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1.
Mod Rheumatol ; 2024 Aug 08.
Artículo en Inglés | MEDLINE | ID: mdl-39116021

RESUMEN

OBJECTIVES: Impact of osteoarthritis (OA) on the initial treatment response of rheumatoid arthritis (RA) by treat to target (T2T) practice was compared between the patients with an onset age ≥65 years old (late-onset RA [LORA]) and those with an onset age <65 years old (young-onset RA [YORA]). METHODS: A retrospective study was conducted on the patients with RA, who were referred to our clinic without treatment between January 2021 and July 2022. Patients with grade ≥3 OA according to the Kellgren-Lawrence (K-L) classification either in the knee or hand were classified in the OA(+) group and others were in the OA(-) group. The clinical data were compared at the diagnosis and one year after the initial treatment between the groups for 74 LORA and 59 YORA patients, respectively. RESULTS: One year after starting treatment in the LORA patients, the OA(+) group had poorer disease activity control and greater disability in the several activities of daily living (ADL) than the OA(-) group. In the YORA patients, there were no differences in ADL disability between the groups. CONCLUSIONS: In the initial treatment of the LORA patients, the prevalence of OA was high, and impact of OA on LORA was larger than on YORA.

4.
Am J Ophthalmol Case Rep ; 36: 102112, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-39149616

RESUMEN

Purpose: Describe the clinical features and management of this uncommon case of late-onset Capsular bag distension syndrome that occurred 33 years after cataract surgery. Observation: An 87-year-old male was referred to our clinic complaining of blurred and gradual, painless reduction in vision in his left eye over the past year. A complete ophthalmological examination, Ultrasound biomicroscopy (UBM), anterior segment optical coherence tomography (AS-OCT), and optical biometry were performed to confirm the diagnosis. A 25-gauge pars plana vitrectomy combined with posterior capsulotomy was performed. The aspirated fluid was sent for microbiological analyses. After surgery, the patient's visual acuity returned to previous values, and anterior chamber depth slightly deepened. Samples taken were negative for bacteria. Conclusions and Importance: Late-onset Capsular bag distension syndrome may occur up to 33 years following cataract surgery. A surgical approach offers the advantage of complete clearance of the turbid fluid, also removing the residual cortical material and enabling microbial and pathological testing.

5.
Eur J Neurol ; : e16432, 2024 Aug 16.
Artículo en Inglés | MEDLINE | ID: mdl-39150239

RESUMEN

BACKGROUND AND PURPOSE: Our objective was to define phenotypes of non-lesional late-onset epilepsy (NLLOE) depending on its presumed aetiology and to determine their seizure and cognitive outcomes at 12 months. METHODS: In all, 146 newly diagnosed NLLOE patients, >50 years old, were prospectively included and categorized by four presumed aetiological subtypes: neurodegenerative subtype (patients with a diagnosis of neurodegenerative disease) (n = 31), microvascular subtype (patients with three or more cardiovascular risk factors and two or more vascular lesions on MRI) (n = 39), inflammatory subtype (patient meeting international criteria for encephalitis) (n = 9) and unlabelled subtype (all individuals who did not meet the criteria for other subtypes) (n = 67). Cognitive outcome was determined by comparing for each patient the proportion of preserved/altered scores between initial and second neuropsychological assessment. RESULTS: The neurodegenerative subtype had the most severe cognitive profile at diagnosis with cognitive complaint dating back several years. The microvascular subtype was mainly evaluated through the neurovascular emergency pathway. Their seizures were characterized by transient phasic disorders. Inflammatory subtype patients were the youngest. They presented an acute epilepsy onset with high rate of focal status epilepticus. The unlabelled subtype presented fewer comorbidities with fewer lesions on brain imaging. The neurodegenerative subtype had the worst seizure and cognitive outcomes. In other groups, seizure control was good under antiseizure medication (94.7% seizure-free) and cognitive performance was stabilized or even improved. CONCLUSION: This new characterization of NLLOE phenotypes raises questions regarding the current International League Against Epilepsy aetiological classification which does not individualize neurodegenerative and microvascular aetiology per se.

