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  • Brevundimonas vesicularis sepsis in a 2-month-old infant in rural Gambia: a case report | Journal of Medical Case Reports

    Brevundimonas vesicularis sepsis in a 2-month-old infant in rural Gambia: a case report | Journal of Medical Case Reports

    Brevundimonas vesicularis is a non-lactose fermenter, Gram-negative bacillus, and is usually isolated from clinical and environmental samples. It is an opportunistic pathogen that affects children and adults. Most cases may be due to underlying…

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  • MultiModalGraphics: an R package for graphical integration of multi-omics datasets | BMC Bioinformatics

    MultiModalGraphics: an R package for graphical integration of multi-omics datasets | BMC Bioinformatics

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  • Sean ‘Diddy’ Combs files to appeal his conviction and sentence | Ents & Arts News

    Sean ‘Diddy’ Combs files to appeal his conviction and sentence | Ents & Arts News

    Sean ‘Diddy’ Combs is appealing the conviction handed down to him earlier this year over prostitution charges relating to his former girlfriends and male sex workers.

    The music mogul was given a 50-month sentence and a $500,000 fine

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  • Differences in swallowing efficacy of disease modifying treatment between infants receiving pre-symptomatic and symptomatic administration | Orphanet Journal of Rare Diseases

    Differences in swallowing efficacy of disease modifying treatment between infants receiving pre-symptomatic and symptomatic administration | Orphanet Journal of Rare Diseases

    Sample demographics and characteristics

    Sixty-nine infants (49% female) meeting eligibility criteria were identified and included in the investigation. The majority received treatment after symptom onset (N = 52, 75%) and had two copies of SMN2 (pre-symptomatic N = 17, 100%; symptomatic N = 48, 92%) with others having three copies. All infants were treated with available disease modifying therapies (Risdiplam [Evrysdi®], Nusinersen [Spinraza®],Onasemnogene-abeparvovec [Zolgensma®]), with nearly half having received a combination of treatments (pre-symptomatic N = 10, 59%; symptomatic N = 28, 54%). Interestingly, ten (19%) of the infants who received treatment after symptom onset were identified as having SMA following SMA screening without symptoms triggering a referral and diagnosis. Upon initial neurology evaluation eight of those infants (80%) already exhibited clear symptoms of SMA (ex. Loss of reflexes) which were identified at an average age of 16 days. The other two did not exhibit symptoms at the time of their initial neurology consultation, though developed symptoms before their treatment was administered an average of 7 days later.

    Infants treated pre-symptomatically received treatment at a younger age (median = 0.50, IQR 0.44 months), than those treated after symptom onset (2.81, IQR 3.56 months, t = 17.67, p < 0.001, δ = 0.89). Nine infants (13%) were born prematurely, with all but one being born in the late preterm period (median 36 weeks). Other comorbidities included laryngo or tracheomalacia (N = 3, 4%), biliary atresia (N = 1, 1%), craniosynostosis (N = 1, 1%), extralobar sequestration (N = 1, 1%), paraesophageal hernia (N = 1, 1%), and milk protein allergy (N = 1, 1%).

    Median age of infants at the time of their last VFSS was 7.92 months (IQR 4.83), with infants who received pre-symptomatic treatment younger at the time of their last exam (6.8 IQR 5.77 months) than those who received treatment after symptoms (8.35, IQR 4.71; t = 2.96, p = 0.04, δ = 0.33). Although the majority (80%, N = 55) of infants underwent swallow studies due to clinical symptoms, 20% (N = 14) underwent the exam without symptoms as part of a routine, high-risk workup. Significantly more infants who received pre-symptomatic treatment underwent a routine, high-risk VFSS (59%, N = 10) than did those who received symptomatic treatment (8%, N = 4, p < 0.001, OR 0.06). Nearly all infants (86%, N = 59) were evaluated while consuming thin liquids, with other consistencies observed including mildly thick (43%, N = 30), moderately thick (22%, N = 15).

    At the time of last VFSS, 50% (N = 26) of symptomatic treated infants were receiving noninvasive ventilation or mechanical ventilation via tracheostomy (22/26, 85% strictly nocturnal), while only one of those treated pre-symptomatic required these supports (strictly nocturnal) (χ2 = 9.43, p = 0.002, OR 17.28). CHOP INTEND scores were available for 66% of infants, with a median score of 46 [16] out of 64. Table 1 provides a full listing of infant demographics and clinical characteristics.

