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1.
Cureus ; 16(8): e66524, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39246860

RESUMEN

This case presentation involves a 31-year-old pregnant woman (gravida 2, para 1) in her 33rd week of pregnancy, who presented to the Emergency Department of General Hospital of Trikala, in Greece, complaining of 24-hour abdominal pain, vomiting, and diarrheal stools. With a possible initial diagnosis of acute gastroenteritis, it was decided to admit the pregnant woman to the Obstetrics and Gynecology Department. Abdominal ultrasound revealed thickening of the gallbladder wall without the presence of gallstones or distension of the intrahepatic and extrahepatic bile ducts. Clinical examination by a surgical team, combined with ultrasound and laboratory findings, established the diagnosis of acute cholecystitis. After successful conservative antibiotic treatment, the patient was discharged from the department on the fifth day of hospitalization. She underwent laparoscopic cholecystectomy during the puerperal period. In this paper, after describing a case of acute cholecystitis in pregnancy, we highlight the significant diagnostic difficulties and therapeutic dilemmas regarding the management of these patients, including their reluctance to use invasive diagnostic methods and their concerns about the teratogenicity of administered drugs.

2.
Pan Afr Med J ; 47: 216, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39247783

RESUMEN

Introduction: neuromeningeal tuberculosis (NMT) is a significant public health challenge in Morocco because of its acute severity and high mortality rates. This study aims to comprehensively evaluate the epidemiological, clinical, therapeutic, and disease progression characteristics of NMT in the Kenitra province. Methods: a retrospective analysis was conducted on the medical records of patients diagnosed with NMT at the Diagnostic Center of Tuberculosis and Respiratory Diseases in Kenitra from 2014 to 2017. Results: among the 33 identified NMT cases, predominantly males (57.6%) were affected, with an age range of 4-76 years and a median age of 25 years. Extrapulmonary manifestations were prevalent, constituting 78.8% (n=26) of all cases, with meningeal localization in 45.5% (n=15) of confirmed cases. Furthermore, 9.1% (n=3) of cases were associated with unconfirmed cerebral tuberculosis (TB), and 12% (n=4) exhibited miliary TB. Familial transmission and comorbidities were identified as significant factors in disease progression. More than half of the patients received standardized antibacillary treatment during hospitalization, which lasted between 9 and 12 months. Treatment outcomes were generally positive (73%), but a 12% case fatality rate and 15% loss to follow-up were observed. Conclusion: this study highlights the complex clinical and public health challenges posed by NMT in Morocco. It emphasizes the need for improved health strategies that not only increase public awareness but also enhance the accessibility and quality of diagnostic services and treatment options.


Asunto(s)
Antituberculosos , Progresión de la Enfermedad , Índice de Severidad de la Enfermedad , Tuberculosis Meníngea , Humanos , Marruecos/epidemiología , Masculino , Femenino , Estudios Retrospectivos , Adolescente , Persona de Mediana Edad , Adulto , Niño , Adulto Joven , Anciano , Tuberculosis Meníngea/epidemiología , Tuberculosis Meníngea/diagnóstico , Tuberculosis Meníngea/tratamiento farmacológico , Preescolar , Antituberculosos/administración & dosificación , Resultado del Tratamiento , Hospitalización/estadística & datos numéricos , Tuberculosis Miliar/diagnóstico , Tuberculosis Miliar/epidemiología , Tuberculosis Miliar/tratamiento farmacológico
3.
Curr Med Res Opin ; : 1-40, 2024 Sep 18.
Artículo en Inglés | MEDLINE | ID: mdl-39291999

