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1.
Quant Imaging Med Surg ; 14(9): 6934-6944, 2024 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-39281144

RESUMEN

Background: Placental mesenchymal dysplasia (PMD) is a rare placental vascular malformation of unknown etiology. PMD may coexist with a healthy fetus, and its ultrasound appearance is similar to that of a hydatidiform mole, especially the partial type. Prenatal ultrasonography is vital for accurate diagnosis of these conditions. This study aimed to summarize the characteristics of prenatal ultrasonographic images across different gestational weeks (W) for PMD and evaluate and analyze factors that influence pregnancy outcomes related to PMD. The goal is to improve the diagnosis of PMD, effectively assess fetal prognosis, and provide a reference for prenatal consultations and clinical management. Case Description: Of the 15 included patients, 4, 8, and 3 had PMD in early pregnancy (<13+6 W), mid-pregnancy (approximately 14-27+6 W), and late pregnancy (>28 W), respectively. Among the 15 patients, 5 successfully underwent delivery, thereby resulting in fetal survival; 3 experienced intrauterine death, 1 had a miscarriage, and 6 pregnancies were terminated. During early pregnancy, ultrasonographic manifestations of PMD included microscopic anechoic cystic areas in the placental parenchyma. In the second trimester, the placenta exhibited diffuse enlargement and thickening, with the placental parenchyma showing cellular anechoic cystic areas clearly separated from the surrounding normal placental tissue. As the pregnancy progressed, the cystic areas gradually reduced in the third trimester. Additionally, localized umbilical blood vessels showed tumorous lesions, sometimes accompanied by intravascular thrombosis. Some cases exhibited tortuosity and dilation in the umbilical vein. Conclusions: PMD exhibited varying ultrasonographic characteristics across different gestational stages and demonstrated regular disease evolution corresponding to gestational W. This condition is associated with adverse pregnancy outcomes, with the location, extent, and severity of lesions being crucial factors affecting fetal development in utero.

2.
Clin Cosmet Investig Dent ; 16: 307-319, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39286662

RESUMEN

Hereditary gingival fibromatosis (HGF) is an uncommon genetic condition marked by gradual and progressive overgrowth of fibrous tissue in the gums, which is benign in nature. It is a genetic disorder inherited in an autosomal dominant pattern, known for its considerable genetic diversity. The marginal, attached, and interdental gingivae are affected by this condition. The affected area appears pink, does not bleed easily, and exhibits a firm, fibrotic texture. Additionally, it displays a hard, widespread nodular growth that is smooth to stippled and has little bleeding tendency. Nevertheless, in certain instances, the enlargement may feel so dense and firm that it resembles bone upon palpation. Accordingly, esthetics and functions related to a healthy gingiva is also affected. The choice of treatment modality often depends on factors such as the severity of gingival overgrowth, available resources, and patient-specific considerations. Laser techniques and electrosurgery have emerged as valuable options, providing benefits like reduced discomfort and enhanced precision. However, traditional surgical methods remain highly effective, particularly when advanced technologies are not available. This article reports on three cases of hereditary gingival fibromatosis (HGF) treated with conventional gingivectomy, flap procedures, and resective osseous surgery (osteoplasty and osteotomy). The aim is to support the efficacy of these interventions in addressing patient complaints and preparing the groundwork for managing additional issues, such as speech and mastication difficulties, delayed eruption of permanent teeth, and malocclusion. The surgical treatment led to significant improvements: masticatory function was markedly enhanced, aesthetic outcomes were notably better, and oral hygiene significantly improved. Additionally, the procedures created favorable conditions for future treatments, including orthodontics, implants, or prosthetics, by providing a more manageable and functional oral environment.