    Table 1 Sample demographics and characteristics (N = 69)

    Swallow biomechanics

    Raters achieved scores corresponding to a Landis-Koch category of moderate or greater (kappa > 0.55) agreement in their reliability of analyzing all BabyVFSSImP© and ICCs of ≥ 0.72 for the Swallowtail components. While profound impairments in BabyVFSSImP© swallowing biomechanics were rare among infants who received pre-symptomatic treatment, they were common among infants treated after symptom onset. This was reflected in significantly worse (higher) scores in four BabyVFSSImP© domains (ts > 3.25, ps ≤ 0.01, δ > 0.42): Palatal-Pharyngeal Approximation, Airway Invasion/Laryngeal Closure, Aspiration, and Pharyngeal Transport and Clearance (Table 2). Specifications of the oropharyngeal swallowing biomechanics underlying these differences across treatment groups are outlined below, with a full listing of BabyVFSSImP© component scores provided in supplemental Table 2.

    Table 2 Swallowing Biomechanics by Treatment Group (N = 69)

    Bolus Extraction: Though the majority (76%, N = 13) of infants who received pre-symptomatic treatment promptly initiated sucking when presented with the nipple, all but one had to suck > 3 times to express sufficient bolus to swallow. Prompt initiation of sucking tended to be less common in infants treated after symptom onset (40%, N = 21), with 55% (N = 28) of these infants not initiating sucking at all (χ2(1) = 3.59, p = 0.06, OR 0.28).

    Bolus Clearance: Infants who received pre-symptomatic treatment rarely exhibited profound impairments in the ability to clear the ingested liquid from their pharynx, with no infants exhibiting profound impairments in pharyngeal constriction ratio (PCR > 0.2cm2), tongue base retraction, or pharyngeal residue, and only one infant exhibiting profound reductions in soft palate elevation (6%, N = 1) and pharyngoesophageal segment opening (6%, N = 1). Clinical specifications of those pre-symptomatic infants with profound impairments are outlined in Table 3. This was in contrast to infants treated after symptom onset, for whom a significantly higher proportion of infants (23–43%) exhibited profound impairments in these processes (BabyVFSSImP©, χ2(1) > 4.45, p ≤ 0.03, OR > 9.21; SwallowTail pharyngeal constriction ratio, fisher’s exact p = 0.03, OR = 0). These deficits in the propulsion of the bolus through the pharynx among infants treated after symptom onset were reflected in elevated Swallowtail pharyngeal constriction ratio values (symptomatic m = 0.15, sd = 0.16; pre-symptomatic m = 0.03, sd = 0.02; t (53.80) = 5.10, p < 0.001, d = 0.88). No differences were observed between groups in pharyngoesophageal segment opening duration (symptomatic m = 0.24, sd = 0.09; pre-symptomatic m = 0.22, sd = 0.06); t(40.04) = 0.84, p = 0.41, d = 0.20).

    Table 3 Clinical Characteristics of Pre-Sympomatic Infants with Profound Swallowing Impairments

    Airway Protection: Penetration occurred in almost all infants in both pre-symptomatic (95%, N = 16) and symptomatic (90%, N = 47) treatment groups (p = 1). Although aspiration occurred less frequently, it was still commonly observed; occurring more frequently in infants treated after symptom onset (71%, N = 36) than pre-symptomatic (35%. N = 6, χ2(1) = 5.31, p = 0.02, OR 4.4). Interestingly, among those infants who aspirated, 17% (N = 7) were not reported to be exhibiting feeding difficulties, with VFSS’ done as part of high-risk referral (pre-symptomatic 67%, N = 4; symptomatic 8%, N = 3).

    Swallow function

    Although all pre-symptomatic treated infants were managing secretions without suctioning, and nearly all were consuming full age-appropriate nutrition (N = 15, 88%), similar to biomechanics, some pre-symptomatic treated infants did exhibit profound functional impairments. Clinical deficits among those pre-symptomatic treated infants who required alternative nutrition appeared 11 days following treatment, with the reason for tube provision ranging from swallowing deficits impeding safe oral nutrition to impairments in consuming sufficient oral nutrition to meet caloric requirements. Table 3 provides further specifications pertaining to the clinical conditions of those pre-symptomatic infants who exhibited profound impairments. Significantly more infants treated after symptom onset required suctioning for secretion management (38% vs 0%; fisher’s p = 0.002, OR 0) and were not consuming age-appropriate oral nutrition (50% vs. 12%; χ2 (1) = 17.33, p < 0.001, OR 20.35) than those treated pre-symptomatic. Table 4 provides a full listing of CEDAS scores.

