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1.
J Neurosci Res ; 102(4): e25334, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38656648

RESUMEN

Iron deficiency (ID) has been shown to affect central nervous system (CNS) development and induce hypomyelination. Previous work from our laboratory in a gestational ID model showed that both oligodendrocyte (OLG) and astrocyte (AST) maturation was impaired. To explore the contribution of AST iron to the myelination process, we generated an in vitro ID model by silencing divalent metal transporter 1 (DMT1) in AST (siDMT1 AST) or treating AST with Fe3+ chelator deferoxamine (DFX; DFX AST). siDMT1 AST showed no changes in proliferation but remained immature. Co-cultures of oligodendrocyte precursors cells (OPC) with siDMT1 AST and OPC cultures incubated with siDMT1 AST-conditioned media (ACM) rendered a reduction in OPC maturation. These findings correlated with a decrease in the expression of AST-secreted factors IGF-1, NRG-1, and LIF, known to promote OPC differentiation. siDMT1 AST also displayed increased mitochondrial number and reduced mitochondrial size as compared to control cells. DFX AST also remained immature and DFX AST-conditioned media also hampered OPC maturation in culture, in keeping with a decrease in the expression of AST-secreted growth factors IGF-1, NRG-1, LIF, and CNTF. DFX AST mitochondrial morphology and number showed results similar to those observed in siDMT1 AST. In sum, our results show that ID, induced through two different methods, impacts AST maturation and mitochondrial functioning, which in turn hampers OPC differentiation.


Asunto(s)
Astrocitos , Diferenciación Celular , Deficiencias de Hierro , Oligodendroglía , Astrocitos/metabolismo , Astrocitos/efectos de los fármacos , Oligodendroglía/metabolismo , Oligodendroglía/efectos de los fármacos , Animales , Diferenciación Celular/efectos de los fármacos , Diferenciación Celular/fisiología , Células Cultivadas , Proteínas de Transporte de Catión/metabolismo , Técnicas de Cocultivo , Medios de Cultivo Condicionados/farmacología , Ratas , Células Precursoras de Oligodendrocitos/efectos de los fármacos , Células Precursoras de Oligodendrocitos/metabolismo , Deferoxamina/farmacología , Proliferación Celular/efectos de los fármacos , Proliferación Celular/fisiología , Hierro/metabolismo
2.
Plant Physiol Biochem ; 210: 108641, 2024 Apr 18.
Artículo en Inglés | MEDLINE | ID: mdl-38663267

RESUMEN

Manganese (Mn) deficiency is a widespread occurrence across different landscapes, including agricultural systems and managed forests, and causes interruptions in the normal metabolic functioning of plants. The microelement is well-characterized for its role in the oxygen-evolving complex in photosystem II and maintenance of photosynthetic structures. Mn is also required for a variety of enzymatic reactions in secondary metabolism, which play a crucial role in defense strategies for trees. Despite the strong relationship between Mn availability and the biosynthesis of defense-related compounds, there are few studies addressing how Mn deficiency can impact tree defense mechanisms and the ensuing ecological patterns and processes. Understanding this relationship and highlighting the potentially deleterious effects of Mn deficiency in trees can also inform silvicultural and management decisions to build more robust forests. In this review, we address this relationship, focusing on forest trees. We describe Mn availability in forest soils, characterize the known impacts of Mn deficiency in plant susceptibility, and discuss the relationship between Mn and defense-related compounds by secondary metabolite class. In our review, we find several lines of evidence that low Mn availability is linked with lowered or altered secondary metabolite activity. Additionally, we compile documented instances where Mn limitation has altered the defense capabilities of the host plant and propose potential ecological repercussions when studies are not available. Ultimately, this review aims to highlight the importance of untangling the effects of Mn limitation on the ecophysiology of plants, with a focus on forest trees in both managed and natural stands.

3.
Artículo en Inglés | MEDLINE | ID: mdl-38663448

RESUMEN

We experienced an atypical case of radial longitudinal deficiency that did not fit into any classifications, including Blauth. The patient had a bilateral hypoplastic thumb, in which the index and middle fingers were missing in the right hand. We performed surgeries in four stages: centralization of the right hand, opponensplasty of the right thumb, opponensplasty of the left thumb, and distraction lengthening of the right ulnar. Twenty-five years after the initial treatment, the patient was satisfied with the treatment and had no significant difficulty with activities of daily living.

