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Introdução: A lombalgia é uma condição prevalente e que apresenta importante impacto na capacidade funcional e na qualidade de vida, sendo a sua correta abordagem na Atenção Primária à Saúde fundamental para a identificação e o estabelecimento de um diagnóstico etiológico precoce de possíveis patologias que possam estar relacionadas a desfechos mórbidos e a graves limitações funcionais. Apresentação do caso: Paciente de 56 anos, sexo masculino, hipertenso, foi encaminhado para serviço especializado de reumatologia com histórico de lombalgia havia mais de 20 anos. Ao exame físico foi constatada presença de deformidades da coluna vertebral e extensa limitação de movimentos. Exames radiográficos mostravam esclerose de articulações sacroilíacas, osteopenia difusa e coluna vertebral em aspecto de "bambu". Conclusões: Constata-se a importância de que na abordagem das lombalgias na atenção primária se busque o reconhecimento de possíveis etiologias graves e potencialmente incapacitantes que possam estar subjacentes à queixa de dor lombar. Com esse objetivo, é fundamental o reconhecimento das chamadas red flags relacionadas às lombalgias, além de sua caracterização como mecânica ou inflamatória. Perante a atuação da atenção primária no oferecimento de um cuidado pautado na integralidade e na prevenção de agravos, reafirma-se a importância de uma avaliação clínica pormenorizada das lombalgias nesse nível de atenção à saúde.
Introduction: Low back pain is a prevalent condition that has an important impact on functional capacity and quality of life, and its correct approach in Primary Care is fundamental to the identification and establishment of an early etiological diagnosis of possible pathologies that may be related to outcomes morbid conditions and serious functional limitations. Case presentation: 56-year-old male patient, hypertensive, referred to a specialized rheumatology service with a history of low back pain for over 20 years. Physical examination revealed the presence of spinal deformities and extensive movement limitations. Radiographic examinations showing sclerosis of the sacro-iliac joints, diffuse osteopenia and a "bamboo" appearance of the spine. Conclusions: It is important that in the approach of low back pain in Primary Care, we seek to recognize possible serious and potentially disabling etiologies that may underlie the complaint of low back pain. For that, it is essential to recognize the so-called "red flags" related to low back pain, in addition to its characterization as mechanical or inflammatory. Given the role of Primary Care in offering care based on integrality and in the prevention of injuries, the importance of a detailed clinical assessment of low back pain at this level of health care is reaffirmed.
Introducción: La lumbalgia es una patología prevalente que tiene un impacto importante en la capacidad funcional y la calidad de vida, y su correcto abordaje en Atención Primaria de Salud es fundamental para la identificación y establecimiento de un diagnóstico etiológico precoz de posibles patologías que puedan estar relacionadas con los resultados, condiciones morbosas y limitaciones funcionales graves. Presentación del caso: Paciente masculino de 56 años, hipertenso, remitido a servicio especializado de reumatología con antecedentes de dolor lumbar de más de 20 años. El examen físico reveló la presencia de deformidades de la columna y amplias limitaciones de movimiento. Los exámenes radiológicos muestran esclerosis de las articulaciones sacroilíacas, osteopenia difusa y una apariencia de "bambú" de la columna. Conclusiones: Es importante que al abordar la lumbalgia en Atención Primaria de Salud busquemos reconocer las posibles etiologías graves y potencialmente incapacitantes que pueden subyacer a la queja de lumbalgia. Con este objetivo, es fundamental reconocer las llamadas "banderas rojas" relacionadas con la lumbalgia, además de su caracterización como mecánica o inflamatoria. Dado el papel de Atención Primaria de Salud a la hora de ofrecer una atención basada en la integralidad y prevención de enfermedades, se reafirma la importancia de una evaluación clínica detallada de la lumbalgia en este nivel de atención sanitaria.
