Age Of Symptom Onset Research Articles

P20.03.A PREDICTING THE CLINICAL PHENOTYPE INNF2 RELATED SCHWANNOMATOSIS PATIENTS USING NEW GENETIC SCORES

Abstract BACKGROUND NF2 related Schwannomatosis (NF2 -SCHW MIM # 101000) is a rare autosomal dominant familial cancer syndromes caused by mutations in the NF2 gene, mainly due to NF2 point mutations or intragenic deletions. NF2 patients. In 95% of patients, bilateral vestibular schwannomas are present, but NF2 -SCHW patients can develop other tumors and show ophthalmic and dermatological signs. Several studies established a genotype-phenotype correlations; the UK NF2 Reference Group proposed a Genetic Severity Score (GSS) based on the type and location of NF2 germline variant observed. Catasus et al. after validation of the score in a Spanish cohort suggested a new score based also on a functional assay of Merlin and its downstream pathways (FGSS). Recently Teranish et al. used targeted deep sequencing to predict functional prognosis in those patients. MATERIAL AND methods 70 patients (median age 40) were identified by scanning the electronic NF2-SCHW patient database at Fondazione IRCCS C. Besta, where the patients had undergone full neurological, ophthalmic, and audiological assessment. The median follow-up was 14 yrs. Clinical diagnosis was established following the Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis”. All patients underwent NF2, SMARCB1 and LZTR1 mutational screening by NGS and MPLA analysis using blood DNA or the tissue of two different tumors when available.NF2 gene germline pathogenic were found in 45 subjects (64%), in most cases NF2 point mutations, but in 4 cases and whole gene deletions was observed and in 2 a ring NF2 chromosome was identified, in four cases a mosaic NF2-SCH was identified and in 21 (30%) patients no pathogenic variant was found. We assessed NF2-SCHW clinical phenotype in relation to the UK GSS and FGSS to validate their use as clinical and research tools, despite the significant phenotypic variability observed. RESULTS The disease outcome differed significantly depending both on clinicaland genetic factors. Among these factors,” Age of symptom onset” “Truncating”, “Mosaic”, and “whole gene deletion” had the most significant effects on functional disability. Conclusion GSS and FGSS showed significant correlation with several measures, allowing stratification of patients with severe and mild disease but not with moderate phenotype. Furthermore, we provided evidence on correlation between whole NF2 deletion extent and phenotype severity. Large cohorts of NF2-SCHW patients are needed to identify more accurate scores, becoming useful tools for patient management.

Hidradenitis suppurativa tarda: defining an understudied elderly population.

Hidradenitis suppurativa (HS) is a chronic, devastating, multifactorial skin disease. Patients generally develop HS after puberty and the prevalence of the disease is assumed to decrease with higher age. Data outside the usual age range are limited, especially for elderly patients. To investigate the prevalence, clinical characteristics and associated comorbidities among the elderly HS population. Data were collected through a population-wide survey-based study within the Lifelines Cohort Study in the Netherlands. The clinical characteristics of elderly patients with HS (≥ 60 years) were compared with an adult population (< 60 years) with HS. The comorbidities in elderly patients with HS were compared with those of a non-HS sex- and age-matched elderly population in a 1 : 4 ratio. HS in the elderly was defined as active HS in patients aged 60 years and older. Within the HS elderly group, two subgroups were defined, late-onset HS (HS developed after 60 years of age) and persistent HS (HS developed from a younger age but continuing after 60 years of age). Within the Lifelines cohort 209 elderly patients with HS were identified as well as an adult (< 60 years) group with HS (n = 793) and a non-HS sex- and age-matched control elderly group (n = 810). The prevalence of HS among the elderly bootstrap analysis population was 0.8% [95% confidence interval (CI) 0.4-1.2]. A significantly higher age of HS symptom onset was found compared with the adult HS group: respectively, 40 vs. 23 years (odds ratio 1.056, 95% CI 1.05-1.07). Among the elderly HS cohort (in the Discussion, the HS tarda cohort) a female : male ratio of 1.7 : 1.0 and a higher family history for HS were found. Moreover, elderly patients with HS had a significantly higher risk of having HS-associated comorbidities compared with the sex- and age-matched controls. The prevalence of HS in the elderly is not rare. Among the elderly a shift from female predominance towards a lower female: male ratio in HS is observed. In addition, HS in the elderly showed significant variation in age of onset and involved body areas. Moreover, elderly patients with HS were more susceptible to multimorbidity. Finally, we propose defining HS in the elderly as 'HS tarda' and subdividing it as late-onset and persistent HS tarda.