3.
Eur Heart J Case Rep ; 8(9): ytae451, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39286727

RESUMEN

Background: Spontaneous coronary artery dissection (SCAD) is the most important cause of acute coronary syndromes during pregnancy and in the post-partum period and involves a spontaneous intimal tear or intramural haematoma of a coronary artery. Pregnancy-associated SCAD accounts for a minority of SCAD cases but is associated with a high rate of adverse events. Case summary: We present a series of three cases with pregnancy-associated SCAD. All patients presented with acute coronary syndromes in the post-partum period, between 12 days and 5 months after delivery. They all had additional conditions that are associated with SCAD, such as fibromuscular dysplasia and migraine. The management of one patient was uncomplicated, however, the courses of the other two were characterized by adverse events. One presented after an out-of-hospital cardiac arrest, the other presented with multivessel SCAD and developed progression and recurrence of SCAD during follow-up. In conclusion, the patients could be successfully treated conservatively and were in good condition at their latest follow-ups. Discussion: This case series highlights the wide range of clinical courses that could exist in pregnancy-associated SCAD, from a benign manifestation to a life-threatening condition. Importantly, those patients are at an increased risk for acute and late adverse events.

4.
Int J Surg Case Rep ; 123: 110289, 2024 Sep 14.
Artículo en Inglés | MEDLINE | ID: mdl-39277907

RESUMEN

INTRODUCTION: Axillary artery aneurysms are rare vascular conditions that can present with various clinical manifestations, including neurological deficits and vascular compromise. While the underlying pathophysiology remains complex and multifactorial, potential associations with trauma, arteriovenous fistula formation, and atherosclerosis have been reported. PRESENTATION OF CASE: Two male patients, aged 33 and 38, with a history of kidney transplantation and previous arteriovenous fistula (AVF) presented with symptoms of upper limb ischemia and neurological compromise. Imaging revealed large axillary artery aneurysms. Open surgical repair was performed for both cases. Two weeks after discharge, one patient showed good pronation and supination with mildly limited extension. The other patient's wrist drop gradually improved with physiotherapy. DISCUSSION: Multifactorial pathophysiology encompassed altered blood flow dynamics, inflammation, and the underlying vascular pathology. Chief complaints and prior vascular interventions contributed. Open surgical repair was preferred to endovascular approaches, achieving favorable outcomes. CONCLUSION: Axillary artery aneurysms in patients with a history of AVF are rare but potentially serious complications. The cases highlight the complexity of axillary artery aneurysms and the need for careful evaluation and surgical intervention This strategy is crucial to prevent potential complications and optimize patient outcomes. Further research is needed to elucidate the precise pathophysiology and the potential association between AVF and the subsequent development of axillary artery aneurysms. Increasing awareness among surgeons could enable earlier detection of aneurysms, thereby reducing the risk of complications.

5.
Int J Surg Case Rep ; 123: 110282, 2024 Sep 12.
Artículo en Inglés | MEDLINE | ID: mdl-39277906

RESUMEN

INTRODUCTION AND SIGNIFICANCE: Mesenteric cysts are rare, non-cancerous tumors found mainly in children. The symptoms can vary depending on the size and location of the cyst. While the exact cause is unknown, complete surgical removal is the main and most effective treatment for mesenteric cysts. CASE PRESENTATION: Three cases involving young boys were presented. They primarily complained of abdominal swelling without pain. Radiological tests revealed mesenteric cysts near the jejunum and transverse colon, and another near the sigmoid colon, which were both successfully removed. CLINICAL DISCUSSION: Despite being uncommon, mesenteric cysts should be considered when diagnosing abdominal masses in children. CONCLUSION: Surgical intervention is crucial for patients with mesenteric cysts. Complete surgical removal leads to a positive prognosis, even for large or complex cases. This stresses the importance of considering. Environmental factors are potential causes for the formation and development of these tumors.

7.
Neurooncol Pract ; 11(5): 604-616, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39279774

RESUMEN

Background: Carers play an important role in supporting patients diagnosed with high-grade glioma (HGG). However, this experience is frequently distressing and many carers require support. Objectives: To describe unmet needs of highly distressed carers of people with HGG and recommendations and referrals made by a nurse to support them within the Care-IS trial. Methods: Descriptive case series. Carers of people with HGG in the Care-IS trial reporting severe anxiety and/or depression at baseline and/or 4 months and high distress at baseline (during chemoradiotherapy) and at 4 months were included. Carers completed the Partner and Caregiver Supportive Care Needs Scale and Brain Tumor Specific Unmet Needs Survey for carers at baseline, 2, 4, 6, and 12 months. Monthly nurse telephone assessments documented carers' needs, recommendations, and referrals made. Data are reported descriptively. Results: Four highly distressed carers were identified (N = 98). Each reported a moderate-high need at ≥1 timepoint for: financial support and/or travel insurance; making life decisions in uncertainty; information about cancer prognosis/likely outcome; and coping with unexpected treatment outcomes. Specific brain tumor unmet needs were: adjusting to changes in personality, mental and thinking abilities, and accessing government assistance. Nurses provided information about treatment, side effects, and practical support. Recommendations for clinical care and referrals to community-based services, and medical specialists were offered. Conclusions: Highly distressed carers have diverse support needs in many domains, which can change over time. Nurses were critical in identifying carers' needs, providing support, and making referrals. Carers' distress and needs require ongoing screening and management.