4.
J Sci Med Sport ; 2024 Apr 11.
Artículo en Inglés | MEDLINE | ID: mdl-38664149

RESUMEN

OBJECTIVES: This was a pilot study that examined the relationship between nutrition knowledge and risk for low energy availability (LEA) in NCAA athletes. METHODS: Athletes (64.4 % female, 35.6 % male) completed the Abridged Nutrition for Sport Knowledge Questionnaire (A-NSKQ) and either the Low Energy Availability in Females Questionnaire (LEAF-Q) or Male Athlete Triad (MAT) screening questions. RESULTS: Females at risk for LEA had higher nutrition knowledge, demonstrated by higher A-NSKQ scores, than those classified as low risk (16.5 vs 14.5, p = 0.01). There was a very weak correlation between MAT and A-NSKQ scores (R2 = 0.012).

5.
Artículo en Inglés | MEDLINE | ID: mdl-38664345

RESUMEN

BACKGROUND AND OBJECTIVES: Hepatitis A virus (HAV)-related hepatitis is witnessing an epidemiological transition with increasing trends in adults. While uncomplicated hepatitis remains common, evidence suggests it to be a growing cause for acute liver failure (ALF). In between the two extremes exists severe acute liver injury (s-ALI) which has a propensity to transition to ALF. We aimed at describing the clinical profile of patients with HAV-related s-ALI and identifying potential predictors of progression to ALF. METHODS: This was a single-center retrospective analysis of adult patients admitted with HAV-related s-ALI between April 2022 and December 2023. Demographic and laboratory parameters were compared between patients with only s-ALI and those with ALF. Predictors of progression from s-ALI to ALF were identified using logistic regression. RESULTS: Forty-three patients satisfied criteria of s-ALI, of which 33 (76.7%) had only s-ALI, while 10 (23.3%) had ALF. Patients with s-ALI had lesser leukocytosis (6.3 ± 3 vs. 13.2 ± 4.8), less incidence of acute kidney injury (9.1% vs. 40%) and lower model for end-stage liver disease (MELD) (20 [18-24.5] vs. 31.5 [26-42]), arterial lactate (2.1 [1.3-3.1] vs. 6.3 [5.2-8.0]), arterial ammonia (94 [72-118] vs. 299 [188-573]), procalcitonin (0.5 [0.28-1.25] vs. 3.2 [1.2-6.1]) and ferritin (482 [213-1633] vs. 5186 [1341-11,053]) compared to HAV-ALF (p < 0.05 for all). Three patients (9.09%) with s-ALI progressed to ALF of whom one (3%) died. Baseline ammonia levels (unadjusted odds ratio [OR] 1.03 [1.01-1.06]) and leukocyte count (OR 1.00 [1.00-1.01]) tended to be associated with ALF progression, although none was significant after multi-variable adjustment. Ammonia levels had an area under receiver operating curve of 0.816 (0.64-0.93) (p = 0.009) (cut-off of 144 µmol/L). Additional comorbidities did not impact overall outcomes. CONCLUSION: HAV presents as s-ALI in young adults, with almost one in 10 progressing to ALF. Baseline ammonia may be an important predictor of progression even in s-ALI, but mandates larger well-designed studies.

6.
Br J Haematol ; 2024 Apr 25.
Artículo en Inglés | MEDLINE | ID: mdl-38664944

RESUMEN

This updated British Society for Haematology guideline provides an up-to-date literature review and recommendations regarding the identification and management of preoperative anaemia. This includes guidance on thresholds for the diagnosis of anaemia and the diagnosis and management of iron deficiency in the preoperative context. Guidance on the appropriate use of erythropoiesis-stimulating agents and preoperative transfusion is also provided.