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Atención Primaria de Salud , Informes de Casos , Enfermedades Musculoesqueléticas , Dolor de la Región LumbarRESUMEN
Introdução: Acidentes ofídicos são doenças negligenciadas e constituem uma parcela importante da morbidade de pessoas em idade produtiva que vivem em zonas rurais. A maior parte dos seus efeitos a curto prazo é amplamente conhecida, especialmente aqueles de natureza clínica; no entanto, ainda se observa lacuna importante do conhecimento das consequências a longo prazo de tais agravos, notadamente as de ordem psíquica. Este artigo relata um caso de adoecimento mental subsequente a um acidente crotálico e gera reflexões de âmbito cultural e fisiopatológico a respeito das sequelas de tais eventos. Apresentação do caso: Trata-se de adolescente residente no interior baiano que foi vítima de mordedura por cascavel e teve necessidade de hospitalização em unidade de terapia intensiva. Observou-se que, mesmo após melhora clínica, iniciou com sintomas psicóticos prodrômicos e progrediu para piora mental grave, que culminou em internação psiquiátrica e diagnóstico de esquizofrenia no decorrer dos meses seguintes. Conclusões: Nota-se, neste caso, correlação direta entre esses dois eventos; mas, em razão da escassez de trabalhos científicos que abordem tais questões, depreende-se que é preciso investigar e estudar com maior profundidade possíveis associações entre acidentes crotálicos e psicoses.
Introduction: Snakebites are neglected diseases and constitute an important part of the morbidity of working-age people who live in rural areas. Most of their short-term effects are widely known, especially those of a clinical nature; however, there is still an important gap in the knowledge of the long-term consequences of such injuries, notably those of a psychotic nature. This article aims to report a case of mental illness subsequent to a rattlesnake bite accident and generate cultural and pathophysiological reflections regarding the consequences of such events. Case presentation: An adolescent residing in the interior of the state of Bahia was bitten by a rattlesnake and required hospitalization in an intensive care unit. It was observed that even after clinical improvement, the case started with prodromal psychotic symptoms and progressed to severe mental deterioration that culminated in psychiatric hospitalization and diagnosis of schizophrenia over the following months. Conclusions: In this case, there was a direct correlation between these two events, but because of the scarcity of scientific works that address such issues, it is necessary to investigate and study in greater depth possible associations between snakebite accidents and psychoses.
Introducción: Las mordeduras de serpientes son enfermedades desatendidas y constituyen una parte importante de la morbilidad de las personas en edad laboral que viven en zonas rurales. La mayoría de sus efectos a corto plazo son ampliamente conocidos, especialmente los de carácter clínico; sin embargo, todavía existe un importante vacío en el conocimiento de las consecuencias a largo plazo de este tipo de lesiones, en particular las de carácter psíquico. Este artículo tiene como objetivo informar un caso de enfermedad mental posterior a un accidente crotálico y generar reflexiones culturales y fisiopatológicas sobre las consecuencias de tales eventos. Presentación del caso: Se trata de un adolescente residente en el interior de Bahía que fue mordido por una serpiente cascabel y requirió hospitalización en unidad de cuidados intensivos. Se observó que, aún después de la mejoría clínica, comenzó con síntomas psicóticos prodrómicos y progresó a un deterioro mental severo que culminó con hospitalización psiquiátrica y diagnóstico de esquizofrenia en los meses siguientes. Conclusiones: En este caso, existe una correlación directa entre estos dos eventos pero, debido a la escasez de trabajos científicos que aborden tales cuestiones, parece necesario investigar y estudiar con mayor profundidad posibles asociaciones entre accidentes crotálicos y psicosis.
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Humanos , Animales , Trastornos Psicóticos , Mordeduras de Serpientes , Informes de Casos , Crotalus , FolcloreRESUMEN
Desmoplastic fibroma (DF) is a benign yet locally aggressive intraosseous tumour rarely encountered in the mandible. It often mimics other oral lesions. Familial adenomatous polyposis (FAP) is a condition in which individuals tend to develop multiple colorectal polyps, which may convert to colorectal cancer unless treated. FAP has various colonic and extra-colonic manifestations, including oral manifestations. A case of DF of the mandible in a 5-year-old child is presented here. The patient remained free of recurrence 4 years after segmental resection and immediate reconstruction with a fibula free flap. Subsequent genetic testing revealed FAP, implicating DF as an early oral manifestation. A review of the existing literature emphasizes the challenges in diagnosing DF and its association with FAP, stressing the importance of comprehensive assessment and genetic screening in suspected cases.
