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Abstract Diabetic retinopathy (DR), a leading cause of visual impairment, demands a profound comprehension of its cellular mechanisms to formulate effective therapeutic strategies. Our study presentes a comprehensive single-cell analysis elucidating the intricate landscape of Müller cells within DR, emphasizing their nuanced involvement. Utilizing scRNA-seq data from both Sprague–Dawley rat models and human patients, we delineated distinct Müller cell clusters and their corresponding gene expression profiles. These findings were further validated through differential gene expression analysis utilizing human transcriptomic data. Notably, certain Müller cell clusters displayed upregulation of the Rho gene, implying a phagocytic response to damaged photoreceptors within the DR microenvironment. This phenomenon was consistently observed across species. Additionally, the co-expression patterns of RHO and PDE6G within Müller cell clusters provided compelling evidence supporting their potential role in maintaining retinal integrity during DR. Our results offer novel insights into the cellular dynamics of DR and underscore Müller cells as promising therapeutic targets for preserving vision in retinal disorders induced by diabetes.

Abstract Background This paper reports a case of chronic dacryocystitis due to nasal stones. Case presentation An 84-year-old male patient was admitted to the hospital with chronic dacryocystitis of the right eye due to tearing and purulent discharge from the right eye for more than 1 month. Antibiotic treatments such as gatifloxacin eye drops were given at other hospitals but did not relieve the symptoms. A computed tomography(CT) scan of the lacrimal duct in our department showed a high-density shadow in the right lacrimal sac area, hypertrophy of the right inferior turbinate, and many nasal calculi in the nasal cavity. The patient was transferred to our otolaryngology department for further treatment, and nasal stones were removed under nasal endoscopy. Three days after surgery, the symptoms affecting the patient's right eye gradually resolved. One month after surgery, the patient underwent a follow-up examination in the ophthalmology clinic; there was no lacrimal purulent discharge from the right eye, and the lacrimal duct could be flushed smoothly. Conclusion Chronic dacryocystitis is often caused by primary nasolacrimal duct obstruction. Cases of chronic dacryocystitis caused by secondary nasolacrimal duct obstruction due to nasal stones are rare in the clinic. This case can serve as a reference for the clinical diagnosis and treatment of chronic dacryocystitis.

Objectives: Chinese patent medicines (CPMs) are commonly prescribed by clinicians in China as adjuvant therapy for diabetic retinopathy (DR). The study of network meta-analysis (NMA) aims to compare the effectiveness and safety of three CPMs plus calcium dobesilate (CD) for DR, and to explore optimal CPM for treatment of DR. Methods. Bayesian network meta-analyses were designed to evaluate the safety and effectiveness of different CPMs for the treatment of DR. Systematic Review Registration CRD42022323996. Results. A total of 23 eligible RCTs involving 1824 patients were enrolled. Compared with CD alone, Cmpound Danshen Dripping Pills (DS) + CD or Qiming Granule (QM) + CD considerably enhanced best corrected visual acuity (BCVA); DS + CD or Compound Xueshuantong Capsule (XST) + CD significantly reduced macular thickness; CPMs + CD significantly reduced the level of VEGF. In addition, DS + CD or XST + CD over QM + CD in reducing macular thickness. As for the adverse events, the differences across different CPMs were not statistically significant, and no statistically significant difference between the CPMs and CD. Conclusion. DS plus CD or QM plus CD may be better effective in improving BCVA; DS plus CD or XST plus CD may be better effective in reducing macular thickness; The combination therapy all may be better effective in reducing the level of VEGF. As for safety profile that CPMs plus CD did not increase the incidence of adverse events. The results of this study might support DS as a relatively prior adjuvant therapy option for patients with DR.

Abstract Purpose This study aims to investigate the potential bidirectional causal relationship between myopia and vitreous disorders from a genetic perspective, as vitreous disorders have been found to be closely associated with myopia development. Methods To achieve this, a two-sample Mendelian randomization (MR) design was employed. The study utilized pooled statistics from independent genome-wide association studies. Myopia was chosen as the exposure factor, while five different vitreous disorders were considered as outcomes. The primary analytical method was the inverse variance weighting (IVW) method, supplemented by sensitivity analysis. Results The study yielded significant findings indicating a positive association between myopia and vitreous disorders. The genetic prediction of myopia consistently demonstrated a positive correlation with vitreous disorders, as evidenced by IVW (odds ratio [OR] = 18.387; P

