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1.
BJU Int ; 2024 Sep 11.
Artículo en Inglés | MEDLINE | ID: mdl-39262180

RESUMEN

OBJECTIVES: To construct and externally calibrate a predictive model for early biochemical recurrence (BCR) after radical prostatectomy (RP) incorporating clinical and modern imaging characteristics of the primary tumour. PATIENTS AND METHODS: Patients who underwent RP following multiparametric magnetic resonance imaging, prostate biopsy and prostate-specific membrane antigen-positron emission tomography/computed tomography (PSMA-PET/CT), from two centres in Australia and the Netherlands. The primary outcome was biochemical recurrence-free survival (BRFS), where BCR was defined as a rising PSA level of ≥0.2 ng/mL or initiation of postoperative treatment per clinician discretion. Proportional hazards models to predict time to event were developed in the Australian sample using relevant pre- and post-surgical parameters and primary tumour maximum standardised uptake value (SUVmax) on diagnostic PSMA-PET/CT. Calibration was assessed in an external dataset from the Netherlands with the same inclusion criteria. RESULTS: Data from 846 patients were used to develop the models. Tumour SUVmax was associated with worse predicted 3-year BRFS for both pre- and post-surgical models. SUVmax change from 4 to 16 lessened the predicted 3-year BRFS from 66% to 42% for a patient aged 65 years with typical pre-surgical parameters (PSA level 8 ng/mL, Prostate Imaging-Reporting and Data System score 4/5 and biopsy Gleason score ≥4 + 5). Considering post-surgical variables, a patient with the same age and PSA level but pathological stage pT3a, RP Gleason score ≥4 + 5 and negative margins, SUVmax change from 4 to 16 lessened the predicted 3-year BRFS from 76% to 61%. Calibration on an external sample (n = 464) showed reasonable performance; however, a tendency to overestimate survival in patients with good prognostic factors was observed. CONCLUSION: Tumour SUVmax on diagnostic PSMA-PET/CT has utility additional to commonly recognised variables for prediction of BRFS after RP.

2.
Zhonghua Kou Qiang Yi Xue Za Zhi ; 59(9): 942-949, 2024 Sep 09.
Artículo en Chino | MEDLINE | ID: mdl-39289983

RESUMEN

Objective: To establish a human buccal mucosa squamous cell carcinoma (BMSCC) cell line SCC117 in China, analyze and identify its basic biological characteristics. Methods: A 59-year-old Chinese male patient with BMSCC in the Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology in January 2011 was included in this study, his surgical specimens were primary cultured in vitro by improved tissue block culture method. The BMSCC cell line SCC117 was established after continuous passage and stable growth. The morphological characteristics of the cells were observed by light and electron microscope, and their basic biological characteristics were analyzed by growth curve, chromosome karyotype and xenotransplantation tumorigenicity in nude mice experiment. The expressions of cytokeratin (CK14), tumor-related proteins retinoblastoma tumor suppressor protein (RB), P53, E-cadherin, P21, phosphatase and tensin homolog deleted on chromosome ten (PTEN) were detected by immunohistochemical and human papilloma virus (HPV) were tested by PCR. SCC117 was identified by short tandem repeat (STR) analysis of genomic DNA. Results: SCC117, a human BMSCC cell line, had been continuously subcultured in vitro for more than 150 generations. The cells grew in polygonal mosaic and lost contact inhibition, the typical desmosomes and tensional fibrils were observed by electron microscope, and CK14 was positive by immunohistochemistry. The doubling time was 40.16 h, the chromosome mode of the cell line was concentrated between 67 and 69, hypo-triploid. All 4 nude mice inoculated with SCC117 cells developed tumors, indicating that the SCC117 cell line had the ability of xenogeneic tumorigenesis. The histopathological type of the transplanted tumor in nude mice was consistent with that of the primary tumor tissue, both of which were squamous cell carcinoma. The immunohistochemical results showed that in both human primary tumor and the transplanted tumor tissue in nude mice, RB, P53, and E-cadherin were all positive, P21 was weakly positive, while PTEN was negative. SCC117 was tested negative for the presence of HPV. STR sequence analysis showed that SCC117 cell line originated from primary tumor tissue and was not cross-contaminated by other cell lines. Conclusions: The human BMSCC cell line SCC117 was successfully established in China, which could provide a new experimental model for the study of oral SCC without HPV infection, especially BMSCC.