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Isolated cuboid dislocation without fracture is a rare injury, and there is a lack of literature describing its treatment. Studies report the use of closed or open reduction, with Kirschner wire fixation in the treatment of these injuries. This case report presents the clinical condition of a 24-year-old male patient who arrived at the emergency department with an isolated dislocation of the right foot cuboid bone without the presence of a fracture, after suffering trauma during a football game. Open reduction was performed in the surgical center with stabilization and fixation using a Kirschner wires. The patient showed an excellent response to the treatment, with no loss of the foot's range of motion.
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Osteophytes grow on vertebral bodies and sometimes form a sharp edge, which can induce traumatic abdominal aortic injury (TAAI). However, these cases are extremely rare, although osteophytes grow in almost everyone with age. Herein, we report a rare case of TAAI due to a sharp osteophyte dislocation following a compression fracture, with a literature review. An 83-year-old man presented with back pain after a fall and subsequently developed shock. His lactate level was elevated on arrival, although we could not identify the cause of the shock. Enhanced computed tomography (CT) revealed a compression fracture of the lumbar spine, a sharp osteophyte penetrating the abdominal aorta, and contrast media spurting to the retroperitoneum. We immediately transfused, administered continuous noradrenaline to maintain his vital signs, and consulted a vascular surgeon and radiologist to arrange for an emergency operation. However, the operating room was not immediately available. We tried to evacuate a trauma center, which took time due to the COVID-19 outbreak. Thereafter, the patient's condition deteriorated, resulting in a pulseless electrical activity, and he passed away 3 h after arrival. Afterward, the previous CT image and a sharp osteophyte were observed in the lumbar vertebrae in contact with the abdominal aorta. There were only eight reports where the aorta was injured by osteophytes. From our review, unlike the proportion of common TAAI, injuries due to strong external forces were relatively small. There was no specific symptom, and the vertebral levels of osteophytes were concentrated in Th12-L3. The most common morphology of aorta injuries is pseudoaneurysm formation. Moreover, five of the patients developed hemorrhage. Considering these previous reports, we should pay attention to the aorta in front of the vertebral bodies regardless of the mechanism of injury when a CT image of patients shows osteophytes.
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Epicardial connections provided the anatomical substrate for the biatrial reentry circuit. The connections between the right atrium and right pulmonary vein were called "intercaval bundle," and there are few reports of atrial flutter related to this bundle. We present a case of a biatrial tachycardia, involving the intercaval bundle.
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Background: Coronary spastic angina (CSA) in premenopausal women is not frequent but has also been suggested to be associated with oestrogen decline during the menstrual cycle and sometimes becomes refractory and difficult to control. We experienced two premenopausal women with CSA that showed the involvement of the menstrual cycle. Case summary: Case 1: 41-year-old-woman had ST-segment elevation and chest pain during urosepsis, just 2 days after the onset of menstruation. The acetylcholine stress test was performed according to the menstrual cycle, and multiple coronary spasms were induced. Case 2: 40-year-old-woman had refractory chest pain as a symptom of premenstrual syndrome (PMS). Coronary angiography on drugs at the maximum dose revealed spontaneous multiple coronary spasms. Blood levels of oestrogen were normal, suggesting that hormonal change may be involved, and the introduction of low-dose pills made free from angina and the reduction of drug dose. Discussion: In premenopausal female angina pectoris, oestrogen may play a role; it is important to ask about the menstrual cycle and history of PMS. Besides, the timing of catheterization in premenopausal women with suspected CSA should be considered. Low-dose pills may be effective in some cases, and active medical collaboration with other departments such as gynaecology is desirable.ã.
