Anterior lamellar corneoscleral keratoplasty for the management of corneal thinning following treatment with mitomycin-C and interferon to treat highly suspected ocular surface squamous neoplasia: a case report

ABSTRACT A patient presented with corneoscleral thinning five months after the treatment of suspected ocular squamous surface neoplasia with mitomycin-C and interferon. For tectonic and aesthetic purposes, we decided to perform lamellar corneoscleral transplantation. The approach used established new tectonic support and corneal homeostasis. This technique might be an option in similar cases.

Unilateral acute cataract after facial aesthetic procedure: a case report

ABSTRACT Aging and face sagging have many causes, and various techniques are used for treatment, including noninvasive procedures, such as focused ultrasound, which uses the principle of collagen regeneration by coagulative necrosis of the dermis layers using radiofrequency, but this procedure has complications. We reported a case of a 54-year-old female patient who complained of poor visual acuity in her right eye three days after a focused ultrasound facial aesthetic procedure, with the best visual acuity of 20/60. Biomicroscopy of the right eye revealed an acute cataract with three points of fibrosis extending from the posterior to the anterior capsule. The patient underwent phacoemulsification surgery with visual rehabilitation and improved vision of 20/20. We hypothesized that the occurrence of acute cataract was related to the inappropriate use of focused ultrasound.

Guardians of the ocular surface: lessons learned from a challenging case of Langerhans cell histiocytosis with eyelid involvement

ABSTRACT Langerhans cell histiocytosis comprises a heterogeneous range of clinical manifestations secondary to clonal proliferation of histiocytes, characterized by the accumulation of these cells in various organs and tissues. The ophthalmological component commonly involved is the orbit. Herein, we report a rare case of Langerhans cell histiocytosis with eyelid involvement, which resulted in severe ocular surface complications, which subsequently significantly impacted the patient's quality of life. This case report highlights the fact that despite being rare, Langerhans cell histiocytosis should be included in the differential diagnosis of eyelid lesions. Furthermore, a multidisciplinary approach with a systemic overview is crucial for managing the ocular complications.

Relato de caso de lombalgia inflamatória com extenso comprometimento anatômico-funcional: a importância de uma adequada abordagem da dor lombar na Atenção Primária à Saúde / Case report of inflammatory low back pain with extensive anatomical-functional impairment: The importance of an adequate approach to low back pain in Primary Care / Presentación de un caso de lumbalgia inflamatoria con afectación anatómico-funcional extensa: La importancia de un abordaje adecuado de la lumbalgia en Atención Primaria de Salud

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.

Acidente crotálico seguido por primeiro episódio psicótico: um folclore clínico / Rattlesnake bite accident followed by first psychotic episode: a clinical folklore / Accidente crotálico seguido de primer episodio psicótico: un folclore clínico

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.

Rotura do peitoral maior: relato de caso de uma rotura incomum / Pectoralis major rupture: case report of an unusual rupture / Rotura del pectoral mayor: informe de un caso de rotura inusual

Apesar de não muito frequente, nos últimos 20 anos, houve um aumento significativo dos relatos sobre rotura do peitoral maior, normalmente associadas à prática de atividade física em que ocorre contração intensa e/ou uso de cargas pesadas exercendo resistência sobre o músculo. Neste relato de caso temos um paciente de 51 anos referindo dor no tórax à direita e no braço direito há 3 dias após tentar consertar o guidão da moto. Apresentava assimetria dos peitorais, perda de força do membro superior direito, dificuldade de movimentação e hematoma. A ressonância magnética demonstrou rotura completa da junção miotendínea do peitoral maior, com tendinopatia com fissuras insercionais e intrasubstanciais infraespinhal e tendinopatia com rotura parcial do tendão subescapular. Foi indicado por médico ortopedista o acompanhamento com o uso de medicação analgésica.

Although not very common, in the last 20 years, there has been a significant increase in reports of rupture of the pectoralis major, normally associated with the practice of physical activity in which intense contraction occurs and/or the use of heavy loads exerting resistance on the muscle. In this case report we have a 51-year-old patient reporting pain in his right chest and right arm for 3 days after trying to fix his motorcycle's handlebars. He had asymmetry of the pectorals, loss of strength in the right upper limb, difficulty moving and hematoma. Magnetic resonance imaging demonstrated complete rupture of the myotendinous junction of the pectoralis major, with tendinopathy with insertional and intrasubstantial infraspinatus fissures and tendinopathy with partial rupture of the subscapularis tendon. An orthopedic doctor recommended follow-up with the use of analgesic medication.