6.
Front Genet ; 15: 1410381, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39139823

RESUMEN

Spastic paraplegia type 4 (SPG4), the predominant form of Autosomal Dominant Hereditary spastic paraplegia (AD-HSP), is characterized by variants in the SPAST gene. This study reports a unique case of a late-onset SPG4 in a Han Chinese male, manifesting primarily as gait disturbances from lower extremity spasticity. Uncovered through whole-genome sequencing, a previously undocumented frameshift variant, c.1545dupA in exon 14 of the SPAST gene, was identified. Notably, this variant was absent in asymptomatic parents with confirmed paternity and maternity status, suggesting a de novo variant occurrence. This discovery emphasizes the potential of de novo variants to exhibit a late-onset pure pattern, extending the SPG4 variant spectrum, and consideration of such variants should be given in HSP patients with a negative family history.

7.
Brain Dev ; 2024 Aug 13.
Artículo en Inglés | MEDLINE | ID: mdl-39142946

RESUMEN

BACKGROUND: There have been few descriptions in the literature on long-term enzyme replacement therapy (ERT) in patients with advanced late-onset Pompe disease (LOPD). OBJECTIVES: This study aimed to assess the efficacy and limitations of ERT in advanced LOPD patients. METHODS: We retrospectively reviewed the clinical courses of patients with advanced LOPD (two juvenile-onset and five adult-onset patients) who were treated with recombinant human alglucosidase alfa to examine improvements achieved with and limitations of ERT until their death or when switching to avalglucosidase alfa occurred. RESULTS: All patients were non-ambulant and ventilator dependent. The duration of follow-up ranged from 3.7 to 15.0 years (median 9.0 years). All patients reported improvements in their lives during the first two or three years of ERT. Vital capacity was clearly improved in patients with relatively spared respiratory function, although it deteriorated after respiratory complications such as pneumothorax. Pinch and grip power tended to be preserved during the treatment period. Muscle CT revealed progression of atrophy and fatty replacement predominantly in the proximal limb muscles without improvement after ERT. Four patients died due to aspergillosis, respiratory failure, ileus, and sudden death of unknown cause. CONCLUSIONS: Our findings demonstrate that patients undergoing ERT show certain improvements, even in the advanced stage of Pompe disease. Respiratory complications are lethal even during ERT, and early diagnosis and induction of therapy are critical. Muscle wasting progressed more severely in the proximal limbs, even after ERT.

8.
Musculoskeletal Care ; 22(3): e1928, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39152548

RESUMEN

INTRODUCTION: Rheumatoid arthritis (RA) patients can be divided according to the age of disease onset and classified as late-onset RA ≥ 60 years old or early-onset RA < 60 years old. Current treatment guidelines do not stipulate any preference regarding the biologic that should be used first in the late-onset group. This study aims to compare the drug survival times on first biological treatment between late and early-onset RA patients. METHODS: This is a population based cohort study using the medical records of Leumit healthcare services. We included all eligible RA patients between 2000 and 2017. RA patients were divided into late- and early-onset RA groups and compared according to drug survival time on the first biological therapy. RESULTS: The final cohort included 3814 RA patients, 2807 (73.6%) of whom had early-onset RA. Overall, biologic disease-modifying anti-rheumatic drugs (bDMARDs) were used more often among early-onset compared to late-onset patients (16.9% vs. 7.8%, p < 0.001). Among early-onset patients, etanercept was associated with the longest drug survival time on the first biologic, and adalimumab and infliximab were associated with the longest drug survival times among late-onset patients. No differences were observed in drug survival times between late and early-onset patients on the first bDMARD, except for abatacept and golimumab with longer drug survival time among early-onset patients. CONCLUSION: Late-onset RA patients were treated with biologics to a lesser extent than early-onset patients, but no differences were observed in drug survival times at the first bDMARD between the two groups.