7.
Front Endocrinol (Lausanne) ; 15: 1355916, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38665259

RESUMEN

Introduction: 24-Hydroxylase, encoded by the CYP24A1 gene, is a crucial enzyme involved in the catabolism of vitamin D. Loss-of-function mutations in CYP24A1 result in PTH-independent hypercalcaemia with high levels of 1,25(OH)2D3. The variety of clinical manifestations depends on age, and underlying genetic predisposition mutations can lead to fatal infantile hypercalcaemia among neonates, whereas adult symptoms are usually mild. Aim of the study: We report a rare case of an adult with primary hyperparathyroidism and loss-of-function mutations in the CYP24A1 gene and a review of similar cases. Case presentation: We report the case of a 58-year-old woman diagnosed initially with primary hyperparathyroidism. Preoperatively, the suspected mass adjoining the upper pole of the left lobe of the thyroid gland was found via ultrasonography and confirmed by 99mTc scintigraphy and biopsy as the parathyroid gland. The patient underwent parathyroidectomy (a histopathology report revealed parathyroid adenoma), which led to normocalcaemia. After 10 months, vitamin D supplementation was introduced due to deficiency, and the calcium level remained within the reference range. Two years later, biochemical tests showed recurrence of hypercalcaemia with suppressed parathyroid hormone levels and elevated 1,25(OH)2D3 concentrations. Further investigation excluded the most common causes of PTH-independent hypercalcaemia, such as granulomatous disease, malignancy, and vitamin D intoxication. Subsequently, vitamin D metabolites were measured using LC-MS/MS, which revealed high levels of 25(OH)D3, low levels of 24,25(OH)2D3 and elevated 25(OH)2D3/24,25(OH)2D3 ratios, suggesting a defect in vitamin D catabolism. Molecular analysis of the CYP24A1 gene using the NGS technique revealed two pathogenic variants: p.(Arg396Trp) and p.(Glu143del) (rs114368325 and rs777676129, respectively). Conclusions: The diagnostic process for hypercalcaemia becomes complicated when multiple causes of hypercalcaemia coexist. The measurement of vitamin D metabolites using LC-MS/MS may help to identify carriers of CYP24A1 mutations. Subsequent molecular testing may contribute to establishing the exact frequency of pathogenic variants of the CYP24A1 gene and introducing personalized treatment.


Asunto(s)
Adenoma , Hipercalcemia , Neoplasias de las Paratiroides , Vitamina D3 24-Hidroxilasa , Humanos , Hipercalcemia/genética , Femenino , Persona de Mediana Edad , Vitamina D3 24-Hidroxilasa/genética , Neoplasias de las Paratiroides/genética , Neoplasias de las Paratiroides/complicaciones , Neoplasias de las Paratiroides/cirugía , Neoplasias de las Paratiroides/patología , Adenoma/genética , Adenoma/complicaciones , Adenoma/patología , Mutación , Paratiroidectomía
8.
Ren Fail ; 46(1): 2338931, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38622929

RESUMEN

BACKGROUND: IgA nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. Proliferation-inducing ligand (APRIL) was identified as an important cause of glycosylation deficiency of IgA1 (Gd-IgA1), which can 'trigger' IgAN. Our previous study indicated that high migration group protein B2 (HMGB2) in peripheral blood mononuclear cells from patients with IgAN was associated with disease severity, but the underlying mechanism remains unclear. MATERIALS AND METHODS: The location of HMGB2 was identified by immunofluorescence. qRT-PCR and Western blotting were used to measure HMGB2, HMGA1, and APRIL expression. Gd-IgA1 levels were detected by enzyme-linked immunosorbent assay (ELISA). In addition, we used DNA pull-down, protein profiling, and transcription factor prediction software to identify proteins bound to the promoter region of the APRIL gene. RNA interference and coimmunoprecipitation (Co-IP) were used to verify the relationships among HMGB2, high mobility group AT-hook protein 1 (HMGA1), and APRIL. RESULTS: HMGB2 expression was greater in IgAN patients than in HCs and was positively associated with APRIL expression in B cells. DNA pull-down and protein profiling revealed that HMGB2 and HMGA1 bound to the promoter region of the APRIL gene. The expression levels of HMGA1, APRIL, and Gd-IgA1 were downregulated after HMGB2 knockdown. Co-IP indicated that HMGB2 binds to HMGA1. The Gd-IgA1 concentration in the supernatant was reduced after HMGA1 knockdown. HMGA1 binding sites were predicted in the promoter region of the APRIL gene. CONCLUSION: HMGB2 expression is greater in IgAN patients than in healthy controls; it promotes APRIL expression by interacting with HMGA1, thereby inducing Gd-IgA1 overexpression and leading to IgAN.