RESUMEN

OBJECTIVE: Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare genetic inborn errors of metabolism. Clinical manifestations may result in frequent healthcare visits, hospitalizations, and early death. This retrospective cohort study assessed manifestations, healthcare resource use (HRU), direct medical costs, and the impact of COVID-19 on HRU among patients with LC-FAOD. METHODS: The IQVIA PharMetrics Plus database was searched for pediatric (0-17 years) and adult (≥18 years) patients with confirmed LC-FAOD (ICD-10-CM Diagnosis Code E71.310) and ≥12 months continuous enrollment (CE) between January 2016-February 2020. A non-LC-FAOD general population cohort was randomly selected and matched using 1:20 exact matching on age, gender, payer type, and CE start year. Manifestations were identified via ICD-10 diagnosis codes (any billing position). Overall HRU and attributable costs were stratified by care setting. Pre-COVID-19 (March 2019-February 2020) and during COVID-19 (March 2020-February 2021) HRU was assessed among a subgroup of patients and the general population. Outcomes were evaluated among children and adults, respectively. RESULTS: 423 patients with LC-FAOD (47% female; 79.7% children) were included. Mean enrollment duration was 2.6 ± 1.2 years. 22.6% of children with LC-FAOD had at least one major clinical event (MCE), consisting of rhabdomyolysis (10.1%), hypoglycemia (9.8%), or cardiomyopathy (8.6%) versus 1.5% overall occurrence in the general population. Adults with LC-FAOD had higher incidence of MCEs (37.2%) than children with LC-FAOD. Annualized all-cause HRU in all care settings and mean total annualized medical costs (children: $17,082 vs $4,144; adults: $43,602 vs $3,949) were higher in patients with LC-FAOD versus the general population. Patients with LC-FAOD had substantially fewer healthcare visits during COVID-19 across care settings than during the pre-COVID-19 period. CONCLUSIONS: LC-FAOD impart a high burden on patients. Extended hospital stays and increased outpatient management were especially pronounced for adults and for patients with ≥1 MCE, resulting in substantially higher medical costs than the general population.

4.
Acta Trop ; 260: 107397, 2024 Sep 14.
Artículo en Inglés | MEDLINE | ID: mdl-39278519

RESUMEN

Severe fever with thrombocytopenia syndrome (SFTS) is a tick-borne viral disease that is increasingly affecting human being worldwide. The clinical manifestations and mortality rates of SFTS can vary depending on the geographic region and the specific genotype of the SFTS virus (SFTSV). From July 2022 to August 2023, we collected serum samples from 83 patients with suspected SFTSV infection in the northwest of Hubei Province, China. From which, 13 patients tested positive for SFTSV. Phylogenetic analysis of the SFTSV L, M, and S gene segments was performed using the maximum likelihood method to determine the genetic diversity of the isolates. At least 2 SFTSV genotypes (A and F) were identified in the northwest of Hubei Province. The clinical manifestations and laboratory findings on the first day of admission were investigated. Results showed that bleeding and disturbance of consciousness, and significant elevated AST and APTT, are valuable for assessing the prognosis for SFTS patients. This study disclosed the genomic sequences and genotypes of SFTSV spreading in the northwest of Hubei Province for the first time, providing information of genetically etiology for SFTS in the local district. Furthermore, certain symptoms and/or laboratory findings may indicate adverse clinical outcomes, highlighting the importance of identifying the symptoms and monitoring specific laboratory markers. Future research is needed to investigate the threshold values of these markers and to closely observe the indicative symptoms in order to early identify and timely management of critically ill patients within clinical settings.

5.
Heliyon ; 10(17): e37434, 2024 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-39295993

RESUMEN

Background: Distinguishing nontuberculous mycobacteria pulmonary disease (NTM-PD) from pulmonary tuberculosis (PTB) is a challenge especially in patients with positive sputum smear of acid-fast bacilli (AFB). This study aimed to compare and identify the clinical characteristics between the two diseases among patients with positive sputum AFB. Methods: From February 2017 through March 2021, patients with positive sputum AFB were reviewed in two hospitals of China. Among them, clinical data of NTM-PD and PTB patients was collected and compared. Results: 76 cases of NTM-PD and 92 cases of PTB were included in our study. When compared with PTB, NTM-PD patients were older (59.2 ± 11.4 vs 44.2 ± 19.5 years, P < 0.001) and manifested more hemoptysis and dyspnea (28.9 % vs 14.1 %, P < 0.05; 48.7 % vs 17.4 %, P < 0.001 respectively). The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) for Xpert were 85.9 %, 96.1 %, 96.3 %, 84.9 %, respectively, compared to 94.2 %, 81.1 %, 83.1 %, 93.5 %, respectively for T-spot in diagnosing PTB. In radiological features, NTM-PD affected more lobes (4.53 ± 0.89 vs 3.61 ± 1.41, P < 0.001) and showed more consolidation (50 % vs 32.6 %, P < 0.05), destroyed lung (22.7 % vs 9.8 %, P < 0.05), honeycomb lung (26.7 % vs 6.5 %, P < 0.001) but less nodules (80.3 % vs 95.7 %, P < 0.05), tree-in-bud sign (49.3 % vs 87 %, P < 0.001), and satellite nodules (14.5 % vs 90.2 %, P < 0.001) than PTB. Age (odds ratio [OR], 1.043; 95 % confidence interval [CI], 1.018-1.069, P < 0.05), hemoptysis (OR, 3.552; 95%CI, 1.421-8.729, P < 0.05), and dyspnea (OR, 2.631; 95%CI, 1.151-6.016, P < 0.05) were independently correlated with NTM infection. Conclusions: NTM-PD and PTB share similar clinical manifestations. Among them, advanced age, hemoptysis, and dyspnea are the independent predictors for NTM infection. Xpert is an efficiency analysis in discriminating between NTM-PD and PTB in patients with positive sputum AFB.