Adult-onset Alexander disease among patients of Jewish Syrian descent.

Alexander disease (AxD) is a rare autosomal dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acid protein (GFAP) gene. The age of symptoms onset ranges from infancy to adulthood, with variable clinical and radiological manifestations. Adult-onset AxD manifests as a chronic and progressive condition, characterized by bulbar, motor, cerebellar, and other clinical signs and symptoms. Neuroradiological findings typically involve the brainstem and cervical spinal cord. Adult-onset AxD has been described in diverse populations but is rare in Israel. We present a series of patients diagnosed with adult-onset AxD from three families, all of Jewish Syrian descent. Five patients (4 females) were diagnosed with adult-onset AxD due to the heterozygous mutationc.219G > A, p.Met73Ile in GFAP. Age at symptoms onset ranged from 48 to 61 years. Clinical characteristics were typical and involved progressive bulbar and gait disturbance, followed by pyramidal and cerebellar impairment, dysautonomia, and cognitive decline. Imaging findings included medullary and cervical spinal atrophy and mostly infratentorial white matter hyperintensities. A newly recognized cluster of adult-onset AxD in Jews of Syrian origin is presented. This disorder should be considered in differential diagnosis in appropriate circumstances. Genetic counselling for family members is required in order to discuss options for future family planning.

Everyday executive functioning in pediatric obsessive-compulsive disorder: diagnostic specificity, clinical correlations, and outcome

BackgroundObsessive-compulsive disorder (OCD) typically onsets during childhood or adolescence and difficulties with executive functioning (EF) may be involved in its onset and maintenance. Yet, few studies have examined everyday EF difficulties in youth with OCD and no study has compared EF in youth with OCD to EF in youth with anxiety disorders, leaving the diagnostic specificity of EF unclear.MethodsIn this study, parents of treatment-seeking children and adolescents with OCD (n = 96, Mage = 13.3, SD = 2.7, 59% girls) or anxiety disorders (n = 67, Mage = 14.0, SD = 2.6, 78% girls) reported on their children’s everyday EF using the Behavior Rating Inventory of Executive Function (BRIEF) measure.ResultsCompared to community youth, the two clinical groups showed moderately elevated EF deficits but did not differ significantly from each other. EF deficits were not associated with the major symptom dimensions of OCD, age of OCD symptom onset, duration of OCD symptoms, and OCD severity, and did not predict treatment outcome in OCD.ConclusionsCompared to peers, youth with OCD show moderate difficulties with EF, but very similar difficulties are seen in youth with anxiety disorders, and it is unclear whether these difficulties are of clinical relevance. Among youth with OCD, EF difficulties were not differentially associated with the major symptom dimensions of OCD, which is inconsistent with findings from adults. Difficulties with EF did not predict treatment outcome, indicating that integrating EF modules into OCD treatment may be of limited value, although EF may be important for treatment planning in individual cases.

Risk of flare in juvenile idiopathic arthritis: Is it related to the methotrexate treatment strategy or patient characteristics?