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There have been many studies on the adverse effects of coronavirus disease 2019 (COVID-19) vaccines but the urinary incontinence after COVID-19 vaccination is rare. Here, we report an 8-year-old boy presented to outpatient department, Thai Binh University of Medicine Hospital, Thai Binh, Vietnam with complaints of urinary incontinence for the past 2 weeks, following the first dose of the messenger RNA vaccine. He had no other abnormalities in clinical and laboratory exams. This clinical situation suggested vaccine side effects. No specific treatment was administered upon diagnosis without toilet and bladder training. Subsequent monitoring revealed a gradual reduction in symptoms over 2 months, with complete recovery achieved at the 14th week from the onset of symptoms, without necessitating any medical intervention. This case highlights the need for thorough evaluation and assessment of potential adverse effects following vaccination, including uncommon presentations.
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Background: Formaldehyde was classified as a Group I Carcinogen by the International Agency for Research on Cancer (IARC) in 2006. While the IARC has stated that there is a lack of evidence that formaldehyde causes brain cancer, three meta-analyses have consistently reported a significantly higher risk of brain cancer in workers exposed to high levels of formaldehyde. Therefore, we report a case of a worker who was diagnosed with glioblastoma after being exposed to high concentrations of formaldehyde while working with formaldehyde resin in the paper industry. Case presentation: A 40-year-old male patient joined an impregnated paper manufacturer and performed impregnation work using formaldehyde resin for 10 years and 2 months. In 2017, the patient experienced a severe headache and visited the hospital for brain magnetic resonance imaging, which revealed a mass. In the same year, the patient underwent a craniotomy for brain tumor resection and was diagnosed with glioblastoma of the temporal lobe. In 2019, a craniotomy was performed owing to the recurrence of the brain tumor, but he died in 2020. An exposure assessment of the work environment determined that the patient was exposed to formaldehyde above the exposure threshold of 0.3 ppm continuously for more than 10 years and that he had high respiratory and dermal exposure through performing work without wearing a respirator or protective gloves. Conclusions: This case report represents the first instance where the epidemiological investigation and evaluation committee of the Occupational Safety and Health Research Institute in Korea recognized the scientific evidence of work-related brain tumors due to long-term exposure to high concentrations of formaldehyde during impregnated paperwork. This case highlights the importance of proper workplace management, informing workers that prolonged exposure to formaldehyde in impregnation work can cause brain tumors and minimizing exposure in similar processes.
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Streptococcus suis (S. suis) is a Gram-positive bacterium and the main culprit behind zoonotic outbreaks, posing a serious threat to public health. The prevalent strains in China are mainly of sequence types (ST) 1 and 7, with few cases of human infections caused by other sequence type being reported. This study presents the first isolation of a ST25 strain from the blood of a septicemic patient. A 57-year-old febrile patient was admitted to a hospital in Hainan of China, diagnosed as septicemia and hepatic dysfunction. A strain of S. suis was isolated from blood culture and confirmed to be serotype 2 and ST25 through 16S rRNA sequencing and whole-genome sequencing, and its genome was further analyzed for gene functions and presence of drug resistance genes. The full-length genome of strain HN28 spans 2,280,124 bp and encodes a total of 2291 proteins. Genes annotated in COG, GO, KEGG, CAZy, and PHl databases accounted for 75.38 %, 69.14 %, 55.35 %, 4.58 %, and 11.87 % of the total predicted proteins, respectively. Virulence factor analysis revealed the presence of seven putative virulence genes in strain HN28. Analysis using the CARD database identified 51 resistance genes in HN28, alongside abundant exocytosis systems. These findings underscore the occurrence of S. suis infections in humans caused by less common ST, emphasizing the need for enhanced epidemiological investigations and monitoring of S. suis infections in the human population.
