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1.
Mayo Clin Proc Digit Health ; 2(2): 192-206, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38983444

RESUMEN

Mobile phone applications (MPAs) for substance use disorder (SUD) treatment are increasingly used by patients. Although pilot studies have shown promising results, multiple previous systematic reviews noted insufficient evidence for MPA use in SUD treatment-many of the previously published reviews evaluated different trials. Subsequently, we aimed to conduct an umbrella review of previously published reviews investigating the efficacy of MPAs for SUD treatment, excluding nicotine/tobacco because umbrella reviews have been done in this population and the nicotine/tobacco MPA approach often differs from SUD-focused MPAs. No previous reviews have included a statistical meta-analysis of clinical trials to quantify an estimated overall effect. Seven reviews met inclusion criteria, and 17 unique studies with available data were taken from those reviews for the meta-analysis. Overall, reviews reported a lack of evidence for recommending MPAs for SUD treatment. However, MPA-delivered recovery support services, cognitive behavioral therapy, and contingency management were identified across multiple reviews as having promising evidence for SUD treatment. Hedges g effect size for an MPA reduction in substance use-related outcomes relative to the control arm was insignificant (0.137; 95% CI, -0.056 to 0.330; P=.16). In subgroup analysis, contingency management (1.29; 95% CI, 1.088-1.482; τ 2=0; k=2) and cognitive behavioral therapy (0.02; 95% CI, 0.001-0.030; τ 2=0; k=2) were significant. Although contingency management's effect was large, both trials were small (samples of 40 and 30). This review includes an adapted framework for the American Psychiatric Association's MPA guidelines that clinicians can implement to review MPAs critically with patients.

2.
Per Med ; 21(3): 139-144, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38634413

RESUMEN

We report the clinical presentation and genetic screening of a 31-year-old man with dilatation of the aortic root and ascending aorta and a positive family history for aortic dissection and sudden death. A novel heterozygous variant in a splice acceptor site (c.1600-1G>T) of TGFßR2 gene was identified by using a targeted multi-gene panel analysis. Bioinformatics tools predicted that the c.1600-1G>T variant is pathogenic by altering acceptor splice site at - 1 position affecting pre-mRNA splicing. These data confirm that the diverging splicing in the TGF-ß pathway genes may be an important process in aneurismal disease and emphasize the utility of genetic sequencing in the identification of high-risk patients for a more patient's management able to improve outcomes and minimize costs for the care of patients with heritable thoracic aortic aneurysm and dissection.


[Box: see text].


Asunto(s)
Aneurisma de la Aorta Torácica , Disección Aórtica , Receptor Tipo II de Factor de Crecimiento Transformador beta , Humanos , Masculino , Adulto , Disección Aórtica/genética , Receptor Tipo II de Factor de Crecimiento Transformador beta/genética , Aneurisma de la Aorta Torácica/genética , Linaje , Aneurisma de la Aorta/genética , Empalme del ARN/genética , Sitios de Empalme de ARN/genética , Predisposición Genética a la Enfermedad/genética , Mutación/genética
3.
Brain Sci ; 14(3)2024 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-38539616

RESUMEN

Cannabis use disorder (CUD) is a growing public health concern, with rising prevalence and significant impact on individuals across age groups. This systematic review examines 24 studies investigating pharmacological and non-pharmacological interventions for CUD among adolescents (up to 17), young adults (18-24), and older adults (25-65). Database searches were conducted for randomized controlled trials of CUD interventions reporting outcomes such as cannabis use, abstinence, withdrawal symptoms, and treatment retention. For adolescents, interventions such as contingent rewards and family engagement have shown promise, while young adults benefit from technology-based platforms and peer support. In older adults, pharmacological adjuncts combined with counseling have shown promise in enhancing treatment outcomes. However, optimal treatment combinations remain uncertain, highlighting the need for further research. Addressing CUD requires tailored interventions that acknowledge developmental stages and challenges across the lifespan. Although promising interventions exist, further comparative effectiveness research is needed to delineate the most efficacious approaches.