Asunto(s)
Glomerulonefritis por IGA , Humanos , ADN/metabolismo , Glicosilación , Proteína HMGA1a/metabolismo , Proteína HMGB2/genética , Proteína HMGB2/metabolismo , Inmunoglobulina A , Leucocitos Mononucleares/metabolismo , Factores de Transcripción/metabolismo , Miembro 13 de la Superfamilia de Ligandos de Factores de Necrosis Tumoral
9.
Heliyon ; 10(7): e29058, 2024 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-38623202

RESUMEN

Anemia is a severe health issue that affects around one-third of the global population. Therefore, the present study aims to conduct a bibliometric analysis to investigate the research trends regarding advancements on iron formulations in treating iron deficiency anemia via oral or parenteral route. This study adopts thematic and bibliometric methods on existing research on novel iron formulations. It also provides perspective into the existing understanding on treatment strategies for iron deficiency anemia. This study is conducted on 543 papers on various ferrous and ferric formulations used in the treatment of iron deficiency anemia. The study period is from 1977 to 2022, and the papers are identified from the Scopus database. The bibliometric analysis was carried out using the R tool's Bibliometrix package. The study discusses performance analysis, including annual publications, geographic analysis, relevant affiliations, journal analysis, and citation analysis. In addition, the conceptual structure, including the co-occurrence network, thematic map, thematic evolution, intellectual structure highlighting co-citation analysis, and social structure depicting the collaboration network and collaboration world map, are presented. The results showed increased research on formulation strategies for the treatment of iron deficiency anemia from 2010 onwards. The top 5 contributing countries are the USA, Italy, India, Germany, and the UK, and peer-reviewed journals from the area of nutrition. The most trending areas of study are iron deficiency anemia in pregnancy, chronic kidney diseases, inflammatory bowel diseases, and various intravenous formulations used in its treatment. The authors from Europe collaborate the most with authors from other countries. The study concludes that a safer and more effective iron formulation is needed to reduce the prevalence of anemia. The findings of the study are helpful in advancing research on innovative formulations for treating iron deficiency anemia. The insights from the study are helpful to policymakers in designing specific health policies and investing more in research and development of novel formulations for the treatment of iron deficiency anemia.

10.
Cureus ; 16(4): e58236, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38623322

RESUMEN

Background Special needs children have various health problems, and the most common problems are nutritional deficiency and malnourishment which leads to increased morbidity affecting their quality of life. This study aims to assess the nutritional status and health-seeking behaviour of special needs children. Methods The study was conducted among 46 special needs children at a special needs children's home. After collecting basic sociodemographic details, they were assessed for nutritional status and health-seeking behaviour using a semi-structured questionnaire followed by general and clinical examination. Results Out of these 46 special needs children, 69.6% were male and 30.4% were female. The mean age was 11.69±4.62 years. In this study, 65.22% were underweight; 6.52% were overweight; 10.87% were obese I; 4.35% were obese III; 13.04% were normal. Among them, 37% seek Government healthcare facilities for their healthcare needs. Referral advice was provided to all required children. Conclusion A high proportion of the special needs children were screened positive for nutritional deficiency and malnourishment which needs to be addressed. Interventions should be aimed at correcting the nutritional deficiency and malnourishment by involving the caretakers, mainly mothers of these children.

11.
Dermatol Reports ; 16(1): 9717, 2024 Mar 12.
Artículo en Inglés | MEDLINE | ID: mdl-38623375

RESUMEN

Acne is a multifactorial and common disorder among young people and a frequent reason for dermatology consultation. When moderate-to-severe acne is not responsive to conventional treatments, oral isotretinoin is a very effective solution. However, there are cases in which this treatment fails to produce the expected results. In this case, an 18-year-old male patient with acne, unresponsive to traditional acne therapies, experienced only a partial benefit from oral isotretinoin. Endocrinology consultation and hormonal work-up revealed androgen metabolism anomalies suggestive of a non-classical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. In this case report, the authors discuss when to suspect, how to diagnose, and how to manage similar cases.

12.
JBMR Plus ; 8(5): ziae033, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38623484

RESUMEN

Vitamin D deficiency during infancy has been associated with increased bone turnover rate and bone mineral loss. However, few studies have examined bone turnover markers (BTMs) for both bone formation and resorption in infants with vitamin D deficiency. Here, we analyzed serum concentrations of 25OHD, intact parathormone (iPTH), and BTMs including total alkaline phosphatase (ALP), tartrate-resistant acid phosphatase isoform 5b (TRACP-5b), and serum type I collagen N-telopeptide (NTx) as well as basic clinical characteristics of 456 infants (626 samples) aged less than 12 mo born at Saitama City Hospital, Japan (latitude 35.9° North) between January 2021 and December 2022. One hundred sixteen infants (147 samples) were classified as having vitamin D deficiency (25OHD < 12.0 ng/mL), and 340 infants (479 samples) had sufficient vitamin D levels (25OHD ≥ 12.0 ng/mL). In addition to 25OHD and ALP, both TRACP-5b and sNTx were measured in 331 infants (418 samples), while 90 infants (105 samples) had only TRACP-5b measured and 101 infants (103 samples) had only sNTx measured. Statistical comparison of 104 subjects each in the vitamin D deficiency and sufficiency groups after matching for the background characteristics revealed that the vitamin D deficiency group had significantly higher levels of ALP and iPTH compared with the sufficiency group (P = <.0001, .0012, respectively). However, no significant differences were found in TRACP-5b and NTx levels between the 2 groups (P = .19, .08, respectively). Our findings suggest discordant responses between bone formation and resorption markers in subclinical vitamin D deficiency during infancy.