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This paper presents a novel approach to the correction of zygomatic malposition and secondary reconstruction orbital floor fractures, highlighting the use of hydrated acellular dermal matrix (ADM), specifically CGDerm One-Step, in a case where traditional solid implants failed to maintain structural integrity and volume. A 27-year-old woman with persistent facial deformities following a traumatic incident underwent a transformative procedure that utilized ADM for volume correction and structural support, addressing significant challenges such as enophthalmos and facial contour depression. This approach was necessitated by the descent of the entire orbital floor and a previously placed implant (Medpor), leading to unsatisfactory volume correction. By integrating ADM with titanium-reinforced fan plates (Synpor), the surgery successfully restored the patient's facial symmetry and addressed her functional concerns, including diplopia and limited eye movement. Postoperative evaluations demonstrated the long-term effectiveness of this method, with significant improvements in facial contour and eye symmetry. Our findings suggest that ADM, particularly in its hydrated form, offers a reliable alternative to traditional bone grafts and implants for correcting complex craniofacial deformities, providing both aesthetic and functional benefits. This case underscores the importance of adaptable, tissue-mimicking materials in facial reconstructive surgery, offering insights into their potential for broader application in post-traumatic facial corrections.
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We report a case of a 12-years-old boy that underwent anterior cruciate ligament (ACL) reconstruction and lateral meniscus repair. The all-epiphyseal, all-inside technique, with quadriceps tendon autograft and adjustable suspensory button fixation was utilized due to the open physes. Intraoperative fluoroscopy confirmed optimal position of the buttons, while arthroscopic evaluation of the graft showed proper tension, with full range of motion and knee stability. Nevertheless, routine radiographic evaluation of the knee, 6 âh postoperatively, revealed tibial button migration through the tunnel into the knee joint, while the knee was unstable in clinical examination. The graft was removed and reloaded with extended buttons. The femoral socket was retained in the revision surgery while a new tibial socket was drilled with the transphyseal technique (all-inside technique). The postoperative course was uneventful. The patient returned to unrestricted activities at twelve months after revision surgery and remains fully active two years postoperatively. This is the first case of tibial button migration reported in the literature, with immediate migration after surgery, intra-articular position of the button and negative impact on graft tension. Failure to recognize and treat this detrimental complication could be catastrophic for the knee. The technique of the surgical treatment is also described. Surgeons should be aware of this rare complication, that could adversely affect the clinical outcome.
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Key Clinical Message: This report presents a rare case of invasive infection caused by Enterococcus cecorum. There are no specific guidelines regarding antibiotic therapy for this infection. Based on this case, it can be concluded that linezolid demonstrates in vivo activity against Enterococcus cecorum and can be successfully used in therapy. Abstract: Enterococcus cecorum is an extremely rare pathogen in humans. Since 1984, when the microorganism was first described, only a dozen cases of invasive infections in humans have been reported in the literature. The diagnostic pathway may involve difficulties in correctly identifying this microorganism. Based on the case described, it can be thought that Enterococcus cecorum is a more challenging bacterium than the much more common Enterococcus faecium or Enterococcus faecalis. The described case underscores the importance of medical vigilance in clinical practice. It seems that due to increasingly advanced techniques in molecular biology, we will more frequently detect pathogens that were previously encountered only sporadically. Since not every center has access to modern and advanced microbiological diagnostic methods, publications that practically combine classical microbiological diagnostic methods with those less accessible but more modern are exceptionally valuable. In the case described, it is also worth noting that classical methods still play a significant and crucial role in conducting microbiological diagnostics. In the era of rapid diagnostic tool development, it is important to emphasize the necessity of combining different methods rather than replacing one with another.
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A 47-year-old man with over 10 years' duration of ulcerative colitis treated by 5-aminosalicylic acid and intermittent topical steroids complained of acute epigastric pain. Esophagogastroduodenoscopy revealed diffuse mucosal edema with patchy redness, multiple erosions and nodularity of the stomach. Bioptic examination revealed marked eosinophilic infiltration, confirming the diagnosis of eosinophilic gastroenteritis. Systemic steroid therapy was initiated, whereas his ulcerative colitis and eosinophilia recurred when tapering the steroid. Addition of azathioprine was ineffective, and we subsequently started vedolizumab for eosinophilic gastroenteritis and ulcerative colitis. The medication effectively improved his abdominal symptoms and esophagogastroduodenoscopy and ileocolonoscopy 1 year later revealed endoscopic improvement of both diseases with histologically decreased level of eosinophilic infiltration. Considering that eosinophils also express α4ß7 integrins, vedolizumab can be a possible therapeutic candidate for eosinophilic gastroenteritis as well as ulcerative colitis.