4.
J Cardiovasc Dev Dis ; 11(1)2024 Jan 20.
Artículo en Inglés | MEDLINE | ID: mdl-38276657

RESUMEN

The prenatal diagnosis of congenital heart disease (CHD) represents, for both parents, a particularly stressful and traumatic life event from a psychological point of view. The present review sought to summarize the findings of the most relevant literature on the psychological impact of prenatal diagnosis of CHD on parents, describing the most common mechanisms employed in order to face this unexpected finding. We also highlight the importance of counseling and the current gaps in the effects of psychological support on this population.

5.
Rev. APS (Online) ; 26(Único): e262341459, 22/11/2023.
Artículo en Portugués | LILACS, BDENF | ID: biblio-1566054

RESUMEN

O estudo objetiva avaliar o uso, conhecimento e perfil de prescrição de plantas medicinais e fitoterápicos como intervenção em saúde da mulher por usuárias e profissionais da Atenção Primária à Saúde de Mossoró/RN. Os dados foram coletados, entre dezembro de 2021 e fevereiro de 2022, através da aplicação de questionários semiestruturados a 100 usuárias e 19 profissionais. Constatou-se que 74% das usuárias fazem uso de plantas medicinais e 54% as utilizam para enfermidades femininas. Foram citadas 21 espécies para saúde feminina, indicadas principalmente para infecção, inflamação, cólicas menstruais e cicatrização. A maioria está em concordância com o uso indicado na literatura, contudo, evidenciaram-se potenciais riscos, como uso de espécies contraindicadas na gestação e de garrafadas. Ameixa (Ximenia americana) foi a espécie mais citada e jucá (Caesalpinia ferrea) a de maior valor de uso. Apenas 26,2% dos profissionais tiveram disciplinas específicas de fitoterapia na graduação, contudo, 78,9% afirmaram prescrever plantas medicinais e fitoterápicos. Para prescrição, apenas 26,3% e 5,3% dos profissionais utilizam o Memento Fitoterápico e o Formulário de Fitoterápicos da Farmacopeia Brasileira, respectivamente. Plantas medicinais desempenham importante papel no tratamento de afecções femininas, todavia, evidenciam-se falhas no conhecimento sobre fitoterapia e a necessidade de qualificação profissional para seu uso seguro.


The study aimed evaluates the use, knowledge, and prescription of medicinal plants and herbal medicines as intervention in women's health by users and professionals of Primary Health Care in Mossoró/RN. Data were collected, between December 2021 and February 2022, through the application of semi-structured questionnaires to 100 users and 19 professionals. It was found that 74% of users employ medicinal plants, and 54% use them for female illnesses. A total of 21 species were cited for women's health, indicated mainly to infection, inflammation, menstrual cramps, and healing. Most are following the use indicated in the literature; however, potential risks were verified (use of contraindicated species in pregnancy and preparations known as bottled). Ximenia americana was the most cited species and Caesalpinia ferrea has the most higher use value. Only 26.2% of the professionals had specific disciplines of phytotherapy in the undergraduate course, however, 78.9% stated that they prescribe medicinal plants and herbal medicines. For prescription, only 26.3% and 5.3% of professionals use the Phytotherapeutic Memento and Phytotherapeutic Formulary of the Brazilian Pharmacopoeia, respectively. Medicinal plants play an important role in the treatment of female conditions, however, gaps in knowledge about phytotherapy and the need for professional qualification for its safe use are evident.


Asunto(s)
Atención Primaria de Salud , Fitoterapia , Salud de la Mujer
6.
Mol Genet Metab ; 140(3): 107674, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37542768