6.
J Family Med Prim Care ; 13(8): 3011-3016, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39228622

RESUMEN

Background: Snakebites are a common medical emergency and occupational hazard for children in India, particularly in rural areas where poverty is prevalent. However, there is limited data on the epidemiology of snakebites on the Indian subcontinent. Objective: This cross-sectional, observational study aims to investigate the epidemiology, major clinical manifestations, and outcomes of snakebites in children under the age of 15 who were admitted to a tertiary care center in Bihar, a state in East India, and draw attention to this public health concern. Methods: A cross-sectional observational study was conducted at the Department of Paediatrics, Patna Medical College and Hospital, Patna. The study included all cases of snakebites with features of envenomation involving patients less than 15 years of age who were brought to the department over a 2-year period. Data were collected using a data collection form and analyzed using the Statistical Package for the Social Sciences, version 11.0 (SPSS Inc., Chicago, IL, USA). Results: A total of 59 cases were recorded, with 62.71% (n = 37) being male and 37.28% (n = 22) being female. Kraits were responsible for 38.9% (n = 23) of cases, vipers for 42.3% (n = 25), and cobras for 5% (n = 3). Fang marks were present in 67.7% (n = 40) of cases, and the majority of bites (84.7%, n = 50) occurred on a lower limb during the day. The age distribution showed that 16.9% (n = 10) were below 5 years old, 44% (n = 26) were between 5 and 10 years old, and 22% (n = 13) were above 10 years old. Traditional treatment was used in 44.7% (n = 22) of cases, with the most common treatments being local incision + tourniquet (22%, n = 13) and no traditional treatment (55.9%, n = 33). The highest number of cases occurred during July-September (35.5%, n = 21). Conclusion: Snakebites are a significant public health issue in Bihar, India, with the majority of cases occurring in rural areas. The study highlights the importance of increased awareness and preparedness among healthcare providers and the general public, particularly during the monsoon season. Early hospital transfer, prehospital management, and prevention should be promoted through regular public health initiatives.

7.
Cancer Rep (Hoboken) ; 7(8): e2135, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39158196

RESUMEN

BACKGROUND: Primary tracheal carcinoma is an exceptionally rare and life-threatening disease that presents significant diagnostic and therapeutic challenges. Delayed diagnosis due to misinterpretation of airway obstruction symptoms often leads to poorer prognoses for patients. This study aimed to explore the clinical manifestations and multidisciplinary treatment approaches for primary tracheal carcinoma in Bangladesh, with a focus on recent advancements in diagnosis and treatment. METHODS: A retrospective observational study was conducted at Bangladesh Specialized Hospital Limited, involving patients aged over 30 who were diagnosed with tracheal carcinoma and underwent multidisiplinary treatment from July 2018 to June 2019. Data were collected through patient interviews and medical record reviews. Descriptive and inferential statistical analyses were performed to examine demographic characteristics, histological variations, tumor locations, clinical signs and symptoms, treatment approaches, and outcomes. RESULTS: The study illuminated varied clinical presentations and the successful application of multidisciplinary approaches among the 13 patients. Invasive squamous cell carcinoma and adenoid cystic carcinoma were the predominant histological subtypes. Symptomatology, including dyspnea, cough, and hemoptysis, highlighted the challenge of early detection. Despite the rarity and intricacies associated with primary tracheal carcinoma, the multidisciplinary strategy yielded generally positive outcomes, as evidenced by a 1-year survival rate of 92.31% and a 5-year survival rate of 76.92%. Kaplan-Meier survival curves underscored the superior efficacy of surgical interventions over non-surgical approaches. CONCLUSION: Despite some limitations, this study contributes crucial insights into the nuanced management of primary tracheal carcinoma in the Bangladeshi context. The demonstrated success of the multidisciplinary strategy, especially surgical interventions, accentuates the importance of definitive resection. The lone case of local recurrence emphasizes the necessity for vigilant follow-up.