8.
Int J Med Sci ; 21(11): 2021-2030, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39239556

RESUMEN

Background: Complex regional pain syndrome (CRPS) presents as persistent regional pain, both spontaneous and triggered. The demand persists for innovative treatments that patients can endure with minimal adverse effects. Hyperbaric oxygen therapy (HBOT) emerges as a possible intervention in this regard. Methods: The main objective of this work is to retrospectively analyse a case series of patients diagnosed with CRPS treated in the Centre of Hyperbaric Medicine Ostrava over two years (period 2018-2019). The HBOT was applied at 2.0-2.4 absolute atmosphere (ATA) once a day. Results: A total of 83 patients with CRPS were treated with HBOT. 98% of cases reported pain, 92% reported limitation of movement of the affected limb, 87% had swelling of the limb, 41% had lividity and 70% had sensory problems. The mean number of HBOT exposures was 22.0 ± 7.1. At the end of HBOT treatment, 86% of cases had symptoms relief. The mean VAS value of pain at rest before the start of HBOT was 3.2±3.0, after treatment it was 1.6±1.9 (p<0.001). In a pain at activity it was 6.1±2.4 and 3.7±2.4 (p<0.001), respectively, at the end of HBOT. The value of the functional assessment of the limb was 7.0±2.0 and 4.3±2.4 (p<0.001), respectively, at the end of treatment. 79 cases were included in the end-of-treatment assessment. 23 cases (29%) were evaluated as large clinically significant response, 48 cases (61%) were evaluated as partial response with minimally important difference. The results showed larger clinical HBOT effect in cases of disease duration up to 3 and 6 months (p=0.029). Conclusions: The majority of patients improved pain and functional state of the affected limb. Our data also suggests the sooner after diagnosis of CRPS is HBOT started, the treatment has larger clinical effect. There was no serious HBOT-related complication or injury.


Asunto(s)
Síndromes de Dolor Regional Complejo , Oxigenoterapia Hiperbárica , Humanos , Oxigenoterapia Hiperbárica/métodos , Estudios Retrospectivos , Femenino , Masculino , Síndromes de Dolor Regional Complejo/terapia , Persona de Mediana Edad , Adulto , Resultado del Tratamiento , Anciano , Dimensión del Dolor
9.
J Thorac Dis ; 16(8): 5379-5387, 2024 Aug 31.
Artículo en Inglés | MEDLINE | ID: mdl-39268146

RESUMEN

Background: Acquired mutations within bypass pathways including BRAF V600E have been observed in post-osimertinib progression in EGFR-mutant non-small cell lung cancer (NSCLC). The combination of dabrafenib and trametinib is currently Food and Drug Administration-approved in BRAF V600E-mutant NSCLC. However, the application of osimertinib and dabrafenib and trametinib in the setting of acquired BRAF V600E mutation resistance from osimertinib therapy has not been clearly defined. In this case series, we evaluate the efficacy and tolerability of continued osimertinib in combination with dabrafenib and trametinib in BRAF V600E acquired EGFR-mutant NSCLC. Case Description: We retrospectively reviewed our clinical patient cohort at the University of California San Diego and patients from published case studies. Individuals who had metastatic EGFR-mutant lung adenocarcinoma treated with osimertinib at any line whom subsequently developed an acquired BRAF V600E mutation confirmed by next-generation sequencing were included for analysis. All patients had subsequent dabrafenib and trametinib in combination with osimertinib after detection of the novel BRAF V600E mutation post-osimertinib therapy. We identified three cases from our practice and nine cases from literature review. In our study cohort (n=12), we observed a median progression-free survival of 7 months on triplet therapy (osimertinib, dabrafenib, and trametinib) post progression on osimertinib, median overall survival of 46.2 months, and 60% partial response on first scan after treatment initiation. Dose reductions were required in 5/12 patients due to adverse events and treatment discontinuation in 2/12 patients. The most common adverse events were pyrexia and rash, and two cases of pneumonitis were observed (grade 1 & unreported grade). Conclusions: We concluded that the addition of combination dabrafenib and trametinib can be tolerable and effective in patients with acquired BRAF V600E mutation post progression on osimertinib. This study supports molecular profiling at osimertinib progression and provides additional information on the appropriate sequencing of targeted therapies in the EGFR tyrosine kinase inhibitor resistance setting.