Asunto(s)
Carcinoma de Células Escamosas , Ratones Desnudos , Mucosa Bucal , Humanos , Carcinoma de Células Escamosas/patología , Animales , Línea Celular Tumoral , Ratones , Mucosa Bucal/patología , Mucosa Bucal/citología , Masculino , Cadherinas/metabolismo , Persona de Mediana Edad , Neoplasias de la Boca/patología , Proteína p53 Supresora de Tumor/metabolismo , Trasplante de Neoplasias , Queratina-14/metabolismo , Papillomaviridae , Fosfohidrolasa PTEN
3.
J Stud Alcohol Drugs ; 2024 Sep 16.
Artículo en Inglés | MEDLINE | ID: mdl-39283107

RESUMEN

OBJECTIVE: Previous work has investigated parents' reports of motives for communicating with their young adults about alcohol. While parents' self-reported motives may predict intentions to communicate, young adults' perceptions of their parents' motives may be important for understanding young adults' responses to parent alcohol communication. The present study was conducted to explore college students' perceptions of their parents' motives for alcohol communication and to investigate whether perceptions of these motives predict changes in alcohol consumption and related consequences during the transition to college. METHOD: First-year college students (N = 306) participated in a longitudinal survey study. Baseline measures at pre-matriculation (T1) included assessments of student perceptions of their parents' motives for alcohol communication and covariates (e.g., perceived peer descriptive drinking norms, parental modeling and alcohol communication, and drinking and consequences). At a 1-month follow-up (T2), students reported on their alcohol use and consequences. RESULTS: Controlling for other predictors of college student drinking, results indicate that for each one-unit increase in perceived parental reactive communication motives, the incidence rate of typical weekly drinking increased by 9%, and heavy episodic drinking (HED) increased by 21%. Conversely, the incidence rate of HED decreased by 27% for each one-unit increase in perceived maternal family history communication motives. CONCLUSIONS: These findings suggest that college students' perceptions of their parents' motives for alcohol communication can significantly influence their drinking behavior during the transition to college.

4.
Artículo en Ruso | MEDLINE | ID: mdl-39269304

RESUMEN

Opsoclonus is oculomotor dyskinesia characterized by rapid, repetitive conjugate eye movements that are involuntary, arrhythmic, chaotic, and multidirectional (horizontal, vertical, and torsional components). Most common cause of the symptom is paraneoplastic process. It is combined with myoclonus usually with the development of opsoclonus-myoclonus syndrome. Viral etiology is one of the possible causes of the of this syndrome, which is presented in the following case. A 26-year-old man was admitted to an infectious hospital suspected by encephalitis. After a 2-day febrile fever the patient developed balance problem, nausea, vomiting, tremors in the limbs and head, sensations of jerking of eyeballs. The neurological examination revealed opsoclonus, myoclonic jerking in the limbs, neck and trunk muscles, severe static and dynamic ataxia, there was no consciousness changes or altered mental stature. Cerebrospinal fluid examination revealed a pleocytosis (24 cells), increased protein levels (1.1 g/l). MRI of the brain was normal. After excluding of typical neuroinfections the patient was tested for West Nile fever. Elevated titers of IgG and IgM for West Nile fever virus were detected, as well as positive PCR for virus RNA in the cerebrospinal fluid. Patient was treated by acyclovir, an antibiotic and dexamethasone but severe neurological symptoms were persisted for 2 weeks with inability of sitting and walking. Then the symptoms gradually began to improve, rehabilitation was included with total recovery during the next 2 months. The doctors should be aware for possibility of neuroinvasive form of West Nile fever as the etiology of opsoclonus-myoclonus syndrome.