Asunto(s)
Edad de Inicio , Antirreumáticos , Artritis Reumatoide , Productos Biológicos , Humanos , Artritis Reumatoide/tratamiento farmacológico , Persona de Mediana Edad , Masculino , Femenino , Antirreumáticos/uso terapéutico , Estudios de Cohortes , Anciano , Productos Biológicos/uso terapéutico , Adulto
9.
Cytotherapy ; 2024 Aug 03.
Artículo en Inglés | MEDLINE | ID: mdl-39152952

RESUMEN

BACKGROUND AIMS: Mounting evidence suggests that persistent cell expansion is the main driver for both efficacy and toxicity of chimeric antigen receptor (CAR) T-cell therapy. Hereby, we describe a case of delayed recurrent neurotoxicity associated with late CAR T-cells re-expansion. CASE DESCRIPTION: A 44-year-old man suffering from mantle cell lymphoma received brexu-cel. After infusion, he developed grade 2 cytokine release syndrome. On day +11, grade 3 neurotoxicity was reported and high-dose methylprednisolone was started with a complete resolution of neurological manifestations. On day +30, he experienced a late-onset CAR T-cell toxicity associated with CAR T-cell re-expansion. The patient was treated with tocilizumab and dexamethasone, with resolution of symptoms. On day +58, he was readmitted for new onset of neurotoxicity. Notably, a new CAR T-cell expansion was observed, with an unexpectedly elevated cerebrospinal fluid/blood ratio. The patient was promptly treated with dexamethasone and then escalated to high-dose methylprednisolone and anakinra, with resolution of his neurologic condition noted. CONCLUSIONS: CAR T-cell-related neurotoxicity usually has an early monophasic course. To our knowledge, this is the first case of late-onset, recurrent neurotoxicity. Moreover, an elevated level of cerebrospinal fluid CAR T cells was observed, which may suggest that the delayed neurotoxicity was primarily caused by the brain infiltration of CAR T cells rather than driven by cytokine-mediated neuroinflammation.

10.
Artículo en Ruso | MEDLINE | ID: mdl-39113441

RESUMEN

This review focuses on late-onset schizophrenia and schizophrenia-like psychosis with very late onset (VLOSLP) with focus on their psychopathologic, neuropsychologic, and neurobiologic aspects. A literature review on late-onset schizophrenia and VLOSLP was conducted based on publications from PubMed, Scopus, and Google Scholar databases up to December 2023. It may be noted that research into schizophrenia has largely focused on early-onset patients, and research into the mental health of older people has focused primarily on dementia and depression, with relatively little information on late-onset schizophrenia and VLOSLP. The nosology of late-onset functional psychoses is still poorly understood. There is currently no consensus on the diagnostic framework for psychosis labeled by the term VLOSLP. These deficiencies need to be addressed in order to understand the background of VLOSLP, the course and prognosis of the illness, and to develop successful management and treatment strategies for these patients, as older adults are more susceptible to the adverse effects of psychotropic medications. Therapy should be holistic, including not only medication but also psychotherapy, and the key role of caregivers of elderly schizophrenia patients should be taken into account. There should be judicious use of pharmacotherapy with an assessment of its risks and benefits.


Asunto(s)
Edad de Inicio , Trastornos Psicóticos , Esquizofrenia , Humanos , Esquizofrenia/diagnóstico , Esquizofrenia/tratamiento farmacológico , Trastornos Psicóticos/diagnóstico , Trastornos Psicóticos/etiología , Anciano , Pronóstico , Antipsicóticos/uso terapéutico , Psicología del Esquizofrénico
11.
Clin Immunol ; 266: 110335, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39098705

