1.Normal ossification of the glenoid mimicking a glenoid fracture in an adolescent patient: a case report
María GALÁN-OLLEROS ; Rosa M. EGEA-GÁMEZ ; Ángel PALAZÓN-QUEVEDO ; Sergio MARTÍNEZ-ÁLVAREZ ; Olga M. SUÁREZ TRABA ; Marta Escribano PÉREZ
Clinics in Shoulder and Elbow 2023;26(3):306-311
A 13-year-old male was diagnosed with a glenoid fracture following direct shoulder trauma, for which surgical treatment was considered. After referral to a center for pediatric orthopedic care, physical examination, contralateral shoulder X-ray, and detailed computed tomography examination ruled out the presence of fracture; these findings were later confirmed by magnetic resonance imaging. Normal ossification patterns in the adolescent shoulder may simulate a fracture in traumatic settings. To accurately diagnose and manage pediatric shoulder pathology, orthopedic surgeons must be aware of the normal anatomy of the growing shoulder, its secondary ossification centers, and growth plates.
2.Characterization and evaluation of liver fibrosis grade in patients with chronic hepatitis B virus infection and normal transaminases.
San Juan López CRISTINA ; Casado Martín MARTA ; González Sánchez MERCEDES ; Porcel Martín ALMUDENA ; Hernández Martínez ÁLVARO ; Vega Sáenz Jose LUIS ; Parrón Carreño TESIFÓN
Clinical and Molecular Hepatology 2018;24(4):384-391
BACKGROUND/AIMS: The objective of our study was to determine the epidemiological, laboratory, and serological characteristics of patients with chronic hepatitis B virus (HBV) infection and normal transaminases. The study also aimed to evaluate liver damage by measuring the liver fibrosis (LF) grade and to identify possible factors associated with the presence of fibrosis. METHODS: A retrospective observational study was conducted in patients with chronic HBV infection and classified as inactive carriers or immune-tolerant. Epidemiological variables of age, sex, immigrant, alcohol consumption, and body mass index (BMI), as well as virological variables (HBV DNA) and transaminase level were collected throughout the follow-up. The LF grade was evaluated by transient elastography. The cutoff value for significant fibrosis (SF) was liver stiffness ≥7.9 kPa. RESULTS: A total of 214 patients were included in the analysis, and 62% of them had a BMI ≥25 kg/m². During follow-up, 4% of patients showed transaminase elevation ( < 1.5 times normal). Most patients had a viral DNA level < 2,000 IU/mL (83%). Data on LF were available in 160 patients; of these, 14% had SF, 9% F3, and 6% F4. The variables associated with the presence of SF were transaminase alteration during follow-up, as 23% of patients with SF had elevated transaminases versus 3% of patients without SF (P < 0.005), and BMI, as the vast majority of patients with SF (88%) had a BMI ≥25 kg/m² versus 56% of patients without SF (P < 0.05). CONCLUSIONS: In patients with chronic HBV infection and normal transaminases, liver damage does not seem to be related to DNA levels, alcohol consumption, or immigrant status. SF seems to be associated with transaminase alteration during follow-up and elevated BMI. It is therefore recommended to measure LF grade with validated non-invasive methods in such patients.
Alcohol Drinking
;
Body Mass Index
;
DNA
;
DNA, Viral
;
Elasticity Imaging Techniques
;
Emigrants and Immigrants
;
Fibrosis
;
Follow-Up Studies
;
Hepatitis B e Antigens
;
Hepatitis B, Chronic*
;
Hepatitis, Chronic*
;
Humans
;
Liver Cirrhosis*
;
Liver*
;
Observational Study
;
Retrospective Studies
;
Transaminases*
3.Diagnosis of catecholaminergic polymorphic ventricular tachycardia during late adulthood due to a rare genetic variant in RYR2: a case report
Laura GARCÍA‑CANO ; Thomas André BROUZET ; Amaya GARCÍA‑FERNÁNDEZ ; José Luis IBÁÑEZ‑CRIADO ; Marta MONTEAGUDO‑VIANA ; Alicia IBÁÑEZ‑CRIADO ; Juan Gabriel MARTÍNEZ‑MARTÍNEZ
International Journal of Arrhythmia 2021;22(3):13-
Background:
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe hereditary channelopathy characterized by the presence of ventricular arrhythmias triggered by adrenergic stimuli, usually diagnosed in the first two decades of life. Genetic variants in the cardiac ryanodine receptor gene are the most frequently occurring that cause an increase in intracellular calcium concentration and thus induce ventricular arrhythmias due to a delayed after depolarisation-induced triggered activity.Case presentationWe present the case of a 74-year-old male, a regular athlete with no relevant family history who suffered from sinus dysfunction and frequent premature ventricular complexes with no symptoms. A treadmill test revealed severe polymorphic ventricular arrhythmias which led to the suspicion of CPVT. A genetic study was undertaken, and it identified a rare genetic variant in the RYR2 gene which was possibly associated with its development in heterozygosity: c.14465G > A, p.Arg4822His. While evaluating the co-segregation, we observed that most of his relatives exhibit polymorphic ventricular arrhythmias with exertion without symptoms and carried the same variant.
