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Psychiatric symptoms are typically highly inter-correlated at the group level. Collectively, these correlations define the architecture of psychopathology - informing taxonomic and mechanistic models in psychiatry. However, to date, it remains unclear if this architecture differs between etiologically distinct subgroups, despite the core relevance of this understanding for personalized medicine. Here, we introduce a new analytic pipeline to probe group differences in the psychopathology architecture - demonstrated through the comparison of two distinct neurogenetic disorders. We use a large questionnaire battery in 300 individuals aged 5-25 years (  = 102 XXY/KS,  = 64 XYY,  = 134 age-matched XY) to characterize the structure of correlations among 53 diverse measures of psychopathology in XXY/KS and XYY syndrome - enabling us to compare the effects of X- versus Y-chromosome dosage on the architecture of psychopathology at multiple, distinctly informative levels. Behavior correlation matrices describe the architecture of psychopathology in each syndrome. A comparison of matrix rows reveals that social problems and externalizing symptoms are most differentially coupled to other aspects of psychopathology in XXY/KS versus XYY. Clustering the difference between matrices captures coordinated group differences in pairwise coupling between measures of psychopathology: XXY/KS shows greater coherence among externalizing, internalizing, and autism-related features, while XYY syndrome shows greater coherence in dissociality and early neurodevelopmental impairment. These methods offer new insights into X- and Y-chromosome dosage effects on behavior, and our shared code can now be applied to other clinical groups of interest - helping to hone mechanistic models and inform the tailoring of care.

Mulibrey-Nanism (Muscle-liver-brain-eye Nanism = dwarfism; MUL) is a rare genetic syndrome caused by TRIM37 gene variants characterized by growth failure, dysmorphic features and congestive heart failure. We report a 6-year-old boy with Mulibrey nanism and Jacobs syndrome who was referred to us on suspicion of some genetic syndrome. This case marks the first documented instance in India of the co-occurrence of Mulibrey nanism and Jacobs syndrome, adding significant insights into the genetic diversity and clinical presentation of these conditions. The study highlights the importance of various genetic tests to diagnose rare genetic syndromes with overlapping phenotype.

Background: 47,XYY syndrome is a relatively common sex chromosome aneuploidy that remains largely underdiagnosed. While its somatic phenotype is often mild, growing evidence indicates a substantial burden of neurodevelopmental and psychiatric morbidity. However, the characterization of the neuropsychiatric phenotype across development, particularly during adolescence, and the associated treatment challenges remain incomplete. Objectives: To provide a comprehensive narrative review of the neuropsychiatric phenotype of 47,XYY syndrome and to illustrate clinical complexity and treatment response through a case series of adolescents. Methods: A narrative review of the literature was conducted focusing on genetics, neurodevelopmental and psychiatric features, neuroimaging and neurophysiology findings, clinical course, and management strategies in 47,XYY syndrome. This review is complemented by a case series of adolescents with confirmed 47,XYY karyotype, evaluated for developmental history, psychiatric comorbidity and response to pharmacological and non-pharmacological interventions. Results: The literature consistently describes increased risks of language impairment, executive dysfunction, ADHD, autism spectrum traits, and emotional and behavioral dysregulation in males with 47,XYY syndrome. Psychiatric vulnerability appears to increase during adolescence and adulthood, with elevated rates of mood, psychotic, and substance use disorders. The presented cases illustrate a convergent clinical trajectory marked by early developmental delays, progressive behavioral dysregulation in adolescence and limited or inconsistent response to multiple classes of psychotropic medications, suggesting a pattern of pharmacoresistance in a subset of patients. Conclusions: 47,XYY syndrome is associated with a distinct and heterogeneous neuropsychiatric phenotype that extends beyond early neurodevelopmental disorders. Early diagnosis alone may be insufficient to prevent severe psychiatric outcomes, highlighting the need for long-term monitoring and integrated, multidisciplinary management. Further research is required to identify early predictors of high-risk trajectories and to optimize treatment strategies for this population.