The study aimed to determine the factors that increase the risk of disease flare in patients with juvenile idiopathic arthritis who stopped methotrexate (MTX) monotherapy following inactive disease (ID). In the retrospective study, files of all juvenile idiopathic arthritis cases between April 1992 and June 2022 were examined. Patients who stopped MTX monotherapy following ID were evaluated. Patients with disease flare and persistent ID were compared. Juvenile idiopathic arthritis subgroup, age of symptom onset, autoantibodies, acute phase reactants, MTX method of use, and withdrawal strategy were recorded. Systemic juvenile idiopathic arthritis patients were excluded from the study due to different clinical symptoms, diagnosis, and treatment methods. Files of 1,036 patients were evaluated, and 107 patients (88 females, 19 males; mean age: 5.9±4.2 years; range, 0.8-16.5 years) were included in the study. The median age at symptom onset was 4.8 (interquartile range [IQR]: 2-7.6) years. In terms of juvenile idiopathic arthritis subgroups, 52 (48.6%) had oligoarticular juvenile idiopathic arthritis, 43 (40.2%) had polyarticular juvenile idiopathic arthritis, and 12 (11.2%) had juvenile psoriatic arthritis. The patients reached ID in nine (IQR: 4.8-17.7) months after starting MTX, and MTX treatment was discontinued after one (IQR: 0.7-1.3) year following ID. The disease flare developed in 59 (55%) of the cases. The ID continued in 48 (45%) patients. In multivariate analysis, the risk of flare was associated with younger symptom onset (odds ratio [OR]=2.2, p=0.006), antinuclear antibody positivity (OR=1.6, p=0.03), higher erythrocyte sedimentation rate (OR=1.01, p=0.04), and C-reactive protein (OR=1, p=0.02) at the MTX onset. No difference was observed between the two groups regarding MTX dose, route of administration, prior and concomitant treatments, time to reach ID, and time and method of MTX discontinuation. In this study, the risk of flare was associated with patient's characteristics, rather than the administration and discontinuation method of MTX.

Safety of Intravenous Immunoglobulin Replacement Therapy in a Group of Patients with Primary Immune Deficiency

Background Intravenous immunoglobulin (IVIG) has been used as antibody replacement therapy in primary immunodeficiency diseases for more than 50 years. Most routinely, IVIG is used in patients with predominantly antibody deficiency and combined immunodeficiency. Aim To evaluate the safety of regular intravenous immunoglobulin (IVIG) among patients with primary immunodeficiency diseases who receive IVIG as a replacement treatment. Methods Our study included 40 patients with primary immunodeficiency following up regularly in the Pediatric Allergy and Immunology Unit, Children’s Hospital, Ain Shams University, These patients were followed up for one year in order to evaluate the incidence of occurrence of adverse reactions among the patients who received IVIG monthly, Once patients with adverse reactions have been identified, the following data were taken and reviewed : a specific type of adverse reaction to IVIG; the time interval between onset of adverse reaction and beginning of IVIG infusion; IVIG preparation, dose and infusion rate; medical management done during side effects . Statistics were used to analyze and interpret the data. Results This study included 40 PID patients. They were 31 males (77.5%) and 9 females 22.5% with a male to female ratio of 3.4:1. At time of enrolment in the study, the median age was 73.5 months (14 – 218 months). In our studied population the median age of symptoms onset was 23 months (1 – 187 months), and age at diagnosis was 25 months (2-192 months). This made the diagnostic lag to have a median of 9 months (0-56 months). From our studied population only one patient (2.5%) out of the study groups developed anaphylaxis and was shifted to another brand. Conclusion IVIG is a safe drug for patients with primary antibody deficiency with minimal reported side effects.

Effect of apolipoprotein genotype and educational attainment on cognitive function in autosomal dominant Alzheimer’s disease

Autosomal dominant Alzheimer’s disease (ADAD) is genetically determined, but variability in age of symptom onset suggests additional factors may influence cognitive trajectories. Although apolipoprotein E (APOE) genotype and educational attainment both influence dementia onset in sporadic AD, evidence for these effects in ADAD is limited. To investigate the effects of APOE and educational attainment on age-related cognitive trajectories in ADAD, we analyzed data from 675 Presenilin-1 E280A mutation carriers and 594 non-carriers. Here we show that age-related cognitive decline is accelerated in ADAD mutation carriers who also have an APOE e4 allele compared to those who do not and delayed in mutation carriers who also have an APOE e2 allele compared to those who do not. Educational attainment is protective and moderates the effect of APOE on cognition. Despite ADAD mutation carriers being genetically determined to develop dementia, age-related cognitive decline may be influenced by other genetic and environmental factors.

Increased Actin Binding Is a Shared Molecular Consequence of Numerous SCA5 Mutations in β-III-Spectrin.