    Table 4 Children’s Eating and Drinking Activity Scale (CEDAS)

    Swallow biomechanics were associated with swallowing function, with the odds of an infant requiring suctioning for secretion management increasing significantly with increases in BabyVFSSImP© domain V: pharyngeal transport and bolus clearance scores (β = 0.30, z = 2.76, p = 0.006) and Swallowtail pharyngeal constriction ratio (β = 3.76, z = 1.83, p = 0.047). Among those domain V components, pharyngeal stripping wave was particularly predictive of suctioning needs (fisher’s exact p = 0.001, OR = 9.78). In contrast, the odds of an infant not achieving age-appropriate nutrition or hydration was significantly predicted by increases in domain I: lingual motion/swallow initiation (β = 0.26, z = 2.49, p = 0.013).

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  • Multiplex long-amplicon sequencing for comprehensive molecular surveillance of Plasmodium falciparum resistance to artemisinin and partner drugs in artemisinin-based combination therapies (ACTs) | Parasites & Vectors

    Multiplex long-amplicon sequencing for comprehensive molecular surveillance of Plasmodium falciparum resistance to artemisinin and partner drugs in artemisinin-based combination therapies (ACTs) | Parasites & Vectors

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  • Joke’s on you, fleshbag! Channel 4’s first AI presenter is dizzyingly grim on so many levels | Television

    Joke’s on you, fleshbag! Channel 4’s first AI presenter is dizzyingly grim on so many levels | Television

    Last night’s Dispatches was called Will AI Take My Job? Usually when something like this employs a question mark in the title, it’s because the answer is no. Not this time, though, because the sheer overwhelming inevitability of AI taking our…

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  • Determinants of hepatitis C virus treatment completion among Los Angeles County residents | BMC Infectious Diseases

    Determinants of hepatitis C virus treatment completion among Los Angeles County residents | BMC Infectious Diseases

    We conducted a secondary data analysis of data collected in an ongoing linkage-to-cure project, Project Hepatitis C Virus Connect, a public-academic partnership between the Los Angeles County Department of Public Health and University of Southern…

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  • Commonwealth Games tickets go on sale for Glaswegians

    Commonwealth Games tickets go on sale for Glaswegians

    Getty Images A woman with a blue top saying Scotland and an athletics bib saying Muir is running around an athletics track. Several other female athletes can be seen following her in the background.Getty Images

    Laura Muir took gold at the 2022 Birmingham Commonwealth Games

    The first batch of tickets for the Commonwealth Games in 2026 have gone on sale.

    People living within Glasgow postcode areas who registered in advance had the first…

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  • Efficacy and tolerability of a low-glycemic-index ketogenic diet in Angelman syndrome: findings from the DIANE study | Orphanet Journal of Rare Diseases

    Efficacy and tolerability of a low-glycemic-index ketogenic diet in Angelman syndrome: findings from the DIANE study | Orphanet Journal of Rare Diseases

    Our study, which included pediatric patients with Angelman Syndrome (AS), did not demonstrate that the low-glycemic-index diet (LGID) produces clinical improvement in any of the neurodevelopmental domains assessed using the Bayley Scales of Infant and Toddler Development-III.

    Although various publications explore the use of the ketogenic diet (KD) in patients with AS, most of these studies focus on its efficacy for epilepsy control. However, there are few studies where the primary objective is to analyze the potential effects of KD on neurocognitive and behavioral development in this population. Previous research has reported that KD has positive cognitive and behavioral effects in pediatric patients with epilepsy, regardless of seizure control or the number of concomitant antiepileptic drugs [11, 15,16,17]. These benefits include improvements in alertness, attention, reciprocal social interaction, mood, sustained attention, receptive vocabulary, and information processing speed. Furthermore, various reviews have reported subjective data from parents describing their children as “more awake” and “more attentive” after starting the diet [17].

    In the specific population with AS, Grocott et al. [18] retrospectively reviewed 23 patients treated with LGID and found that most achieved improved seizure control: 22% remained seizure-free, 43% experienced seizures only in specific contexts such as illness or non-convulsive status, and 30% showed a significant reduction in seizure frequency. Additionally, Thibert et al. [13] conducted a prospective study on the efficacy and tolerability of LGID in AS patients, reporting a reduction in seizure frequency in all patients, a reduction greater than 80% in five of them, and generalized improvements in EEG patterns. This study also reported a subjective perception of neurodevelopmental improvement from parents, although only some of these improvements were statistically significant in neuropsychological assessments.

