition early, thus reducing the need for surgical treatment and its complications.

Decoding the Prevalent High-Risk Breast Cancers: Demographics, Pathological, Imaging Insights, and Long-Term Outcome.

Objective: To investigate the features and outcomes of breast cancer in high-risk subgroups. Materials and Methods: REB approved an observational study of women diagnosed with breast cancer from 2010 to 2019. Three radiologists, using the BI-RADS lexicon, blindly reviewed mammogram and MRI screenings without a washout period. Consensus was reached with 2 additional reviewers. Inter-rater agreement was measured by Fleiss Kappa. Statistical analysis included Mann-Whitney U, Chi-square tests for cohort analysis, and Kaplan-Meier for survival rates, with a Cox model for comparative analysis using gene mutation as a reference. Results: The study included 140 high-risk women, finding 155 malignant lesions. Significant age differences noted: chest radiation therapy (median age 44, IQR: 37.0-46.2), gene mutation (median age 49, IQR: 39.8-58.0), and familial risk (median age 51, IQR: 44.5-56.0) (P = .007). Gene mutation carriers had smaller (P = .01), higher-grade tumours (P = .002), and more triple-negative ER- (P = .02), PR- (P = .002), and HER2- (P = .02) cases. MRI outperformed mammography in all subgroups. Substantial to near-perfect inter-rater agreement observed. Over 10 years, no deaths occurred in chest radiation group, with no significant survival difference between gene mutation and familial risk groups, HR = 0.93 (95% CI: 0.27, 3.26), P = .92. Conclusion: The study highlights the importance of age and specific tumour characteristics in identifying high-risk breast cancer subgroups. MRI is confirmed as an effective screening tool. Despite the aggressive nature of cancers in gene mutation carriers, early detection is crucial for survival outcomes. These insights, while necessitating further validation with larger studies, advocate for a move toward personalized medical care, strengthening the existing healthcare guidelines.

#2755 NURTuRE-CKD: outcomes by primary renal diagnosis

Abstract Background and Aims Chronic kidney disease (CKD) represents a major global healthcare challenge, affecting approximately 850 million people worldwide [1], and is an independent risk factor for the progression to kidney replacement therapy (KRT) and all-cause mortality [2]. However, CKD encompasses various causes, each with unique pathophysiology and rates of progression [3]. Here we describe the outcomes from NURTuRE-CKD, an ongoing, multicenter prospective cohort study of 2996 non-dialysis CKD patients, by primary renal diagnosis, aiming to describe the differing rates of progression, ESKD and mortality by CKD cause and provide insights into those at greatest risk. Method Patients with an eGFR of 15–59 mL/min/1.73 m2 or eGFR ≥60 mL/min/1.73 m2 with a uACR >30 mg/mmol were enrolled, in addition to 86 controls. The full study design and methods of NURTuRE-CKD have previously been reported [4]. Outcomes: ESKD, eGFR <15 mL/min/1.73 m2, Transplantation, initiation of KRT, all-cause mortality and serial eGFR data were sourced from the UK Renal Registry. ESKD was defined as initiation of KRT or eGFR <15 mL/min/1.73 m2. Rate of progression was determined via eGFR slope. ERA diagnostic categories were used for primary renal diagnoses, with ‘glomerular diseases’ split into glomerulonephritis (GN) and vasculitis. The Chi-squared test was used to compare categorical variables, and the Kruskal-Wallis test for continuous variables. A multivariable Cox proportional hazards regression analysis predicting the time to ESKD by primary diagnosis was undertaken, using vasculitis as the reference category. Model 2 included adjustments for baseline eGFR. Results Table 1 depicts both the baseline characteristics and outcomes by the 8 diagnosis categories. Average follow-up duration was 53.8 months, not significantly different between the groups, but all other baseline variables differed significantly. The hypertensive/renovascular group were oldest and familial group youngest at 71 and 53 years, respectively. At baseline the diabetic nephropathy (DN) group had the lowest eGFR 28 ml/min/1.73 m2 and highest uACR 88.3 mg/mmol. However, the familial group had the steepest pre-enrolment eGFR decline slope. Delta eGFR during the follow-up period was steepest in the familial group and DN groups at −3.4 and −3.0 ml/min/1.73 m2, respectively, whereas the vasculitis group had slowest progression −0.7 ml/min/1.73 m2. Overall rate of ESKD was 24.7%; lower in the vasculitis (14%), systemic disease (17.7%) and tubulointerstitial (18.8%) groups, and higher in the DN (36.7%) and familial (31.6%) groups. All-cause mortality was greatest in the DN group at 40.4%. Despite being the fastest progressors defined by eGFR slope, the familial group had the lowest mortality rate (5.2%), but they were of younger age and had a high rate of kidney transplantation (10.1%). Unadjusted HRs for ESKD, were significantly higher for all diagnoses except tubulointerstitial and systemic diseases compared to the vasculitis group; DN evidenced the highest hazard ratio at 3.15 (2.18-4.55). When adjusted for baseline eGFR, HRs for the glomerulonephritis 2.04 (1.89-4.03), diabetes 1.5 (1.04-2.16) and familial 2.76 (1.89-4.03) remained significantly higher. Conclusion Rates of progression and incidence of clinically meaningful outcomes differ between CKD causes in NURTuRE. Those with DN and familial conditions had faster eGFR decline and had higher rates of ESKD, with associations persisting despite controlling for baseline eGFR. Recognising that CKD progresses at different rates is crucial, not only for providing personalised care, but also key to understanding differing pathophysiologic mechanisms of progression. NURTuRE-CKD will also explore novel biomarkers, with the aim of illuminating mechanisms of progression, improving risk prediction and highlighting novel drug targets.