Spinocerebellar ataxia type 5 (SCA5) is a neurodegenerative disease caused by mutations in the SPTBN2 gene encoding the cytoskeletal protein β-III-spectrin. Previously, we demonstrated that a L253P missense mutation, localizing to the β-III-spectrin actin-binding domain (ABD), causes increased actin-binding affinity. Here we investigate the molecular consequences of nine additional ABD-localized, SCA5 missense mutations: V58M, K61E, T62I, K65E, F160C, D255G, T271I, Y272H, and H278R. We show that all of the mutations, similar to L253P, are positioned at or near the interface of the two calponin homology subdomains (CH1 and CH2) comprising the ABD. Using biochemical and biophysical approaches, we demonstrate that the mutant ABD proteins can attain a well-folded state. However, thermal denaturation studies show that all nine mutations are destabilizing, suggesting a structural disruption at the CH1-CH2 interface. Importantly, all nine mutations cause increased actin binding. The mutant actin-binding affinities vary greatly, and none of the nine mutations increase actin-binding affinity as much as L253P. ABD mutations causing high-affinity actin binding, with the notable exception of L253P, appear to be associated with an early age of symptom onset. Altogether, the data indicate that increased actin-binding affinity is a shared molecular consequence of numerous SCA5 mutations, which has important therapeutic implications.

Retrospective Evaluation of Neuropathologic Proxies of the Minimal Atrophy Subtype Compared With Corticolimbic Alzheimer Disease Subtypes.

Alzheimer disease (AD) is neuropathologically classified into 3 corticolimbic subtypes based on the neurofibrillary tangle distribution throughout the hippocampus and association cortices: limbic predominant, typical, and hippocampal sparing. In vivo, a fourth subtype, dubbed "minimal atrophy," was identified using structural MRI. The objective of this study was to identify a neuropathologic proxy for the neuroimaging-defined minimal atrophy subtype. We applied 2 strategies in the Florida Autopsied Multi-Ethnic (FLAME) cohort to evaluate a neuropathologic proxy for the minimal atrophy subtype. In the first strategy, we selected AD cases with a Braak tangle stage IV (Braak IV) because of the relative paucity of neocortical tangle involvement compared with Braak >IV. Braak IV cases were compared with the 3 AD subtypes. In the alternative strategy, typical AD was stratified by brain weight and cases having a relatively high brain weight (>75th percentile) were defined as minimal atrophy. Braak IV cases (n = 37) differed from AD subtypes (limbic predominant [n = 174], typical [n = 986], and hippocampal sparing [n = 187] AD) in having the least years of education (median 12 years, group-wise p < 0.001) and the highest brain weight (median 1,140 g, p = 0.002). Braak IV cases most resembled the limbic predominant cases owing to their high proportion of APOE ε4 carriers (75%, p < 0.001), an amnestic syndrome (100%, p < 0.001), as well as older age of cognitive symptom onset and death (median 79 and 85 years, respectively, p < 0.001). Only 5% of Braak IV cases had amygdala-predominant Lewy bodies (the lowest frequency observed, p = 0.017), whereas 32% had coexisting pathology of Lewy body disease, which was greater than the other subtypes (p = 0.005). Nearly half (47%) of the Braak IV samples had coexisting limbic predominant age-related TAR DNA-binding protein 43 encephalopathy neuropathologic change. Cases with a high brain weight (n = 201) were less likely to have amygdala-predominant Lewy bodies (14%, p = 0.006) and most likely to have Lewy body disease (31%, p = 0.042) compared with those with middle (n = 455) and low (n = 203) brain weight. The frequency of Lewy body disease was increased in both neuropathologic proxies of the minimal atrophy subtype. We hypothesize that Lewy body disease may underlie cognitive decline observed in minimal atrophy cases.

Glossopharyngeal and vagoglossopharyngeal neuralgia: Long-term surgical outcomes in a single institution.