Asunto(s)
Neoplasias de la Tráquea , Humanos , Neoplasias de la Tráquea/terapia , Neoplasias de la Tráquea/diagnóstico , Neoplasias de la Tráquea/mortalidad , Neoplasias de la Tráquea/patología , Masculino , Femenino , Estudios Retrospectivos , Persona de Mediana Edad , Bangladesh/epidemiología , Adulto , Anciano , Terapia Combinada , Tasa de Supervivencia , Carcinoma de Células Escamosas/terapia , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/patología , Carcinoma de Células Escamosas/mortalidad , Carcinoma Adenoide Quístico/terapia , Carcinoma Adenoide Quístico/diagnóstico , Carcinoma Adenoide Quístico/patología , Carcinoma Adenoide Quístico/mortalidad , Pronóstico
8.
Front Oncol ; 14: 1357945, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39139288

RESUMEN

Ewing sarcoma (ES)/peripheral primitive neuroectodermal tumor is a highly aggressive malignant tumor that typically presents in bone and soft tissue. Primary ES of the intestine is relatively rare, which poses a challenge in distinguishing it from other primary tumors of the small intestine through imaging. This article details a case study of ES originating in the intestine. Computed tomography (CT) imaging suggested a small intestinal stromal tumor, and so the patient underwent resection of the small bowel and omental tumor. Pathology results confirmed the diagnosis of ES of the small intestine. Following surgery, the patient underwent six cycles of chemotherapy, and a follow-up positron emission tomography-CT revealed widespread dissemination of the disease with intraperitoneal metastasis, ultimately resulting in the death of the patient.

9.
Cureus ; 16(7): e63713, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39099980

RESUMEN

Echinococcosis, a parasitic infection caused by Echinococcus tapeworms, can cause various symptoms depending on the location and size of the cysts. This article explores the complexities of echinococcosis, including its transmission cycle, clinical manifestations, diagnosis, and treatment approaches. The review highlights the challenges associated with diagnosing the different echinococcosis types, including cystic echinococcosis, alveolar echinococcosis, and polycystic echinococcosis. Each form of the disease necessitates a unique diagnostic approach that often combines serological tests, imaging techniques, and histological analysis. The article explores treatment options for each type of echinococcosis, including surgical resection, medication, and minimally invasive procedures such as puncture-aspiration-injection-reaspiration (PAIR). The article acknowledges current treatment methods' limitations and emphasises the need for further research into improved diagnostics, drug targets, and preventative measures. This review aims to provide a comprehensive overview of echinococcosis, encompassing its transmission, clinical presentation, diagnosis, and treatment modalities. By outlining the complexities of the disease and highlighting areas for future research, the article hopes to contribute to improved disease management and control. Key findings of the review include the identification of significant diagnostic challenges in differentiating between cystic, alveolar, and polycystic echinococcosis, the varying efficacy of treatment modalities such as surgical resection and PAIR, and the urgent need for further research into enhanced diagnostic methods, novel drug targets, and effective preventative strategies.

10.
Front Oncol ; 14: 1427802, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39087024

RESUMEN

Pancreatic adenocarcinoma, a clinically challenging malignancy constitutes a significant contributor to cancer-related mortality, characterized by an inherently poor prognosis. This review aims to provide a comprehensive understanding of pancreatic adenocarcinoma by examining its multifaceted etiologies, including genetic mutations and environmental factors. The review explains the complex molecular mechanisms underlying its pathogenesis and summarizes current therapeutic strategies, including surgery, chemotherapy, and emerging modalities such as immunotherapy. Critical molecular pathways driving pancreatic cancer development, including KRAS, Notch, and Hedgehog, are discussed. Current therapeutic strategies, including surgery, chemotherapy, and radiation, are discussed, with an emphasis on their limitations, particularly in terms of postoperative relapse. Promising research areas, including liquid biopsies, personalized medicine, and gene editing, are explored, demonstrating the significant potential for enhancing diagnosis and treatment. While immunotherapy presents promising prospects, it faces challenges related to immune evasion mechanisms. Emerging research directions, encompassing liquid biopsies, personalized medicine, CRISPR/Cas9 genome editing, and computational intelligence applications, hold promise for refining diagnostic approaches and therapeutic interventions. By integrating insights from genetic, molecular, and clinical research, innovative strategies that improve patient outcomes can be developed. Ongoing research in these emerging fields holds significant promise for advancing the diagnosis and treatment of this formidable malignancy.