Henry Moore: Neo-Working-Classicist

With his Family Group of 1948–49, Henry Moore seemed to have reneged upon his early-career commitment to modernist experimentation, pivoting towards a more representational style for this large public sculpture, his first major bronze, sculpted for and installed in one of the first purpose-built secondary modern schools of post-war Britain. The results aren’t easy to define stylistically. Figurative, certainly, but barely concealing a stockpile of references ranging across centuries and continents. In this essay I will explore the implications of Moore’s stylistic shift with respect to both the contexts of the work’s conceptualisation and Moore’s personal investment in the opportunities presented to work publicly in that context. Moore’s working-class origins will be identified as foundational in the formation of an ideology given plastic purpose in this period, whilst the narratives of working-class experience at mid-century will be drawn upon to account for the ways this work relates to that period of social change. Taking Andrew Causey’s identification of an affinity between Moore’s work at this time and Picasso’s ‘neo-classical’ period in the years after the Great War as a starting point, I will explore the consequence of Moore’s ostensibly retrogressive turn towards figuration with respect to the questions of context and intent that have informed writings on Picasso before proposing alternative terms on which Moore’s figurative turn might be understood, tied up with the socio-political upheavals of mid-century Britain. Banner Photograph: Acervo Judith Lauand, 'A artista Judith Lauand (à esq.) e o escultor britânico Henry Moore (à dir.) durante workshop para monitores da 2ª Bienal de São Paulo ministrado em dezembro de 1953' ['Artist Judith Lauand (left) and British sculptor Henry Moore (right) during a workshop for monitors at the 2nd São Paulo Biennial held in December 1953']. Public domain, via Wikimedia Commons.

Correction to: Impact of Family Group Conference Referrals at Pre-Proceedings Stage on Child Outcomes: A Randomised Controlled Trial

Correction to: Impact of Family Group Conference Referrals at Pre-Proceedings Stage on Child Outcomes: A Randomised Controlled Trial

Survey of patient satisfaction with genetic counseling services in Korea.

Since the 1990s, genetic clinics have been established in South Korea, enabling the provision of clinical genetics services. However, genetic counseling services are not widely used in the medical system. In contrast, recently, the demand for genetic counseling has increased due to the rapid development of genomic medicine. Therefore, it is important for medical geneticists and genetic counselors to collaboratively provide genetic counseling services. This study aimed to evaluate the perception and satisfaction of patients with rare genetic diseases and their families regarding genetic counseling services provided by a genetics team at the medical genetics center of a tertiary general hospital for rare genetic diseases. From April to November 2021, a survey was conducted with 203 individuals, including 111 and 92 individuals in the patient and family groups, respectively. Overall, 164 individuals (80.8%) responded that they were aware of genetic counseling services, and 135 individuals (66.5%) responded that they were aware of the role of genetic counselors. Patients and their families wanted to receive information about the following from genetic counseling: clinical manifestation and prognosis of the diagnosed disease (78.8%), treatment and management of the disease (60.6%), risk of recurrence within the family (55.7%), treatment options and alternatives for family and prenatal testing, and various support services. The score of satisfaction with genetic counseling services provided by the genetics team was 8.19 ± 1.68 out of 10. Patients with rare genetic diseases and their families were satisfied with genetic counseling services regarding their diseases, test results, and treatment options. Moreover, the patients could receive psychosocial support and referrals to other medical service providers and support services. As a genetic team approach, collaboration between medical geneticists and certified genetic counselors would be useful in providing information and in diagnosing, treating, and managing patients.