13.
Trials ; 25(1): 270, 2024 Apr 19.
Artículo en Inglés | MEDLINE | ID: mdl-38641845

RESUMEN

BACKGROUND: The World Health Organization recommends universal iron supplementation for children aged 6-23 months in countries where anaemia is seen in over 40% of the population. Conventional ferrous salts have low efficacy due to low oral absorption in children with inflammation. Haem iron is more bioavailable, and its absorption may not be decreased by inflammation. This study aims to compare daily supplementation with haem iron versus ferrous sulphate on haemoglobin concentration and serum ferritin concentration after 12 weeks of supplementation. METHODS: This will be a two-arm, randomised controlled trial. Gambian children aged 6-12 months with anaemia will be recruited within a predefined geographical area and recruited by trained field workers. Eligible participants will be individually randomised using a 1:1 ratio within permuted blocks to daily supplementation for 12 weeks with either 10.0 mg of elemental iron as haem or ferrous sulphate. Safety outcomes such as diarrhoea and infection-related adverse events will be assessed daily by the clinical team (see Bah et al. Additional file 4_Adverse event eCRF). Linear regression will be used to analyse continuous outcomes, with log transformation to normalise residuals as needed. Binary outcomes will be analysed by binomial regression or logistic regression, Primary analysis will be by modified intention-to-treat (i.e., those randomised and who ingested at least one supplement dose of iron), with multiple imputations to replace missing data. Effect estimates will be adjusted for baseline covariates (C-reactive protein, alpha-1-acid glycoprotein, haemoglobin, ferritin, soluble transferrin receptor). DISCUSSION: This study will determine if therapeutic supplementation with haem iron is more efficacious than with conventional ferrous sulphate in enhancing haemoglobin and ferritin concentrations in anaemic children aged 6-12 months. TRIAL REGISTRATION: Pan African Clinical Trial Registry PACTR202210523178727.


Asunto(s)
Anemia Ferropénica , Anemia , Niño , Humanos , Hierro , Anemia Ferropénica/diagnóstico , Anemia Ferropénica/tratamiento farmacológico , Sales (Química)/metabolismo , Sales (Química)/uso terapéutico , Gambia , Compuestos Ferrosos/efectos adversos , Ferritinas , Anemia/tratamiento farmacológico , Hemoglobinas/metabolismo , Suplementos Dietéticos , Inflamación/tratamiento farmacológico , Hemo/metabolismo , Hemo/uso terapéutico , Ensayos Clínicos Controlados Aleatorios como Asunto
14.
West Afr J Med ; 41(2): 209-214, 2024 Feb 29.
Artículo en Inglés | MEDLINE | ID: mdl-38583094

RESUMEN

BACKGROUND: Peripartum cardiomyopathy (PPCM) is a multifactorial disease. Although the specific aetiology and pathogenesis of PPCM are unknown, several hypotheses have been proposed, including selenium deficiency. However, the risk of PPCM from selenium deficiency was not previously quantified. This posthoc analysis of peripartum cardiomyopathy in Nigeria (PEACE) registry data aimed to determine if selenium deficiency is an independent risk factor for PPCM. METHODS: Apparently healthy women who delivered within the previous 8 weeks and PPCM patients in Kano, Nigeria, were compared for selenium deficiency (<70µg/L) and other relevant socio-demographic and clinical characteristics. Selenium level was measured at recruitment for each subject. Independent predictors of PPCM were determined using logistic regression models. RESULTS: 159 PPCM patients and 90 age-matched controls were consecutively recruited. 84.9% of the patients and 3.3% of controls had selenium deficiency. Selenium deficiency independently increased the odds for PPCM by 167-fold while both unemployment and lack of formal education independently increased the odds by 3.4-fold. CONCLUSION: Selenium deficiency was highly prevalent among PPCM patients in Kano, Nigeria, and significantly increased the odds for PPCM. These results could justify screening of women in their reproductive years for selenium deficiency, particularly those living in regions with high incidence of PPCM. The results also call for the setting up of a definitive clinical trial of selenium supplementation in PPCM patients with selenium deficiency, to further define its benefits in the treatment of PPCM.