11.
Heliyon ; 10(14): e34398, 2024 Jul 30.
Artículo en Inglés | MEDLINE | ID: mdl-39108918

RESUMEN

Linear morphea is the most disabling subtype of morphea, which may cause a series of excutaneous manifestations and sequelae. To futher explore the clinical characteristics of linear morphea, we conducted a retrospective study of 22 patients diagnosed with linear morphea in our department during the past 2 years. Their baseline clinical information, skin manifestations, complications and therapeutic effect were analyzed. Here, we report six cases of a special linear morphea, usually occurring on the unilateral upper limbs of young women, spreading along the distribution of the radial nerve and frequently progressing across the joint, which increases the incidence of neuromusculoskeletal disorders. Instead of traditional topical drugs, a combination of systemic prednisone and methotrexate improved their skin lesions and complications. Recognition of this special type of linear morphea enables earlier diagnosis and active treatment plan, which contributes to ameliorate the symptoms and avoid functional sequelae.

12.
Mol Genet Genomic Med ; 12(8): e70001, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39194158

RESUMEN

BACKGROUND: Feeding difficulties frequently co-occur with multisystem disorders attributed to rare genetic diseases. In this study, we aimed to describe the genetic manifestations and phenotype spectrum in infants experiencing feeding difficulties. METHODS: This case series included infants under 6 months old with feeding difficulties admitted to the neonatal department of Children's Hospital, Zhejiang University School of Medicine from October 2018 to May 2022. All infants underwent whole-exome sequencing (WES) during hospitalisation, and their clinical phenotypes and genetic results were analyzed. RESULTS: Among 28 infants studied, nine were preterm and 19 were full-term. Median admission age was 13.5 days (IQR 6.5, 35), with a median hospital stay of 16 days (IQR 10.5, 30). Overall, 12 (42.9%) cases were complicated with multiple malformations. Abnormal muscle tone (53.6%) and neurological issues (42.9%) were notable prevalent in these infants. Cranial MR abnormalities were noted in 96.2% of cases. Based on the combined analysis of WES results and clinical phenotypes, a total of 22 (78.3%) patients displayed disease-related genetic variation identified through WES; among them, 15 (53.6%) patients received genetic diagnoses, while 7 (25%) patients were suspected diagnoses. Positive findings were more frequent in full-term (89.5%) than preterm infants (55.6%). Ultimately, 24 (85.7%) patients were discharged alive, with 75% requiring post-discharge tube feeding. Following discharge, five patients developed new symptoms linked to genetic variants, and two patients died. CONCLUSIONS: Feeding difficulty may constitute a facet of the phenotypic spectrum of rare genetic diseases. Whole-exome sequencing can enhance molecular diagnosis accuracy for infants with feeding difficulties.


Asunto(s)
Secuenciación del Exoma , Fenotipo , Humanos , Masculino , Femenino , Lactante , Recién Nacido , Anomalías Múltiples/genética , Anomalías Múltiples/patología
13.
Med Mycol ; 62(8)2024 Aug 02.
Artículo en Inglés | MEDLINE | ID: mdl-39174488

RESUMEN

The Trichophyton mentagrophytes complex comprises a group of dermatophyte fungi responsible for various dermatological infections. The increasing drug resistance of this species complex, especially terbinafine resistance of Trichophyton indotineae, is a major concern in dermatologist practice. This study provides a comprehensive analysis of T. mentagrophytes complex strains isolated from patients in Hue City, Vietnam, focusing on their phenotypic and genetic characteristics, antifungal susceptibility profiles, and molecular epidemiology. Keratinophilic fungi from dermatophytosis culture samples were identified morphologically and phenotypically, with species and genotypes confirmed by internal transcribed spacer sequencing and phylogenetic analysis. Antifungal susceptibility testing was carried out to evaluate their susceptibility to itraconazole, voriconazole, and terbinafine. The 24% (n = 27/114) of superficial mycoses were phenotypically attributed to T. mentagrophytes complex isolates. Trichophyton interdigitale, mainly genotype II*, was predominant (44.4%), followed by T. mentagrophytes genotype III* (22.2%), T. indotineae (14.8%), T. tonsurans (11.2%), and T. mentagrophytes (7.4%). While all isolates were susceptible to itraconazole and voriconazole, half of T. indotineae isolates exhibited resistance to terbinafine, linked to the Phe397Leu mutation in the SQLE protein. This study highlighted the presence of terbinafine-resistant T. indotineae isolates in Vietnam, emphasizing the need to investigate dermatophyte drug resistance and implement effective measures in clinical practice.