The longitudinal impact of an evidence-based multiple family group intervention (Amaka Amasanyufu) on family cohesion among children in Uganda: Analysis of the cluster randomized SMART Africa-Uganda scale-up study (2016-2022).

Family functioning plays a critical role in childhood disruptive behavior disorders (The Family Journal, 2003, 11(1), 33-41; Research in Nursing and Health, 2016, 39(4), 229-243). Yet, there is limited research on the impact of evidence-based family strengthening interventions on improving family cohesion as a protective factor among children experiencing behavioral challenges. To address this gap, we analyzed data (N = 636) from the SMART Africa-Uganda study (2016-2022), a cluster randomized clinical trial testing an evidence-based family-strengthening intervention called Amaka Amasanyufu (translated as "Happy Families" in the local language). Children aged 8-13 and their caregivers were recruited from 26 public primary schools that were randomized to: (1) control condition receiving generalized psychosocial literature (10 schools), (2) intervention delivered via parent peers (eight schools), and (3) intervention delivered via community healthcare workers (eight schools). Children completed the family cohesion questionnaire at baseline, 8 weeks, 16 weeks, and 6 months post-intervention completion. The intervention effectiveness was evaluated via a three-level logistic mixed effects model with pairwise comparisons across study conditions within each time point. Participants in the parent-peer intervention group had greater odds of being in the higher family cohesion group than participants in the control group at 8 weeks (OR = 3.24), 16 weeks (OR = 1.88) and 6 months (OR = 2.07). At 8 weeks, 16 weeks, and 6 months, participants in the community health worker group had 3.98, 2.08, and 1.79 times greater odds of being in the higher family cohesion group than participants in the control group, respectively. Our findings strengthen the evidence base for Amaka Amansayufu as an effective intervention that can be utilized in SSA to improve family cohesion in families with children experiencing behavioral challenges.

TIAP: an observational procedure for assessing family relationships: a clinical case from the parenting evaluation context.

TIAP is an observational procedure to assess family functioning detecting simultaneously the role of each participant and the interdependence of relational behaviors. In particular, the procedure requires family members to play according to different interactive configurations (parent1-children; parent2-children, all together, children and parents as separate units) and therefore different microtransitions from one configuration to another. As such, the procedure allows to study how family members coordinate to maintain stability, promote change, and encourage members to explore different interactive configurations within the family system. TIAP has been validated through several studies conducted with different non-clinical groups of families that have highlighted the salient aspects of family functioning, and significant correlations with variables external to the family system, such as children's social-emotional competence in the educational context. This paper focuses on the use of TIAP in the contexts of assessing parental competence. Specifically, the article aims to describe, through the reference to a clinical case, the results emerged from a study conducted with 33 families involved in a parenting assessment process. The study is part of a broader collaborative project between the Child and Adolescent Neuropsychiatry Clinic of the Italian National Health Service in Parma, the University of Parma, and the Bologna Family Therapy Center. TIAP was administered to all the families involved as a complement to other tools routinely used for all cases handled by the professionals of the clinic. The coding system includes different indices. Some analyze the interactive family modes: family coordination (mutual attention and responsiveness), the responses to potentials for change (disregard, absorption, amplification), and intra-familiar exploration. Other indices concern the quality of the interactions: the relational triadic dynamic of microtransition (detaching-entrusting-welcoming-joining) and the consistency/inconsistency of the communication channels. The results highlighted how TIAP makes it possible to identify the specific interactive modalities of the different members and their interdependence and reciprocity, favoring the identification of both family weaknesses and family resources, including the children's contribution. Furthermore, the general data trend showed that TIAP indices detect some important prognostic elements capable of guiding the court's decisions.