Conclusions
We described, for the first time, the clinical characteristics and co-segregation of a family diagnosed with CPVT secondary to a little-known genetic variant of the RYR2 gene. It is a variant that, in our case study, suggests an association with a very good prognosis.
4.Diagnosis of catecholaminergic polymorphic ventricular tachycardia during late adulthood due to a rare genetic variant in RYR2: a case report
Laura GARCÍA‑CANO ; Thomas André BROUZET ; Amaya GARCÍA‑FERNÁNDEZ ; José Luis IBÁÑEZ‑CRIADO ; Marta MONTEAGUDO‑VIANA ; Alicia IBÁÑEZ‑CRIADO ; Juan Gabriel MARTÍNEZ‑MARTÍNEZ
International Journal of Arrhythmia 2021;22(3):13-
Background:
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe hereditary channelopathy characterized by the presence of ventricular arrhythmias triggered by adrenergic stimuli, usually diagnosed in the first two decades of life. Genetic variants in the cardiac ryanodine receptor gene are the most frequently occurring that cause an increase in intracellular calcium concentration and thus induce ventricular arrhythmias due to a delayed after depolarisation-induced triggered activity.Case presentationWe present the case of a 74-year-old male, a regular athlete with no relevant family history who suffered from sinus dysfunction and frequent premature ventricular complexes with no symptoms. A treadmill test revealed severe polymorphic ventricular arrhythmias which led to the suspicion of CPVT. A genetic study was undertaken, and it identified a rare genetic variant in the RYR2 gene which was possibly associated with its development in heterozygosity: c.14465G > A, p.Arg4822His. While evaluating the co-segregation, we observed that most of his relatives exhibit polymorphic ventricular arrhythmias with exertion without symptoms and carried the same variant.
Conclusions
We described, for the first time, the clinical characteristics and co-segregation of a family diagnosed with CPVT secondary to a little-known genetic variant of the RYR2 gene. It is a variant that, in our case study, suggests an association with a very good prognosis.
5.Timing of Recanalization and Functional Recovery in Acute Ischemic Stroke
Georgios TSIVGOULIS ; Maher SAQQUR ; Vijay K. SHARMA ; Alejandro BRUNSER ; Jürgen EGGERS ; Robert MIKULIK ; Aristeidis H. KATSANOS ; Theodore N. SERGENTANIS ; Konstantinos VADIKOLIAS ; Fabienne PERREN ; Marta RUBIERA ; Reza BAVARSAD SHAHRIPOUR ; Huy Thang NGUYEN ; Patricia MARTÍNEZ-SÁNCHEZ ; Apostolos SAFOURIS ; Ioannis HELIOPOULOS ; Ashfaq SHUAIB ; Carol DERKSEN ; Konstantinos VOUMVOURAKIS ; Theodora PSALTOPOULOU ; Anne W. ALEXANDROV ; Andrei V. ALEXANDROV ;
Journal of Stroke 2020;22(1):130-140
Background:
and Purpose Although onset-to-treatment time is associated with early clinical recovery in acute ischemic stroke (AIS) patients treated with intravenous tissue plasminogen activator (tPA), the effect of the timing of tPA-induced recanalization on functional outcomes remains debatable.
Methods:
We conducted a multicenter, prospective observational cohort study to determine whether early (within 1-hour from tPA-bolus) complete or partial recanalization assessed during 2-hour real-time transcranial Doppler monitoring is associated with improved outcomes in patients with proximal occlusions. Outcome events included dramatic clinical recovery (DCR) within 2 and 24-hours from tPA-bolus, 3-month mortality, favorable functional outcome (FFO) and functional independence (FI) defined as modified Rankin Scale (mRS) scores of 0–1 and 0–2 respectively.
Results:
We enrolled 480 AIS patients (mean age 66±15 years, 60% men, baseline National Institutes of Health Stroke Scale score 15). Patients with early recanalization (53%) had significantly (P<0.001) higher rates of DCR at 2-hour (54% vs. 10%) and 24-hour (63% vs. 22%), 3-month FFO (67% vs. 28%) and FI (81% vs. 39%). Three-month mortality rates (6% vs. 17%) and distribution of 3-month mRS scores were significantly lower in the early recanalization group. After adjusting for potential confounders, early recanalization was independently associated with higher odds of 3-month FFO (odds ratio [OR], 6.19; 95% confidence interval [CI], 3.88 to 9.88) and lower likelihood of 3-month mortality (OR, 0.34; 95% CI, 0.17 to 0.67). Onset to treatment time correlated to the elapsed time between tPA-bolus and recanalization (unstandardized linear regression coefficient, 0.13; 95% CI, 0.06 to 0.19).
Conclusions
Earlier tPA treatment after stroke onset is associated with faster tPA-induced recanalization. Earlier onset-to-recanalization time results in improved functional recovery and survival in AIS patients with proximal intracranial occlusions.