Aunque no es muy común, en los últimos 20 años se ha observado un aumento significativo en los reportes de rotura del pectoral mayor, normalmente asociado a la práctica de actividad física en la que se produce una contracción intensa y/o al uso de cargas pesadas ejerciendo resistencia sobre el mismo. el músculo. En este caso clínico tenemos un paciente de 51 años que refiere dolor en el pecho derecho y en el brazo derecho durante 3 días después de intentar arreglar el manillar de su motocicleta. Presentó asimetría de pectorales, pérdida de fuerza en miembro superior derecho, dificultad de movimiento y hematoma. La resonancia magnética demostró rotura completa de la unión miotendinosa del pectoral mayor, con tendinopatía con fisuras de inserción e intrasustancial del infraespinoso y tendinopatía con rotura parcial del tendón subescapular. Un médico ortopédico recomendó seguimiento con el uso de medicación analgésica.

Is there a Possible Association between Multiple Myeloma Relapse and Coronavirus Disease 2019 Vaccination? A Case Report.

Due to the high morbidity and mortality of the coronavirus disease 2019 (COVID-19) in patients with malignancy, the necessity of vaccination in this group of patients became particularly important. Although a large number of studies have reported the safety of COVID-19 vaccination in multiple myeloma (MM) patients, the effect of the COVID-19 vaccine on MM relapse has not yet been reported. Here, we report a case of a possible association between relapse of MM and COVID-19 vaccination with Sinopharm®, an inactivated virus vaccine, in a patient with MM who has remained in complete remission for about 4 years. The MM relapse in the patient was diagnosed by both clinical findings and laboratory workup including serum protein electrophoresis, bone marrow aspiration, and biopsy. Despite this possible association between COVID-19 vaccination and MM relapse in the patient, given its importance in reducing mortality and having an acceptable safety profile, the COVID-19 vaccine should be administered to all cancer patients. However, careful monitoring and follow-up are recommended in patients with MM after COVID-19 vaccination.

A Case of Desmoplastic Small Round Cell Tumor: Highlighting Diagnostic Challenges and Underscoring the Need for Standardized Treatment Protocols.

Desmoplastic small round cell tumor is a rare and aggressive neoplasm, primarily affecting serosal surfaces within the abdomen and pelvic peritoneum in young males. Because of a low reported incidence, underdiagnosis and lack of current treatment guidelines pose a unique challenge for physicians and patients dealing with this disease. Therefore, it is imperative to present new information regarding this disease so that better detection and treatment guidelines can be created. This case report presents a 30-year-old male presenting with vague abdominal symptoms, ultimately diagnosed with desmoplastic small round cell tumor after image-guided biopsy. The ambiguity of initial symptoms highlights the diagnostic challenges associated with desmoplastic small round cell tumor, further complicated by the absence of standardized treatment guidelines. This report aims to raise awareness of this exceptionally rare cancer, contribute to the existing knowledge base, and emphasize the critical need for collaborative efforts to develop standardized treatment regimens.

Concordance between humans and GPT-4 in appraising the methodological quality of case reports and case series using the Murad tool.

BACKGROUND: Assessing the methodological quality of case reports and case series is challenging due to human judgment variability and time constraints. We evaluated the agreement in judgments between human reviewers and GPT-4 when applying a standard methodological quality assessment tool designed for case reports and series. METHODS: We searched Scopus for systematic reviews published in 2023-2024 that cited the appraisal tool by Murad et al. A GPT-4 based agent was developed to assess the methodological quality using the 8 signaling questions of the tool. Observed agreement and agreement coefficient were estimated comparing published judgments of human reviewers to GPT-4 assessment. RESULTS: We included 797 case reports and series. The observed agreement ranged between 41.91% and 80.93% across the eight questions (agreement coefficient ranged from 25.39 to 79.72%). The lowest agreement was noted in the first signaling question about selection of cases. The agreement was similar in articles published in journals with impact factor < 5 vs. ≥ 5, and when excluding systematic reviews that did not use 3 causality questions. Repeating the analysis using the same prompts demonstrated high agreement between the two GPT-4 attempts except for the first question about selection of cases. CONCLUSIONS: The study demonstrates a moderate agreement between GPT-4 and human reviewers in assessing the methodological quality of case series and reports using the Murad tool. The current performance of GPT-4 seems promising but unlikely to be sufficient for the rigor of a systematic review and pairing the model with a human reviewer is required.

