Abstract in English:

ABSTRACT Schizophrenia diagnostics have evolved to adapt to clinical needs and scientific advances, and the current denominations emerged at the beginning of the twentieth century. Most problems arise while integrating clinical experiences, based on historical psychopathological descriptions, with emerging translational neuroscience research. This study aimed to evaluate the state-of-the-art critics of the current schizophrenia concept and their recommendations for new concepts. We performed a narrative review of the literature and searched for studies published in English in PubMed in the last 2 years which discussed the diagnosis of schizophrenia. Two authors independently selected the studies after analyzing the abstracts. Subsequently, studies were selected for this review by consensus. Twenty-six studies were selected, and all authors, except two, had restrictions on the current categorical model for the diagnosis of schizophrenia owing to the heterogeneity of symptomatology and high frequency of comorbidity. Eight studies proposed changes to the concept of schizophrenia. The central proposition was to adopt psychotic syndrome as a core feature instead of the current concept of schizophrenia. We synthesize these proposals using psychosis as a spectrum that includes schizophrenia as a more severe case at the end of the spectrum.

Abstract in English:

ABSTRACT Introduction Traumatic brain injury is a leading cause of death and disability. Tranexamic acid, an antifibrinolytic agent, holds the potential for managing intracranial hemorrhages secondary to traumatic brain injury. However, its efficacy and safety remain subjects of ongoing debate. Objective To better clarify the efficacy and safety of tranexamic acid in that context and to evaluate the need for further studies. Methods We conducted a comprehensive search of seven electronic databases, eight study repositories, and tertiary sources between January 2021 and 2022 for randomized controlled trials involving victims of traumatic brain injury aged 15 or older who received tranexamic acid versus placebo or standard care. The primary outcomes were all-cause mortality and hemorrhagic complications during treatment. This review incorporated elements of PRISMA guidelines, Cochrane’s Risk of Bias assessment, and GRADE to assess evidence quality. Sensitivity analyses were also conducted. Results Out of 6,958 references retrieved, 14 of the 17 randomized controlled trials were analyzed, encompassing a total of 15,017 patients. Analyses for all-cause mortality did not reach statistical significance (RR= 0.95, 95%CI= 0.88-1.02 | trial sequential analysis RR= 0.95, 95%CI= 0.87-1.03). However, the analysis of hemorrhagic complications during treatment showed statistical significance for progressive intracranial hemorrhage (RR= 0.82, 95%CI= 0.68-0.99 | trial sequential analysis RR= 0.82, 95%CI= 0.38-1.78). Analyses of secondary outcomes, namely unfavorable neurological outcome and other adverse effects, did not demonstrate statistical significance. Conclusion Tranexamic acid use did not demonstrate efficacy based on all-cause mortality but showed a favorable safety profile. Additional clinical trials may shed light on remaining clinical uncertainties. Prospero database registration: CRD42021221949.

Abstract in English:

ABSTRACT Diabetes mellitus is a highly prevalent human endocrine disorder. Skin lesions are reported in approximately one-third of all diabetes mellitus patients. The clinical presentation and frequency vary according to the subtype of diabetes mellitus, metabolic control, and clinical course, with certain skin diseases occurring before diagnosing hyperglycemia. In this regard, the correct definition of cutaneous manifestations associated with diabetes mellitus can help define the etiology of hyperglycemia as well as the need to optimize glycemic control. In this narrative review, the most common cutaneous diseases observed in diabetes mellitus are discussed, including pruritus, acanthosis nigricans, necrobiosis lipoidica, bullosis diabeticorum, scleroderma diabeticorum, granuloma annulare, diabetic dermopathy, skin reactions due to device use, diabetic foot ulcers, recurrent cutaneous infections in diabetes mellitus and other dermatoses associated with hyperglycemia. The epidemiology, pathophysiology, differential diagnosis, and treatment of this disease are discussed. Therefore, knowledge and recognition of the most common dermatological lesions in patients with diabetes mellitus are essential for both endocrinologists and primary care physicians.