Farming is charming: Informal learning of farmers in Coimbatore, Tamil Nadu, India

The agricultural sector in India has come to prominence as a source of employment and livelihood. It is one of the most significant informal sectors in the country, and one in which informal learning plays a major role. This article analyses the informal learning of farmers in Coimbatore, Tamil Nadu, India. In the course of this research, qualitative interviews with 34 farmers in Coimbatore were conducted and analysed with regard to informal learning. The findings show that informal learning is lifelong and chiefly takes place at home in a family and peer group context. Informal learning is facilitated by training courses specifically adapted to farmers’ needs, which can help them improve their situation on their respective farms. However, not every farmer attends these courses, indicating a need to strengthen the programmes, conduct information campaigns to raise awareness, and improve accessibility, especially for farmers and agricultural labourers.

Protocol: The effect of restorative justice interventions for young people on offending and reoffending: A systematic review.

This is the protocol for a Campbell systematic review. The objectives are as follows. The primary aim of this mixed methods review is to synthesise the available evidence regarding the effectiveness of restorative justice interventions (RJIs) for reducing offending and reoffending outcomes in children and young people. We are also particularly interested in the impact of RJIs on children and young peoples' violent offending and violent reoffending. A second aim of the review is to examine whether the magnitude of effectiveness of RJIs may be influenced by study characteristics such as the population (e.g., age, ethnicity, or sex), the form of intervention (e.g., face-to-face mediation compared to family group conferencing), the place of delivery of the intervention (e.g., in independent office, in court), implementation (e.g., trained facilitators, dose, fidelity) and methodology (e.g., randomised controlled trial).The third aim of the review is to synthesise the qualitative evidence about RJ to develop a better contextual understanding of how these programmes may work and to elucidate factors that might increase the efficacy and implementation of RJ interventions. The specific research questions this systematic review aims to address are: (1) Do RJ interventions reduce children and young people's involvement in offending or reoffending relative to a comparison group? [RQ1]. (2) Is there variation in the impact of different RJ approaches on young people's involvement in offending or reoffending? [RQ2]. (3) Is there variation in the impact of RJIs on children and young people's offending or reoffending depending on the characteristics of the participants taking part in the RJI (e.g., sex, age, ethnicity)? [RQ3]. (4) What characteristics of RJIs, influence the effectiveness of RJIs for children and young people's offending and reoffending? [RQ4]. (5) What are the most notable barriers and facilitators, as reported by participants (e.g., the victims, children/young people, or mediators who have taken part in an evaluation of an RJI, or those children or young people who were meant to take part in an evaluation but ultimately did not), to the implementation of RJIs to reduce later offending or reoffending? [RQ5].

Clinico-Metabolic Profile and Follow-Up of Familial Cases Compared to Sporadic Cases in a Lyon Series of Type 1 Diabetic Children.

This study aimed to describe the clinical, biochemical, therapeutic, and progressive characteristics of children with familial type 1 diabetes (T1D) compared to those with non-familial T1D. Compare within the first group, the phenotype of type 1 diabetics inherited from the father with those inherited from the mother. We conducted a retrospective study lasting 10 years at the L'hôpital Femme Mère Enfant (Woman-Mother-Child Hospital) in Lyon, France. Cases were any child diagnosed with T1D for at least 12 months who had a parent with T1D. Each case was matched with a T1D control without a family history of T1D, of the same age, same sex and same year of discovery. Cases group was divided into two subgroups according to the sex of the parent with T1D. A total of 43 children had a TD1 parent (family group) of whom 27 cases were the father. Forty four T1D children without any T1D parent were matched (sporadic group). The family group had consulted earlier (p < 0.001), were less in initial diabetic ketoacidosis (p = 0.016), and had a lower HbA1C level lower (p < 0.001) and lower initial insulin requirements (p < 0.001). During follow-up, it was noted that the evolution of Hb1AC, insulin requirements, and chronic complications were similar in familial and non-familial cases (p = 0.943, p = 0.450, p = 0.664, respectively). The patients in the T1D mother group seemed better balanced than those of the T1D father with an average HbA1C at 10 years of follow-up of 7.82% in the maternal group compared to 9.10% in the paternal group (p = 0.021). This study shows that familial T1D is a protective factor against the initial severity of T1D in offspring. Paternal T1D presents a more severe initial and progressive clinico-biological character than T1D inherited from the mother. However, during follow-up, other psycho-environmental factors could modify this observation.