Atypical presentation of systemic lupus erythematosus in a 16-year-old boy: Case report.

INTRODUCTION: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease, characterized by a clear female predominance and a major clinical polymorphism. Some initial presentations, particularly in children and adolescents are exceptional. Our objective was to report an unusual initial presentation of SLE in a male adolescent. OBSERVATION: We reported the case of a 16-year- old tunisian boy who was referred to the hematology emergency department because of a hemorrhagic syndrome. The evolution was marked by pancytopenia, prolonged fever and an anasarca with recurrent cardiac tamponade. Explorations concluded to SLE. The patient was started on pulse therapy of dexamethasone followed by immunoglobulin. He was also provided with pericardiocentesis with a favorable outcome. CONCLUSION: SLE is characterized by clinical polymorphism, that's why diagnosis and management of complications could be difficult. SLE should be considered in differential diagnosis of many disorders, such as pancytopenia and cardiac tamponade.

A starry night: a case report of severe liver injury due to a close-range shotgun blast in Argentina.

This report presents the case of a 20-year-old man who sustained a severe liver injury from a closerange shotgun blast. A prompt medical intervention, including damage control exploratory laparotomy and surgical debridement, was undertaken due to the extent of liver damage. Despite challenges such as a nondirected biliary fistula and extensive liver parenchymal injury, comprehensive surgical management led to successful treatment. Postoperative complications, including biloma and fungal infection, were managed appropriately, highlighting the importance of vigilant follow-up care. The case underscores the complexity of managing severe liver trauma and emphasizes the evolving role of trauma damage control strategies and minimally invasive procedures in achieving favorable outcomes.

Acute irreducible anterior shoulder dislocation due to interposition of the subscapularis muscle and the lesser tuberosity: a case report.

Efforts to reduce an anterior shoulder dislocation can fail due to numerous mechanical obstructions caused by soft tissue interposition (long head of the biceps, rotator cuff muscles, labrum, musculocutaneous nerve) and/or bony elements (displaced fragment of a greater tuberosity or glenoid fracture, bone impaction such as a Hill-Sachs lesion fixed on the glenoid rim, a bony Bankart lesion). Herein, we report the case of a 35-year-old man who sustained an anterior shoulder fracture-dislocation of his left shoulder after a fall. Despite a postreduction radiological examination that appeared misleadingly reassuring, subtle signs of persistent subluxation raised concerns. A computed tomography (CT) scan revealed subscapularis muscle entrapment along with avulsion of its bony insertion from the lesser tuberosity of the humerus, and a comminuted avulsion fracture of the greater tuberosity of the humerus. The patient underwent surgery using a deltopectoral approach. This involved releasing the entrapped subscapularis muscle and fixing the two fractured fragments. The lesser tuberosity was reduced and secured with two cannulated screws, and the comminuted fragment of the greater tuberosity was reattached using transosseous sutures. At 12-month follow-up, the patient achieved a Constant-Murley score of 85 of 100, with limitation in internal rotation at L3 but no signs of instability or new dislocation episode. This case underscores the importance of confirming shoulder reduction on at least two orthogonal views and paying close attention to the patient's feedback about sensation in their shoulder. Additionally, it highlights the utility of CT or magnetic resonance imaging scans if doubt exists about the integrity of the reduction.

Purtscher retinopathy following isolated chest compression: a case report.

This case report describes the case of a 56-year-old man who developed Purtscher retinopathy following compressive chest trauma. During the tertiary survey, the patient was found to have a unilateral partial vision decline despite sustaining only mild rib fractures. The patient was diagnosed with a rare complication of Purtscher retinopathy. At a 2-week follow-up outpatient examination, improved visual acuity was observed. This case highlights the importance of conducting a tertiary survey not only on the directly impacted site, but also comprehensively across all sites, while attentively listening to and addressing the patient's complaints.