AIM: To investigate the effects of modified Zhujing Pill on the mitochondrion structure and dynamin-related protein of retinal pigment epithelial cells(RPEs)in mice with form deprivation myopia.METHODS: 3-week-old C57BL/6J mice were randomly divided into control group, model group and Chinese medicine group, with 10 mice in each group. Myopia model of the right eye of mice was established by means of form deprivation in model and Chinese medicine groups. After 4wk, the Chinese medicine group were given intragastric administration of modified Zhujing Pill suspension 0.546g/(kg·d)(0.2mL/d)for 4wk, and same amount of saline was given to mice in other groups at the same time of modeling. The axial length and diopter of the right eye of the mouse were measured before and after the experiment by A-ultrasound and a strip retinoscope respectively. At the end of the experiment, the mitochondrial ultrastructure of RPEs was observed by transmission electron microscope. Western blot, and real-time fluorescent quantitative PCR(q-PCR)were used to detect quantitative and gene expression of mitofusin 1(MFN1), optic atrophy 1(OPA1), and dynamin-related protein 1(DRP1)in retinal tissues respectively.RESULTS: At the beginning of the experiment, there was no statistically significant difference in axial length and diopter of the right eye of the mouse in control, model and Chinese medicine groups(P>0.05). At the end of the experiment, compared with the control group, the mice in the model group and the Chinese medicine group had lower diopter and continuously prolonged axial length(all P

Amid environmental pollution and resource depletion, developing and utilizing biomass resources as alternatives to petroleum is a prominent research focus. Driven by environmental protection and sustainable development, the shift from petroleum-based to bio-based polyurethane is a prevailing trend in polyurethane material development. Biomass sources such as vegetable oil, polysaccharides, and lignin offer extensive application prospects in bio-based polyurethane production. Functional modifications of these polyurethanes can further expand their application range. This article explores the preparation of various bio-based polyurethanes, their applications across different fields, and their anticipated future development and uses.

Diabetic retinopathy (DR) is a microvascular lesion that occurs as a complication of diabetes mellitus. Many studies reveal that retinal neurodegeneration occurs early in its pathogenesis, and abnormal retinal function can occur in patients without any signs of microvascular abnormalities. The gut microbiota is a large, diverse colony of microorganisms that colonize the human intestine. Studies indicated that the gut microbiota is involved in the pathophysiological processes of DR and plays an important role in its development. On the one hand, numerous studies demonstrated the involvement of gut microbiota in retinal neurodegeneration. On the other hand, alterations in gut bacteria in RD patients can cause or exacerbate DR. The present review aims to underline the critical relationship between gut microbiota and DR. After a brief overview of the composition, function, and essential role of the gut microbiota in ocular health, and the review explores the concept of the gut-retina axis and the conditions of the gut-retina axis crosstalk. Because gut dysbiosis has been associated with DR, the review intends to determine changes in the gut microbiome in DR, the hypothesized mechanisms linking to the gut-retina axis, and its predictive potential.

AIM: To investigate the effect of modified Zhujing pill on retinal autophagy in mice with form deprivation myopia.METHODS: Thirty C57BL/6 mice were randomly divided into a negative control group, a myopia model group and a traditional Chinese medicine intervention group, with 10 mice in each group. Except for the negative control group, all mice in the myopia model group and the traditional Chinese medicine intervention group used translucent EP tubes to cover their right eyes to make a form deprivation myopia(FDM)model; The traditional Chinese medicine intervention group gavage Zhujing pill modified suspension 0.546g/(kg·d)(0.15mL/d), the negative control group and the myopia model group were given an equal amount of normal saline(0.15mL/d)for 4wk. At the beginning and the end of the experiment respectively, the right eye diopter of the mouse was measured with a strip retinoscope, measurement of the axial length of the right eye of mouse by A-ultrasound. At the end of the experiment, the right eyes of all mice were taken for detection, and immunofluorescence method was used to locate and detect the activity and migration of the retinal microglia marker(Iba1); Transmission electron microscope observation of autophagosome formation in retinal pigment epithelial cells; Western Blot, real-time fluorescent quantitative PCR(q-PCR)to detect the autophagy marker LC3Ⅱ and p62 protein quantitative and gene expression in retinal tissues.RESULTS: At the end of the experiment, the refractive power of the right eyes of mice showed that the myopia model group and the traditional Chinese medicine intervention group formed relative myopia, the myopia model group and the traditional Chinese medicine intervention group were significantly lower than those of the negative control group(all P