Species diversity within the Trichophyton mentagrophytes complex isolated from dermatophytosis in Hue City, Vietnam, was observed. Terbinafine-resistant T. indotineae isolates were detected for the first time in Vietnam, emphasizing the importance of implementing antifungal susceptibility testing to effectively manage and prevent the spread of resistant isolates.


Asunto(s)
Antifúngicos , Farmacorresistencia Fúngica , Genotipo , Pruebas de Sensibilidad Microbiana , Filogenia , Terbinafina , Tiña , Humanos , Vietnam , Antifúngicos/farmacología , Terbinafina/farmacología , Tiña/microbiología , Arthrodermataceae/efectos de los fármacos , Arthrodermataceae/genética , Arthrodermataceae/clasificación , Arthrodermataceae/aislamiento & purificación , Masculino , Análisis de Secuencia de ADN , Itraconazol/farmacología , ADN Espaciador Ribosómico/genética , Femenino , Persona de Mediana Edad , ADN de Hongos/genética , Epidemiología Molecular , Adulto , Trichophyton
14.
Abdom Radiol (NY) ; 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-39088018

RESUMEN

PURPOSE: The aim of this study was to investigate the clinical and multi-slice spiral computed tomography angiography (MSCTA) characteristics for the diagnosis of infected AAA. METHODS: This retrospective comparative study included patients who were diagnosed with AAA at our hospital between January 2014 and May 2023. RESULTS: A total of 40 patients were included, comprising 20 with infected AAA and 20 with non-infected AAA. Patients with infected AAA were more likely to be younger (62.9 ± 10.1 vs. 70.0 ± 4.4 years, P = 0.007) and to present with fever [7 (35%) vs. 1 (5%), P = 0.026], pain [15 (75%) vs. 2 (10%), P < 0.001], higher C-reactive protein levels (60.4 ± 57.0 vs. 4.1 ± 2.9 mg/l, P = 0.005), and higher erythrocyte sedimentation rates (47.7 ± 23.4 vs. 15.2 ± 8.3 mm/h, P < 0.001) compared to those with non-infected AAA. Moreover, those with infected AAA exhibited significantly more eccentric saccular morphology [17 (85%) vs. 1 (5%), P = 0.002], a smaller longitudinal-transverse ratio (1.12 ± 0.33 vs. 2.33 ± 0.54, P = 0.001), thicker peri-aneurysmal soft tissue (2.29 ± 1.48 vs. 0.73 ± 0.55 cm, P < 0.001), more lobulated margins [18 (90%) vs. 1 (5%), P = 0.001], lower aortic calcification scores (49 vs. 56, P < 0.001), more pneumatosis [6 (30%) vs. 0 (0%), P = 0.014], more ruptures [15 (75%) vs. 5 (20%), P = 0.002], more blurred peri-abdominal aortic fat spaces [16 (80%) vs. 2 (10%), P = 0.001], more adjacent bone destruction [5 (25%) vs. 0 (0%), P = 0.025], more involvement of the psoas major muscle [8 (40%) vs. 1 (5%), P = 0.005], more lymphadenectasis [8 (40%) vs. 1 (5%), P = 0.020], and less tortuous aortas [2 (10%) vs. 9 (45%), P = 0.034] compared with those with non-infected AAA. CONCLUSION: The clinical manifestations and MSCTA characteristics may differ between infected and non-infected AAA.