10.
Int J STD AIDS ; : 9564624241279489, 2024 Sep 03.
Artículo en Inglés | MEDLINE | ID: mdl-39226448

RESUMEN

Psoriasis, a chronic inflammatory skin disease, presents unique challenges when co-occurring with HIV. Tildrakizumab, an IL-23p19 inhibitor, has demonstrated efficacy in treating moderate-to-severe psoriasis. This retrospective case series reports three individuals living with HIV and psoriasis treated with tildrakizumab. Clinical outcomes, including Psoriasis Area and Severity Index (PASI) and HIV viral load, were recorded over a year. All three patients achieved significant clinical improvements with tildrakizumab, with PASI scores improving by over 95%. No adverse effects were reported, and HIV viral loads remained undetectable. Tildrakizumab appears to be a safe and effective treatment option for psoriasis in individuals living with HIV, providing significant benefits without compromising HIV control.

11.
J Neurosurg Case Lessons ; 8(10)2024 Sep 02.
Artículo en Inglés | MEDLINE | ID: mdl-39222544

RESUMEN

BACKGROUND: The intrathecal baclofen pump is an effective treatment option for patients with severe spasticity. In children, subfascial pump placement is often preferred given concerns for infection and wound healing. However, this approach is not without risk, and rare complications, such as peritoneal pump migration, can occur. OBSERVATIONS: The authors describe three pediatric cases of peritoneal pump migration at their institution over the past 14 years (3/545, 0.5%). All three patients had low body weight (below the 39th percentile), and two had scoliosis requiring surgery. All pumps had been placed using the subfascial technique. The first case occurred 6 months postplacement, and the pump was not replaced. Cases 2 and 3 occurred at 2 and 3 years postplacement, respectively, and both pumps were replaced. LESSONS: The authors conclude that peritoneal pump migration, although uncommon, can occur in patients with subfascial pump placement, and providers should have a low threshold of suspicion for repeat imaging prior to refilling if the pump's location has migrated. Potential contributing factors to pump migration include a patient's small size, a larger pump size (40-mL pump), and scoliosis. All these factors should be considered during pump placement, and surgeons can consider using a 20-ml pump for smaller patients. https://thejns.org/doi/abs/10.3171/CASE24290.

12.
Pharmacoepidemiol Drug Saf ; 33(9): e70006, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39238434

RESUMEN

BACKGROUND: Several cases of renal complications, including acute kidney injury (AKI), after influenza vaccination have been reported, but the association remains unproven. We evaluated the association between influenza vaccination and AKI occurrence among the Korean elderly in the 2018-2019 and 2019-2020 seasons. METHODS: We used a large database combining vaccination registration data from the Korea Disease Control and Prevention Agency and claims data from the National Health Insurance Service. The study subjects were patients hospitalized with AKI for the first-time following vaccination among those who received one influenza vaccine in the 2018-2019 or 2019-2020 season. Only those aged 65 or older at the date of vaccination were included. We performed a self-controlled case series study, designating the risk period as 1 to 28 days post-vaccination and the observation period as each influenza season. The adjusted incidence rate ratio (aIRR) was calculated by adjusting for nephrotoxic drug use and influenza infection that may influence AKI occurrence using a conditional Poisson regression model. RESULTS: A total of 16 713 and 16 272 AKI events were identified during the 2018-2019 and 2019-2020 seasons, respectively. The aIRR for AKI was 0.83 (95% confidence interval [CI] = 0.79-0.87) in the 2018-2019 season. The aIRR for the 2019-2020 influenza season was similar to the 2018-2019 season (aIRR = 0.86; 95% CI = 0.82-0.90). CONCLUSIONS: Influenza vaccination is associated with a lower risk of AKI in the elderly over 65. This evidence supports the recommendation of annual influenza vaccination for the elderly. Further studies are needed to determine the biological mechanisms linking the influenza vaccine and AKI.


