Carotid baroreceptor dysfunction after carotid body tumour resections.

OBJECTIVE: Carotid body tumours (CBTs) and baroreceptor failure (BRF) are two distinct but interrelated conditions, affecting the carotid body and its regulatory mechanisms. We aim to describe and quantify BRF after unilateral and bilateral CBT resections. METHODS: Prospective cohort study. We included all patients with unilateral or bilateral CBT undergoing resection from April 2021 to January 2023. Demographics and CBTs characteristics were analysed; baroreceptor sensitivity assessment was conducted using the Composite Autonomic Severity Score (CASS). Statistical analyses were performed using R. Significance level was set at a 2-tailed α = 0.05. RESULTS: A total of 30 patients with CBT underwent surgical resection, twenty-three were included in the study (18 unilateral and 5 bilateral CBTs). All 23 (100 %) were females, median age of 60 years. Regarding patients with unilateral CBT; preoperatively, 13 had BRF, the most common dysfunction subtype was mixed. Postoperatively, the most common dysfunction subtype was sympathetic failure. With regards to bilateral CBTs; 2 patients did not have autonomic dysfunction preoperatively. After bilateral surgical resection one patient remained without autonomic dysfunction; however, all other patients persisted with BRF. CONCLUSION: BRF was present in 13 patients with unilateral CBT and 3 patients with bilateral tumours preoperatively; most will remain with BRF and will only change the characteristics postoperatively. No associations were found between type, severity of BRF and Shamblin classification or laterality. It is paramount that research in this area continues as many features are yet unknown regarding CBT pathogenesis, hence, BRF may be present yet not affect significantly quality of life.

TANK-Binding Kinase 1 Mutation as a Rare Cause of Frontotemporal Dementia in a Mexican Patient: The First Case Report in a Tertiary Referral Hospital in Mexico.

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.

Physiological and clinical impact in the carotid baroreceptor function following the surgical management of bilateral carotid body tumors.

OBJECTIVE: The bilateral presentation of Carotid Body Tumors (CBT) is rare; the surgical resection of these masses remains the mainstay management due to the malignant potential. We aim to describe, classify, and quantify baroreceptor failure (BRF) after the surgical management of patients with bilateral CBT to better understand the clinical consequences. METHODS: Retrospective review of patients that underwent bilateral CBT resection to assess the changes in baroreceptor function. We describe the clinical events associated to BRF after surgery, baseline patient's demographics, characteristics, comorbidities. Additionally, clinical and a quantitative evaluation of baroreceptor sensitivity were conducted using the Composite Autonomic Severity Score (CASS). RESULTS: From 1986 to 2020, a total 146 CBT resections were performed in 132 patients in our institution. Tumors were removed bilaterally in staged procedures in seven patients with a mean age of 61 years (Standard Deviation 11), six (85%) were females, and there was no family history of paragangliomas. The clinical presentation were palpable masses in 5 (71%), and odynophagia in 2 (29%) cases; malignant histopathology following surgery was found in one case. BRF occurred in one patient after unilateral CBT resection, consisting of bradycardia and a 40 s asystole that was not previously associated to BR sensitivity. Three (43%) patients presented BRF in the immediate postoperative period of the contralateral CBT excision, consisting of volatile hypertensive crisis in two cases, and supraventricular tachycardia in one. All the patients developed (100%) chronic baroreceptor sensitivity symptoms consisting in syncope, vertigo and fatigue in 4 (57%), tachycardia in 2 (28%), and orthostatic headache in one (14%). Autonomic testing showed mixed sympathetic and parasympathetic failure in five (71%), severe sympathetic failure in 1 (14%), and parasympathetic dysfunction in one patient (14%). CONCLUSIONS: Postoperative autonomic assessment confirmed BRF in all studied patients that underwent staged bilateral CBT resection with mixed, sympathetic, and parasympathetic dysfunction. Further studies are necessary to evaluate the incidence and physiological mechanisms of these sequelae to anticipate possible complications and offer the appropriate perioperative management.

The Methylenetetrahydrofolate Reductase C677T (rs1801133) and Apolipoprotein A5-1131T>C (rs662799) Polymorphisms, and Anemia Are Independent Risk Factors for Ischemic Stroke.

BACKGROUND: Although there is adequate knowledge as to the role of traditional cardiovascular risk factors on stroke incidence, knowledge of other risk factors, particularly genetic ones, is still incomplete. METHODS: To assess the participation of some polymorphisms, along with other modifiable risk factors, a case-control study was conducted. A total of 253 cases were identified in the emergency room of a general regional hospital, with a clinical trait of stroke confirmed by a skull computerized axial tomography scan. In the surgery ward, 253 controls were identified, gender and age (±5 years) matched. Biochemical parameters were measured, and 4 polymorphisms were genotyped by polymerase chain reaction, rs1801133 (methylenetetrahydrofolate reductase [MTHFR]), rs1498373 (dimethylarginine dimethylaminohydrolase type 1 [DDAH1]), rs662799 (apolipoprotein A5 [APOA5]), and rs1799983 (endothelial nitric oxide). Odds ratios were estimated to assess the strength of association, with 95% confidence intervals, both in a matched case-control analysis and in a conditional regression analysis. RESULTS: Cases had higher mean blood pressure and triglycerides and lower hemoglobin levels. Heterozygous and homozygous subjects to the rs1801133 variant of the MTHFR gene had a 3-fold higher risk of stroke. In the dominant model, those with the polymorphism rs662799 of the promoter region for APOA5 had twice the risk of stroke. Anemia increased the risk of stroke 4-fold. CONCLUSIONS: Polymorphisms of the genes MTHFR (rs1801133) and APOA5 (rs662799), as well as anemia, are independent risk factors for stroke in Mexicans, together with traditional cardiovascular risk factors such as high triglycerides and high blood pressure.