15.
J Neurodev Disord ; 16(1): 42, 2024 Jul 26.
Artículo en Inglés | MEDLINE | ID: mdl-39061009

RESUMEN

BACKGROUND: With the advent of the first targeted therapy for Rett Syndrome (RTT), a comprehensive assessment of the journey of RTT is needed to elucidate on present unmet needs in this population. This study characterized females with RTT in the United States and their disease journey with respect to longitudinal treatment patterns, RTT-related outcomes, and changes in disease severity. METHODS: This retrospective cohort study used registry data of females with RTT from the 5211 RTT Natural History Study (RNHS) (November 2015-July 2021). Pharmacological and supportive therapy use, RTT-related outcomes, and RTT severity, as measured by the Clinical Severity Scale and Motor Behavioral Assessment scale, were evaluated following the first RNHS visit. Analyses were conducted overall and in subgroups by RTT type (classic and atypical RTT) and age at first visit (pediatric and adult). RESULTS: A total of 455 females with RTT were included in the study, of whom 90.5% had classic RTT and 79.8% were pediatric individuals. Over a median follow-up of 4 years, use of pharmacological therapies, including prokinetic agents (42.7% vs. 28.3%), and supportive therapies, including physical therapy (87.3% vs. 40.2%) and speech-language therapy (86.8% vs. 23.9%), were more common in pediatric than adult individuals (all p < 0.05). Nearly half (44.6%) of all individuals had a hospital or emergency room visit, with a higher proportion of visits in individuals with classic RTT than atypical RTT and pediatric than adult individuals (both p = 0.001). An increasing trend in clinical severity was observed in pediatric individuals (mean change per year: 0.24; 95% confidence interval [CI]: 0.03, 0.44), while an increasing trend in motor-behavioral dysfunction was observed in pediatric individuals (mean change per year: 1.12; 95% CI: 0.63, 1.60) and those with classic RTT (mean change per year: 0.97; 95% CI: 0.53, 1.41). CONCLUSIONS: Findings from this study highlight the considerable burden of RTT across disease subtype and age. Despite reliance on supportive therapies and healthcare encounters, individuals with RTT experience increasing disease severity and motor-behavioral dysfunction in childhood and adolescence, underscoring the unmet needs of this population and the value of early intervention to manage RTT in the long-term.


Asunto(s)
Síndrome de Rett , Humanos , Síndrome de Rett/fisiopatología , Síndrome de Rett/terapia , Síndrome de Rett/complicaciones , Femenino , Estados Unidos/epidemiología , Adulto , Niño , Adolescente , Estudios Retrospectivos , Adulto Joven , Preescolar , Índice de Severidad de la Enfermedad , Sistema de Registros , Lactante , Bases de Datos Factuales
16.
Neurol Sci ; 2024 Jul 18.
Artículo en Inglés | MEDLINE | ID: mdl-39023713

RESUMEN

OBJECTIVES: This study aimed to analyze the clinical and multimodal imaging manifestations of adult-onset neuronal intranuclear inclusion disease (NIID) patients and to investigate NIID-specific neuroimaging biomarkers. METHODS: Forty patients were retrospectively enrolled from the Qilu Hospital of Shandong University. We analyzed the clinical and imaging characteristics of 40 adult-onset NIID patients and investigated the correlation between these characteristics and genetic markers and neuropsychological scores. We further explored NIID-specific alterations using multimodal imaging indices, including diffusion tensor imaging (DTI), magnetic resonance spectroscopy (MRS), and brain age estimation. In addition, we summarized the dynamic evolution pattern of NIID by examining the changes in diffusion weighted imaging (DWI) signals over time. RESULTS: The NIID patients' ages ranged from 31 to 77 years. Cognitive impairment was the most common symptom (30/40, 75.0%), while some patients (18/40, 45.0%) initially presented with episodic symptoms such as headache (10/40, 25.0%). Patients with cognitive impairment symptoms had more cerebral white matter damage (χ2 = 11.475, P = 0.009). The most prevalent imaging manifestation was a high signal on DWI in the corticomedullary junction area, which was observed in 80.0% (32/40) of patients. In addition, the DWI dynamic evolution patterns could be classified into four main patterns. Diffusion tensor imaging (DTI) revealed extensive thinning of cerebral white matter fibers. The estimated brain age surpassed the patient's chronological age, signifying advanced brain aging in NIID patients. CONCLUSIONS: The clinical manifestations of NIID exhibit significant variability, usually leading to misdiagnosis. Our results provided new imaging perspectives for accurately diagnosing and exploring this disease's neuropathological mechanisms.