Asunto(s)
Síndrome de Opsoclonía-Mioclonía , Fiebre del Nilo Occidental , Humanos , Masculino , Adulto , Síndrome de Opsoclonía-Mioclonía/etiología , Síndrome de Opsoclonía-Mioclonía/tratamiento farmacológico , Síndrome de Opsoclonía-Mioclonía/diagnóstico , Fiebre del Nilo Occidental/complicaciones , Fiebre del Nilo Occidental/diagnóstico , Virus del Nilo Occidental
5.
Ann Am Thorac Soc ; 2024 Sep 13.
Artículo en Inglés | MEDLINE | ID: mdl-39269367

RESUMEN

RATIONALE: The typical symptoms for primary ciliary dyskinesia (PCD) manifest after birth and in early infancy, however diagnosis is often not confirmed during infancy. There is currently a lack of evidence in PCD regarding the impact of the age of diagnosis on clinical outcomes. OBJECTIVE: To determine whether early diagnosis is related to improved long-term outcomes. METHOD: This was a retrospective study of patients diagnosed with PCD between 2000 to 2022. We divided our cohort to three groups according to the age of diagnosis. 1) early diagnosis (<1 year); typical diagnosis (1-7 years) and late diagnosis (8-14 years). We compared various clinical long-term outcomes between the groups. RESULTS: Over the study period, 110 patients were included in the analysis, with 41 patients in the early diagnosis group, 35 in the typical diagnosis group and 34 patients in the late diagnosis group. The presence of unexplained neonatal respiratory distress (NRDS) and organ laterality defect were higher in the early diagnosis group with rates between the early, typical, and late diagnosis groups for NRDS (80% vs 53% vs 61%, p=0.045) and laterality defect (64% vs 50% vs 18%, p<0.001). At the end of the first decade of life, patients in the early diagnosis and the typical age of diagnosis had better forced expiratory volume in 1 second (FEV1), compared to the late diagnosis group (93.5% and 93.1% vs 80.2%, P=0.002), respectively, but there was no significant change in the annual rate of decline between the groups once diagnosis was confirmed. Patient diagnosed late had significantly higher rates of pulmonary exacerbations (Pex) compared to typical age (1.95 vs 0.75 Pex/year, p<0.01) Conclusion: Late diagnosis (>8 years) was associated with lower FEV1 throughout childhood, although once diagnosed, the annual rate of decline was not different. These findings demonstrate the negative effect of delayed diagnosis in pediatric PCD.

6.
Am J Case Rep ; 25: e944024, 2024 Sep 08.
Artículo en Inglés | MEDLINE | ID: mdl-39244658

RESUMEN

BACKGROUND Pheochromocytoma, a rare catecholamine-secreting tumor, often presents with paroxysmal or sustained hypertension, tachycardia, headache, and diaphoresis. Timely diagnosis is essential to prevent adverse complications. Less common presentations include pheochromocytoma crisis, with severe neurological and cardiac complications. CASE REPORT We report a unique case of a 25-year-old woman who initially presented with pheochromocytoma-induced hypertensive encephalopathy and acute coronary syndrome. Echocardiography revealed takotsubo-like cardiomyopathy, and magnetic resonance imaging of the brain revealed posterior reversible encephalopathy syndrome. Initial treatment focused on controlling her blood pressure and supporting cardiac function. Due to her recovering from immediate crisis and absence of further symptoms, the patient refused further follow-up. However, she eventually experienced another episode of hypertensive crisis 2 years later. Subsequent investigations with 24-h urine tests revealed elevated vanillylmandelic acid levels (7.93 mg/24 h), normetanephrine (2638.72 µg/24 h), and nor-metanephrine to creatinine ratio (3546.67) and normal urine metanephrine levels (195.92 µg/24 h) and metanephrine to creatinine ratio (263.33). Contrast-enhanced computed tomography of the abdomen revealed a 4.3×3.1×4-cm mass in the right adrenal gland. A DOTATATE positron emission tomography scan revealed a 3.9×4.3×2.7-cm localized right adrenal pheochromocytoma. Biochemical testing and adrenal imaging revealed a previously undiagnosed pheochromocytoma. Following targeted medical therapy and right adrenalectomy, the patient achieved complete resolution of her hypertension and associated symptoms. CONCLUSIONS Our case is a unique simultaneous presentation of posterior reversible encephalopathy syndrome and takotsubo-like cardiomyopathy, highlighting the importance to consider pheochromocytoma in acute neurological and cardiac presentations, even in the absence of typical symptoms.