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Neurofibromas, rare benign tumors of the peripheral nerve sheath, present diagnostic challenges, particularly in diabetic patients with toe ulcers. This case involves a 55-year-old female with type 2 diabetes mellitus who developed an enlarging ulcer on her right second toe. The initial evaluation suggested a diabetic ulcer; however, advanced imaging revealed a mass-like lesion. Partial excision and biopsy confirmed a neurofibroma with spindle cells within the myxoid stroma and S100 protein expression. One month later, total excision and Z-plasty reconstruction were performed under general anesthesia. The patient's postoperative recovery was uneventful, and the patient was discharged without complications. Follow-up revealed successful healing with no recurrence or functional issues. This case highlights the importance of considering neurofibromas in the differential diagnosis of diabetic toe ulcers to avoid misdiagnosis and ensure appropriate management.
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Diabetes Mellitus Tipo 2 , Pie Diabético , Errores Diagnósticos , Neurofibroma , Humanos , Femenino , Persona de Mediana Edad , Pie Diabético/diagnóstico , Pie Diabético/cirugía , Neurofibroma/diagnóstico , Neurofibroma/cirugía , Diabetes Mellitus Tipo 2/complicaciones , Dedos del Pie/cirugía , Diagnóstico DiferencialRESUMEN
BACKGROUND: Most of the safety data regarding eculizumab came from clinical trials, while its safety information in the real world is still limited. RESEARCH DESIGN AND METHODS: The data of eculizumab in the FDA Adverse Event Reporting System (FAERS) database (from the first quarter of 2007 to the first quarter of 2023) was collected and analyzed. The case reports of adverse drug reactions (ADRs) related to eculizumab in PubMed, Embase and Web of Science before May 2023 were systematically reviewed. RESULTS: A total of 464 ADRs of eculizumab were identified in the FAERS database. The top five ADRs with the highest proportional reporting ratio (PRR) are total complement activity decreased, extravascular hemolysis, hemoglobinuria, total complement activity increased and breakthrough hemolysis. Fifty-one cases of ADR related to eculizumab were identified from 44 publications. The number of reported cases of eculizumab associated Neisseria gonorrhoeae infection in case reports was observed to be comparable to the number of cases of Neisseria meningitidis infection. CONCLUSIONS: Clinicians must pay close attention to the risk of infections in patients receiving eculizumab, including severe N. meningitidis infection and other potentially fatal infections such as N. gonorrhoeae infection. In addition, The possible emergence of new ADRs should be vigilant during clinical medication.
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Rheumatoid arthritis (RA) is a common chronic autoimmune disease characterized by symmetrical polyarthritis, joint pain, and morning stiffness. It significantly impairs physical condition and increases the risk of functional disability. While conventional treatments include drug therapy, many patients continue to experience symptoms and seek alternative therapies to improve their condition. This article describes two clinical cases of RA patients treated with a comprehensive rehabilitation program, including moderate-intensity walking, yoga, and nutritional therapy. The study aimed to evaluate this approach's effectiveness in improving the patients' functional capacity and quality of life. The first patient (50 year-old female) noted a significant reduction in the number of painful joints (by 14) and swollen joints (by 12) after a three-month rehabilitation course. The visual analog scale (VAS) pain level decreased from 80 mm to 50 mm, and the duration of morning stiffness decreased from several hours to 80 min. The second patient (45 year-old female) also showed improvement: painful joints decreased from 13 to 2, and swollen joints from 7 to 1. VAS pain level decreased from 80 mm to 40 mm, and morning stiffness decreased by 50 min. Both patients reported an average reduction in excess weight by 1.65 kg/m², along with improvements in general well-being and mood. The results confirm that a comprehensive rehabilitation approach, including physical activity, yoga, and diet therapy, significantly improves the condition of RA patients. This approach helps reduce pain, decrease the number of inflamed joints, and improve overall functionality. Further studies with a larger sample are needed to determine the optimal rehabilitation strategies and the most impactful interventions.