Asunto(s)
Lesión Renal Aguda , Vacunas contra la Influenza , Gripe Humana , Humanos , Vacunas contra la Influenza/efectos adversos , Vacunas contra la Influenza/administración & dosificación , Lesión Renal Aguda/epidemiología , Lesión Renal Aguda/inducido químicamente , Lesión Renal Aguda/etiología , Anciano , Masculino , Femenino , Gripe Humana/prevención & control , Gripe Humana/epidemiología , República de Corea/epidemiología , Anciano de 80 o más Años , Incidencia , Vacunación/efectos adversos , Vacunación/estadística & datos numéricos , Bases de Datos Factuales , Hospitalización/estadística & datos numéricos , Estaciones del Año , Factores de Riesgo
13.
Cureus ; 16(9): e68709, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39238924

RESUMEN

Introduction Chronic non-healing ulcers are defined as a discontinuity or break in the integrity of skin that is not healing in a reasonable period of time due to an underlying systemic etiology. Despite using conventional initial treatment and many other available dressing options, such wounds are difficult to completely heal, thus affecting the progress of rehabilitation measures and compromising functional improvement and quality of life. Materials and methods In this case series, platelet-rich fibrin (PRF) was applied to eight wounds from six patients. The patients included had various etiologies (including spinal cord injury, peripheral vascular disease, Guillain-Barré syndrome, and diabetic foot ulcer) with chronic non-healing wounds over different anatomical locations on the body. Pressure ulcer scale for healing (PUSH) score, surface area, and volume of the wounds were evaluated and monitored weekly after PRF dressing. We have applied PRF every week. On average, two PRF dressings were applied, the maximum being three applications. Results The maximum healing rate in terms of PUSH score was observed to be 3.84% per day, and the minimum was 1.19% per day. The maximum healing rate in terms of surface area was observed to be 5.89% per day, and the minimum was 1.78% per day. Three of the wounds showed complete closure. The maximum follow-up period was 10 weeks. The percentage mean Functional Independence Measure (FIM) improvement was calculated to be 15.87% ± 14.04 during the course of hospitalization after PRF application. Conclusion Based on the results, we can conclude that PRF showed accelerated improvement in the healing of chronic non-healing ulcers of various etiologies at different anatomical locations. It has proven to be a safe and effective method, thereby improving their quality of life and functional independence in performing activities of daily living. To our knowledge till date, no other study in a rehabilitation setting has been done on patients having non-healing ulcers due to various etiologies and at different anatomical locations.

14.
Ann Med Surg (Lond) ; 86(9): 4979-4983, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39239054

RESUMEN

Introduction and importance: ß-thalassemia is a hereditary blood disorder with a global prevalence, presenting diagnostic and management challenges, particularly in regions with high consanguinity rates. Diagnostic methods include clinical assessments, genetic testing, and hemoglobin electrophoresis. Treatment typically involves transfusions and chelation therapy, with gene therapy showing promise. This case series emphasizes the need for tailored care strategies and global health initiatives to improve outcomes for ß-thalassemia patients worldwide. Methods: This case series involves five patients from rural Nepal presenting various ß-thalassemia manifestations. The cases highlight the challenges in diagnosis and management in resource-limited settings. Data were collected through clinical assessments, laboratory investigations, and follow-ups. Each patient's medical history, presentation, and treatment regimen were documented. Outcomes: The cases underscore the importance of regular follow-ups, community engagement, and personalized treatment strategies tailored to genetic profiles. Key findings include the necessity for consistent transfusion schedules, iron overload monitoring, and managing complications associated with ß-thalassemia. Enhanced education and healthcare collaboration were noted as critical for optimizing care and outcomes in resource-limited settings. Conclusions: Managing ß-thalassemia in resource-limited settings demands timely intervention, regular monitoring, and community involvement. Enhanced healthcare collaboration, access to advanced diagnostic tools, and tailored treatment strategies are paramount in addressing the unique challenges of ß-thalassemia. These measures are essential for ensuring an improved quality of life for affected individuals in such regions.