Asunto(s)
Neoplasias de las Glándulas Suprarrenales , Encefalopatía Hipertensiva , Feocromocitoma , Cardiomiopatía de Takotsubo , Humanos , Femenino , Feocromocitoma/complicaciones , Feocromocitoma/diagnóstico , Cardiomiopatía de Takotsubo/etiología , Cardiomiopatía de Takotsubo/diagnóstico , Neoplasias de las Glándulas Suprarrenales/complicaciones , Neoplasias de las Glándulas Suprarrenales/diagnóstico , Adulto , Encefalopatía Hipertensiva/etiología , Encefalopatía Hipertensiva/diagnóstico
7.
J Exp Child Psychol ; 247: 106057, 2024 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-39226857

RESUMEN

Negation-triggered inferences are universal across human languages. Hearing "This is not X" should logically lead to the inference that all elements other than X constitute possible alternatives. However, not all logically possible alternatives are equally accessible in the real world. To qualify as a plausible alternative, it must share with the negated element as many similarities as possible, and the most plausible one is often from the same taxonomic category as the negated element. The current article reports on two experiments that investigated the development of preschool children's ability to infer plausible alternatives triggered by negation. Experiment 1 showed that in a context where children were required to determine the most plausible alternative to the negated element, the 4- and 5-year-olds, but not the 3-year-olds, exhibited a robust preference for the taxonomic associates. Experiment 2 further demonstrated that the 3-, 4- and 5-year-olds considered all the complement set members as equally possible alternatives in a context where they were not explicitly required to evaluate the plausibility of different candidates. Taken together, our findings reveal interesting developmental continuity in preschool children's ability to make inferences about plausible alternatives triggered by negation. We discuss the potential semantic and pragmatic factors that contribute to children's emerging awareness of typical alternatives triggered by negative expressions.


Asunto(s)
Semántica , Humanos , Preescolar , Masculino , Femenino , Formación de Concepto , Desarrollo Infantil/fisiología , Factores de Edad , Desarrollo del Lenguaje
8.
Sci Rep ; 14(1): 21439, 2024 09 13.
Artículo en Inglés | MEDLINE | ID: mdl-39271742

RESUMEN

In this study, we successfully established a novel gallbladder cancer cell line, designated as GBC-X1, derived from a primary tumor of a gallbladder cancer patient. By comprehensively analyzing the cell line's phenotype, molecular characteristics, biomarkers, and histological characteristics, we confirmed that GBC-X1 serves as a valuable model for investigating the pathogenesis of gallbladder cancer and developing therapeutic agents. GBC-X1 has been continuously cultured for one year, with over 60 stable passages. Morphologically, GBC-X1 exhibits typical features of epithelial tumors. The population doubling time of GBC-X1 is 32 h. STR analysis validated a high consistency between GBC-X1 and the patient's primary tumor. Karyotype analysis revealed an abnormal hypertetraploid karyotype for GBC-X1, characterized by representative karyotypes of 98, XXXX del (4) p (12) del (5) p (21) der (10). Under suspension culture conditions, GBC-X1 efficiently forms tumor balls, while subcutaneous inoculation of GBC-X1 cells into NXG mice leads to xenograft formation with a rate of 80%. Drug sensitivity testing demonstrated that GBC-X1 is resistant to oxaliplatin and sensitive to 5-FU, gemcitabine, and paclitaxel. Immunohistochemistry revealed positive expression of CK7, CK19, E-cadherin, MMP-2, CD44, SOX2, and TP53 in GBC-X1 cells, weak positive expression of Vimentin, and a Ki67 positive rate of 35%. Our research highlights GBC-X1 as a novel gallbladder cancer cell line and emphasizes its potential as an effective experimental model for investigating the pathogenesis of gallbladder cancer and drug development.