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Artritis Reumatoide , Calidad de Vida , Yoga , Humanos , Artritis Reumatoide/rehabilitación , Artritis Reumatoide/fisiopatología , Femenino , Persona de Mediana Edad , Resultado del Tratamiento , Dimensión del Dolor , Terapia por Ejercicio/métodos , Caminata/fisiologíaRESUMEN
INTRODUCTION AND IMPORTANCE: Renal trauma is a common and associated complication of abdominal trauma. Although there is consensus that most high-grade injuries require surgical exploration, nonoperative management remains a viable approach. We aim to report case reports of four cases of nonoperative isolated high-grade blunt renal trauma in adults, followed by a literature review. CASE PRESENTATION: A 22-year-old female presented to the emergency room (ER) with intermittent fever and associated symptoms of renal trauma, including persistent left flank pain, nausea, and vomiting. Three weeks earlier was diagnosed with left renal trauma AAST Grade IV. She was advised to go to the hospital but was refused admission. Then she came with intermittent fever, and a second abdominal computed tomography (CT) scan showed urinoma. The patient was managed with a Double J (DJ) stent and percutaneous drainage. CLINICAL DISCUSSION: Conservative management is the standard of care for hemodynamically stable patients with AAST grade I to III renal injury, regardless of the mechanism of efficiency. If perinephric fluid collection persists despite interventions such as ureteral stenting or percutaneous nephrostomy drainage, percutaneous drainage may facilitate healing and prevent or treat abscesses. CONCLUSION: Minimal invasive management DJ stent insertion and percutaneous drainage can be used as a treatment for untreated high-grade renal trauma and urinoma as its complication.
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BACKGROUND: Dilated cardiomyopathy (DCM) is an etiologically heterogeneous group of diseases of the myocardium. With the rapid evolution in laboratory investigations, genetic background is increasingly determined including many genes with variable penetrance and expressivity. Biallelic NEXN variants are rare in humans and associated with poor prognosis: fetal and perinatal death or severe DCMs in infants. CASE PRESENTATION: We describe two male infants with prenatal diagnosis of dilated cardiomyopathy with impaired ventricular contractility. One of the patients showed hydrops and polyhydramnios. Postnatally, a DCM with severely reduced systolic function was confirmed and required medical treatment. In patient 1, Whole Exome Sequencing (WES) revealed a homozygous NEXN variant: c.1156dup (p.Met386fs) while in patient 2 a custom Next Generation Sequencing (NGS) panel revealed the homozygous NEXN variant c.1579_1584delp. (Glu527_Glu528del). These NEXN variants have not been previously described. Unlike the unfavorable prognosis described for biallelic NEXN variants, we observed in both our patients a favorable clinical course over time. CONCLUSION: This report might help to broaden the present knowledge regarding NEXN biallelic variants and their clinical expression. It might be worthy to consider the inclusion of the NEXN gene sequencing in the investigation of pediatric patients with DCM.
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Cardiomiopatía Dilatada , Humanos , Cardiomiopatía Dilatada/genética , Cardiomiopatía Dilatada/diagnóstico , Masculino , Recién Nacido , Femenino , Secuenciación del Exoma , EmbarazoRESUMEN
This case report investigates elevated serum concentrations of inhaled tobramycin in a patient with chronic kidney disease. The patient, a man in his early 80s with complex comorbidities, underwent tobramycin inhalation therapy for chronic respiratory infections caused by Pseudomonas aeruginosa Despite the strategic localised treatment approach, unexpectedly high plasma tobramycin concentrations were observed. After a dosage adjustment guided by a pharmacokinetic-pharmacodynamic model, a final inhalation dose of 300 mg of tobramycin was determined at a 24-hour interval. This case report underscores the need for rigorous monitoring of plasma tobramycin levels in patients with renal impairment undergoing inhaled tobramycin therapy, advocating for enhanced pharmacokinetic models to improve the safety and efficacy of the treatment.