Key Clinical Message Jacobs syndrome and congenital adrenal hyperplasia are separate entities but share common clinical features such as ambiguous genitalia. Further studies are needed to conclude the relationship between Jacobs syndrome and congenital adrenal hyperplasia. A 5‐month‐old male infant was evaluated for ambiguous genitalia. Examination revealed cryptorchidism, inguinal hernia, long phallus, and Grade 3 scrotal hypospadias. Serum 17‐OH progesterone was high and chromosomal analysis showed 47XYY/45XO. A diagnosis of Jacobs and CAH was made. The parents were counseled about the patient's condition. He was given hydrocortisone and referred to the pediatric surgeon for further management.

Jacob's syndrome, or XYY syndrome, is caused by the presence of an extra Y chromosome in each male human cell. Although this extra Y chromosome makes these people taller than the average, they do not show any other unusual physical characteristics. Until now, very few studies have specifically examined the hearing abnormalities of individuals with this syndrome. A four‐year‐old boy with Jacob's syndrome was referred for an auditory assessment due to speech delay. The test battery results revealed a conductive hearing loss bilaterally based on existing air–bone gaps in pure‐tone audiometry, absence of distortion product otoacoustic emissions, and stapedial reflexes. Furthermore, the auditory brainstem responses confirmed a conductive hearing loss, as the interwave interval between waves one, three, and five was normal. Still, the absolute latency of all waves was delayed. These results were consistent with the CT (Computed Tomography) scan images demonstrating stapes footplate fixation. The audiological and imaging findings were supportive of stapes fixation; however, they were not sufficient to establish a definitive etiological diagnosis. Bilateral stapes fixation was suspected in a young boy with Jacob's syndrome. Behavioral, physiological, and electrophysiological hearing assessments indicated mild bilateral conductive hearing loss, with findings that were consistent with and supported by medical imaging. Although the exact etiology of the stapes fixation could not be determined, both congenital and acquired causes were considered. Incorporating comprehensive audiological and otological evaluations into the routine follow‐up of children with Jacob's syndrome may facilitate early identification of hearing impairment, particularly during critical periods of speech and language development. Summary Early audiological and otological assessment is essential in children with Jacob's syndrome. This case highlights the importance of evaluating conductive hearing loss in syndromic patients, including consideration of stapes fixation as a potential etiology. Early identification of hearing impairment ensures timely management and supports optimal speech and language development outcomes. Bilateral mild‐to‐moderate hearing loss identified in a child with Jacob’s syndrome (47,XYY). This case highlights the importance of early audiological assessment in children with chromosomal abnormalities to facilitate timely intervention and optimize developmental outcomes.

Background Rapid Whole Genome Sequencing (rWGS) is increasingly being used in neonatal intensive care units, as there is growing evidence that rare singe gene disorders present in the neonatal period and early identification can change management. While the diagnostic utility is increased with this broad testing, the possibility of unexpected findings also increases significantly. Here, we present a patient found to have three distinct genetic conditions through rWGS testing, with significant psychosocial and health consequences. Methods and Results This case report describes a patient who was identified with a form of chondrodysplasia punctata, as well as incidental findings of MECP2‐related disorder and Jacobs' syndrome. To our knowledge, this is one of the first documented cases of triple genetic diagnoses in the literature, underscoring the expanding clinical utility of rWGS. Conclusion Our patient represents a unique example of the utility of rWGS in the NICU setting. As two of the three conditions were unexpected results, his case is an important reminder of the possibility of unexpected findings for both providers and families. His case demonstrates the importance of pretest counseling and consenting processes, particularly in an acute setting. It also will add to our understanding of MECP2 variant presentations in males in the future. Neonate was found to have X‐linked chondrodysplasia punctata, MECP2‐related disorder, and mosaic Jacobs syndrome, highlighting the utility of advanced genetic testing in directing neonatal care and the complexity of managing multiple genetic diagnoses, while also adding to our understanding of the MECP2‐related disorder phenotypes in boys.

The purpose of this essay is to locate the making of social spaces as a particularly salient approach for understanding sustainability. Castells' spaces of places and spaces of flows are interpreted generically and a new social theory, Jacobs' moral syndromes, is introduced to underpin the production of these two spatial forms: commercial agents through their network practices make spaces of flows; guardian agents through their territorial practices make spaces of places. Both spaces are considered to be the outcome of city-work. A new division of labour is devised: four primary types of city-work are identified: hinter-work, net-work, territorial-work and hierarch-work. These ideas are considered as tools for thinking about developing spatial policies for sustainability. In conclusion, Jacobs' theory is used to discuss what the general strategy has to be for tackling sustainability.