15.
Health Sci Rep ; 7(9): e70050, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39221046

RESUMEN

Background: Complications such as forearm hematoma after coronary intervention through the radial artery are a common complication. Material and methods: By observing, describing, and analyzing the pictures taken during clinical diagnosis and consultation, we summarize the prevention, treatment, and nursing of forearm hematoma after percutaneous coronary intervention, to provide reference for the nursing of patients with forearm hematoma. Results: We have innovatively summarized the risk classification of forearm hematoma and the three key time points for preventing hematoma. Conclusion: Complications such as forearm hematoma after coronary intervention through the radial artery are a common complication. We have innovatively summarized the risk classification of forearm hematoma and the three key time points for preventing hematoma, providing reference for the prevention and management of forearm hematoma in clinical practice. For patients undergoing transradial coronary intervention, the three key time points for preventing hematoma and symptomatic management based the risk classification of forearm hematoma are crucial.

16.
J Clin Epidemiol ; : 111511, 2024 Sep 02.
Artículo en Inglés | MEDLINE | ID: mdl-39233134

RESUMEN

OBJECTIVES: The prior event rate ratio is a recently developed approach for controlling confounding by measured and unmeasured covariates in real-world evidence research and observational studies. Despite its rising popularity in studies of safety and effectiveness of biopharmaceutical products, there is no guidance on how to empirically evaluate its model assumptions. We propose two methods to evaluate two of the assumptions required by the prior event rate ratio, specifically, the assumptions that occurrence of outcome events does not alter the likelihood of receiving treatment, and that earlier event rate does not affect later event rate. STUDY DESIGN AND SETTING: We propose using self-controlled case series (SCCS) and dynamic random intercept modelling (DRIM) respectively, to evaluate the two aforementioned assumptions. A non-mathematical introduction of the methods and their application to evaluate the assumptions are provided. We illustrate the evaluation with secondary analysis of de-identified data on pneumococcal vaccination and clinical pneumonia in The Gambia, West Africa. RESULTS: SCCS analysis of data on 12,901 vaccinated Gambian infants did not reject the assumption of clinical pneumonia episodes had no influence on the likelihood of pneumococcal vaccination. DRIM analysis of 14,325 infants with a total of 1,719 episodes of clinical pneumonia did not reject the assumption of earlier episodes of clinical pneumonia had no influence on later incidence of the disease. CONCLUSION: The SCCS and DRIM methods can facilitate appropriate use of the prior event rate ratio approach to control confounding.

17.
Artículo en Inglés | MEDLINE | ID: mdl-39235394

RESUMEN

Introduction: Hyperactive catatonia is often unrecognized in pediatric patients due to its clinical heterogeneity, though it is often seen in children with neurodevelopmental disabilities, especially autism spectrum disorder (ASD). Emerging evidence implicates hyperactive catatonia in more cases of self-injury and aggression in ASD than previously thought. Objectives: The study seeks to describe cases of hyperactive catatonia in SYNGAP-1 mutation and examine existing literature for symptomatic overlap between previously-described clinical and behavioral phenotypes of individuals with SYNGAP-1 mutations and catatonia. Methods: The study describes two cases of an adolescent and a young adult with SYNGAP-1 mutation and ASD presenting with hyperactive catatonia, which are the first reports of catatonia in individuals known to have a pathogenic variant in SYNGAP-1. A systematic review was undertaken during which 101 articles were screened. 13 articles were then examined for neurological and behavioral features present in participants with SYNGAP-1 mutations which are seen in catatonia. Results: The systematic review demonstrates that clinical features suggestive of catatonia are frequently seen among individuals with SYNGAP-1 mutations, including verbal impairment, psychomotor symptoms, aggression, oral aversion, and incontinence. These features were also present in the cases of catatonia in SYNGAP-1 mutations presented here. Both patients showed clinical improvement with use of a long-acting benzodiazepine, and one patient showed benefit from electroconvulsive therapy. Conclusions: This symptomatic overlap revealed in the systematic review, including symptoms seen in the reported cases, raises the possibility that diagnoses of catatonia may have been missed in the past in individuals with SYNGAP-1 mutations. Self-injurious behavior and aggression, which are hallmarks of hyperactive catatonia, are commonly part of the behavioral phenotype of SYNGAP-1-related disorders. Clinicians should consider catatonia as a cause of such symptoms in individuals with SYNGAP-1 mutations, as effective treatment can result in significant improvement in safety and quality of life.