AIM: To investigate the effect of modified Zhujing pill on retinal thickness and apoptosis in form deprivation myopia(FDM)mice.METHODS: Totally 72 C57BL/6J mice aged 3-week-old were randomly divided into control group 1, model group 1, intervention group 1, control group 2, model group 2 and intervention group 2, with 12 mice in each group. The first three groups were tested for 3wk and the last three groups were tested for 6wk, except for the groups of control 1 and control 2, all the mice used translucent goggles to cover their right eyes for form deprivation. The mice of intervention 1 and intervention 2 were respectively given intragastric administration modified Zhujing pill suspension 0.546g/(kg·d)(0.1mL/d)for 3wk at the beginning and after 3wk of the experiment. Same amount of saline was given to mice in other groups at the same time of modeling. The eye axis was measured before and after the experiment. At the end of the experiment, the eye of mice was taken for HE staining to observe the thickness changes of each layer of retina. Immunohistochemistry(IHC)and western blotting(WB)were used to detect Bcl-2 and Caspase3 expression of protein.RESULTS: At the end of the experiment, the axis of model group 1 was significantly higher than that of control group 1(P

Abstract Background This study aims to explore a case of exophytic nasal papilloma with acute dacryocystitis as the first symptom. Case presentation A 72-year-old male patient complaining of “a 10-year history of tearing and purulent discharge from the right eye, with subsequent redness and pain in the inner canthus for three days” was initially diagnosed with acute dacryocystitis of the right eye. The patient was treated with anti-inflammatory therapy. However, the redness and swelling of the inner canthus continued to increase. An endoscopic dacryocystorhinostomy of the right eye was performed under general anesthesia. A large amount of purulent secretion was drained during the operation. As a result, the swelling of the inner canthus was significantly reduced. A routine intra-operative biopsy of the wall of the lacrimal sac revealed an exophytic nasal papilloma. A second biopsy, 1 week after the surgery, revealed the same result. The patient was advised to undergo a dacryocystectomy once the swelling had subsided. However, the patient was reluctant to undergo this surgery and remains under clinical observation. Conclusion It is rare for an exophytic nasal papilloma, which is a benign tumor in the lacrimal sac, which has the potential for recurrence and malignant transformation, to manifest with acute dacryocystitis as the first symptom. Therefore, this case report could provide a reference for the future clinical diagnosis of this disease.

Glaucoma is a major cause of visual dysfunction worldwide. It is a group of diseases involving the optic nerve and related structures. It is characterized by visual field defects and optic disc depression, which ultimately lead to irreversible blindness. Many years of research have found that the pathogenesis of induced glaucoma is mainly mechanical compression theory and vascular theory(microcirculation). In view of the current clinical research and further development of diagnosis and treatment, the latter has become the focus and development direction of modern research. Patients with glaucoma will have a decrease in blood vessel density in the corresponding parts such as the optic papilla and optic disc. Examination techniques such as deep convolutional neural network and OCT-A can objectively explain the changes in the corresponding parameters of their microcirculation and can monitor the progress of glaucoma. Therefore, this article discusses from the aspects of glaucoma and microcirculation, aiming to expand the clinical understanding of glaucoma microcirculation, so as to further guide the clinical.

Nasolacrimal duct obstructive disease is a common ophthalmological disease with high clinical incidence. It is caused by inflammation or other reasons that nasolacrimal duct obstruction is partially or totally impassable. The main manifestation is epiphora. Secondary dacryocystitis can cause pyorrhea and secondary dacryocyst cyst can lead to enlargement of lacrimal sacand swelling of inner canthus. Opening obstructive nasolacrimal duct is the key to treat nasolacrimal duct obstructive disease. Tract-related anatomical parameters are very important in the diagnosis and treatment of nasolacrimal duct obstructive diseases. CT is one of the common methods of imaging examination of lacrimal duct, which is convenient for measuring the relevant anatomical parameters of nasolacrimal duct. This article reviews the research progress of CT measurement of nasolacrimal duct related anatomical parameters in nasolacrimal duct obstructive diseases in recent years, including the length and width, area, volume and angle of nasolacrimal duct and lacrimal sac, and summarizes the correlation between related anatomical parameters and nasolacrimal duct obstructive diseases in order to better guide clinical practice.