RESUMEN

OBJECTIVES: Patients with PMM2-CDG develop acute events (stroke-like episodes (SLEs), thromboses, haemorrhages, seizures, migraines) associated with both clotting factors (factor XI) and coagulation inhibitors (antithrombin, protein C and protein S) deficiencies. The aim of the study was to correlate acute events to haemostasis and propose practical guidelines. METHODS: In this multicentric retrospective study, we evaluated clinical, radiological, haemostasis and electroencephalography data for PMM2-CDG patients hospitalized for acute events. Cerebral events were classified as thrombosis, haemorrhage, SLE, or "stroke mimic" (SM: normal brain imaging or evoking a migraine). RESULTS: Thirteen patients had a total of 31 acute episodes: 27 cerebral events with 7 SLEs, 4 venous thromboses, 4 haemorrhages (3 associated with thrombosis), 15 SMs at a mean age of 7.7 years; 4 non-cerebral thromboses, one of which included bleeding. A trigger was frequently involved (infection, head trauma). Although sometimes normal at baseline state, factor XI, antithrombin and protein C levels decreased during these episodes. No correlation between haemostasis anomalies and type of acute event was found. DISCUSSION: Acute events in PMM2-CDG are not negligible and are associated with haemostasis anomalies. An emergency protocol is proposed for their prevention and treatment (https://www.filiere-g2m.fr/urgences). For cerebral events, brain Magnetic Resonance Imaging with perfusion weight imaging and diffusion sequences, electroencephalogram and haemostasis protein levels guide the treatment: anticoagulation, antithrombin or fresh frozen plasma supplementation, antiepileptic therapy. Preventing bleeding and thrombosis is required in cases of surgery, prolonged immobilization, hormone replacement therapy. CONCLUSION: Acute events in PMM2-CDG are associated with abnormal haemostasis, requiring practical guidance.


Asunto(s)
Trastornos Congénitos de Glicosilación , Fosfotransferasas (Fosfomutasas) , Accidente Cerebrovascular , Trombosis , Humanos , Niño , Proteína C , Estudios Retrospectivos , Factor XI , Trastornos Congénitos de Glicosilación/patología , Antitrombinas , Hemostasis , Hemorragia
7.
Sci Rep ; 13(1): 10367, 2023 06 26.
Artículo en Inglés | MEDLINE | ID: mdl-37365209

RESUMEN

In recent years, studies have found that Sarcopenia alters inflammatory biomarkers. However, the behavior of inflammatory biomarkers at different stages of Sarcopenia is not well understood. This study aimed to compare a broad panel of inflammatory biomarkers in older women at different stages of Sarcopenia. The study included 71 Brazilian community-dwelling older women. Muscle Strength was assessed by using handgrip strength (Jamar dynamometer). The Short Physical Performance Battery (SPPB) was performed to assess the physical performance, and body composition was assessed by DEXA. Sarcopenia was diagnosed and classified according to the EWGSOP2 criteria. Blood was drawn, and inflammatory biomarkers associated with Sarcopenia (IL-2, IL-4, IL-5, IL-6, IL-8, IL-10, TNF, adiponectin, leptin, resistin, BDNF, sTNFr-1 and sTNFr-2) was analysed. After diagnosis and classification of sarcopenia, 45% of women did not present Sarcopenia (NS, N = 32), 23.9% were diagnosed with Sarcopenia Probable (SP, N = 17), 19,7% with Sarcopenia Confirmed (SC, N = 14), and 11.3% with Severe Sarcopenia (SS, N = 8). The analysis of inflammatory biomarkers revealed that the more advanced the stage of Sarcopenia, the higher the levels of BDNF, IL-8, sTNFr-1, and sTNFr-2. The assessment of BDNF, IL-8, sTNFr-1, and sTNFr-2 levels may be an adjuvant tool in diagnosis and severity classification of Sarcopenia in older Brazilian women.