Human parvovirus B19 vertical infection and hydrops fetalis. A case report. / Infección vertical por parvovirus humano B19. A propósito de un caso de hidropesía fetal.

Non-immune hydrops fetalis represents a diagnostic challenge in high-risk pregnant women. Vertical infection with human parvovirus B19 (B19V) is a possible cause. National guidelines propose maternal serologic screening (IgG/IgM), which may be insufficient in some situations. We report a case of vertical B19V infection with difficulties in prenatal diagnosis. Preterm newborn, normal weight (2950 g), born to a 30-year-old mother with anemia and hydrops fetalis (week 17). Cardiac, chromosomal, isoimmunization-Rh, and usual infectious causes (TORCH) were ruled out. Maternal serology for B19V showed IgG+ and IgM-, and the diagnosis was dismissed. The newborn presented abdominal distension (ascites), anemia, and jaundice. Postnatal results confirmed the diagnosis with DNA+ for B19V. Discharge at 17 days with good evolution. The protocol for B19V screening in vertical infection needs to be revised by incorporating early molecular studies (PCR) from the early stages of gestation to optimize the diagnosis and treatment of patients with this congenital infection.

La hidropesía fetal no inmune representa un desafío diagnóstico en embarazadas de alto riesgo. La infección vertical por parvovirus humano B19 (B19V) es una causa posible. Las guías nacionales proponen pesquisas serológicas maternas (IgG/IgM) que pueden ser insuficientes en algunas situaciones. Se reporta un caso de infección vertical por B19V con dificultades en el diagnóstico prenatal. Recién nacido prematuro, peso adecuado (2950 g). Hijo de madre de 30 años, con anemia e hidropesía fetal (semana 17). Se descartaron causas cardíacas, cromosómicas, isoinmunización-Rh e infecciosas habituales (TORCH). Serología materna para B19V mostró IgG+ e IgM- desestimando el diagnóstico. El neonato presentó distensión abdominal (ascitis), anemia e ictericia. Resultados posnatales confirmaron diagnóstico con ADN+ para B19V. Alta a los 17 días con buena evolución. El protocolo de pesquisa de B19V en infección vertical requiere ser revisado incorporando precozmente estudios moleculares (PCR) desde etapas tempranas de la gestación, y así optimizar el diagnóstico y tratamiento de los pacientes con esta infección congénita.

A rare case of a large solid pseudopapillary neoplasm with extensive liver metastasis.

Solid pseudopapillary neoplasms (SPNs) are uncommon pancreatic tumors that primarily affect young females. We report a case of a 24-year-old female diagnosed with SPN and liver metastasis during a routine examination. Imaging revealed an 8-cm pancreatic mass with multiple liver metastases. Histopathology confirmed SPN. Subsequent next-generation sequencing revealed a CTNNB1 mutation. The patient underwent a total pancreatectomy with splenectomy, right hemihepatectomy, and intraoperative radiofrequency ablation. Two years after the surgery, she remained complication-free. She is under regular surveillance. This case underscores the importance of early detection and comprehensive management of SPN.

Neutropenia possibly caused by cefoperazone/sulbactam.

Neutropenia is a rare complication of drug therapy and is usually underdiagnosed. Cefoperazone/sulbactam is a combination of broad-spectrum antibacterial agents. Data on cefoperazone/sulbactam-induced neutropenia are limited. Herein, we report the case of a 35 year-old female patient who was admitted to the hospital due to an appendiceal abscess. After anti-infective treatment with cefoperazone/sulbactam, the patient developed neutropenia on day 4. After discontinuing treatment with cefoperazone/sulbactam, the patient's white blood cells and neutrophils gradually returned to normal. Hence, clinicians should monitor changes in neutrophil count during cefoperazone/sulbactam therapy and provide timely treatment.

Endoscopic transorbital approach for the removal of a frontal lobe foreign body: a case report.

Low-velocity orbital penetrating injuries may result in an intracranial retained foreign body that requires surgical removal. We describe the endoscopic transorbital removal of a retained umbrella tip in the frontal lobe, which was secondary to trauma to the orbital roof. This technique facilitated the complete removal of the foreign body without causing additional damage to the surrounding tissue. The patient had a successful postoperative recovery. We also discuss the utility of the transorbital neuroendoscopic procedure in managing these traumatic injuries.