AIM: To analyze the difference of the angle between the long axis of lacrimal sac and bony nasolacrimal duct(BNLD)in patients with chronic dacryocystitis and normal eyes, and discuss the relationship between the angle and chronic dacryocystitis.METHODS:A total of 218 patients(248 diseased eyes)from Sichuan Province who visited the ophthalmology department of our hospital from January 2016 to March 2019 were collected retrospectively. All patients underwent computed tomography dacryocystography(CT-DCG)immediately after bilateral lacrimal duct irrigation, and three-dimensional reconstruction of the nasolacrimal duct structure was performed. The structures of the nasolacrimal duct, lacrimal sac and its surrounding tissues were observed in the coronal position, and the lacrimal sac-BNLD angles of the diseased eyes and the normal eyes were measured respectively.RESULTS:The lacrimal sac-BNLD angle of the diseased eyes [23.55°(17.30°, 29.90°)] was higher than that of the normal eyes [20.05°(15.40°, 28.35°)](P0.05). In addition, the angle of the diseased eyes in the age group of 41-60 a [25.20°(17.90°, 33.00°)] was significantly higher than that in normal eyes [21.60°(15.25°, 29.05°)](P

Hyaluronic acid(HA)is one of the main components of the extracellular matrix(ECM), and it is participated in many cells physiology and pathological processes, such as tissue reconstruction, expansion of cell gap, inflammation and tumorigenesis and so on. CD44 is a cell surface receptor for HA and widely distributed cell surface glycoprotein, which paticipate in specific adhesion of cell to cell and cell to matrix. CD44 is the most important hyaluronic acid receptor on the cell surface. Besides, CD44 is the main site of binding to HA. In this paper, we will elaborate from three aspects: the binding of HA and CD44 and its molecular basis, the expression and significance of HA/CD44 in glial cells(including Müller cells)and the expression and significance of HA/CD44 in the optic nerve, which makes readers have an understanding of the role of HA and CD44.

AIM: To measure the transverse diameter of nasolacrimal duct in patients with nasolacrimal duct obstruction, and to analyze the difference of the transverse diameter of the upper, middle and lower nasal nasolacrimal ducts between the diseased eyes and the normal eyes, between the male and the female eyes, and of different ages and sexes and then explore the correlation between the diameter of nasolacrimal duct and nasolacrimal duct obstruction based on computed tomography(CT)dacryocystography. METHODS: From April 2014 to January 2017 in Chengdu University of Traditional Chinese Medicine Affiliated Hospital of ophthalmology in tears or pus for complaints, diagnosis of nasolacrimal duct obstruction in 152 patients(179 sick eyes, 125 normal eyes). Among them 25 cases were male(sick eyes 28 eyes, normal eye 22 eyes), 127 cases were female(sick eyes 151 eyes, normal eyes 103 eyes), age from 4 to 87 years old, mean age 53.44±16.06 years old. All patients with perfusion of 30% iohexol injection in lacrimal passages, and immediately examined with CT scan, upload CT images on PACS workstation for 3D reconstruction of nasolacrimal duct, oblique coronal of nasolacrimal duct and its adjacent structure were observed. We measured and analyzed the transverse diameters of the upper, middle and lower nasal nasolacrimal ducts between men and women, diseased eyes and non diseased eyes, and between the diseased eyes of different age groups. RESULTS: The transverse diameter of the upper, middle and lower nasal nasolacrimal duct was no significant difference between the diseased eye and the normal eye, between the male and female diseased eyes, and between the diseased eyes of different age groups(P>0.05). The transverse diameters of the upper, middle and lower nasolacrimal ducts were significantly different between the diseased eyes and the normal eyes(PCONCLUSION: Transverse diameter of bony nasolacrimal duct is not a risk factor for nasolacrimal duct obstruction.

Objective: To explore whether the traditional Chinese medicine (TCM) Bu Jing Yi Shi Tablets alters the expression of scleral TGF-β1 and Smad3 in guinea pigs with form-deprivation myopia (FDM). Methods: Sixty-five guinea pigs were randomly divided into control, model, low-, medium-, and high-dose treatment groups. Except for the control group, FDM was induced by covering the right eye of each animal with opaque latex. The treatment groups were gavaged with different suspension concentrations of Bu Jing Yi Shi Tablets. Refraction and axial length were performed before and after myopia induction. At the end of the experiment, all right eyes were extracted, and scleral sections were prepared for staining and TGF-β1 and Smad3 immunohistochemistry. Scleral thickness and area, the scleral fibroblast quantity, and scleral TGF-β1 and Smad3 expressions were measured. Results: The 5 FDM groups had the same initial axial length and diopter, the final diopter and axial length of the model group were significantly increased compared with the control group and treatment groups (P