Asunto(s)
Sarcopenia , Humanos , Femenino , Anciano , Sarcopenia/diagnóstico , Fuerza de la Mano/fisiología , Factor Neurotrófico Derivado del Encéfalo , Interleucina-8 , Estudios Transversales , Biomarcadores
9.
Fertil Steril ; 119(4): 626-633, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36592649

RESUMEN

OBJECTIVE: To evaluate the prevalence on magnetic resonance imaging (MRI) of ovarian endometrioma (OMA) and deep infiltrating endometriosis (DIE) in adolescents presenting with severe dysmenorrhea. DESIGN: Prospective study. SETTING: Clinic. PATIENT(S): A total of 345 adolescents aged 12-20 years referred to the radiologic MRI department unit between September 2019 and June 2020. INTERVENTION(S): Multiplanar pelvic MRI with cine MRI was performed. Data on the medical history with systematic questioning were collected for each patient before the scan. MAIN OUTCOME MEASURE(S): Data on the endometriosis phenotypes (OMA and/or DIE), distribution of anatomical lesions, and adenomyosis were evaluated and recorded using a dedicated MRI spreadsheet. Myometrial contractions were systematically reported for each case. The data were correlated with the characteristics of the patients and severity of painful symptoms evaluated using a visual analog scale. RESULT(S): The prevalence rates of endometriosis and adenomyosis were 39.3% (121 patients) and 11.4% (35 patients), respectively. Among the adolescents with endometriosis, 25 (20.7%) presented with OMA, and 107 (88.4%) presented with DIE. The odds ratios (confidence intervals) for each pairwise comparison between the age distributions were 2.3 (1.4-3.8) for 15-18 vs. <15 years of age and 3.3 (1.2-8.5) for 18-20 vs. <15 years of age, highlighting a predominance of cases after 18 years of age. Uterine contractions were visualized in 34.4% of cases, with no particular association with endometriosis. No clinical risk factor was identified as being particularly associated with endometriosis. Notably, the visual analog scale score was the same for cases with and without endometriosis. CONCLUSION(S): Severe endometriosis phenotypes (OMA and/or DIE) can be observed in adolescents with intense dysmenorrhea, with a linear increase in prevalence over time resulting in a clear predominance after 18 years of age. Endometriosis in adolescents is a challenging clinical problem with a long delay in diagnosis. Imaging can help reduce this delay in young patients with suggestive symptoms. CLINICAL TRIAL REGISTRATION NUMBER: NCT05153512.


Asunto(s)
Adenomiosis , Endometriosis , Femenino , Humanos , Embarazo , Adenomiosis/patología , Dismenorrea/diagnóstico por imagen , Dismenorrea/epidemiología , Dismenorrea/etiología , Endometriosis/diagnóstico por imagen , Endometriosis/epidemiología , Imagen por Resonancia Magnética , Prevalencia , Estudios Prospectivos
10.
Sci Rep ; 13(1): 1553, 2023 01 27.
Artículo en Inglés | MEDLINE | ID: mdl-36707661

RESUMEN

Certain cut-off points for sarcopenia screening and diagnosis are arbitrary and based on European populations, with normative references often obtained from healthy young adults. Although respiratory skeletal muscle strength tests represent low-cost clinical measures commonly performed in clinical practice by health professionals, a gap remains regarding whether respiratory skeletal muscle strength tests are adequate and sensitive measures for sarcopenia screening. This study aimed to verify the value of handgrip and respiratory muscle strength as possible discriminators to identify sarcopenia and to establish cut-off points for sarcopenia screening in community-dwelling, Brazilian women. In a cross-sectional study, 154 community-dwelling, Brazilian women (65-96 years) were assessed for appendicular skeletal muscle mass, handgrip (HGS), and respiratory muscular strength, including maximal inspiratory pressure (MIP) and maximal expiratory pressure (MEP). The data were analyzed using the ROC curve and the Youden Index determined cut-off points. Statistical significance was set at 5%. 88 participants (57%) were sarcopenic. MEP (OR 0.98 [95%CI 0.97, 1.00], p = 0.023) and HGS (OR 0.82 [95% CI 0.75, 0.90], p < 0.001) were independent factors for sarcopenia in older. The optimal cut-off points for identifying sarcopenia were ≤ 77 cmH2O for MEP (AUC = 0.72), and ≤ 20 kg for HGS (AUC = 0.80). Simple muscular strength tests, including HGS and MEP, may be considered in the identification of sarcopenia in older, community-dwelling, Brazilian women. Future work is still needed to assess external validation of the proposed cut-offs before the clinical application.