CONTEXTE: La cardiomyopathie péripartum (CMPP) est une maladie multifactorielle. Bien que l'étiologie spécifique et la pathogenèse de la CMPP soient inconnues, plusieurs hypothèses ont été proposées, notamment la carence en sélénium. Cependant, le risque de CMPP lié à la carence en sélénium n'a pas été précédemment quantifié. Cette analyse post-hoc des données du registre de la cardiomyopathie péripartum au Nigéria (PEACE) visait à déterminer si la carence en sélénium est un facteur de risque indépendant de la CMPP. MÉTHODES: Des femmes apparemment en bonne santé ayant accouché dans les 8 semaines précédentes et des patientes atteintes de CMPP à Kano, au Nigéria, ont été comparées pour la carence en sélénium (<70µg/L) et d'autres caractéristiques socio-démographiques et cliniques pertinentes. Le taux de sélénium a été mesuré au recrutement pour chaque sujet. Les prédicteurs indépendants de la CMPP ont été déterminés à l'aide de modèles de régression logistique. RÉSULTATS: 159 patientes atteintes de CMPP et 90 témoins appariés selon l'âge ont été recrutés consécutivement. 84,9% des patientes et 3,3% des témoins présentaient une carence en sélénium. La carence en sélénium augmentait indépendamment les chances de CMPP de 167 fois, tandis que le chômage et le manque d'éducation formelle augmentaient indépendamment les chances de 3,4 fois. CONCLUSION: La carence en sélénium était très répandue parmi les patientes atteintes de CMPP à Kano, au Nigéria, et augmentait significativement les chances de CMPP. Ces résultats pourraient justifier le dépistage de la carence en sélénium chez les femmes en âge de procréer, en particulier celles vivant dans des régions à forte incidence de CMPP. Les résultats appellent également à la mise en place d'un essai clinique définitif sur la supplémentation en sélénium chez les patientes atteintes de CMPP présentant une carence en sélénium, afin de définir davantage ses avantages dans le traitement de la CMPP. MOTS-CLÉS: Cardiomyopathie Péripartum; Carence en Sélénium; Facteur de Risque.


Asunto(s)
Cardiomiopatías , Desnutrición , Selenio , Humanos , Femenino , Periodo Periparto , Nigeria/epidemiología , Factores de Riesgo , Cardiomiopatías/epidemiología , Cardiomiopatías/etiología
15.
Sci Rep ; 14(1): 8206, 2024 04 08.
Artículo en Inglés | MEDLINE | ID: mdl-38589451

RESUMEN

The primary objective of this study was to evaluate the prevalence of low femoral and lumbar spine bone mineral density (BMD) in adults with arthrogryposis multiplex congenita (AMC). We performed a retrospective cohort analysis of adults with AMC who were enrolled in the French Reference Center for AMC and in the Pediatric and Adult Registry for Arthrogryposis (PARART, NCT05673265). Patients who had undergone dual-energy X-ray absorptiometry (DXA) and/or vitamin D testing were included in the analysis. Fifty-one patients (mean age, 32.9 ± 12.6 years) were included; 46 had undergone DXA. Thirty-two (32/51, 62.7%) patients had Amyoplasia, and 19 (19/51, 37.3%) had other types of AMC (18 distal arthrogryposis, 1 Larsen). Six patients (6/42, 14.3%) had a lumbar BMD Z score less than - 2. The mean lumbar spine Z score (- 0.03 ± 1.6) was not significantly lower than the expected BMD Z score in the general population. Nine (9/40, 22.5%) and 10 (10/40, 25.0%) patients had femoral neck and total hip BMD Z scores less than - 2, respectively. The mean femoral neck (- 1.1 ± 1.1) and total hip (- 1.2 ± 1.2) BMD Z scores in patients with AMC were significantly lower than expected in the general population (p < 0.001). Femoral neck BMD correlated with height (rs = 0.39, p = 0.01), age (rs = - 0.315, p = 0.48); total hip BMD correlated with height (rs = 0.331, p = 0.04) and calcium levels (rs = 0.41, p = 0.04). Twenty-five patients (25/51, 49.0%) reported 39 fractures. Thirty-one (31/36, 86.1%) patients had 25-hydroxyvitamin D levels less than 75 nmol/l, and 6 (6/36, 16.7%) had 25-hydroxyvitamin D levels less than 75 nmol/l. Adults with AMC had lower hip BMD than expected for their age, and they more frequently showed vitamin D insufficiency. Screening for low BMD by DXA and adding vitamin D supplementation when vitamin D status is insufficient should be considered in adults with AMC, especially if there is a history of falls or fractures.