An antifungal compound secreted by termite workers, phenylacetic acid, inhibits the growth of both termite egg-mimicking fungus and entomopathogenic fungi

Social insects live in closely related family groups but face risks of intrusion and infection by pathogenic and parasitic microbes. To cope with the microbes invading their nests and feeding sites, social insects produce various types of antimicrobial substances. Subterranean termites occupy microbe-rich decaying wood and soil at high density, expanding their nest area by exploring and feeding on wood outward from the royal chamber (room for kings and queens). Although antimicrobial agents have been identified in many termite species, few studies have investigated those used by foraging workers in decaying wood under development, which is richer in microbes than the well-sterilized royal chamber and its surroundings. Here, we report that phenylacetic acid, an antifungal aromatic compound, is secreted by foraging workers of the Japanese subterranean termite Reticulitermes speratus. The compound was detected by gas chromatography–mass spectrometry analysis of ethyl acetate extracts of shelter papers infested with the workers, and antimicrobial tests demonstrated that it inhibits the germination and/or mycelial growth of the entomopathogenic fungi (Metarhizium anisopliae and Beauveria bassiana) and the termite egg-mimicking fungus Athelia termitophila. Our study provides new insights into the antimicrobial defense mechanisms of termites, including by combining different types of antimicrobial substances secreted by different castes, and thus the survival strategy of entomopathogenic and parasitic fungi in termite nests.

The Efficacy of Restorative Justice Programs in Reducing Recidivism Rates

Purpose: This study sought to assess the efficacy of restorative justice programs in reducing recidivism rates. Methodology: The study adopted a desktop research methodology. Desk research refers to secondary data or that which can be collected without fieldwork. Desk research is basically involved in collecting data from existing resources hence it is often considered a low cost technique as compared to field research, as the main cost is involved in executive’s time, telephone charges and directories. Thus, the study relied on already published studies, reports and statistics. This secondary data was easily accessed through the online journals and library. Findings: The findings reveal that there exists a contextual and methodological gap relating to restorative justice programs in reducing recidivism rates. Preliminary empirical review revealed that restorative justice interventions were effective in reducing reoffending and promoting positive outcomes for both offenders and victims. Through processes such as victim-offender mediation and family group conferencing, restorative justice provided opportunities for offenders to take responsibility, repair harm, and engage in rehabilitation. While acknowledging variations in effectiveness based on offender characteristics and program implementation, the study highlighted the importance of continued investment in restorative justice initiatives to create a more just and equitable criminal justice system. Unique Contribution to Theory, Practice and Policy: Labeling theory, Social Learning theory and Routine Activities theory may be used to anchor future studies on restorative justice programs in reducing recidivism rates. The study offered recommendations that contributed to theoretical advancements, practical improvements, and policy developments in the field. It emphasized the importance of exploring underlying mechanisms, standardized training for practitioners, and integration of restorative principles into mainstream criminal justice policies. These recommendations were aimed at enhancing the effectiveness and sustainability of restorative justice interventions in promoting positive outcomes for victims, offenders, and communities.

Callicebus oenanthe (Primates: Pitheciidae)

Abstract Callicebus oenanthe Thomas, 1924, commonly known as the San Martín Titi Monkey, is endemic to the northern portion of the department of San Martin, in the Alto Mayo and Huallaga river valleys. It lives in family groups, consisting of a monogamous pair and their offspring. It occurs at elevations between 200 and 1,000 m. Callicebus oenanthe feeds primarily on fruit, but includes other foods like leaves, flowers, and invertebrates in its diet. Although locally common, the species is listed as “Critically Endangered” (CR) both by the International Union for Conservation of Nature and under Peruvian legislation.