Asunto(s)
Neoplasias de la Vesícula Biliar , Neoplasias de la Vesícula Biliar/patología , Neoplasias de la Vesícula Biliar/genética , Neoplasias de la Vesícula Biliar/metabolismo , Humanos , Animales , Línea Celular Tumoral , Ratones , Femenino , Cariotipificación , Resistencia a Antineoplásicos/genética , Proliferación Celular , Masculino , Antineoplásicos/farmacología , Ensayos Antitumor por Modelo de Xenoinjerto
9.
BMC Med Educ ; 24(1): 1009, 2024 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-39278899

RESUMEN

BACKGROUND: International students frequently face difficulties that are specific to the typical college experience, in addition to facing other factors of acculturative stress, including cultural differences, language barriers, and comfortability in accommodation. AIM: The study aims to measure the prevalence of acculturative stress among first-year international students enrolled at Faculty of Medicine in an Egyptian University and aims to reveal the factors that are associated with acculturative stress in these students. METHODOLOGY: A cross-sectional study was conducted on 422 international students in the academic year 2021-2022, using the Acculturative Stress Scale for International Students (ASSIS). The factors associated with acculturative stress were examined using the following criteria: comfort in accommodation, student adjustment to college, language proficiency, and academic pressure. RESULTS: This study showed that 28.7% of the international students were "above the warning sign" of acculturative stress (above 109). The major stressors of acculturative stress among international students were the non-specific concerns, homesickness, and perceived discrimination, while the least reported stressors were fear and guilt. International students who scored in the "above the warning sign" in the (ASSIS) were mostly females (35.3%) and non-Arab students (37.8%). Having a friend or a family member living in Egypt significantly reduced the level of acculturative stress. Moreover, the ASSIS total score showed a negative correlation with the scores for overall language proficiency, comfort in accommodation, academic adjustment, and student adjustment to college. CONCLUSION: Acculturative stress among the studied groups is influenced by several factors, including nationality, English and Arabic language proficiency, academic adjustment, and comfort of living. That being said, the most significant stressor is the country of origin, which is defined in terms of nationality or language proficiency. Consequently, resources that ensure the sustainability and growth of international students throughout their educational process must be made available to a multicultural environment in order to support and retain those students. CLINICAL TRIAL NUMBER: Not applicable.


Asunto(s)
Aculturación , Estrés Psicológico , Estudiantes de Medicina , Humanos , Egipto , Estudiantes de Medicina/psicología , Estudios Transversales , Femenino , Masculino , Estrés Psicológico/epidemiología , Adulto Joven , Universidades , Adulto
10.
Narra J ; 4(2): e755, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39280286

RESUMEN

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian aplasia, is a congenital condition characterized by uterine and upper vaginal aplasia. It affects females with a normal female karyotype and typical secondary sex characteristics. The aim of this case report was to highlight the multidisciplinary management approach for MRKH syndrome, focusing on tailored interventions to address physical and psychological challenges and improve reproductive prospects. A 26-year-old married female presented to Acharya Vinoba Bhave Rural Hospital (AVBRH), Sawangi, Wardha, India, in January 2023 with primary amenorrhea. Physical examination revealed a blind vagina and a hypoplastic uterus, indicative of MRKH syndrome. Further evaluation, including pelvic magnetic resonance imaging (MRI), confirmed Müllerian duct abnormalities and bilateral ovarian anomalies. The absence of a functional vagina significantly impacted the patient's quality of life, leading to difficulties with sexual intercourse and emotional distress related to infertility. A collaborative approach involving a gynecologist and a psychiatrist at AVBRH was initiated to address these challenges. The patient underwent vaginoplasty to create a neovagina, enhancing the sexual function and intimate relationship with the spouse. However, due to the hypoplastic uterus, achieving motherhood through traditional means was not possible. Therefore, assisted reproductive techniques, in particular surrogacy, were explored. Normal, functional ovaries were harvested from the patient for use in surrogacy procedures. This comprehensive management strategy exemplifies the challenges associated with MRKH syndrome and underscores the importance of tailored interventions and long-term follow-up. The case highlights the significance of collaborative care in improving the quality of life and reproductive prospects for individuals with MRKH syndrome.