Metabolism disorders have been seen in multiple autoimmune diseases, including SLE and Sjogren’s disease. The current studies were designed to evaluate mutations in genes involved in metabolism in a cohort of patients with Sjogren’s disease, diagnosed from clinical criteria and the presence of antibodies to salivary gland antigens. Patients were from an Immunology clinic that follows a large population of patients with autoimmune and metabolic disorders. The patients included in these studies were patients who met the criteria for Sjogren’s disease and for whom we were able to obtain genetic studies, sequencing of the mitochondrial DNA, and whole exome sequencing. There were 194 of these patients, and 192 had mutations in one or more gene involved in metabolism: 188 patients had mutations in mitochondrial respiratory chain genes, 17 patients had mutations in mitochondrial tRNA genes, 10 patients had mutations in mitochondrial DLOOP regions, 6 patients had mutations involved in carnitine transport, 6 patients had mutations in genes causing mitochondrial depletion, and 7 patients had glycogen storage diseases. In all cases, the treatment of the metabolic disorder led to symptomatic improvement in energy, exercise tolerance, gastrointestinal dysmotility, and the management of infections. In conclusion, metabolic disorders are common in patients with Sjogren’s disease and may be one of the factors leading to the initiation of the disease. The treatment of patients with Sjogren’s disease should include the treatment of the underlying/associated metabolic disorder.

The study employed a comprehensive graphical presentation and statistical analysis using data from 2017 to 2023 to assess how different dimensions of foreign aid impact the HIV/AIDS prevalence rate in South Africa. The finding suggests that as the proportion of foreign aid increases, HIV/AIDs prevalence tends to decrease. Consequently, result of funding for treatment has correlation (r = -0.657). This moderate negative association reinforces the traditional belief that investments in direct treatment are effective in reducing disease prevalence. The relationship between funding allocated to education reveals a notable positive correlation (г = 0.33) with HIV prevalence. Against this backdrop, the policymakers in South Africa should prioritize allocating resources to quality programs that have robust passthrough effects on HIV/AIDs reduction in the country. Also, given the current termination of about 40 USAID funded projects in South Africa, if the policymakers in South Africa desire to prevent further escalation of HIV prevalence in the country, they should explore substantive internal sources of fundings. (Afr J Reprod Health 2025; 29 [12]: 42-50).

•We analyzed a retrospective cohort from 2016of in-hospital discharges of patients with CJD using the Healthcare Cost and Utilization Project.•We also described a rapidly-progressive case of an individual with CJD whose time from symptom onset to death spanned less than two months.•The CJD data from 2016 is found to be equally distributed among individuals in the US by categories of sex, race/ethnicity, geography, and income.•91.5 % of CJD cases are discharged to extended-care facilities following initial hospitalizations. This report highlights a rapidly progressive case of Creutzfeldt-Jakob Disease (CJD) whose time from symptom onset to death spanned less than two months. We also explore the most recently available in-patient demographics data for discharges with CJD in the United States. We reviewed a CJD case and systematically analyzed a retrospective cohort of CJD discharges using the Healthcare Cost and Utilization Project (HCUP) to evaluate the existing national data on the status of CJD demographics and dispositions in the United States in 2016. An estimated total of 710 hospital discharges with a diagnosis of CJD were seen across the United States in 2016. According to HCUP, the average age of patients was 66.15 ± 11.54 years with 48.6 % female. Average time to intubation from admission to hospital was 4.71 ± 7.32 days with a rate of intubation of 6.34 %. The mean hospital cost was $19,901.25 ± $18,743.48. The rate of in-hospital mortality was 8.45 %. No significant geographical differences were noted (p = 0.49). No significant differences were seen among incidence in specific ethnic groups (p = 0.33) or income quartiles (p = 0.90). Our data shows that the incidence of CJD in 2016 appears to be equally distributed among individuals in the United States by demographic categories. Additionally, our case-study from 2019 illustrates an important example for diagnosing a rapidly-progressing case of CJD.