Asunto(s)
Anomalías Múltiples , Artrogriposis , Adulto , Humanos , Persona de Mediana Edad , Adulto Joven , Absorciometría de Fotón , Densidad Ósea , Estudios Retrospectivos , Vitamina D
16.
World J Clin Pediatr ; 13(1): 86693, 2024 Mar 09.
Artículo en Inglés | MEDLINE | ID: mdl-38596439

RESUMEN

BACKGROUND: Vitamin D deficiency is a common problem in exclusively breastfed infants, with supplementation recommended by various international medical organizations. However, in Thailand, no advice for routine vitamin D supplementation is available. Thus, this study investigated the prevalence of vitamin D deficiency and its associated factors in exclusively breastfed infants in Bangkok, Thailand. AIM: To investigated the prevalence of vitamin D deficiency and its associated factors in exclusively breastfed infants in Bangkok, Thailand. METHODS: This descriptive observational cross-sectional study assessed 109 4-month-old infants at Charoenkrung Pracharak Hospital from May 2020 to April 2021. The 25-OH vitamin D level of the infants was measured using an electrochemiluminescence binding assay. Vitamin D deficiency was defined as 25-OH level < 20 ng/mL, with vitamin D insufficiency 20-30 ng/mL. The sun index and maternal vitamin D supplementation data were collected and analyzed using the independent t-test, univariate logistic regression, and multivariate logistic regression to identify the associated factors. RESULTS: The prevalences of vitamin D deficiency and vitamin D insufficiency were 35.78% and 33.03%, respectively with mean serum 25-OH vitamin D levels in these two groups 14.37 ± 3.36 and 24.44 ± 3.29 ng/mL. Multivariate logistic regression showed that the main factors associated with vitamin D status were maternal vitamin D supplementation and birth weight, with crude odds ratios 0.26 (0.08-0.82) and 0.08 (0.01-0.45), respectively. The sun index showed no correlation with the 25-OH vitamin D level in exclusively breastfed infants (r = -0.002, P = 0.984). CONCLUSION: Two-thirds of healthy exclusively breastfed infants had hypovitaminosis D. Vitamin D supplementation prevented this condition and was recommended for both lactating women and their babies.

17.
World J Clin Pediatr ; 13(1): 89318, 2024 Mar 09.
Artículo en Inglés | MEDLINE | ID: mdl-38596440

RESUMEN

BACKGROUND: Screening for iron deficiency anemia (IDA) is important in managing pediatric patients with inflammatory bowel disease (IBD). Concerns related to adverse reactions may contribute to a reluctance to prescribe intravenous (IV) iron to treat IDA in this population. AIM: To track the efficacy and safety of IV iron therapy in treating IDA in pediatric IBD patients admitted to our center. METHODS: A longitudinal observational cohort study was performed on 236 consecutive pediatric patients admitted to our tertiary IBD care center between September 2017 and December 2019. 92 patients met study criteria for IDA, of which 57 received IV iron, 17 received oral iron, and 18 were discharged prior to receiving iron therapy. RESULTS: Patients treated with IV iron during their hospitalization experienced a significant increase of 1.9 (± 0.2) g/dL in mean (± SE) hemoglobin (Hb) concentration by the first ambulatory follow-up, compared to patients who received oral iron 0.8 (± 0.3) g/dL or no iron 0.8 (± 0.3) g/dL (P = 0.03). One out of 57 (1.8%) patients that received IV iron therapy experienced an adverse reaction. CONCLUSION: Our findings demonstrate that treatment with IV iron therapy is safe and efficacious in improving Hb and iron levels in pediatric patients with IDA and active IBD.