Asunto(s)
Trastornos del Desarrollo Sexual 46, XX , Anomalías Congénitas , Conductos Paramesonéfricos , Vagina , Humanos , Femenino , Conductos Paramesonéfricos/anomalías , Conductos Paramesonéfricos/cirugía , Trastornos del Desarrollo Sexual 46, XX/cirugía , Trastornos del Desarrollo Sexual 46, XX/complicaciones , Adulto , Anomalías Congénitas/terapia , Vagina/anomalías , Vagina/cirugía , India , Calidad de Vida , Útero/anomalías , Imagen por Resonancia Magnética
11.
SAGE Open Med Case Rep ; 12: 2050313X241277350, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39280333

RESUMEN

ATRX gene (alpha-thalassemia mental retardation X-linked) encodes for a chromatin remodeler and regular transcription protein, part of the SNF2 family of chromatin remodeling proteins. Mutations in this gene have been associated with severe syndromes, including intellectual disability, typical facial dysmorphia, urogenital anomalies, and atypical alpha thalassemia. In this report, we present a 7-year-old Moroccan boy with severe intellectual disability, autistic features, typical facial dysmorphia, bilateral cryptorchidism, and scoliosis. Whole exome sequencing identified a missense variant of uncertain significance in the ATRX gene (NM_000489.3: c.745G>A). In silico tools strongly predict the pathogenicity of this variant. Moreover, this variant occurs in a highly conserved domain, potentially affecting the function of the encoded protein, and the glycine at position 249 is well conserved across different species. Further studies are needed to confirm the pathogenicity of this novel variant to establish adequate genetic counseling.

12.
Cureus ; 16(8): e66835, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39280452

RESUMEN

Granulomatosis with polyangiitis (GPA) is a form of ANCA-associated vasculitis characterized by necrotizing vasculitis affecting small blood vessels. The clinical presentation varies based on organ involvement, commonly affecting the upper and lower respiratory tracts and kidneys. Typical GPA presents as recurrent sinus infection, otitis media, dyspnea, chest pain, and glomerulonephritis, which can present as hematuria, proteinuria, and elevated serum creatinine. ANCA tests positive in the majority of cases. Treatment strategies involve induction of remission and maintenance therapy. We report a case of a 48-year-old female presenting with a hypertensive emergency, a rarely reported manifestation of GPA. She initially presented with severe headache and cough, with systolic blood pressure exceeding 220 mmHg, necessitating hospital admission. The initial workup revealed elevated serum creatinine and CT chest findings suggestive of multi-lobar pneumonia, for which she received antibiotic treatment. Despite aggressive antihypertensive therapy, her blood pressure remained refractory, and she developed hematuria and anemia, requiring a blood transfusion. Further evaluation revealed a history of joint pain, recurrent sinus infections, and a pruritic skin rash, prompting suspicion of vasculitis. Further work-up included elevated erythrocyte sedimentation rate (ESR), normal IgE, absence of eosinophilia, and positive PR3 antibodies and c-ANCA. Prompted by clinical suspicion, treatment with steroids was initiated, and a kidney biopsy confirmed acute necrotizing pauci-immune glomerulonephritis consistent with GPA. Subsequently, rituximab therapy was initiated, resulting in significant improvement in her clinical symptoms and blood pressure, and the patient was successfully discharged home. This case highlights a rare presentation of GPA as a hypertensive emergency, possibly linked to renal involvement in the form of glomerulonephritis. Pulmonary manifestations mimicking infections posed diagnostic challenges. Cutaneous findings potentially associated with increased joint and renal involvement underscore the clinical complexity of GPA. The unusual presentation of hypertensive emergency in young patients underscores the need for heightened awareness of this potential manifestation in GPA. Early recognition and aggressive immunosuppressive therapy are crucial to mitigate irreversible renal damage in such atypical presentations.