Introduction: Central nervous system (CNS) involvement is a poor prognostic factor of non-Hodgkin's lymphoma (NHL) in children. Therefore, early diagnosis and treatment of CNS disease is important to improve long-term disease-free survival rates in children. With the continuous progress of science and technology, the methods and technologies used for the diagnosis of CNS disease are constantly improving, from imaging and cerebrospinal fluid (CSF) morphology studies to cerebrospinal fluid CSF flow pattern and genetics studies, and so on. With the continuous progress of diagnosis technology, the clinical staging of patients, which has a vital role in follow-up treatments, has also become more accurate. Most patients with early CNS invasion have no obvious clinical manifestations. Therefore, to improve the diagnostic rate of CNS invasion, flow cytometry (FC) and conventional cytomorphology (CC) of CSF were performed in newly diagnosed NHL patients for the first time of intrathecal chemotherapy. We report the examination findings and flow cytometry (FC) and conventional cytomorphology (CC) of two patients diagnosed with a Burkitt lymphoma and treatment response. Case Report: : Case 1: Adolescent, male, 16 years old, with stage IV Burkitt lymphoma. In first evaluation cerebrospinal fluid, absence of atypical cells in cytological examination, immunophenotyping, presence of 38 cells/mL with immunophenotype: CD10+, CD19+, CD20+, CD38+, CD45+, Kappa+, CD34-, Lambda-. In the second CSF, absence of atypical cells and in the immunophenotyping, absence of monoclonal B lymphoid cells. Currently, the patient is 7 months out of treatment in remission. Case 2: Adolescent, male, 17 years old, with stage IV Burkitt lymphoma; in the first evaluation of the CSF with absence of atypical cells on cytology, on immunophenotyping, presence of 40% of anomalous B cells with immunophenotype: CD10+, CD19+, strong CD20, CD34 weak, CD38 strong. In a second CSF evaluation, the patient presented absence of atypical cells on cytological examination and absence of monoclonal B lymphoid cells. Currently, the patient is undergoing treatment with no evidence of CSF involvement. Conclusion: Central invasion is more common to be found in pediatric NHL patients with bulky disease and/or BM involvement and/or involvement of more than 4 organs. It was also common in the EBV with Burkitt Lymphoma. CSF detection by FC has important clinical significance in the diagnosis of CNS invasion in children with NHL, as it can significantly improve the detection rate of CNS involvement and evaluation during the treatment.

Introduction: Lymphomas are cancers that arise from the white blood cells and have been traditionally divided into two large subtypes: Hodgkin and non-Hodgkin lymphoma. B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma; almost 75% of patients with lymphoma have this variant. Lymphomas can potentially arise from any lymphoid tissue located in the body; however, secondary involvement in the adrenal, pancreas and thyroid is very uncommon. We report the history, examination findings, staging images results of a 17 -year-old adolescent man diagnosed with a Burkitt lymphoma. Case report: Adolescent, male, 17 years old, with the appearance of a subclavicular nodule on the right since November 2023, extending to the axillary region; without presenting fever, weight loss, night sweats, abdominal pain. Admitted to the service in June 2024 with a previous lymph node biopsy result with a reactional appearance. Evolving from April 2024 with a significant increase in the mass, associated with paresthesia of the hand and pain when moving the right upper limb. Chest tomography showed a solid mass in the right axillary region (16.4 × 12.7 × 15.5 cm); with involvement of the axillary and subclavian vessels on the right, maintaining contact with the right lateral and anterior chest wall up to the skin; nodular lesions in the bilateral thyroid parenchyma; lesions compatible with lymphoproliferative disease. Abdominal tomography showed a solid mass in the body of the pancreas (5.8 × 5.2 cm), a solid mass in the topography of the left adrenal gland (10.4 × 6.2 cm), solid nodular lesions in the cortex of the bilateral kidneys (up to 3.2cm on the left); all lesions compatible with metastases. Performed on the lymph node conglomerate that diagnosed Burkitt's lymphoma, the patient concluded the stage without bone marrow involvement but with involvement in the cerebrospinal fluid, defining it as stage IV. Chemotherapy treatment was started with good clinical response and images. Conclusion: Based on this case and a review of the literature, secondary involvement of the adrenal, pancreas and thyroid does not affect the patient's prognosis like involvement of the cerebrospinal fluid or bone marrow. However, this case characterizes an unusual presentation of Burkitt's lymphoma with involvement of three endocrinological organs simultaneously.