Glossopharyngeal neuralgia (GPN) and vagoglossopharyngeal neuralgia (VGPN) are infrequent syndromes that can have great negative impact on a patient's quality of life. The objective of this study is to describe the characteristics and long-term results of patients with GPN-VGPN who are treated surgically with microvascular decompression (MVD) in one institution. This is a retrospective series of 20 patients with the diagnosis of GPN-VGPN who underwent MVD. Demographic characteristics, surgical results, complications, and long-term follow-up were analyzed. The mean age of symptom onset was 51.25 years and the majority of patients were women (60%). The posterior inferior cerebellar artery was the main offending vessel (75%). The immediate MVD success rate was 100%, but during follow-up, two patients (10%) were diagnosed with VGPN and both cases presented pain recurrence. The mean follow-up was 120.4 (25-333) months. VGPN (P = 0.005) and a ≥5 day hospital stay (P = 0.032) were associated with unsuccessful outcomes. Two complications were documented, which resolved without sequelae. There was no surgical mortality. MVD is an effective and safe treatment for long-term pain relief of GPN-VGPN. VGPN and a prolonged hospital stay were associated with poor outcomes. More studies are required to confirm these findings.

Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan.

To study the biochemical, clinical and molecular characteristics of 5,10- methylenetetrahydrofolate reductase (MTHFR) deficiency in Pakistani patients from a single center. Medical charts, urine organic acid chromatograms, plasma methionine and Hcys levels, and molecular testing results of MTHFR gene of patients presenting at the Biochemical Genetics Clinic, AKUH from 2016 to 2022 were reviewed. Neonatal MTHFR deficiency was found in five patients. The median (IQR) age of symptom onset and diagnosis were 18 (8.5-22) and 26 (16.5-31) days. The median lag between symptom onset and diagnosis was 8 (4.5-12.5) days. The median age of treatment initiation and duration of treatment were 26 (16.5-49) and 32 (25.5-54) days. The most common clinical features were lethargy, poor feeding, and seizures. The MTHFR gene sequencing revealed homozygous variants p.K510K, p.R567*, and p.R157W. Renal insufficiency manifesting as elevated serum creatinine and responding to betaine therapy was noted in one patient. This has not been previously reported in neonatal MTHFR deficiency and may reflect engagement of alternate pathways of remethylation. Adult onset MTHFR deficiency was found in six patients, with a heterogeneous neurological presentation. The median lag between symptoms onset and diagnosis was 7 (3-11) years. MTHFR gene sequencing revealed homozygous variant p.A195V in five patients from one family and p.G261V in the other. Two of the five reported variants are novel that include p.R157W and p.G261V. Eleven patients of this rare disorder from a single center indicate the need for clinical awareness and appropriate biochemical evaluation to ensure optimal outcomes.

Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019.

GM1 gangliosidosis is a rare lysosomal storage disorder associated with β-galactosidase enzyme deficiency. There are three types of GM1 gangliosidosis based on age of symptom onset, which correlate with disease severity. In 2019, we performed a retrospective multicentric study including all patients diagnosed with GM1 gangliosidosis in France since 1998. We had access to data for 61 of the 88 patients diagnosed between 1998 and 2019. There were 41 patients with type 1 (symptom onset ≤6 months), 11 with type 2a (symptom onset from 7 months to 2 years), 5 with type 2b (symptom onset from 2 to 3 years), and 4 with type 3 (symptom onset >3 years). The estimated incidence in France was 1/210,000. In patients with type 1, the first symptoms were hypotonia (26/41, 63%), dyspnea (7/41, 17%), and nystagmus (6/41, 15%), whereas in patients with type 2a these were psychomotor regression (9/11, 82%) and seizures (3/11, 27%). In types 2b and 3, the initial symptoms were mild, such as speech difficulties, school difficulties, and progressive psychomotor regression. Hypotonia was observed in all patients, except type 3. The mean overall survival was 23 months (95% confidence interval [CI]: 7, 39) for type 1 and 9.1 years (95% CI: 4.5, 13.5) for type 2a. To the best of our knowledge, this is one of the largest historical cohorts reported, which provides important information on the evolution of all types of GM1 gangliosidosis. These data could be used as a historical cohort in studies assessing potential therapies for this rare genetic disease. This article is protected by copyright. All rights reserved.

Pregnancy, parturition and postpartum considerations among patients with vulvar lichen sclerosus: A retrospective cross-sectional online survey.