Post-streptococcal myositis - ultrasound features of an under-recognised disorder: a case report.

BACKGROUND: Post-streptococcal myalgia and myositis are very rare complications of streptococcal infections with group A ß-haemolytic streptococci. Data on this condition are scarce and even less is known about findings in clinical imaging. Until today, there are no descriptions of ultrasonographic changes in this condition. CASE PRESENTATION: We present a case of a 31-year-old female patient with immobilizing myalgia of the left outer thigh following a streptococcal upper respiratory tract infection, accompanied with erythemata nodosa on both shins. Laboratory results indicated post-streptococcal myositis since Creatine kinase, Lactate dehydrogenase and Antistreptolysin antibodies were significantly elevated. An ultrasound of the affected vastus medialis of the left quadriceps femoris muscle was performed, which showed a focal increase in muscle echogenicity with loss of architecture and hypervascularisation in Power Doppler Mode. The diagnosis of focal myositis was confirmed with magnetic resonance imaging. The patient's symptoms as well as the ultrasonographic changes fully resolved under therapy with Ibuprofen and intravenous Ampicillin/Sulbactam. CONCLUSIONS: This is the first description of ultrasound findings in this rare condition. We conclude that muscular ultrasound is helpful to identify myositis in post-streptococcal myalgia and myositis.

[Combined epilepsy with generalized and focal seizures]. / Kombinált epilepszia generalizált és fokális rohamokkal.

Background and purpose:

Combined epilepsy (with generalized and focal seizures) is a recently accepted and yet underreported epilepsy type. We intended to review the literature of combined epilepsy and to report the individual findings of the 31 combined epilepsy patients in our database. Thereafter, we investigated the characteristics of the patients at the group level.

The individual findings of the 31 patients were tabulated. We characterized the group with special reference to epide­miology, timing and the sequence of gene­ralized and focal seizures, family history of seizures and severity of the electro-clinical phenotype. The variables were compared to those of the generalized epilepsy and the focal epilepsy groups of our database. We carried out statistical analyses by the two-sided Fishers’s exact test and the Kruskal-Wallis and post-hoc Dunn tests.

The prevalence of combined epilepsy was 1.56% within the total sample of the classifiable epilepsy patients. Females were affected more often than males (67.7% and 32.3%, respectively). Statistically significant associations emerged firstly between the “short interval” subgroup (where the generalized and focal seizures occurred with short time difference) and the lack of other cerebral abnormality, and secondly between the “long interval” subgroup (where 4 to 37 years elapsed between the occurrence of the two seizure types) and the presence of other brain abnormality (p = 0.02). The proportion of patients with positive family history of seizures was greater in the combined epilepsy- than in the generalized epilepsy group (p = 0.03) and the focal epilepsy group (p < 0.0001) of the database. The electro-clinical phenotype of the absence seizures showed more atypical findings (indicating poor prognosis) in combined epilepsy than in the generalized absence epilepsy patients of the database (p < 0,0001). Despite dissimilar patient selection and study design, our main findings were in accord with those of prior studies. The dissection of the combined epilepsy group into the “long interval” and “short interval” subgroups was a novel approach that highlighted the dissimilar pathogenetic and clinical correlates of each.

The case reports might facilitate the spread of information about combined epilepsy in the medical community. Analyses of the patients at the group level resulted in clinically useful pieces of evidence.

Indolent systemic mastocytosis (ISM) without skin lesions as a recurrent anaphylaxis: a case report study.

Introduction and importance: Mastocytosis encompasses a diverse range of disorders characterized by the clonal accumulation of mast cells in various tissues, including the skin, bone marrow, and gastrointestinal tract. Case presentation: This case report describes a 32-year-old male patient who presented with a history of recurrent anaphylactic attacks and elevated serum tryptase levels without apparent skin involvement. The diagnostic process and clinical implications of non-cutaneous mastocytosis are discussed in the context of existing WHO criteria. Clinical discussion: Mastocytosis, although a rare disease, carries the potential for severe complications and can present with atypical symptoms, thereby complicating its diagnosis and management. Consequently, the development of a reliable diagnostic and therapeutic strategy is of paramount importance. Conclusion: There is a pressing need to delve deeper into the investigation of the potential impacts and manifestations of mastocytosis to further our understanding and enhance patient care.