A Leucemia Linfoide Aguda (LLA) é a neoplasia mais frequente na faixa etária pediátrica. Fibrose medular é uma alteração estromal que pode ocorrer em medula óssea de forma primária, como na mielofibrose ou associada a outras neoplasias hematológicas. É uma alteração rara nos pacientes com LLA, sendo descrito em torno de 30% das leucemias. Objetivo: Descrever o caso de um paciente que se apresentou com fibrose medular severa ao diagnóstico de LLA, dificultando diagnóstico inicial. Metodologia: descrição de dados clínicos e laboratoriais baseada em revisão de prontuário. Resultados: Paciente masculino, 6 anos de idade, proveniente de Manaus - Amazonas, com antecedente de mal formação em polegares; negou história de neoplasias na família. Deu entrada neste serviço com relato de que há 8 meses da consulta inicial evoluiu com icterícia e palidez na origem, sendo internado para investigação e identificado bicitopenia em hemograma. Tentado mielograma, sem sucesso, e realizado biópsia de medula óssea (BMO) complementar que evidenciou neste momento medula óssea aplasica, com 20% de celularidade e população imatura, fibrose medular grau 3 com hipótese inicial de síndrome mielodisplásica/falência medular congênita; na ocasião recebeu transfusão de hemoderivados e realizado Deb teste, que foi negativo. No período paciente apresentou diversas internações por infecções graves. Devido manutenção dos achados realizada nova avaliação medular que mostrou 100% de celularidade com células de aspecto imaturo, imunohistoquimica compatível com infiltração medular por linfoma/leucemia linfoblástica B. Encaminhado para seguimento neste serviço. Ao exame físico: dismorfismos faciais, emagrecido, com hepatomegalia. Na admissão hemograma com Hb 4,9 g/dL/Ht 13,6%/ VCM 80fL / HCM 29pg / RDW 13,2%, Leucócitos 960/mm3 e Plaquetas 63k/mm3. Avaliação medular hipocelular por diluição com comprometimento de análise e cerca de 5% de blastos; BMO favoreceu diagnóstico de linfoma/leucemia linfoblástica de imunofenótipo B em meio a fibrose reticulínica grau 3. Complementação diagnóstica: cariótipo inconclusivo, painel de translocações negativo e exoma em andamento. Paciente classificado como LLA B, SNC 1, risco intermediário por uso prévio de corticoide, atualmente em quimioterapia na fase de consolidação, respondendo bem ao tratamento. Discussão: A medula óssea é composta por células hematopoiéticas dispostas entre uma matriz extracelular e células estromais, dentre elas os fibroblastos. A fibrose medular é caracterizada por uma desordem arquitetural da medula óssea, gerando prejuízo para a homeostase do ambiente medular. A fibrogênese se dá através da sinalização de fatores de crescimento e citocinas que excitam vias formadoras de fibrose das células tronco mesenquimais na própria medula, culminando com o acúmulo de reticulina, associado ou não ao colágeno. A fibrose medular secundária surge de uma alteração que pode ou não ser clonal. A LLA é uma importante causa de fibrose medular difusa e esta geralmente se resolve com o próprio tratamento da leucemia. Conclusão: A LLA pode se apresentar com fibrose medular e a dificuldade de obtenção de material adequado pode retardar o diagnóstico. É relatado, inclusive, o ressurgimento da fibrose previamente ao aparecimento de blastos na recaída, reforçando a necessidade de um acompanhamento mais minuncioso nestes pacientes.