Characterise VLS and obstetric considerations among women during pregnancy, parturition and postpartum. Retrospective cross-sectional online survey, 2022. International, English-speakers. Self-identified individuals aged 18-50 diagnosed with VLS with symptom onset prior to pregnancy. Participants recruited from social media support groups and accounts, completed a 47-question survey including yes/no, multiple answer, and free-text responses. Data were analysed with frequency, means and the Chi-square test. VLS symptom severity, mode of delivery, perineal laceration, source and sufficiency of information provided about VLS and obstetrics, anxiety about delivery, and postpartum depression. Of 204 responses, 134 met inclusion criteria, encompassing 206 pregnancies. Mean respondent age was 35 years (SD 6) and mean age of VLS symptom onset, diagnosis and birth, was 22 (SD 8), 29 (SD 7) and 31 (SD 4) years, respectively. Symptoms decreased in 44% (n = 91) of pregnancies and increased during the postpartum period in 60% (n = 123). In all, 67% (n = 137) of pregnancies resulted in vaginal birth and 33% (n = 69) in caesarean birth. Anxiety for delivery due to VLS symptoms was reported by 50% (n = 103); 31% (n = 63) experienced postpartum depression. Of respondents previously diagnosed with VLS, 60% (n = 69) used topical steroids prior to pregnancy, 40% (n = 45) were treated during pregnancy and 65% (n = 75) postpartum. In all, 94% (n = 116) reported receiving an insufficient amount of information on the topic. In this online survey, we found reported symptom severity remained unchanged or decreased during pregnancy, but increased postpartum. Use of topical corticosteroids decreased during pregnancy compared with before and after pregnancy. Half of the respondents reported anxiety regarding VLS and delivery.

The association between weight during early life and multiple sclerosis onset in a nationwide Dutch birth year cohort

ABSTRACT Background The relationship between being overweight during early life and disease course in multiple sclerosis (MS) is unresolved. We investigated the association between being overweight or obese during early life (childhood and adolescence) and MS case status, age of first symptom onset and onset type in people with MS (pwMS) of the same birth year. Methods We enrolled 363 PwMS and 125 healthy controls (HC) from Project Y, a Dutch population-based cross-sectional cohort study including all PwMS born in 1966 and age and sex-matched HC. The associations between weight during childhood and adolescence (non-overweight vs. overweight or obese) and MS, age at symptom onset and onset type (relapsing vs. progressive) were assessed using logistic and linear regressions. In addition, sex-separated associations were explored. Results Being overweight or obese during childhood (OR = 2.82, 95% CI 1.17–6.80) and adolescence (OR = 2.45, 95% CI 1.13–5.34) was associated with developing MS. Furthermore, being overweight or obese during adolescence was associated with a younger age of onset (β = −0.11, p = 0.041). Of all 47 patients with a primary progressive (PP) onset type, only one patient (2.1%) was overweight or obese during childhood, whereas 45 patients with a relapsing remitting (RR) onset (14.3%) were overweight or obese during childhood (PP vs. RR p = 0.017; PP vs. HC p = 0.676; RR vs. HC, p = 0.015). However, using logistic regression analysis we did not find evidence of a significant association. Conclusion In a nationwide population-based birth year cohort, being overweight or obese during childhood or adolescence is associated with MS prevalence and an earlier age of onset, but does not seem to associate with the type of onset.

Quality of Life and Its Relative Factors Among Patients With Multiple Sclerosis: A Cross-sectional Study in Northwest Iran

Background: Multiple sclerosis (MS) is one of the critical diseases due to its adverse clinical, social, and economic consequences for affected people. This study aims to assess the quality of life (QoL) of patients with MS in East Azerbaijan, Iran. Methods: This cross-sectional study was conducted using the multiple sclerosis quality of life-54 (MSQoL-54) questionnaires to interview 300 randomly selected MS patients in East Azarbaijan Province, Iran. The independent t-test, analysis of variance (ANOVA), and Tukey post hoc test were used to examine the relationship between demographic variables, and QoL, and all analyses were performed using SPSS software, version 19. Results: The QoL score in MS patients is 48.22±22.48. The “life satisfaction” is the best and “physical role limitation” is the worst QoL aspect. Significant relationships were observed between marital status, education level, employment status, age of symptoms onset, and years of illness with QoL (P&lt;0.05). Conclusion: The QoL of the MS patients in East Azarbaijan Province is lower than in other parts of Iran and much lower than in Organization for Economic Co-operation and Development (OECD) countries.