    Our results align with these findings. In our study, we observed qualitative improvement in the EEGs of patients treated with LGID compared to the habitual diet group after 24 weeks of intervention (44% improvement in the LGID group versus 25% in the habitual diet group). Moreover, in the LGID group, only 11% of patients experienced clusters of epileptic seizures, compared to 25% in the habitual diet group, which included one case of non-convulsive status epilepticus.

    Although no statistically significant cognitive differences were achieved, a trend toward improvement was observed in receptive language, expressive language, and communication domains in the LGID group. Similarly, subjective parental perception reflected a global improvement in neurodevelopment in most cases. This outcome aligns with previous observations and reinforces the hypothesis that LGID may have neurocognitive benefits in patients with AS. In fact, five of the nine patients in the LGID group chose to continue the diet after completing the study, suggesting a positive impact perceived by families.

    Sleep plays a fundamental role in the development and maintenance of memory and learning. Improving sleep quality and structure can significantly enhance sustained attention and memory in children. In patients with Angelman Syndrome (AS), it is estimated that approximately 80% experience moderate to severe sleep disturbances. Pelc et al. [26] conducted a clinical review in a small group of AS patients and described specific sleep characteristics, such as reduced total sleep duration, increased sleep-onset latency, altered sleep architecture, frequent nighttime awakenings, and reduced REM phase. Similarly, Spruyt et al. [27] conducted a systematic review and meta-analysis of 14 heterogeneous studies, mostly observational, and concluded that characteristic sleep problems in AS include reduced total sleep time, increased latency, frequent awakenings, and reduced sleep efficiency.

    Additionally, Miano et al. [29] evaluated 10 children with AS using polysomnography and compared them with a control group of patients with intellectual disabilities with or without epilepsy. The results showed a significant increase in sleep state transitions, four times more frequent awakenings, and a 50% reduction in time spent in the deepest stage of sleep (NREM). This suggests considerably reduced sleep quality and lower sleep efficiency in AS patients.

    Our results are consistent with these observations, as patients in our series showed reduced total sleep time, increased latency, frequent awakenings, and decreased sleep efficiency.

    Pasca et al. [30] reviewed the effects of the ketogenic diet (KD) on sleep in neurological conditions such as autism spectrum disorders, epilepsy, and migraines, finding improvements in overall sleep quality, sleep-onset latency, reduction of nighttime awakenings, improved daytime sleepiness, and increased REM sleep. In our study, although a trend toward improvement in sleep quality was observed in the LGID group compared to the habitual diet group, these data were not statistically significant, preventing the assertion that LGID alone improves sleep structure.

    It is important to note the limitations of this study. These include the small sample size, inherent to rare diseases such as Angelman syndrome, which limits statistical power. Additionally, the 24-week follow-up may have been insufficient to detect clinically meaningful changes in neurodevelopmental parameters, which often require longer durations to reach statistical significance. Developmental age equivalents were used as the primary outcome measure instead of more sensitive psychometric scores such as the Person Ability Score (PAS). Although this choice aligned with standard practice in 2021, it may have limited the detection of subtle changes in this population. Similarly, the use of standard scores from the VABS-II may have lacked sensitivity to small variations over time, particularly in individuals with profound impairment. As with the Bayley-III, this approach was consistent with prevailing clinical guidelines and research practices in Angelman syndrome; however, more sensitive metrics such as PAS could not be derived due to the unavailability of item-level conversion tools. Finally, some missing data resulted from incomplete caregiver diaries, likely due to the emotional and time burden of caregiving, as well as issues with the use of the Actiwatch by some children, which limits the reliability of the data.

    In conclusion, although a trend toward greater evolutionary improvement was observed in the LGID group compared to the habitual diet group, these differences were not statistically significant in the various domains evaluated using the Bayley Scales of Infant and Toddler Development-III and cannot be solely attributed to the low-glycemic-index ketogenic diet. However, global improvements were identified in several variables evaluated at six months in the LGID group, and no serious adverse reactions attributable to the diet were reported.

    These preliminary results do not support recommending the low-glycemic-index ketogenic diet as a generalized treatment for cognitive improvement in AS patients. Further studies with larger sample sizes and robust designs are needed to evaluate the potential impact of this intervention in this population.

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