Asunto(s)
Sarcopenia , Adulto Joven , Humanos , Femenino , Anciano , Sarcopenia/diagnóstico , Fuerza de la Mano/fisiología , Vida Independiente , Brasil , Estudios Transversales , Fuerza Muscular/fisiología , Músculo Esquelético , Músculos Respiratorios
11.
J Clin Med ; 11(23)2022 Dec 02.
Artículo en Inglés | MEDLINE | ID: mdl-36498747

RESUMEN

Inflammation is a chronic, sterile, low-grade inflammation that develops with advanced age in the absence of overt infection and may contribute to the pathophysiology of sarcopenia, a progressive and generalized skeletal muscle disorder. Furthermore, a series of biomarkers linked to sarcopenia occurrence have emerged. To aid diagnostic and treatment strategies for low muscle mass in sarcopenia and other related conditions, the objective of this work was to investigate potential biomarkers associated with appendicular lean mass in community-dwelling older women. This is a cross-sectional study with 71 older women (75 ± 7 years). Dual-energy X-ray absorptiometry was used to assess body composition. Plasmatic blood levels of adipokines (i.e., adiponectin, leptin, and resistin), tumor necrosis factor (TNF) and soluble receptors (sTNFr1 and sTNFr2), interferon (INF), brain-derived neurotrophic factor (BDNF), and interleukins (IL-2, IL-4, IL-5, IL-6, IL-8, and IL-10) were determined by enzyme-linked immunosorbent assay. Older women with low muscle mass showed higher plasma levels of adiponectin, sTNFr1, and IL-8 compared to the regular muscle mass group. In addition, higher adiponectin plasma levels explained 14% of the lower appendicular lean mass. High adiponectin plasmatic blood levels can contribute to lower appendicular lean mass in older, community-dwelling women.

12.
EBioMedicine ; 84: 104246, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36099812

RESUMEN

BACKGROUND: Primary Ovarian Insufficiency (POI), a public health problem, affects 1-3.7% of women under 40 yielding infertility and a shorter lifespan. Most causes are unknown. Recently, genetic causes were identified, mostly in single families. We studied an unprecedented large cohort of POI to unravel its molecular pathophysiology. METHODS: 375 patients with 70 families were studied using targeted (88 genes) or whole exome sequencing with pathogenic/likely-pathogenic variant selection. Mitomycin-induced chromosome breakages were studied in patients' lymphocytes if necessary. FINDINGS: A high-yield of 29.3% supports a clinical genetic diagnosis of POI. In addition, we found strong evidence of pathogenicity for nine genes not previously related to a Mendelian phenotype or POI: ELAVL2, NLRP11, CENPE, SPATA33, CCDC150, CCDC185, including DNA repair genes: C17orf53(HROB), HELQ, SWI5 yielding high chromosomal fragility. We confirmed the causal role of BRCA2, FANCM, BNC1, ERCC6, MSH4, BMPR1A, BMPR1B, BMPR2, ESR2, CAV1, SPIDR, RCBTB1 and ATG7 previously reported in isolated patients/families. In 8.5% of cases, POI is the only symptom of a multi-organ genetic disease. New pathways were identified: NF-kB, post-translational regulation, and mitophagy (mitochondrial autophagy), providing future therapeutic targets. Three new genes have been shown to affect the age of natural menopause supporting a genetic link. INTERPRETATION: We have developed high-performance genetic diagnostic of POI, dissecting the molecular pathogenesis of POI and enabling personalized medicine to i) prevent/cure comorbidities for tumour/cancer susceptibility genes that could affect life-expectancy (37.4% of cases), or for genetically-revealed syndromic POI (8.5% of cases), ii) predict residual ovarian reserve (60.5% of cases). Genetic diagnosis could help to identify patients who may benefit from the promising in vitro activation-IVA technique in the near future, greatly improving its success in treating infertility. FUNDING: Université Paris Saclay, Agence Nationale de Biomédecine.