PA33 Paediatric and adolescent hidradenitis suppurativa: a snapshot of a single centre’s experience

Abstract Hidradenitis suppurativa (HS) is a chronic inflammatory debilitating condition that primarily affects younger people. Its exact prevalence is unknown, but it is estimated to affect at least 1% of the Irish and UK population. Onset is late adolescence and the early 20s in the majority. The impact of early-onset HS (&amp;lt; 18 years) is increasingly recognized, but awareness and knowledge of disease prevalence and severity in Ireland remain sparse. Studies in adults highlight association with a raised body mass index (BMI) and smoking, in addition to an increased prevalence in young females with African American or mixed ancestry. Presently, there is an absence of specific guidelines for management in those aged &amp;lt; 18 years. With rising obesity levels, combined with decreasing pubertal age, we may encounter early-onset HS more often in future. We present a snapshot of patients with HS attending a single paediatric hospital who were considered for systemic therapy. Ten patients were included (eight females). Mean (SD) age of symptom onset was 12.4 (1.9) years, mean (SD) age of presentation was 14 (2.1) and mean duration of symptoms prior to presentation was 1.5 years. Nine received systemic therapy (nine antibiotics and four biologics). Disease severity, defined by Hurley stage, was mild in one, moderate in five and severe in four. All patients had achieved puberty, one was defined as early-onset (age 10 years) and another as precocious (age 9 years). The BMIs varied: one was normal, two were above a healthy weight, five were very overweight and three were severely overweight according to UK centiles. Most patients experienced comorbidities, including, but not limited to, Crohn disease (n = 1), hepatic steatosis (n = 2), pilonidal sinus (n = 3) and acne (n = 5). One had diabetes, two impaired fasting glucose and one hypercholesterolaemia. No patient reported smoking. Passive smoking and blood pressure were not documented. Four patients had positive family histories. Six patients identified as Black Irish (one Irish Caribbean and five Irish Nigerian), two were White Irish, one patient was from India and one was from Poland. We describe a group of individuals aged ≤ 16 years, the majority of whom had moderate–severe HS. They had similar comorbidities to internationally reported literature in early-onset HS. More skin of colour ethnicities are represented than seen in the general Irish population, which probably reflects both the catchment area and severity of the skin conditions experienced. The limitations of our study include under-representation of milder disease due to an inability to perform a full cross-sectional study at present. Further prospective studies are required to capture the prevalence and characteristics of HS fully in our population of children and young adults. Considering the lifetime impact of this condition, guidelines for the management of HS under the age of 18 years should be considered.

Risk Factors Related to Eating Disorders in a Romanian Children Population

(1) Background: The complex known as avoidant/restrictive food intake disorder (ARFID) is one of the eating disorders that cannot be explained by chronic disease. The aim of this study was to determine the characteristics of patients who were identified as being at risk of developing ARFID and referred to paediatricians, according to their age and duration of symptoms. (2) Methods: Children aged 2–10 years (Group 1) presenting with eating disorders were initially recruited in the “Dr. Victor Gomoiu” Clinical Children Hospital in Bucharest. Group 2 included patients presenting for routine paediatric visits as controls. The study population was given the PARDI questionnaire as well as questions related to demographics, screening growth and development, physical and mental background, and current feeding and eating patterns. Items were scored on a 7-point scale ranging from 0 to 6. (3) Results: A total of 98 individuals were divided equally into the two study groups. There was no difference in terms of sex, living area, mothers’ education level or living standards between the two groups. ARFID children were more likely to be underweight, were unsuccessful at weaning or have irregular feeding habits and a history of allergies. The mean age of onset for chronic symptoms was significantly lower than the onset of acute food refusal—4.24 ± 2.29 vs. 6.25 ± 3.65, p = 0.005. (4) Conclusions: feeding disorders are an important issue among paediatricians, and a proper awareness of them when treating these patients should be included in daily practice.

Clinical Profile of Congenital Factor XIII Deficiency in Children.