13.
Cureus ; 16(8): e66885, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39280472

RESUMEN

Ocular myasthenia gravis (OMG) is a neuromuscular disease characterized by the production of autoantibodies against post-synaptic proteins at the neuromuscular junction (NMJ). An 18-year-old male who had symptoms of drooping eyelids and double vision was diagnosed with ocular myasthenia gravis on investigations and examinations. Treatment was initiated with a tablet of pyridostigmine 60 mg twice daily per oral for two weeks, followed by three times daily for four weeks. The patient demonstrated significant improvement in ptosis and diplopia. There are still a considerable number of challenges in the diagnosis and treatment of ocular myasthenia gravis, with the typical treatment involving acetylcholinesterase inhibitors and immunosuppressants.

14.
Cureus ; 16(8): e66819, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39280482

RESUMEN

Mucopolysaccharidosis (MPS) consists of a heterogeneous group of multisystem disorders that are usually inherited. This spectrum consists of seven subtypes in total. Sly syndrome, also known as type VII MPS, is a multisystem disorder with a wide array of symptoms that overlap with other mucopolysaccharide disorders. Diagnosis of Sly syndrome relies on metabolic and radiological criteria. This report presents a case of a 19-year-old male who presented with seizures as his chief complaint. By metabolic workup done previously, he was diagnosed with Sly syndrome, an autosomal recessive mucopolysaccharide syndrome. This case underscores various multisystem features associated with the disease; however, it mainly highlights and emphasizes the diverse neurological features, including typical and atypical neuroimaging in Sly syndrome, aiding in its characterization, early diagnosis, and management.

15.
Front Oncol ; 14: 1412225, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39281378

RESUMEN

Epithelioid inflammatory myofibroblastic sarcoma (EIMS) is an extremely rare and aggressive form of inflammatory myofibroblastic tumor. Clinically, it has a high risk of relapse and peripheral organ infiltration, and it responds poorly to conventional chemotherapy. Anaplastic lymphoma kinase (ALK) inhibitors are currently the most effective targeted therapy for EIMS. This report discusses a typical case of abdominal EIMS in a 43-year-old woman. The tumors recurred rapidly within one month after surgery. Alectinib was promptly administered upon diagnosis. However, the patient developed a severe allergic reaction to the medication. After a comprehensive assessment and symptomatic treatment, her condition stabilized, leading to a favorable prognosis. This study summarizes cases of abdominal EIMS, highlights the successful use of Alectinib for treatment, and discusses the management of medication-related complications.

16.
Case Rep Surg ; 2024: 4408980, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39281804

RESUMEN

Traumatic abdominal wall hernia (TAWH) is a rare type of hernia with an incidence of about <1.5%, resulting from blunt abdominal trauma, which leads to an increase in the intra-abdominal pressure and rupture in the abdominal musculature and fascia with herniation of the abdominal organs into the defect. Most TAWH contained either a small bowel (69%) or a large bowel (36%), with 16% containing both. This condition is often not present as an isolated case, as 30% to 60% of the cases are accompanied by other intra-abdominal injuries. The typical manner of presentation is a tender subcutaneous swelling across the abdomen wall with overlaying bruising and ecchymosis. The radiological investigative modality of CT scan has the highest index of diagnosing accompanied intra-abdominal visceral injuries. We present a rare case of a 23-year-old male patient diagnosed with TAWH containing both small bowel and sigmoid colon associated with psoas hematoma caused by a seat belt postroad traffic accident (RTA).

17.
Am Heart J Plus ; 45: 100448, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39282012

RESUMEN

Study objective: The aim was to quantify and compare the environmental and financial impact of two diets: a heart-healthy Australian diet (HAD) and the typical Australian diet (TAD). Design: The study involved a secondary analysis of two modelled dietary patterns used in a cross-over feeding trial. Setting: The evaluation focused on two-week (7-day cyclic) meal plans designed to meet the nutritional requirements for a reference 71-year-old male (9000 kJ) for each dietary pattern. Main outcome measures: The environmental footprint of each dietary pattern was calculated using the Global Warming Potential (GWP*) metric, taking into account single foods, multi-ingredient foods, and mixed dishes. Prices were obtained from a large Australian supermarket. Results: The HAD produced 23.8 % less CO2 equivalents (CO2e) per day (2.16 kg CO2e) compared to the TAD (2.83 kg CO2e per day). Meat and discretionary foods were the primary contributors to the environmental footprint of the TAD, whereas dairy and vegetables constituted the largest contributors to the HAD footprint. However, the HAD was 51 % more expensive than the TAD. Conclusion: Transitioning from a TAD to a HAD could significantly reduce CO2 emissions and with benefits for human health and the environment. Affordability will be a major barrier. Strategies to reduce costs of convenient healthy food are needed. Future studies should expand the GWP* database and consider additional environmental dimensions to comprehensively assess the impact of dietary patterns. Current findings have implications for menu planning within feeding trials and for individuals seeking to reduce their carbon footprint while adhering to heart-healthy eating guidelines.