O gene GATA2 está altamente expresso em células hematopoiéticas imaturas, permitindo proliferação e manutenção de células tronco-hematopoiéticas. A mutação do gene GATA2 (haploinsuficiência) está associada a fenótipos síndromicos variados, e envolve clínica de imunodeficiência e predisposição a neoplasias mieloides. Objetivo: Descrever o caso de um lactente com mutação de GATA2 que se apresentou com mieloproliferação. Metodologia: Descrição de dados clínicos e laboratoriais baseada em revisão de prontuário. Resultados: Paciente de 6 meses de idade, procedente de Palmas-TO, previamente hígido, desenvolvimento adequado. Na história familiar pai com quadro de leucopenia e plaquetopenia, sem investigação prévia. Sem histórico familiar de neoplasia. Há 1 mês da admissão apresentou celulite em pé direito secundária à estrófulo, com necessidade de drenagem de abscesso e antibiótico endovenoso; em exames de controle foi evidenciado anemia (9,5g/dL), leucocitose (95k/mm3) e plaquetose (1.5k/mm3), sustentadas após melhora do quadro infeccioso. Devido alteração laboratorial optado por avaliação medular que evidenciou medula normocelular, com discreta disgranulopoiese, aumento de blastos; imunofenotipagem com presença de 6,5% de celulas imaturas mieloides. Sugerido diagnóstico de leucemia mielomonocítica juvenil (LMMJ), sendo então encaminhado ao Hospital de Câncer Infantojuvenil de Barretos para seguimento. No hemograma inicial: Hb 9,3g/dL / Ht 27,4% / VCM 81fL / HCM 27,4pg / RDW 15,7%, Leucócitos 74.460/mm3 (N 48.399 / E 1489 / B 745 / L 18.615 / M 5.212) Plaquetas 1.435k/mm3. Exame físico sem alterações; ausência de visceromegalias. Ampliado pesquisa: Cariótipo 46, XY, PCR para pesquisa de mutações associadas à LMMJ negativo e em NGS detectado mutação em GATA2 exon 5 VAF 49,5%. À princípio tentado citoredução com hidroxiureia. Discutido caso com equipe do Hospital St. Jude e devido poucos relatos de proliferação celular associado ao gene GATA2 orientado seguir observação, suspensão da hidroxiuréia, visto mieloproliferação provavelmente transitória. Realizada pesquisa de mutação de GATA2 no pai, positivo. Paciente segue assintomático, em acompanhamento ambulatorial, com reavaliação medular sem evidência de SMD, com plaquetometria e leucometria oscilantes. Discussão: Cerca de 80% dos pacientes com haploinsuficiência de GATA2 irão desenvolver neoplasias mieloides; no contexto da SMD pediátrica é o gene mais prevalente e os pacientes se manifestam com citopenia e infecções de repetição. O tratamento na fase de SMD instalada é o transplante de células tronco-hematopoiéticas (TCTH); pacientes assintomáticos podem ser seguidos com reavaliações medulares e de imunidade e neste contexto TCTH preemptivo controverso. A mieloproliferação descrita em raros pacientes com esta mutação é atribuída a uma resposta medular reativa, com relatos de resolução espontânea. O paciente relatado não apresentava, além da monocitose, outros critérios diagnósticos de LMMJ e foi exluída essa hipótese diagnóstica. Conclusão: O reconhecimento neste paciente de histórico de infecções e alteração hematológica associado à história familiar de citopenia foram importantes fatores considerados para investigação de mutações de predisposição germinativa a neoplasias mieloides.

Introduction: Hodgkin lymphoma (HL), unlike non-Hodgkin lymphoma, rarely involves the central nervous system (CNS). The incidence has been reported as 0.2% to 0.5% of all HL cases, but a recent review of 14 868 patients identified only 2 cases of HL involving the CNS. Consequently, there is no consensus to guide therapeutic decision-making. Involvement of the brain or spinal cord by HL can be primary or, more frequently, secondary to the compromise of adjacent lymph nodes. Lesions are more frequently intraspinal than intracranial. We describe a patient with systemic HL who presented with involvement of the CNS at diagnosis. Case Report: A six year -old female with a history of progressive cervical lymphadenopathy, presented in October 2023 with isolated cervical lymphadenopathy on the right, in addition to fever, pruritus in the upper limbs and night sweats. Initial pediatric evaluation did not conclude that the cause was infectious. In December 2023 cervical lymphadenomeglia increased in size (2x2cm) but in January 2024 with a progressive increase of 3x2 cm in addition to fever, night sweats and worsening itching, a biopsy was performed which defined as Hodgkin's Lymphoma subtype nodular sclerosis. Admitted to our service in March 2024, in addition to enlarged lymph nodes, fever, night sweats and pain in the lower limbs. After 48 hours of admission to this hospital to start the staging, she developed loss of strength in the left lower limbs. She mainly started Dexamethasone 10mg/m2/day and underwent an MRI. Magnetic core scan of the total spine and brain that showed: Solid neoplastic lesion inside the vertebral and sacral canal, from L4 to S3, involving the roots of the cauda equina, infiltrating the neuroforamens L5-S1, S1-S2 and S2-S3 on the left and compressing the corresponding roots. Solid paravertebral neoplastic lesion on the left, infiltrating the spinal canal at the level of T1-T2 and T6-T7 on the left. Diffuse heterogeneous change in the bone marrow signal of the vertebral bodies, which may represent neoplastic involvement. Solid neoplastic lesions with a dural base, one in the left temporal lobe, measuring 4.3 x 3.8 x 1.7 cm and another in the right frontal lobe, measuring 3.9 x 2.3 x 1.7 cm (CC x TT x AP), showing intense homogeneous post-contrast enhancement and diffusion restriction, the latter associated with vasogenic edema in the frontal white matter on the right. These findings may be related to the spread of the underlying neoplastic lesion. PET-CT with 18F-FDG showed - Metabolism in supra and infradiaphragmatic lymphadenopathy, spleen and bones compatible with active lymphoproliferative disease. Twenty-four hours after starting Dexamethasone, the patient experienced improvement in neurological symptoms, then underwent the 1st cycle of chemotherapy with improvement in neurological and systemic symptoms. She showed an excellent response after two cycles and is currently undergoing chemotherapy with no evidence of disease progression. Conclusion: Finally, unusual and aggressive extranodal presentations of HL should alert to the possibility of HIV infection. Whole brain irradiation and systemic chemotherapy remain the treatment of choice for CNS involvement in patients with HL.