17.
Cureus ; 16(6): e62687, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-39036282

RESUMEN

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare and fatal neurodegenerative disorder belonging to a group of diseases known as prion disease. Characterized by the formation of abnormal prion proteins in the brain, these conditions lead to tissue damage and vacuolation, giving the brain a sponge-like appearance. sCJD represents the most prevalent form of CJD, accounting for roughly 85% of all CJD cases. We report a case with unusual clinical manifestations. The patient experienced progressive neurological symptoms and MRI progression.

18.
World J Clin Cases ; 12(20): 4325-4330, 2024 Jul 16.
Artículo en Inglés | MEDLINE | ID: mdl-39015905

RESUMEN

BACKGROUND: Rectus sheath hematoma (RSH) is uncommon, and because people have limited knowledge about it, it is difficult to recognize the symptoms in time, often de-laying optimal treatment. CASE SUMMARY: Herein, we report a case of a 77-year-old female with RSH. The patient was treated at our hospital for coronavirus disease 2019. Anticoagulant treatment was administered during this period because of thrombosis. On the 8th d of treatment, the patient complained of abdominal pain. Ultrasonography revealed a solid cystic mass in the pelvic cavity. An emergency laparotomy was performed, and a huge hematoma was found in the deep layer of the rectus abdominis muscle. We used anticoagulants with caution based on the patient's condition. CONCLUSION: Optimal management of patients with RSH s depends on timely diagnosis and when to reintroduce anticoagulants.

19.
Heliyon ; 10(12): e33283, 2024 Jun 30.
Artículo en Inglés | MEDLINE | ID: mdl-39021926

RESUMEN

Burkholderia is a genus consisting of several species including the Burkholderia pseudomallei group, Burkholderia cepacia complex and other phytopathogens. Burkholderia species is a gram-negative bacillus with protean presentation that can be acquired from various sources, including water, soil, plant surfaces, and hospital environments. The organism on Gram staining is seen as gram-negative rod and on culture, the colonies are non-lactose fermenting. As it can mimic other diseases, it is frequently misdiagnosed and there is lack of awareness about the clinical spectrum of disease and diagnosis. This study aims to investigate varied clinical manifestations, identify potential risk factors and transmission modes and contribute to enhancing the clinical management of diseases. The increasing prevalence of Burkholderia infection implies its potential emergence as a significant public health concern, compounded by the growing incidence of diabetes, which has the potential to escalate the overall disease burden. The principal finding of the case series highlighted a spectrum of clinical presentations, emphasizing the need for comprehensive diagnostic strategies and tailored therapeutic interventions. These strategies will address the diverse manifestations and challenges posed by Burkholderia infections. This underscores the importance of heightened awareness among clinicians and microbiologists, given the need for extended treatment to achieve a complete cure and prevent potential relapses.

20.
Int J Emerg Med ; 17(1): 85, 2024 Jul 11.
Artículo en Inglés | MEDLINE | ID: mdl-38992604

RESUMEN

INTRODUCTION: Severe multisystem inflammatory syndrome in children (MIS-C) and severe dengue are challenging to identify during the COVID-19 pandemic in dengue-endemic areas. Fever, multiorgan involvement, and shock characterize both severe MIS-C and severe dengue. Distinguishing between the two diseases is beneficial in initiating proper management. METHODS: Medical records of children < 18 years old who were hospitalized at Hasan Sadikin General Hospital's PICU between December 2020 and July 2022 with severe MIS-C or severe dengue were recorded. Differences were assessed using comparative and descriptive analyses. RESULTS: Seventeen severe dengue patients and 4 severe MIS-C were included. The average age of severe MIS-C was 11.5 years (SD ± 2.9, 95% CI), and that of severe dengue patients was 6.2 years (SD ± 4.4, 95% CI) (p value = 0.034, 95%). Fever and abdominal pain were the most common symptoms in both groups (p = 0.471, 95% CI). Rash (p = 0.049) and nonpurulent conjunctivitis (p = 0.035) were two symptoms with significant differences. The highest platelet count (p-value = 0.006, 95% CI), AST (p-value = 0.026, 95% CI), and D-dimer level (p-value = 0.025, 95% CI) were significantly different between the two cohorts. Cardiac abnormalities were found in all (100%) severe MIS-C patients, but only one (5.9%) in severe dengue patients. CONCLUSION: Age, rash, nonpurulent conjunctivitis, platelet count, AST and D-dimer level may distinguish severe MIS-C from severe dengue fever.

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