Asunto(s)
Infertilidad , Insuficiencia Ovárica Primaria , Femenino , Humanos , Infertilidad/complicaciones , Mitomicinas , FN-kappa B , Medicina de Precisión , Insuficiencia Ovárica Primaria/etiología
13.
Mol Cell Endocrinol ; 558: 111756, 2022 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-36084853

RESUMEN

This study compared the effects of aerobic physical training and estradiol (E2) replacement on central pathways involved with thermoregulation in ovariectomized rats. Rats were assigned to untrained ovariectomized treated with placebo (UN-OVX), untrained ovariectomized treated with E2 (E2-OVX), and trained ovariectomized (TR-OVX) groups. Tail skin temperature (TST), internal temperature (Tint), and basal oxygen consumption (VO2) were recorded. Neuronal activity, brain expression of Kiss1, NKB and Prodyn, and central norepinephrine (NE) levels were measured. UN-OVX had the highest TST. Compared to UN-OVX rats, TR-OVX and E2-OVX had lower Fos expression in the paraventricular and arcuate (ARC) nuclei, and lower double labeling for Tyrosine Hydroxylase and Fos in the brainstem. Compared to UN-OVX, only TR-OVX group exhibited lower kisspeptin (Kiss1), neurokinin B (NKB), and prodynorphin expression in the ARC and higher central NE levels. Aerobic physical training before menopause may prevent the heat dissipation imbalance induced by reduction of E2, through central NE release, modulation of Kiss1, NKB and prodynorphin expression in neurons from ARC nucleus.


Asunto(s)
Kisspeptinas , Neuroquinina B , Femenino , Humanos , Ratas , Animales , Kisspeptinas/metabolismo , Neuroquinina B/metabolismo , Tirosina 3-Monooxigenasa/metabolismo , Ovariectomía , Estradiol/farmacología , Norepinefrina/metabolismo , Regulación de la Temperatura Corporal
14.
Am J Addict ; 31(6): 535-545, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-36062888

RESUMEN

BACKGROUND AND OBJECTIVES: Substance use disorders (SUDs) are chronic relapsing diseases characterized by significant morbidity and mortality. Phenomenologically, patients with SUDs present with a repeating cycle of intoxication, withdrawal, and craving, significantly impacting their diagnosis and treatment. There is a need for better identification and monitoring of these disease states. Remote monitoring chronic illness with wearable devices offers a passive, unobtrusive, constant physiological data assessment. We evaluate the current evidence base for remote monitoring of nonalcohol, nonnicotine SUDs. METHODS: We performed a systematic, comprehensive literature review and screened 1942 papers. RESULTS: We found 15 studies that focused mainly on the intoxication stage of SUD. These studies used wearable sensors measuring several physiological parameters (ECG, HR, O2 , Accelerometer, EDA, temperature) and implemented study-specific algorithms to evaluate the data. DISCUSSION AND CONCLUSIONS: Studies were extracted, organized, and analyzed based on the three SUD disease states. The sample sizes were relatively small, focused primarily on the intoxication stage, had low monitoring compliance, and required significant computational power preventing "real-time" results. Cardiovascular data was the most consistently valuable data in the predictive algorithms. This review demonstrates that there is currently insufficient evidence to support remote monitoring of SUDs through wearable devices. SCIENTIFIC SIGNIFICANCE: This is the first systematic review to show the available data on wearable remote monitoring of SUD symptoms in each stage of the disease cycle. This clinically relevant approach demonstrates what we know and do not know about the remote monitoring of SUDs within disease states.


Asunto(s)
Trastornos Relacionados con Sustancias , Dispositivos Electrónicos Vestibles , Humanos , Ansia , Atención a la Salud , Trastornos Relacionados con Sustancias/diagnóstico , Trastornos Relacionados con Sustancias/terapia
16.
Orphanet J Rare Dis ; 17(Suppl 1): 261, 2022 07 12.
Artículo en Inglés | MEDLINE | ID: mdl-35821070

