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1.
Cureus ; 15(10): e46371, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37800165

ABSTRACT

Situs inversus totalis (SIT) is a rare genetic condition characterized by the sagittal inversion of thoracoabdominal organs. Surgeons may face substantial challenges when dealing with surgical pathologies in SIT patients, particularly those involving the gallbladder and bile ducts, such as cholelithiasis and acute cholecystitis. In this report, we present the case of a 46-year-old male with a previously known diagnosis of SIT, who presented with recurrent episodes of atypical abdominal pain. Cholelithiasis was diagnosed through ultrasound and as a result, elective surgery was scheduled. In addition, we detail the adjustments implemented by our surgical team in the laparoscopic cholecystectomy procedure, which contributed to a successful surgical outcome. Nevertheless, like any patient, those with SIT are not exempt from postoperative complications, as detailed in this case. Hence, we emphasize the importance of comprehensive preoperative diagnostics to reduce the risk of perioperative complications in this group of patients.

2.
Cureus ; 15(8): e43954, 2023 Aug.
Article in English | MEDLINE | ID: mdl-37622054

ABSTRACT

Frontotemporal dementia (FTD) is a heterogeneous condition characterized by changes in behavior, personality, and language resulting from degeneration of the frontal and/or temporal lobes. A wide spectrum of clinical syndromes and an overlap with different motor disorders make this entity challenging for clinicians, both in achieving a correct diagnosis and providing proper treatment. Despite the majority of cases being sporadic, FTD has a hereditary component, and more than 10 disease-causing genes have been identified. We present the case of a Mexican patient with a positive family history of neurocognitive disorders who developed early-onset behavioral symptoms, cognitive alterations, and motor disturbances. After a comprehensive study and multiple assessments by various medical services, a molecular diagnosis was achieved by documenting a loss-of-function mutation in the TANK-binding kinase 1 (TBK1) gene, an extremely rare cause of FTD. Genetic diagnosis is crucial in these situations, as this mutation has been associated with rapid disease progression and the potential development of motor syndromes during its course. Our case underscores the challenges involved in reaching an accurate diagnosis, highlighting the importance of molecular testing. A thorough family history, past medical records, and a detailed description of symptom onset and progression are imperative, as they can significantly influence both treatment approaches and prognosis. Diagnostic errors, combined with their subsequent inappropriate treatment, can further deteriorate patients' quality of life.

3.
Cureus ; 15(6): e40046, 2023 Jun.
Article in English | MEDLINE | ID: mdl-37425507

ABSTRACT

Introduction Meningiomas have been described as slow-growing neoplasms with benign behavior derived from the connective tissue surrounding the brain and spinal cord. Meningiomas represent one-third of primary central nervous system (CNS) tumors. The World Health Organization (WHO) initially classified them into three groups based on their histopathological characteristics, recently incorporating molecular patterns. Small cohorts have been reported in Latin America compared to the international literature. Ignoring the epidemiology of meningiomas in this region and considering this limitation, we aim to study the epidemiology of meningiomas in our country, Mexico. Material and methods A historical cohort was carried out on 916 patients diagnosed with intracranial meningiomas from January 2008 to January 2021, considering sociodemographic, topographic, and histopathological characteristics. Results In this study, 69.4% (n=636) of patients were women with a mean overall age of 47.53 (SD=14.85) years; 79.6% (n=729) of the lesions were supratentorial with convexity meningiomas being the most prevalent at 32.6% (n=299). Histopathologically, transitional (45.7%) (n=419), meningothelial (22.1%) (n=202), and fibroblastic (16.7%) (n=153) meningiomas were the most frequent. We found significant differences between men and women in age (p=0.01), infra or supratentorial presentation (p<0.001), location of the lesion (p<0.001), and histopathological characteristics (p<0.001). Conclusions Our results are consistent with what has been reported; however, until now, it appears as the largest series reported in our country and Latin America.

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