Sowing “seeds of trust”: How trust in normothermic regional perfusion is built in a continuum of care

Normothermic regional perfusion (NRP) is a promising technology to improve organ transplantation outcomes by reversing ischemic injury caused by controlled donation after circulatory determination of death. However, it has not yet been implemented in Canada due to ethical questions. These issues must be resolved to preserve public trust in organ donation and transplantation. This qualitative, constructivist grounded theory study sought to understand how those most impacted by NRP perceived the ethical implications. We interviewed 29 participants across stakeholder groups of donor families, organ recipients, donation and transplantation system leaders, and care providers. The interview protocol included a short presentation about the purpose of NRP and procedures in abdomen versus chest and abdomen NRP, followed by questions probing potential violations of the dead donor rule and concerns regarding brain reperfusion. The results present a grounded theory placing NRP within a trust-building continuum of care for the donor, their family, and organ recipients. Stakeholders consistently described both forms of NRP as an ethical intervention, but their rationales were predicated on assumptions that neurologic criteria for death had been met following circulatory death determination. Empirical validation of these assumptions will help ground the implementation of NRP in a trust-preserving way.

Exertional heat stress promotes the presence of bacterial DNA in plasma: A counterbalanced randomised controlled trial

ObjectivesThe primary aim was to explore the impact of exertional-heat stress (EHS) promoted exercise-associated bacteraemia. A secondary aim was to examine if an amino acid beverage (AAB) intervention may mitigate exercise-associated bacteraemia. DesignCounterbalanced randomised control trial. MethodsTwenty endurance trained male participants completed two randomised EHS trials. On one occasion, participants consumed a 237 mL AAB twice daily for 7 days prior, immediately before and every 20 min during EHS (2 h running at 60 % V̇O2max in 35 °C). On the other occasion, a water volume control (CON) equivalent was consumed. Whole blood samples were collected pre- and immediately post-EHS, and were analysed for plasma DNA concentration by fluorometer quantification after microbial extraction, and bacterial relative abundance by next generation 16s rRNA gene sequencing. ResultsIncreased concentration of microbial DNA in plasma pre- to post-EHS was observed on CON (pre-EHS 0.014 ng/μL, post-EHS 0.039 ng/μL) (p < 0.001) and AAB (pre-EHS 0.015 ng/μL, post-EHS 0.031 ng/μL) (p < 0.001). The magnitude of change from pre- to post-exercise on AAB was 40 % lower, but no significant difference was observed versus CON (p = 0.455). Predominant bacterial groups identified included: phyla-Proteobacteria (88.0 %), family-Burkholderiaceae (59.1 %), and genus-Curvibacter (58.6 %). No significant variation in absolute and relative change in α-diversity and relative abundance for phyla, family, and genus bacterial groups was observed in AAB versus CON. ConclusionsThe increased presence of microbial-bacterial DNA in systemic circulation in response to EHS appears positive in all participants. An amino acid beverage supplementation period prior to and consumption during EHS did not provide significant attenuation of EHS-associated bacteraemia.

Xanthinuria in a familial group of Munchkin cats and an unrelated domestic shorthair cat.

Four confirmed cases of xanthinuria in cats, and one suspected case based on pedigree analysis, were identified. Clinical presentations varied and included haematuria, pollakiuria, dysuria, and urethral and ureteral obstruction. All cats had upper urinary tract uroliths. Diagnosis was obtained through infrared mass spectrometry of uroliths or urine. Clinical signs commenced at 3-8 months of age and reduced in all cats in the medium to long term after the introduction of a protein-restricted diet. Four cats were castrated males and one was a spayed female. Cases consisted of four Munchkin pedigree cats and one unrelated domestic shorthair cat. All four affected Munchkin pedigree cats were related, with three cases full siblings and the fourth case a half-sibling. No connection to the Munchkin pedigree could be established for the domestic shorthair cat. A candidate causative genetic variant (XDH p.A681V) proposed for this cat was excluded in the Munchkin family. All affected cats presented diagnostic challenges and routine urinalysis was insufficient to obtain a diagnosis. Cases of feline xanthinuria may be underdiagnosed due to situations where uroliths cannot be retrieved for analysis and there is an inability to make a diagnosis using crystal morphology alone on routine urinalysis. Metabolic screening of urine may provide an effective mechanism to confirm xanthinuria in suspected cases where uroliths are inaccessible or absent. In this case series, male cats were more common. Their anatomy may increase the risk of lower urinary tract signs and urethral obstruction developing secondary to xanthine urolithiasis. A protein-restricted diet appears to reduce clinical signs as part of long-term management. Four closely related Munchkin cats and one domestic shorthair cat were found with a suspected genetic disease causing high levels of xanthine in their urine. The case series looks at similarities and differences in their clinical signs, as well as difficulties experienced in obtaining a correct diagnosis. All cats had upper urinary tract stones and required metabolic testing of the stones or urine to diagnose. All cats were young when their clinical signs started and were on a high-protein diet. Four cats were desexed males and one was a desexed female. A genetic variant that may have caused the disease in the domestic shorthair cat was ruled out in the Munchkin family. Cases of high xanthine levels in feline urine may be underdiagnosed as the stones may not be accessed for testing. In this case series, male cats were more common. Their anatomy may increase the risk of lower urinary tract signs. A protein-restricted diet appears to reduce clinical signs as part of long-term management.