18.
ESMO Open ; 9(9): 103698, 2024 Sep 05.
Artículo en Inglés | MEDLINE | ID: mdl-39241497

RESUMEN

BACKGROUND: Immunotherapy is used routinely for treating deficient mismatch repair (dMMR) colon cancer (CC). This case series highlights an emerging safety issue, where patients develop bowel obstruction associated with immunotherapy response. PATIENTS AND METHODS: Patients with dMMR CC who developed bowel obstruction while responding to immunotherapy were retrospectively identified. Data on patient, disease, treatment, and response-specific factors were explored for potential risk factors. Overall treatment numbers were used to estimate incidence. RESULTS: Nine patients from eight European centres were included. Common features were hepatic flexure location (5/9), T4 radiological staging (6/9), annular shape (8/9), radiological stricturing (5/9), and endoscopic obstruction (6/9). All received pembrolizumab and obstructed between 45 and 652 days after starting treatment. Seven patients underwent surgical resection; one was managed with a defunctioning stoma; and one was managed conservatively. One patient died from obstruction. Radiological response was seen in eight patients, including two complete responses. Pathological response was seen in all seven who underwent resection, including four complete responses. The overall incidence of immunotherapy response-related obstruction in these centres was 1.51%. CONCLUSIONS: Bowel obstruction associated with immunotherapy response may represent a rare treatment-related complication in dMMR CC. Clinicians must recognise this safety signal and share experience to maintain patient safety.

19.
J Family Med Prim Care ; 13(8): 3420-3423, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39228545

RESUMEN

Dengue infection can take on many different forms, ranging from no symptoms to a mild fever, all the way to a severe condition known as dengue shock syndrome. Although the typical symptoms of dengue are well known, the virus can also cause rare neurological complications. Dengue encephalitis is a severe form of neuroinvasive dengue that can be fatal as the virus directly affects the central nervous system. This case series provides a comprehensive overview of dengue, its clinical spectrum, and the potential for severe neurological complications such as dengue encephalitis. It highlights the importance of considering dengue as a possible diagnosis in patients with encephalitis, particularly during a dengue epidemic.

20.
Nutr Clin Pract ; 2024 Sep 10.
Artículo en Inglés | MEDLINE | ID: mdl-39257059

RESUMEN

BACKGROUND: Acute malnutrition in children <5 years of age has a direct relationship with medical complications and mortality. We aimed to describe the etiologic factors in children with moderate and severe non-illness-related acute malnutrition who required hospitalization for treatment of malnutrition in two high-complexity hospital centers in Bogotá, Colombia. METHODS: This is a multicenter case series (December 2016 to December 2020) including patients aged 1-59 months with a weight/height indicator less than -2 SD. Electronic health records were reviewed, and demographic (sex, age, city of origin, and socioeconomic status) and clinical data (gestational age at birth, edema, and nutrition status) were collected. Descriptive analysis of information was performed. An exploratory bivariate analysis by diagnostic categories of moderate and severe acute malnutrition vs days of hospitalization was also performed. RESULTS: Forty-five patients were included, 62.2% of whom were male, with a median age of 14 months (Q1-Q3: 7-24). The main etiologic factors of malnutrition were related to problems with total food intake (33.3%), transition in consistency of feeding (31.1%), and breastfeeding technique (22.2%). Only 13.3% had problems related to food insecurity. There were no statistically significant differences between moderate (median: 7 days; Q1-Q3: 5-12) and severe (median: 8 days; Q1-Q3: 5-16) acute malnutrition when compared by days of hospitalization. CONCLUSIONS: The main etiologic factors of malnutrition in our study population were related to problems in the amount of food provided and transition in consistency of complementary feeding.

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