Advanced BioNutrition (United States)

Dysplasia epiphysealis hemimelica, also known as Trevor disease, is a rare and intriguing developmental disorder characterized by asymmetric cartilage overgrowth at the epiphyses, predominantly affecting long bones. We present a case of an 8-year-old girl with dysplasia epiphysealis hemimelica involving the carpal bones which is a highly unusual site in the upper limb. The patient underwent successful surgical excision of the symptomatic wrist mass, leading to notable functional improvement, albeit with mild residual extension limitation. This case highlights the critical role of advanced imaging in accurate diagnosis and surgical planning. Although conservative management remains the standard, timely surgical intervention may be necessary to alleviate symptoms and restore function in cases with notable impairment.

Abstract NUT carcinoma (NC) is an aggressive malignancy driven by NUTM1 gene rearrangements with limited therapeutic options. Here, we show that direct suppression of NUTM1 using CRISPR/Cas9 induces squamous-like differentiation and upregulates TROP2 expression in NC cells. Building on this finding, we developed a TROP2–interferon beta (IFN-β) mutein immunocytokine that selectively targets TROP2-expressing tumors. Combined NUTM1 suppression and TROP2-targeted immunotherapy synergistically enhanced cytotoxic and immune-mediated responses in vitro . Transcriptomic and spatial analyses of NC patient tumors revealed that differentiation status correlates with TROP2 expression, upregulated immune pathways, and favorable clinical outcomes. Our results suggest that overcoming differentiation blockade not only alters tumor phenotype but also creates a more immune-permissive microenvironment. These findings highlight the therapeutic potential of sequential tumor reprogramming followed by targeted immunotherapy in treating NC and propose a broader strategy for overcoming differentiation blockade in fusion-driven cancers.

Isotopes in the region of the nuclear chart below ⁶⁸Ni have been the subject of intense experimental and theoretical effort due to the potential onset of a new "island of inversion" when crossing the harmonic oscillator subshell closure at <em>N</em> = 40. We have measured the masses of ⁶⁴⁻⁶⁸Mn using TITAN's multiple-reflection time-of-flight mass spectrometer, resulting in the first precision mass measurements of ⁶⁷Mn and ⁶⁸Mn. These results are compared to <em>ab initio</em> calculations and modern shell model calculations and show an increase in collectivity approaching <em>N</em> = 40.

Surgical correction remains the most effective treatment of patients with severe neuromuscular scoliosis (NMS). However, postoperative inpatient clinical care after spinal surgery for NMS patients is highly complex and variable, depending on the provider and/or institution. Our project used a quality improvement methodology to implement a standardized clinical care pathway for NMS patients during their primary spinal surgery, with the global aim of decreasing postoperative hospitalized length of stay (LOS). A multidisciplinary team developed a postoperative pathway for nonambulatory patients with NMS after their primary, nonstaged corrective spinal surgery. The outcome measure was mean LOS, and the process measure was percentage compliance with the newly implemented NMS pathway. The team used statistical process control charts and measures were evaluated over 3 phases to assess the impact of the interventions over time: pretesting, testing, and sustain. The mean LOS decreased from 8.0 to 5.3 days; a statistically significant change based on statistical process control chart rules. Percentage compliance with the NMS pathway improved during the testing and sustain phases, compared with the pretesting phase. LOS variability decreased from pretesting to the combined testing and sustain phases. Using quality improvement methodology, we successfully standardized major components of clinical care for patients with NMS after spinal corrective surgery. Through enhanced care consistency, the mean postoperative LOS decreased by nearly 3 days and decreased LOS variability. Robust multidisciplinary involvement with key stakeholders ensured sustainability of these improvements.

Rationale:Coronavirus disease 2019 (COVID-19) is affecting mental health profoundly. Previous studies have reported pandemic-related anxiety. Anxiety disorder and autism spectrum disorder (ASD) are common comorbidities. However, there has been no report of any patient with undiagnosed ASD who developed anxiety disorders caused by the COVID-19 pandemic. In this case report, we describe an 8-year-old Japanese boy with undiagnosed ASD who developed COVID-19 phobia, resulting in avoidant restrictive food intake disorder (ARFID).Patient concerns:As COVID-19 was highly publicized in the mass media and the risk of droplet infection was emphasized upon, the patient began to fear viral contamination from food, culminating in a refusal to eat or even swallow his saliva. He was admitted to a pediatric medical center in Osaka with life-threatening dehydration and was then referred to our child psychiatry department.Diagnosis:We diagnosed the patient with COVID-19 phobia resulting in ARFID. We identified ASD traits from his present social communication skills and developmental history.Interventions:We provided psychoeducation of ASD for the parents and administered supportive psychotherapy.Outcomes:Shortly after our intervention to relieve his ASD-related anxiety, his dysphagia improved.Lessons:Our findings suggest that children with undiagnosed ASD may develop COVID-19 phobia. In these cases, intervention for ASD may be more appropriate than starting treatment for anxiety disorders as the first-line option. COVID-19 is the biggest pandemic in the recent past, and more undiagnosed ASD patients who develop COVID-19 phobia may seek treatment. Clinicians should consider the underlying ASD in these patients and assess their developmental history and present social communication skills.