Using technology in family relationships lived apart

In the wake of war and displacement, families like Oksana’s and Anna’s have found solace and connection through the use of digital technology. This article explores the experiences of Oksana and Anna, a Ukrainian woman aged 51 and her 23-year-old daughter who currently live in Edinburgh, separated from Oksana’s husband (Anna’s father), extended family and friends due to the war in Ukraine. Through a narrative lens, Oksana shares her reliance on communication tools such as Telegram, WhatsApp, and Facetime to bridge the physical distance between loved ones. The family’s daily rituals, from shared dinners over video calls to collaborative board games, highlight the importance of maintaining familial bonds amidst adversity. Additionally, the article sheds light on the broader societal context, comparing the prevalence of digital communication practices in Ukraine versus Scotland. The narrative also touches upon the profound impact of technology on healthcare management, particularly in supporting Maria, Oksana’s daughter, who battles diabetes. Lastly, Anna reflects on the emotional complexities of maintaining family ties amidst war, emphasizing the significance of technology in preserving connection and providing a lifeline to loved ones in times of distress. Through stories about air raid alerts and family group chats, Anna underscores the resilience and adaptability of Ukrainian families facing adversity.

The nexus between the best interests of the child and detention of children in conflict with the law

The principle of the best interests of the child is a universally recognised norm of the Convention on the Rights of the Child (CRC). While there is no consensus on the definition of this principle, various soft law documents, academic literature, and judgments demonstrate its centrality in both private and public spheres. The Children Act of 2022 provides a detailed articulation of this principle, facilitating its application in the Kenyan context. This paper examines the Kenyan and international legal and normative framework on the detention of children in the child justice system. It explores the nexus between the detention of children in conflict with the law and the principle of the best interests of the child. The authors contend that the detention of children in conflict with the law should be guided by the principle of the best interests of the child, as enshrined in Article 53(2) of the Constitution of Kenya, 2010 and international law. It reaffirms the position, adopted by courts of law, that there should be a limit to the institutionalisation of children in Kenya. The authors further advocate diversionary measures to judicial proceedings, such as family group conferencing, as suitable options.

Ocular manifestations of severe familial hypercholesterolemia

BackgroundTo study ocular manifestations of patients with severe familial hypercholesterolemia (FH). MethodsIn this population-based case-control study, patients suffering from severe familial hypercholesterolemia from the Lebanese Familial Hypercholesterolemia Registry, along with age and gender-matched healthy controls were recruited. All participants underwent a comprehensive eye examination, and patients underwent fluorescein angiography as well. Logistic regression models were used to identify any association between patients with severe familial hypercholesterolemia and abnormal eye findings, while adjusting for hypertension and pack-year smoking. The main outcome measure of this study was the development of ocular vascular abnormalities. Results28 patients and 28 controls were recruited. Patients with severe familial hypercholesterolemia had significantly greater odds of developing corneal arcus and xanthelasmas than the control group (p < 0.001). Retinal vascular abnormalities (plaques) were exclusively and more significantly present in patients with familial hypercholesterolemia (18 %). Similarly, retinal arteriosclerosis was exclusively and significantly more prevalent in the familial hypercholesterolemia group (p < 0.001, adjusted odds ratio 6.8). Stratification by LDL levels and genotypes did not show any significant change in the prevalence of any ocular finding. ConclusionIn addition to the well-established increase in incidence of corneal arcus and xanthelasmas, severe familial hypercholesterolemia patients have more prevalent retinal vascular abnormalities that include vascular plaques and arteriosclerosis.