Abstract in English:

ABSTRACT Background Child immunization plays a critical role in preventing numerous diseases. However, the COVID-19) pandemic has profoundly disrupted healthcare systems globally, including routine child vaccination programs. Objective To provide an overview of the reduction in vaccine coverage among infants and children during the pandemic and analyze the potential impacts of decreased child immunization during this period. Methods A comprehensive search was conducted using the MeSH terms “Child,” “Vaccination”, and “COVID-19,” along with their synonyms. Systematic reviews published between March 11, 2020, and June 1, 2023, in Portuguese or English were included. Databases searched included PubMed, BVS (Biblioteca Virtual em Saúde), Embase, and Scopus. Two blinded independent reviewers performed the selection process, with conflicts resolved by a third reviewer. The AMSTAR-II tool was used to assess the methodological quality of the included studies. Results Of the 1,534 eligible articles, only 13 addressed the pandemic’s impact on children’s vaccination coverage. Most studies involved multiple countries and reported a significant decrease in children’s vaccination coverage due to the COVID-19 pandemic. Conclusion The findings were heterogeneous but consistently highlighted the substantial impact of the COVID-19 pandemic on routine vaccination coverage in most countries. Further research is needed to explore the epidemiological consequences of disruptions to vaccination schedules, potentially guiding public policies and raising awareness about the importance of adhering to health protection programs.

Abstract in English:

ABSTRACT Objective: To compare the effectiveness and safety of phacoviscocanalostomy and phacotrabeculectomy in treating combined glaucoma and cataracts. Methods: A systematic review and meta-analysis were conducted following the PRISMA guidelines. The PubMed, Web of Science, Cochrane, and Embase databases were searched for randomized controlled trials or observational studies comparing phacotrabeculectomy to phacoviscocanalostomy in patients with glaucoma and cataracts. Statistical analysis was used to compare the efficacy (intraocular pressure reduction, mean deviation of the visual field, and failure rates) and safety (general complication rate and rates of hyphema, hypotony, perforation, and intraocular pressure spikes) between the two procedures. Results: The study included 331 eyes from one randomized controlled trial and two non-randomized controlled trials, with 154 undergoing phacoviscocanalostomy and 177 undergoing phacotrabeculectomy. The results indicated no significant differences in surgical failure rates, mean deviation of the visual field, and intraocular pressure at one, three, six, and twelve months between the phacoviscocanalostomy and phacotrabeculectomy groups. Furthermore, although the overall complication rate between the two procedures showed no difference, the rate of intraocular pressure spikes was higher in patients who underwent phacoviscocanalostomy. Conclusion: Phacotrabeculectomy and phacoviscocanalostomy are effective treatments for glaucoma and cataracts. Prospero database registration: (www.crd.york.ac.uk/prospero) under ID CRD42024502391.

Abstract in English:

ABSTRACT Food allergies are the leading cause of anaphylaxis in children. Cofactors, such as exercise and non-steroidal anti-inflammatory drugs, may influence the occurrence and severity of allergic reactions to food. However, despite their relevance, the underlying mechanisms of cofactor-enhanced food allergies remain poorly understood. We report the case of a 12-year-old girl with mitochondrial DNA depletion syndrome who was referred to an allergy appointment due to suspected ibuprofen hypersensitivity. Detailed anamnesis, laboratory assessment, and negative drug challenge results excluded this diagnosis; however, continued follow-up revealed a crucial pattern on patient reactions that led to the diagnosis of a cofactor-enhanced food allergy with the presumed involvement of soy storage proteins and non-steroidal anti-inflammatory drugs. Our purpose was to highlight the non-negligible role of cofactors in food allergies and the importance of early identification. Moreover, to underscore the relevance of maintaining patient follow-up, as new information may arise and redirect the diagnosis.

Abstract in English:

ABSTRACT Kabuki syndrome is a rare congenital malformation with typical facial features, skeletal anomalies, delayed neuropsychomotor development and growth, and cardiac, genitourinary, gastrointestinal, endocrine, and dental anomalies. One of the main differential diagnoses is CHARGE syndrome, standing for and characterized by Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Restricted intellectual development, Genitourinary malformations, and Ear anomalies. Because these syndromes have similar characteristics, distinguishing them may be challenging. A 24-year-old male patient admitted with reduced renal function had a previous phenotype-based diagnosis of CHARGE syndrome based on many characteristic clinical features. The unveiling of a hypocalcemic crisis diagnosed as primary hypoparathyroidism at the age of 15 years, which did not fit into that diagnosis, led the nephrologist to request a genetic test, which evidenced a missense variant of uncertain significance in exon 38 of the KMT2D gene. This phenotype further suggested Kabuki syndrome, ruling out CHARGE. The present report highlights the importance of genetic testing and discusses phenotype-genotype correlations, which ultimately showed that specific variants in exon 38 rendered a form of Kabuki syndrome distinct from the typical one.