6.Risk of Cognitive Impairment in Patients With Parkinson’s Disease With Visual Hallucinations and Subjective Cognitive Complaints
Diego SANTOS-GARCÍA ; Teresa de Deus FONTICOBA ; Carlos Cores BARTOLOMÉ ; Maria J. Feal PAINCEIRAS ; Jose M. Paz GONZÁLEZ ; Cristina Martínez MIRÓ ; Silvia JESÚS ; Miquel AGUILAR ; Pau PASTOR ; Lluís PLANELLAS ; Marina COSGAYA ; Juan García CALDENTEY ; Nuria CABALLOL ; Ines LEGARDA ; Jorge Hernández VARA ; Iria CABO ; Lydia López MANZANARES ; Isabel González ARAMBURU ; Maria A. Ávila RIVERA ; Víctor Gómez MAYORDOMO ; Víctor NOGUEIRA ; Víctor PUENTE ; Julio Dotor GARCÍA-SOTO ; Carmen BORRUÉ ; Berta Solano VILA ; María Álvarez SAUCO ; Lydia VELA ; Sonia ESCALANTE ; Esther CUBO ; Francisco Carrillo PADILLA ; Juan C. Martínez CASTRILLO ; Pilar Sánchez ALONSO ; Maria G. Alonso LOSADA ; Nuria López ARIZTEGUI ; Itziar GASTÓN ; Jaime KULISEVSKY ; Marta Blázquez ESTRADA ; Manuel SEIJO ; Javier Rúiz MARTÍNEZ ; Caridad VALERO ; Mónica KURTIS ; Oriol de FÁBREGUES ; Jessica González ARDURA ; Ruben Alonso REDONDO ; Carlos ORDÁS ; Luis M. López DÍAZ L ; Darrian MCAFEE ; Pablo MARTINEZ-MARTIN ; Pablo MIR ;
Journal of Clinical Neurology 2023;19(4):344-357
Background:
and Purpose Visual hallucinations (VH) and subjective cognitive complaints (SCC) are associated with cognitive impairment (CI) in Parkinson’s disease. Our aims were to determine the association between VH and SCC and the risk of CI development in a cohort of patients with Parkinson’s disease and normal cognition (PD-NC).
Methods:
Patients with PD-NC (total score of >80 on the Parkinson’s Disease Cognitive Rating Scale [PD-CRS]) recruited from the Spanish COPPADIS cohort from January 2016 to November 2017 were followed up after 2 years. Subjects with a score of ≥1 on domain 5 and item 13 of the Non-Motor Symptoms Scale at baseline (V0) were considered as “with SCC” and “with VH,” respectively. CI at the 2-year follow-up (plus or minus 1 month) (V2) was defined as a PD-CRS total score of <81.
Results:
At V0 (n=376, 58.2% males, age 61.14±8.73 years [mean±SD]), the frequencies of VH and SCC were 13.6% and 62.2%, respectively. VH were more frequent in patients with SCC than in those without: 18.8% (44/234) vs 4.9% (7/142), p<0.0001. At V2, 15.2% (57/376) of the patients had developed CI. VH presenting at V0 was associated with a higher risk of CI at V2 (odds ratio [OR]=2.68, 95% confidence interval=1.05–6.83, p=0.039) after controlling for the effects of age, disease duration, education, medication, motor and nonmotor status, mood, and PD-CRS total score at V0. Although SCC were not associated with CI at V2, presenting both VH and SCC at V0 increased the probability of having CI at V2 (OR=3.71, 95% confidence interval=1.36–10.17, p=0.011).
Conclusions
VH were associated with the development of SCC and CI at the 2-year follow-up in patients with PD-NC.
7.Oxidative stress, the blood-brain barrier and neurodegenerative diseases: The critical beneficial role of dietary antioxidants.
Jin FENG ; Youle ZHENG ; Mingyue GUO ; Irma ARES ; Marta MARTÍNEZ ; Bernardo LOPEZ-TORRES ; María-Rosa MARTÍNEZ-LARRAÑAGA ; Xu WANG ; Arturo ANADÓN ; María-Aránzazu MARTÍNEZ
Acta Pharmaceutica Sinica B 2023;13(10):3988-4024
In recent years, growing awareness of the role of oxidative stress in brain health has prompted antioxidants, especially dietary antioxidants, to receive growing attention as possible treatments strategies for patients with neurodegenerative diseases (NDs). The most widely studied dietary antioxidants include active substances such as vitamins, carotenoids, flavonoids and polyphenols. Dietary antioxidants are found in usually consumed foods such as fresh fruits, vegetables, nuts and oils and are gaining popularity due to recently growing awareness of their potential for preventive and protective agents against NDs, as well as their abundant natural sources, generally non-toxic nature, and ease of long-term consumption. This review article examines the role of oxidative stress in the development of NDs, explores the 'two-sidedness' of the blood-brain barrier (BBB) as a protective barrier to the nervous system and an impeding barrier to the use of antioxidants as drug medicinal products and/or dietary antioxidants supplements for prevention and therapy and reviews the BBB permeability of common dietary antioxidant suplements and their potential efficacy in the prevention and treatment of NDs. Finally, current challenges and future directions for the prevention and treatment of NDs using dietary antioxidants are discussed, and useful information on the prevention and treatment of NDs is provided.