RESUMEN

More frequent among adults, phenocopies may be caused by somatic mutations or anti-cytokine autoantibodies, mimicking the phenotypes of primary immunodeficiencies. A fourteen-year-old girl was referred for a two-year history of weight loss and multiple recurrent abscesses, complicated recurrent pneumonia, pyelonephritis, osteomyelitis, and septic shock, without fever. She had started with nausea, hyporexia, and weight loss, then with abscesses in her hands, knee, ankle, and spleen. She also developed a rib fracture and left thoracic herpes zoster. The patient was cachectic, with normal vital signs, bilateral crackles on chest auscultation, tumefaction of the knee joint, and poorly healed wounds in hands and chest, oozing a yellowish fluid. Chest computed tomography revealed multiple bilateral bronchiectases. Laboratory workup reported chronic anemia, leukocytosis, neutrophilia, mild lymphopenia, thrombocytosis, pan-hypergammaglobulinemia, and elevated acute serum reactants. Lymphocyte subsets were low but present. Mycobacterium tuberculosis was detected via polymerase chain reaction in a bone biopsy specimen from ankle osteomyelitis. Whole-exome sequencing failed to identify a monogenic defect. Interleukin-12 was found markedly elevated in the serum of the patient. Phosphorylation of STAT4, induced by increasing doses of IL-12, was neutralized by patient serum, confirming the presence of anti-IL12 autoantibodies. IL-12 and IL-23 are crucial cytokines in the defense against intracellular microorganisms, the induction of interferon-gamma production by lymphocytes, and other inflammatory functions. Patients who develop neutralizing serum autoantibodies against IL12 manifest late in life with weight loss, multiple recurrent abscesses, poor wound healing, and fistulae. Treatment with anti-CD20 monoclonal antibodies was effective.


Asunto(s)
Absceso , Autoanticuerpos , Humanos , Femenino , Autoanticuerpos/inmunología , Autoanticuerpos/sangre , Adolescente , Absceso/inmunología , Subunidad p40 de la Interleucina-12/inmunología , Recurrencia , Osteomielitis/inmunología
12.
Reprod Sci ; 2024 Aug 12.
Artículo en Inglés | MEDLINE | ID: mdl-39134923

RESUMEN

This study aimed to explore the different characteristics between early-onset severe preeclampsia (ESPE) and late-onset severe preeclampsia (LSPE) to improve pregnancy outcomes. We performed a retrospective cohort study between January 2016 and December 2021. Eligible hospitalized pregnant women with severe preeclampsia were assigned into the early-onset or late-onset group, depending on the gestational age at the time of severe preeclampsia onset (< or ≥ 34 gestational weeks, respectively). The clinical characteristics, laboratory results, maternal complications, and fetal and neonatal outcomes were recorded and compared between the two groups. A total of 1,238 pregnant women were included, with 525 in the early-onset group and 713 in the late-onset group. The late-onset group had more cases of gestational diabetes, whereas the early-onset group had a higher blood pressure, showed more proteinuria, had more liver and renal damage, exhibited more serious adverse maternal, fetal, and neonatal outcomes, was more likely to be admitted to the intensive care unit, and required longer hospital stays (all P < 0.05). In addition, the early-onset group had fewer prenatal care appointments and was more often transferred from a primary or secondary care hospital. The logistic regression analysis showed that a weekly weight gain of > 100 g was a risk factor for ESPE and that fewer prenatal care appointments were a risk factor for ESPE in pregnant women with female fetuses. Moreover, logistic regression analysis indicated that nulliparity and gestational diabetes during the current pregnancy were risk factors for LSPE. In conclusion, compared with the women with LSPE, those with ESPE usually had worse maternal, fetal, and neonatal outcomes. More frequent prenatal screening and care should be provided for pregnant women with high-risk factors.