Abstract in English:

ABSTRACT Dengue, a vector-borne acute febrile illness caused by members of the Flavivirus genus, has dramatically increased its occurrence worldwide. Neurological complications of dengue range from 2.63 to 40%, and subarachnoid hemorrhage is a rare, but significant manifestation. Hemophagocytic lymphohistiocytosis is a life-threatening hyperinflammatory syndrome, sometimes secondary to infections such as dengue. This report presents a rare case of severe dengue with subarachnoid hemorrhage and hemophagocytic lymphohistiocytosis. A 19-year-old male presented with a 7-day history of fever and myalgia, followed by severe headache and vomiting. Initial examination revealed high fever, hepatosplenomegaly, and pancytopenia. Lumbar puncture confirmed via computed tomography showed a Fisher Grade 2 subarachnoid hemorrhage with a small aneurysm at the junction of the left anterior coronary and anterior communicating arteries. Secondary hemophagocytic lymphohistiocytosis was diagnosed based on the criteria from 2004, with elevated inflammatory markers, hypertriglyceridemia, and hyperferritinemia. The patient was treated conservatively with intravenous fluids, osmotic diuretics, antiepileptics, steroids, and nimodipine. The patient showed clinical improvement and was discharged on the 11th day. Isolated subarachnoid hemorrhage is rare in dengue. The hyperinflammatory state in hemophagocytic lymphohistiocytosis, which is often overlooked due to nonspecific symptoms, can lead to aneurysm formation and rupture. Persistent fever, cytopenia, and hyperferritinemia should raise suspicion of hemophagocytic lymphohistiocytosis in cases of severe dengue with neurological complications. In patients with severe dengue and intracranial hemorrhage, clinicians should remain cautious for hemophagocytic lymphohistiocytosis to reduce the associated morbidity and mortality.

Abstract in English:

ABSTRACT Azacitidine is a hypomethylating agent recommended for the treatment of patients with high-risk myelodysplastic syndromes. Here, we report the case of a patient with myelodysplastic syndrome who was not eligible for allogeneic stem cell transplantation (allo-SCT) and presented with a rare and previously unreported cutaneous side effect after the use of subcutaneous azacitidine. We propose that changing the route of azacitidine administration from subcutaneous to intravenous could potentially decrease the occurrence of bullous pemphigoid-like localized toxic reactions in some patients.

Abstract in English:

ABSTRACT A 49-year-old woman presented with a 16-year history of burning pain, warmth, redness, and edema in both toes, feet, legs and calves. Despite extensive medical testing, including genetic analysis, no specific cause was identified. Initial treatments failed to improve symptoms, leading to impaired quality of life and mental health. Eventually, a six-month course of intravenous immunoglobulin therapy provided complete relief, allowing the patient to resume normal activities. Erythromelalgia is a rare neurovascular condition characterized by pain, warmth, and erythema in the extremities. It can manifest as primary, inherited or sporadic, or secondary to underlying conditions, such as hematological neoplasms. Although genetic studies suggest a pivotal role of a gain-of-function mutation in the Nav1.7 voltage-gated sodium channel in familial cases, the pathogenesis underlying sporadic adult-onset cases remains uncertain. The frequent coexistence of autoimmune connective tissue diseases and the expanding evidence supporting immunotherapies in idiopathic small-fiber neuropathies underscores the possible involvement of adaptive immunity in such conditions. Given the potential complications in untreated patients, risks associated with long-term opioid therapy, and the absence of disease-modifying strategies, intravenous immunoglobulins may offer a more effective approach to pain control than conventional pain relievers, representing a promising direction for understanding the pathogenesis of erythromelalgia.

Abstract in English:

ABSTRACT The etiologies of vulvar nodules range from infectious to neoplastic. Owing to the wide spectrum of vulvar diseases, clinical differentiation of the lesions is crucial for adequate diagnosis and management. A 46-year-old patient presented with a nodular lesion in the vulvar region that had been growing slowly for 10 years. Gynecological examination revealed the presence of a solid nodular lesion measuring approximately 3 cm in the middle third of the right labia majora without phlogistic signs or secretion discharge. The lesion was excised and an anatomopathological study revealed a nodular hidradenoma. Nodular hidradenoma is a rare benign neoplasm of the apocrine glands that mainly affects women between 30 and 60 years of age. Although generally asymptomatic, some symptoms have been described, such as itching, pain, ulceration, or secretory discharge. The diagnosis was made by an anatomopathological study, and treatment consisted of total excision of the lesion without the need to enlarge the margin. During the investigation, malignant lesions such as liposarcoma of the vulvar region and non-melanoma skin cancers were excluded. Differential diagnosis is important because it requires a more invasive approach and surgical margins. This report aimed to expand the knowledge of the diagnosis of vulvar hidradenoma to exclude the possibility of malignant neoplasia while caring for vulvar nodules, thereby allowing proper management of the case.