Congenital Factor 13 Deficiency (FXIIID) is a rare bleeding disorder (RBD) of autosomal recessive inheritance, with an incidence of 1 in 3-5million. The clinical symptomatology, diagnosis, and management of FXIIID are described. A retrospective chart review of children with FXIIID was performed from January 2000 through October 2021 at a tertiary care center in Southern India. The diagnosis was performed by the Urea clot solubility test (UCST) and Factor XIII antigen assay. Twenty children (representing 16 families) were included. Male: Female ratio was 1.5:1. The median age of symptom onset was 6 mo, and the median age of diagnosis was 1 y, demonstrating a delay in diagnosis. Consanguinity was present in 15 (75%) with 4 children having affected siblings. Clinical symptomatology ranged from mucosal bleeds to intracranial bleeds and hemarthrosis, with many children having a history of prolonged umbilical bleeding in their neonatal period. Fourteen children were on cryoprecipitate prophylaxis. Four children had breakthrough bleeds due to irregular prophylaxis, including one intracranial bleed due to a delay in cryoprecipitate prophylaxis during the covid pandemic. Congenital FXIIID presents with a wide range of bleeding manifestations. The high prevalence of consanguinity in Southern India can be a cause of FXIIID's high prevalence in this region. There is a propensity for intracranial bleeding with a significant number having this at first presentation. Regular prophylaxis is required and feasible to prevent potentially fatal bleeds.

Assessment of the first presentations of common variable immunodeficiency in a large cohort of patients

BackgroundCommon Variable Immunodeficiency (CVID) is a primary immunodeficiency syndrome resulting in recurrent infections, autoimmunity, and granulomatous manifestations.Methods and materialsThis retrospective study was conducted on an Iranian national registry of immunodeficient patients from 2010 to 2021. The frequency of first presentations of CVID and its association with sex, age of onset, and family history of CVID was evaluated.ResultsA total of 383 patients entered the study, 164 of whom were female, and the rest were male. The mean age of the patients was 25.3 ± 14.5 years. The most frequent first presentations of CVID were pneumonia (36.8%) and diarrhea (19.1%). Patient sex, age of onset, and family history did not make significant differences in first presentations of this disease.Conclusionpneumonia is the most common first presentation of CVID. Family history of CVID, the age of symptom onset, and sex made no differences in the first presentations of CVID.

Analysis of Educational Attainment in a Mexican Psychiatric Patient Population with Bipolar or Psychotic Disorders.

Schizophrenia has been associated with premorbid poor educational performance and low educational attainment (EA). However, some studies have found positive associations between psychotic disorders and excellent scholastic performance. In the present study, we examined the association between EA and several clinical and nonclinical characteristics in psychiatric patients diagnosed with psychotic or bipolar disorders. Data were obtained from the files of 1132 patients who entered a major Mexico City psychiatric hospital during the years 2009-2010 for the treatment of psychotic symptoms and who were subsequently diagnosed with schizophrenia, bipolar, schizoaffective, or another psychotic disorder. Chi-squared tests, t-tests, and Cox regression analysis were applied to explore associations between EA and factors including gender, familial history of mental illness, premorbid personality characteristics, age of symptom onset, diagnosis, civil status, and current employment. Family history of mental illness decreased the hazard of having lower EA (B = -0.137, p = 0.025, ExpB = 0.872, 95% CI = 0.774-0.983), while a schizophrenia diagnosis independently increased it (B = 0.201, p = 0.004, ExpB = 1.223, 95% CI = 1.068-1.401). In male patients (but not in females), family history of mental illness was significantly associated with higher EA, while in female patients, premorbid schizoid-like personality characteristics were associated with lower EA. For both genders, lower EA was associated with having more children and being employed in manual labor, while higher EA was associated with professional employment. Conclusions: Compared with bipolar disorder, a schizophrenia diagnosis is associated with lower EA; however, familial history of mental illness and premorbid schizoid-like characteristics independently favor higher and lower EA in males and females, respectively. Since lower EA is generally associated with a lower economic status, special preventative attention should be given to students at high risk for schizophrenia, particularly those displaying a schizoid-like personality.