13.
Eur J Ophthalmol ; : 11206721241273977, 2024 Aug 07.
Artículo en Inglés | MEDLINE | ID: mdl-39109648

RESUMEN

PURPOSE: To compare modified viscotrabeculotomy (VCO-Tbo) to modified trabeculotomy (Tbo) in late-onset primary congenital, juvenile open-angle, steroid-induced, and pigmentary glaucoma. METHODS: Patients were randomly assigned to VCO-Tbo and Tbo groups in this study. Intraocular pressure (IOP), antiglaucoma medications, and success/failure rates were assessed. A linear mixed model was used to compare the change trend at different follow-up times. Survival time was evaluated using the Kaplan-Meier graph and Log-Rank test. RESULTS: The mean IOP at 1, 3, and 12 months in the VCO-Tbo group was 14.1 ± 3.1, 15.9 ± 3 and 17 ± 3.1 mmHg, respectively. The mean IOP at the same time points in the Tbo group was 15.9 ± 3.3, 17.6 ± 3.5 and 18.4 ± 3.2 mmHg (P = 0.051, 0.058, 0.088, respectively). The VCO-Tbo group had significantly lower IOP after six months (16.5 ± 4.1 mmHg vs. 18.7 ± 3.8 mmHg; p = 0.031) and by the last visit (16.8 ± 2.1 mmHg vs. 18.8 ± 2 mmHg; p = 0.013). The reduction in the number of medications was significant in both groups compared to baseline (P < 0.001), but there was no significant difference between groups (P = 0.450). The complete and qualified success rate was 43.9% and 34.1% in the VCO-Tbo group and 46.8% and 10.6% in the Tbo group at the final follow-up (p = 0.040, and 0.039, respectively). CONCLUSION: Both procedures are effective in IOP and medication reduction. The survival time and efficacy of modified trabeculotomy can be augmented by injecting cohesive viscoelastic in the Schlemm's canal.

14.
Eur J Neurol ; : e16428, 2024 Aug 07.
Artículo en Inglés | MEDLINE | ID: mdl-39109844

RESUMEN

BACKGROUND AND PURPOSE: Late onset Pompe disease (LOPD) is a rare neuromuscular disorder caused by a deficit in acid alpha-glucosidase. Macroglossia and swallowing disorders have already been reported, but no study has focused yet on its frequency and functional impact on patients' daily life. METHODS: We reviewed 100 adult LOPD patients followed in 17 hospitals in France included in the French national Pompe disease registry. The Swallowing Quality of Life Questionnaire and the Sydney Swallow Questionnaire were completed by patients, and a specialist carried out a medical examination focused on swallowing and assigned a Salassa score to each patient. Respiratory and motor functions were also recorded. Subgroup analysis compared patients with and without swallowing difficulties based on Salassa score. RESULTS: Thirty-two percent of patients presented with swallowing difficulties, often mild but sometimes severe enough to require percutaneous endoscopic gastrostomy (1%). Daily dysphagia was reported for 20% of our patients and aspirations for 18%; 9.5% were unable to eat away from home. Macroglossia was described in 18% of our patients, and 11% had lingual atrophy. Only 15% of patients presenting with swallowing disorders were followed by a speech therapist. Swallowing difficulties were significantly associated with macroglossia (p = 0.015), longer duration of illness (p = 0.032), and a lower body mass index (p = 0.047). CONCLUSIONS: Swallowing difficulties in LOPD are common and have significant functional impact. Increased awareness by physicians of these symptoms with systematic examination of the tongue and questions about swallowing can lead to appropriate multidisciplinary care with a speech therapist and dietitian if needed.

15.
Neuropsychol Rehabil ; : 1-25, 2024 Aug 12.
Artículo en Inglés | MEDLINE | ID: mdl-39133526

RESUMEN

People with transient epileptic amnesia (TEA) experience deficits in memory, however, little is known about their everyday experience of this, and no memory intervention studies have been conducted within this group. Using a two-part qualitative method, this study explored the lived experience of people with TEA and possible avenues for memory intervention. Fourteen people with TEA participated in either a focus group (n = 7) or an online survey (n = 7) to answer questions regarding their memory difficulties, impact on their lives, and strategies to mitigate these problems. Perceived barriers and facilitators to participating in a group memory intervention program were discussed. Thematic content analysis identified key themes regarding impacts on the individual and their relationships. Although some positive outcomes regarding family support and personal acceptance were described, most participants described negative impacts on relationships and mood. A range of strategies to mitigate memory problems were reported, although some people did not use any. Participants identified practical and socio-emotional advantages to memory intervention, with perceived barriers around individual applicability, preferences, and ability to engage. While individual preferences need to be considered, a group-based memory intervention may help address cognitive and mental health concerns, particularly for those newly diagnosed with TEA.