RESUMEN

Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in every 1/2500 liveborn girls. The most frequently observed karyotypes are 45,X (40-50%) and the 45,X/46,XX mosaic karyotype (15-25%). Karyotypes with an X isochromosome (45,X/46,isoXq or 45,X/46,isoXp), a Y chromosome, X ring chromosome or deletions of the X chromosome are less frequent. The objective of the French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins) is to provide health professionals with information about the optimal management and care for patients, based on a critical literature review and multidisciplinary expert consensus. The PNDS, written by members of the French National Reference Center for Rare Growth and Developmental Endocrine disorders, is available from the French Health Authority website. Turner Syndrome is associated with several phenotypic conditions and a higher risk of comorbidity. The most frequently reported features are growth retardation with short adult stature and gonadal dysgenesis. TS may be associated with various congenital (heart and kidney) or acquired diseases (autoimmune thyroid disease, celiac disease, hearing loss, overweight/obesity, glucose intolerance/type 2 diabetes, dyslipidemia, cardiovascular complications and liver dysfunction). Most of the clinical traits of TS are due to the haploinsufficiency of various genes on the X chromosome, particularly those in the pseudoautosomal regions (PAR 1 and PAR 2), which normally escape the physiological process of X inactivation, although other regions may also be implicated. The management of patients with TS requires collaboration between several healthcare providers. The attending physician, in collaboration with the national care network, will ensure that the patient receives optimal care through regular follow-up and screening. The various elements of this PNDS are designed to provide such support.


Asunto(s)
Diabetes Mellitus Tipo 2 , Síndrome de Turner , Adulto , Cromosomas Humanos X/genética , Femenino , Humanos , Cariotipo , Cariotipificación , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Síndrome de Turner/terapia
17.
J Neurol Sci ; 440: 120332, 2022 09 15.
Artículo en Inglés | MEDLINE | ID: mdl-35841696

RESUMEN

Existing pharmacological treatments for psychiatric disorders have demonstrated limited efficacy, delayed onset of action, and significant burden of side effects. Recent findings from human studies with psychedelics have shown promise, demonstrating rapid and sustained clinical benefits of these compounds for a variety of psychiatric disorders. Classical psychedelics have a rich history and some of these compounds have been used in shamanic and spiritual ceremonies for millennia. The psychoactive effects of these drugs, particularly on human consciousness, have generated great scientific curiosity, and early research on psychedelics suggested their clinical benefits for psychiatric conditions, including alcohol use disorders and anxiety and depressive symptoms in terminal illness and life-threatening conditions. Since the 1990s, after a period of dormancy that followed the criminalization of psychedelic drugs since the Controlled Substance Act of 1970, the continued interest in their unique psychoactive effects along with the pursuit for novel and more effective treatments in psychiatry have led to a renewed interest in research on these compounds. While preliminary findings on psychedelics are encouraging, current evidence is still insufficient to support extensive use of these drugs routinely. Long-term safety and efficacy of these compounds remain unclear, and several clinical trials are underway and may add clarity to these questions. Therefore, this article intends to provide an overview of the evidence to date on psychedelic drugs - particularly psilocybin, MDMA, and LSD - for the treatment of psychiatric disorders.


Asunto(s)
Alcoholismo , Alucinógenos , Trastornos Mentales , Alucinógenos/farmacología , Alucinógenos/uso terapéutico , Humanos , Dietilamida del Ácido Lisérgico/farmacología , Dietilamida del Ácido Lisérgico/uso terapéutico , Trastornos Mentales/tratamiento farmacológico , Psilocibina/farmacología , Psilocibina/uso terapéutico
18.
Psychiatry Res Neuroimaging ; 324: 111494, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-35640450

RESUMEN

Bipolar disorder (BD) is a highly variable and burdensome disease for patients and caregivers. A BD diagnosis almost triples the likelihood of developing dementia as the disease progresses. Neurocognitive reserve appears to be one of the most important influences on lifelong functional outcomes and quality of life in BD. Though several prior studies have assessed the effects of lithium on regional gray and white matter volumes in this population, representative cohorts are typically middle-aged, have a more severe pathology, and are not as commonly assessed in the depressive phase (which represents the majority of most patients' lifespans outside of remission). Here we have shown that positive adaptations with lithium can be observed throughout the brain after only six weeks of monotherapy at low-therapeutic serum levels. Importantly, these results remove some confounders seen in prior studies (patients were treatment free at time of enrollment and mostly treatment naïve). This cohort also includes underrepresented demographics in the literature (young adult patients, mostly bipolar II, and exclusively in the depressed phase). These findings bolster the extensive body of evidence in support of long-term lithium therapy in BD, furthering the possibility of its expanded use to wider demographics.