When PhD student Ibrahima Diagne has to take a sample of the wastewater flowing from Dakar’s drainage canals into Hann Bay, he does the smart thing: Diagne sends the master’s student who came with him to do it. On a recent morning, that student, Cheikh Tidiane Dione, rolled up his pants, tied plastic bags around his hands, and got to work in the cloudy water, careful to avoid the trash that accumulates around the canal’s opening. As he took the sample, a woman came by with a bucket of her kitchen scraps and tossed them straight into the water. Further down the beach, Dione took a sample from another canal that runs black and thick with something viscous—oil, Diagne hypothesized—combined with fecal matter. In the opposite direction, a different canal releases malodorous wastewater from an industrial zone that includes several food companies and a tannery. The bay receives wastewater from many industrial sources, including chemical companies, an abattoir, and an oil refinery. More than 10 years ago, Marc Bouvy, a researcher with the French Research Institute for Development (IRD), undertook a study of bacterial contamination in the bay.1,2 He says that several pipes from industrial sources released unknown pollutants, including one that “one day released red wastewater and other days released waters that were green and yellow.” Once a sparkling jewel with white sand beaches, Senegal’s Hann Bay is now severely polluted with untreated sewage, industrial waste, and more. Researchers are studying what’s in the water, how it’s affecting life around the bay, ... These are just a few of the many outflows that stream into the bay, a stretch of beach that runs from the industrial port of Dakar about eight miles to the outskirts of the city. All of them, the canals and the pipes, have been pouring their waste into the bay unimpeded and untreated for years. Now researchers are filling in details about what’s polluting the waters of the bay and how to mitigate the problem.

OBJECTIVETo determine the separate effects of zinc and multivitamin supplementation on infant hematologic status.METHODSIn a double‐blind RCT, infants born to HIV‐negative women (n=2400) in Dar es Salaam, Tanzania were randomized to daily oral supplementation with zinc (Zn), multivitamins (MV), Zn and MV, or placebo at age 6 wk. Hemoglobin concentration (Hb) and red cell indices were measured at baseline and ages 6, 12, and 18 mo. A subset of infants (n = 589) was examined for iron deficiency at 6 mo, defined as ferritin &lt; 12 μg/L or, where α‐glycoprotein 蠅 1.0 g/L, serum transferrin receptor &gt; 8.3 mg/L.RESULTSInfants treated with MV had higher mean Hb than those given placebo or Zn alone at 18 mo (9.9 vs. 9.6 g/dL, p = .0009). Infants treated with Zn had RR of 1.71 (95% CI 1.01 – 2.89) for iron deficiency at 6 mo, while those treated with MV had RR 0.52 (95% CI 0.30 – 0.90). In Cox models, MV were associated with a 28% reduction in risk of severe anemia (HR = 0.72 [95%CI 0.56 – 0.94]) and a 26% reduction in risk of severe microcytic anemia (HR = 0.74 [95% CI 0.56 – 0.96]) through age 18 mo. No effects of Zn on risk of anemia were seen.CONCLUSIONSMV were associated with reduced risk of both iron deficiency and severe microcytic anemia, while Zn was associated with increased risk of iron deficiency but no longer term increase in risk of anemia.FundingNICHD (R01 HD048969; K24HD058795); NIAAA (K23 AA020516); Bill and Melinda Gates Foundation (OPP1066203)

BackgroundMC4R genotype has been related to adiposity, glucose metabolism and risk of GDM. We aimed to test whether MC4R genotype modify postpartum weight retention on glucose metabolism biomarkers at postpartum among women with history of gestational diabetes mellitus (GDM).Methods and materialsWe analyzed glucose metabolism biomarkers (HOMA‐IR, fasting glucose, 2 hours glucose and HbA1c) at 1‐5 years after delivery in 1208 Chinese women with prior GDM. Postpartum retention weight was calculated by weight change from pre‐pregnancy to postpartum 1‐5 years. We genotyped GWAS‐identified MC4R rs6567160.ResultsThe mean of weight retention was 2.8kg (95% CI: 2.4; 3.1kg). The frequency of adiposity‐increasing allele (C) of SNP rs6567160 was 23%, and it was significantly associated with a 0.09% higher postpartum HbA1c (p=0.014) after adjustment for age and BMI. In addition, we found significant interactions between MC4R genotype and weight retention on 2 hours glucose levels (β=0.023 p=0.003) and HOMA‐IR (β=‐0.055 p=0.035) after adjustment for age, BMI and follow‐up year.ConclusionOur data indicate that MC4R genotype is related to glucose metabolism, and interact with postpartum weight retention in women with history of GDM.