16.
Parkinsonism Relat Disord ; 126: 107058, 2024 Jul 07.
Artículo en Inglés | MEDLINE | ID: mdl-39067321

RESUMEN

BACKGROUND: Parkinson's disease (PD) is more common in men than women. Although hormonal factors may partially explain this difference, there are no studies evaluating reproductive life factors and exogenous estroprogestin exposure in women with Early Onset Parkinson Disease (EOPD). OBJECTIVE: To compare reproductive life factors and exogenous estroprogestin exposure among female patients with EOPD, late-onset Parkinson's disease (LOPD), and EOPD-matched unaffected controls. METHODS: We identified female patients with EOPD from 1989 to 2021, defining EOPD as PD with motor-symptoms onset before age 50 and LOPD as PD with motor onset after 50. We paired EOPD patients to age-matched, unaffected controls. We reviewed medical records to determine demographic characteristics, clinical history, and reported reproductive menopausal history (reviewing medical records). RESULTS: We included 87 EOPD patients, 84 LOPD patients, and 91 unaffected controls with information about reproductive life factors and exogenous estroprogestin exposure in their medical records. There were no significant differences in race, ethnicity, or BMI between the three groups. EOPD patients were more likely to have used hormonal contraception than LOPD patients (23/49 (47 %) vs 0/84 (0 %), p < 0.001). LOPD patients had higher numbers of pelvic surgeries (48/84 [57 %] in LOPD, 23/87 [26 %] in EOPD, p < 0.001) and higher usage of perimenopausal hormonal therapy (52/84 [62 %] in LOPD, 10/87 [11 %] in EOPD, p < 0.001) in LOPD than EOPD. CONCLUSIONS: Our study reports no significant difference in reproductive life factors and exogenous estroprogestin exposure between controls and EOPD patients, except for higher exposure to hormonal contraception in EOPD. There was no apparent difference in reproductive life factors and exogenous estroprogestin exposure between EOPD and LOPD patients. Our findings therefore do not observe that hormonal exposure is different between earlier onset of female EOPD compared to female LOPD patients, or between female EOPD patients and unaffected female controls.

17.
J Clin Med ; 13(13)2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38999445

RESUMEN

Background: Alzheimer's disease (AD) and epilepsy represent two complex neurological disorders with distinct clinical manifestations, yet recent research has highlighted their intricate interplay. This review examines the association between AD and epilepsy, with particular emphasis on late-onset epilepsy of unknown etiology, increasingly acknowledged as a prodrome of AD. It delves into epidemiology, pathogenic mechanisms, clinical features, diagnostic characteristics, treatment strategies, and emerging biomarkers to provide a comprehensive understanding of this relationship. Methods: A comprehensive literature search was conducted, identifying 128 relevant articles published between 2018 and 2024. Results: Findings underscore a bidirectional relationship between AD and epilepsy, indicating shared pathogenic pathways that extend beyond traditional amyloid-beta and Tau protein pathology. These pathways encompass neuroinflammation, synaptic dysfunction, structural and network alterations, as well as molecular mechanisms. Notably, epileptic activity in AD patients may exacerbate cognitive decline, necessitating prompt detection and treatment. Novel biomarkers, such as subclinical epileptiform activity detected via advanced electroencephalographic techniques, offer promise for early diagnosis and targeted interventions. Furthermore, emerging therapeutic approaches targeting shared pathogenic mechanisms hold potential for disease modification in both AD and epilepsy. Conclusions: This review highlights the importance of understanding the relationship between AD and epilepsy, providing insights into future research directions. Clinical data and diagnostic methods are also reviewed, enabling clinicians to implement more effective treatment strategies.