18.
Cureus ; 16(9): e69399, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39282481

RESUMEN

Mucormycosis is a rapidly progressive fungal infection that typically affects immunocompromised patients and diabetics. These fungi are found in soil and vegetation and can be easily inhaled by humans in day-to-day life; however, infection is rare unless specific risk factors are present. This case report presents a typical case of a 39-year-old male with poorly controlled type 1 diabetes mellitus. Initially presenting with a toothache in the upper molars, the infection quickly progressed to sinusitis, necrosis, and multiorgan failure. Based on our experience, prompt recognition of mucormycosis in risk-group patients is essential for improving future outcomes.

19.
Virol J ; 21(1): 221, 2024 Sep 16.
Artículo en Inglés | MEDLINE | ID: mdl-39285293

RESUMEN

BACKGROUND: Elephant endotheliotropic herpesvirus (EEHV) infection is the most common cause for lethal hemorrhagic disease in captive juvenile Asian elephants (Elephas maximus). Although EEHV1 is known as the most likely cause of fatal haemorrhagic disease in Asian elephants, EEHV5 was lately involved in lethal cases of haemorrhagic disease in captive elephants. CASE PRESENTATION: Here we report the first death of a four-year old Asian elephant diagnosed with EEHV5 in Germany. Molecular diagnosis yielded detection of EEHV5 DNA in all tested tissues. Histopathological examination revealed typical features of hemorrhagic disease in all examined organs. EEHV5 was sequenced from total DNA isolated from heart tissue by Illumina and Nanopore sequencing. Sequencing data showed 3,881 variants, distributed across the entire genome, compared to the published EEHV5 sequence. CONCLUSIONS: We have detected EEHV5 in a fatal disease case of a male Asian elephant. Whole genome sequencing revealed substantial differences of our DNA isolate compared to available EEHV5 sequences. This report of fatal haemorrhagic disease associated with EEHV5 infection should raise awareness for EEHV5 as an important elephant pathogen. Genome sequencing and downstream SNPs analysis will further encourage future research to understand genetic diversity, pathogenesis and virulence of EEHVs with respect to developing new diagnostic methods, prophylactic strategies, and implementation of surveillance and control measures.


Asunto(s)
Elefantes , Infecciones por Herpesviridae , Herpesviridae , Animales , Elefantes/virología , Infecciones por Herpesviridae/veterinaria , Infecciones por Herpesviridae/virología , Alemania , Masculino , Resultado Fatal , Herpesviridae/genética , Herpesviridae/aislamiento & purificación , Herpesviridae/clasificación , ADN Viral/genética , Genoma Viral/genética , Filogenia , Análisis de Secuencia de ADN , Variación Genética , Secuenciación Completa del Genoma
20.
Radiol Case Rep ; 19(11): 5447-5451, 2024 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-39285977

RESUMEN

Struma ovarii is a mature ovarian teratoma characterized by the predominant presence of thyroid-tissue components. Typically, struma ovarii presents as relatively small masses (<10 cm) that often appear as multilocular cystic tumors with solid components. Herein, we report the unique case of a 44-year-old female with a large tumor including a solid mass. The solid components of the tumor comprised typical thyroid tissues with multiple small cystic structures containing colloid-like material. Given the rarity of struma ovarii, atypical imaging features can sometimes be misleading. This article highlights the unusual magnetic resonance imaging characteristics of a large struma ovarii, with a specific focus on the presence of solid components.

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