18.
Hematol Transfus Cell Ther ; 46 Suppl 1: S67-S71, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38604928

RESUMEN

Anemia is a pathological condition in which the hemoglobin and red blood cell mass decrease; it is mainly defined by the concentration of hemoglobin in the blood. The World Health Organization guidelines establish specific values to define anemia in different population groups. Early detection of anemia can also be a valuable indicator of underlying medical conditions. Clinical studies have explored the relationship between perioperative anemia and morbidity, highlighting the need for more judicious therapeutic strategies, such as the use of Patient Blood Management, which aims to prevent and treat anemia in a personalized and effective way. Patient Blood Management emerges as a promising approach to dealing with anemia, recognizing that its correction through transfusion always carries risks and that personalized prevention and treatment can offer better outcomes for patients.

19.
Cancer Immunol Immunother ; 73(5): 95, 2024 Apr 12.
Artículo en Inglés | MEDLINE | ID: mdl-38607586

RESUMEN

BACKGROUND: Homologous recombination deficiency (HRD), though largely uncharacterized in clear cell renal cell carcinoma (ccRCC), was found associated with RAD51 loss of expression. PBRM1 is the second most common mutated genes in ccRCC. Here, we introduce a HRD function-based PBRM1-RAD51 ccRCC classification endowed with diverse immune checkpoint blockade (ICB) responses. METHODS: Totally 1542 patients from four independent cohorts were enrolled, including our localized Zhongshan hospital (ZSHS) cohort and Zhongshan hospital metastatic RCC (ZSHS-mRCC) cohort, The Cancer Genome Atlas (TCGA) cohort and CheckMate cohort. The genomic profile and immune microenvironment were depicted by genomic, transcriptome data and immunohistochemistry. RESULTS: We observed that PBRM1-loss ccRCC harbored enriched HRD-associated mutational signature 3 and loss of RAD51. Dual-loss of PBRM1 and RAD51 identified patients hyper-sensitive to immunotherapy. This dual-loss subtype was featured by M1 macrophage infiltration. Dual-loss was, albeit homologous recombination defective, with high chromosomal stability. CONCLUSIONS: PBRM1 and RAD51 dual-loss ccRCC indicates superior responses to immunotherapy. Dual-loss ccRCC harbors an immune-desert microenvironment but enriched with M1 macrophages. Dual-loss ccRCC is susceptible to defective homologous recombination but possesses high chromosomal stability.


Asunto(s)
Carcinoma de Células Renales , Carcinoma , Neoplasias Renales , Humanos , Carcinoma de Células Renales/genética , Carcinoma de Células Renales/terapia , Inmunoterapia , Neoplasias Renales/genética , Neoplasias Renales/terapia , Inestabilidad Cromosómica , Microambiente Tumoral , Recombinasa Rad51 , Proteínas de Unión al ADN/genética , Factores de Transcripción/genética
20.
Poult Sci ; 103(6): 103641, 2024 Mar 14.
Artículo en Inglés | MEDLINE | ID: mdl-38626692

RESUMEN

Bisphenol A (BPA), which is commonly found in the environment due to its release from the use of plastics and food overpacks, has become a major stressor for environmental sustainability and livestock and poultry farming health. Selenium (Se) deficiency causes structural damage and inflammatory responses to the digestive system and muscle tissue, and there is a potential for concurrent space-time exposure to nutritional deficiency diseases and environmental toxicants in livestock and poultry. The mechanisms of damage to chicken muscular stomach from BPA or/and Se deficiency treatment are still not known. Here, we established a chicken model of BPA (20 mg/kg) or/and Se deficiency (0.039 mg/kg) exposure, and detected histopathological changes in the muscular stomach tissue, the levels of iNOS/NO pathway, IL-6/JAK/STAT3 pathway, pyroptosis, and myogenic differentiation by H&E staining, immunofluorescence staining, real-time quantitative PCR, and western blot methods. The data revealed that BPA or Se deficiency exposure caused gaps between muscle fibers with inflammatory cell infiltration; up-regulation of the iNOS/NO pathway and IL-6/JAK/STAT3 pathway; up-regulation of NLRP3/Caspase-1-dependent pyroptosis related genes; down-regulation of muscle-forming differentiation (MyoD, MyoG, and MyHC) genes. The combination of BPA and Se deficiency was associated with higher toxic impairment than alone exposure. In conclusion, we discovered that BPA and Se deficiency caused myogastric pyroptosis and myogenic differentiation disorder. These findings provide a theoretical basis for the co-occurrence of animal nutritional deficiency diseases and environmental toxicant exposures in livestock and poultry farming, and may provide important insights into limiting the production of harmful substances.

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