18.
J Clin Med ; 13(13)2024 Jul 02.
Artículo en Inglés | MEDLINE | ID: mdl-38999464

RESUMEN

Background: Fabry disease (FD) is a rare X-linked lysosomal storage disorder that commonly manifests cardiovascular complications. We aimed to assess the prevalence of FD in a Chinese population with left ventricular hypertrophy (LVH) whilst implementing a gender-specific screening approach. Methods: Patients with LVH, defined as a maximum thickness of the left ventricular septal/posterior wall ≥ 13 mm, were considered eligible. All patients with hypertrophic cardiomyopathy (HCM) were excluded. Plasma α-galactosidase (α-GLA) enzyme activity was assessed using a dried blood spot test. Males with low enzyme activity underwent genetic testing to confirm a diagnosis of FD whereas females were screened for both α-GLA and globotriaosylsphingosine concentration and underwent genetic analysis of the GLA gene only if testing positive for ≥1 parameter. Results: 426 unrelated patients (age = 64.6 ± 13.0 years; female: male = 113:313) were evaluated. FD was diagnosed in 3 unrelated patients (age = 69.0 ± 3.5 years, female: male = 1:2) and 1 related female subject (age = 43 years). Genetic analyses confirmed the late-onset cardiac variant GLA c.640-801G>A (n = 3) and the missense variant c.869T>C associated with classic FD (n = 1). Cardiac complications were the only significant findings associated with the late-onset c.640-801G>A mutation, manifesting as mild or severe concentric LVH. In contrast, the classic c.869T>C mutation FD exhibited multisystemic manifestations in addition to severe concentric LVH. Conclusions: The prevalence of FD is lower in Chinese patients with LVH when HCM is excluded. The pathological variant c.640-801G>A remains the most common cause of late-onset FD, while the detection of FD in females can be improved by utilizing a gender-specific screening method.

19.
Cureus ; 16(6): e63327, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38947142

RESUMEN

Systemic lupus erythematosus (SLE) is a chronic, multisystem autoimmune disease that can manifest in older individuals, presenting unique diagnostic challenges because of its atypical presentations and comorbidities. Pleural effusion is a relatively uncommon manifestation of SLE, with studies suggesting a higher prevalence in older than younger patients. We herein report an atypical case of delayed-onset SLE in a 75-year-old man with left-sided pleural effusion as the initial presentation. This case underscores the difficulty of diagnosing SLE in patients of advanced age and the importance of considering a broad range of differential diagnoses, even in cases that may suggest a more common disease. This case also highlights the fact that unilateral pleural effusion can be an initial manifestation of SLE, and when the cause of the pleural effusion is unclear, SLE should be considered as a potential diagnosis.

20.
Front Pediatr ; 12: 1397398, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38952433

RESUMEN

Introduction: Preterm birth is a growing problem worldwide. Staying at a neonatal intensive care unit (NICU) after birth is critical for the survival of preterm infants whose feeding often requires the use of nasogastric enteral feeding tubes (NEFT). These can be colonized by hospital-associated pathobionts that can access the gut of the preterm infants through this route. Since the gut microbiota is the most impactful factor on maturation of the immune system, any disturbance in this may condition their health. Therefore, the aim of this study is to assess the impact of NEFT-associated microbial communities on the establishment of the gut microbiota in preterm infants. Material and methods: A metataxonomic analysis of fecal and NEFT-related samples obtained during the first 2 weeks of life of preterm infants was performed. The potential sharing of strains isolated from the same set of samples of bacterial species involved in NICU's outbreaks, was assessed by Random Amplification of Polymorphic DNA (RAPD) genotyping. Results: In the samples taken 48 h after birth (NEFT-1 and Me/F1), Staphylococcus spp. was the most abundant genera (62% and 14%, respectively) and it was latter displaced to 5.5% and 0.45%, respectively by Enterobacteriaceae. Significant differences in beta diversity were detected in NEFT and fecal samples taken at day 17 after birth (NEFT-3 and F3) (p = 0.003 and p = 0.024, respectively). Significant positive correlations were found between the most relevant genera detected in NEFT-3 and F3. 28% of the patients shared at least one RAPD-PCR profile in fecal and NEFT samples and 11% of the total profiles were found at least once simultaneously in NEFT and fecal samples from the same patient. Conclusion: The results indicate a parallel bacterial colonization of the gut of preterm neonates and the NEFTs used for feeding, potentially involving strain sharing between these niches. Moreover, the same bacterial RAPD profiles were found in neonates hospitalized in different boxes, suggesting a microbial transference within the NICU environment. This study may assist clinical staff in implementing best practices to mitigate the spread of pathogens that could threaten the health of preterm infants.

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