A Leucemia Mieloide Aguda (LMA) corresponde a até 50% das mortes relacionadas à leucemia. Embora nas últimas décadas tenha sido observada significativa melhora no prognóstico com avanços no diagnóstico e terapias propostas, em países de renda média a baixa como Brasil a sobrevida de pacientes pediátricos com LMA ainda é de 30-40%. Objetivos: Descrever a sobrevida global e livre de eventos dos pacientes pediátricos diagnosticados com LMA no Hospital Infantojuvenil de Barretos, no período de janeiro de 2002 a junho de 2022. Materiais e métodos: Foi realizado um estudo de coorte retrospectivo. A análise de sobrevida foi estratificada em dois períodos distintos: Entre janeiro/2002 a maio/2013 (tratamento realizado na unidade de adultos do Hospital de Câncer de Barretos); e junho/2013 a junho/2022 (tratamento e suporte realizados na unidade infantil do Hospital). As sobrevidas global (SG) e livre de eventos (SLE) foram avaliadas considerando todos os pacientes LMA, LMA exceto leucemia promielocítica aguda (LPA) e, também, considerando apenas as LPA. Resultados: Foram incluídos 83 pacientes, sendo 25 no primeiro período e 58 no segundo período. Analisando o período de 20 anos, incluindo todos os pacientes pediátricos com LMA, encontrou-se SG de 37,7% e SLE de 35,8%. Excluindo LPA, a SG foi de 31,9% e a SLE foi de 31,2%. Já dentre os pacientes com LPA, a SG foi 64,3%. Ao avaliar a sobrevida nos dois períodos separadamente, a sobrevida global foi de 28% no primeiro período e 41,4% no segundo período. O óbito durante fase de indução chegou a 52,6% no primeiro período, e quase 50% dos pacientes tinham hiperleucocitose; a maioria dos pacientes desse período analisado foram tratados segundo protocolo BFM; 26,5% dos pacientes tiveram recaída de doença. O protocolo brasileiro GELMAI foi implantado recentemente e dos 10 pacientes incluídos não houve nenhum óbito na fase de indução. Quando a sobrevida foi estratificada segundo grupo de risco genético, pacientes de baixo risco tiveram uma sobrevida global de 50%, superior quando comparado aos risco intermediário e alto, com 30 e 28,6% de sobrevida, respectivamente. Discussão: Em nosso serviço, foram observadas taxas elevadas de óbito indutório nos pacientes com LMA. O diagnóstico tardio de muitos pacientes devido a dificuldade em serem referenciados a um centro oncológico, assim como quimioterapia intensiva indutória de protocolos internacionais e cuidado suportivo deficiente podem ser considerados para esse achado. Certamente, o cuidado às crianças realizado por pediatras – oncologistas, intensivistas, equipe multidisciplinar – em hospital pediátrico influenciou na melhora sobrevida global e redução de óbito indutório no serviço a partir de 2013. Conclusão: Pode-se inferir, com os dados obtidos, a importância de um serviço de tratamento especializado em conduzir crianças graves, com suporte necessário e de fácil acesso à disposição, além de profissionais treinados ao atendimento à população pediátrica. A morbimortalidade relacionada ao tratamento, entretanto, permanece um desafio nos países em desenvolvimento, inclusive neste Hospital, com a proposição de tratamentos de intensidade reduzida na indução se monstrando uma realidade fáctivel em países de baixa e média renda como o Brasil.