Asunto(s)
Trastorno Bipolar , Trastorno Bipolar/diagnóstico por imagen , Trastorno Bipolar/tratamiento farmacológico , Humanos , Litio/uso terapéutico , Compuestos de Litio/farmacología , Compuestos de Litio/uso terapéutico , Imagen por Resonancia Magnética/métodos , Persona de Mediana Edad , Calidad de Vida , Adulto Joven
19.
Sci Rep ; 12(1): 8764, 2022 05 24.
Artículo en Inglés | MEDLINE | ID: mdl-35610295

RESUMEN

Previous studies have highlighted the positive effects of Estradiol (E2) replacement therapy and physical exercise on skeletal muscle during menopause. However, the comparison effects of exercise training (ET) and estradiol replacement therapy during menopause on skeletal muscle have not been investigated to date. This study aimed to compare the effects of endurance exercise training versus E2 replacement therapy on mitochondrial density, redox status, and inflammatory biomarkers in the skeletal muscle of ovariectomized rats. Thirty female Wistar rats (12-week-old) were randomly assigned into three groups: Untrained ovariectomized rats (UN-OVX, n = 10); untrained ovariectomized rats treated with estradiol replacement therapy (E2-OVX); and, trained ovariectomized rats (TR-OVX). After ovariectomy, the E2-OVX rats were treated subcutaneously with E2 (implanted Silastic® capsule containing 360 µg of 17ß-estradiol/mL) while the TR-OVX group performed an exercise training protocol (50-70% of maximal running speed on a treadmill, 60 min/day, 5 days/week for 8 weeks). After euthanasia, the soleus muscle was processed for histological and biochemical evaluations. Only exercise prevented the reduction of maximal oxygen consumption and increased mechanical efficiency (ME). While mitochondrial muscle density, total antioxidant capacity (FRAP), catalase (CAT) activity, and interleukin 10 levels were higher in TR-OVX, only OVX-E2 presented higher CAT activity and lower interleukin 6 levels. Endurance exercise training compared with E2 replacement therapy maintains the aerobic capacity improving the ME of OVX rats. In addition, only endurance exercise training raises the skeletal muscle mitochondrial content and tends to balance the redox and inflammatory status in the skeletal muscle of OVX rats.


Asunto(s)
Condicionamiento Físico Animal , Animales , Estradiol/farmacología , Femenino , Terapia de Reemplazo de Hormonas , Humanos , Músculo Esquelético , Ovariectomía , Condicionamiento Físico Animal/fisiología , Ratas , Ratas Wistar
20.
Rev. med (São Paulo) ; 101(3): e-183634, 2022.
Artículo en Inglés, Portugués | LILACS-Express | LILACS | ID: biblio-1392295

RESUMEN

Apesar do uso de plantas medicinais para tratamento de problemas de saúde ser tradicionalmente aceito, esta prática da medicina popular ainda encontra resistência por profissionais da saúde, sobretudo sob a alegação da falta de comprovação de seus efeitos. Durante o surto de Covid-19, houve aumento significativo do estresse, sintomas ansiosos e insônia e o uso de plantas medicinais e fitoterápicos surge como uma alternativa terapêutica. O objetivo deste estudo foi realizar uma revisão da literatura sobre a eficácia de plantas medicinais como terapia alternativa e/ou complementar para transtornos de ansiedade e insônia. As plantas investigadas foram selecionadas a partir do Formulário de Fitoterápicos e Memento Fitoterápico da Farmacopeia Brasileira, sendo utilizados como descritores o nome científico da planta e os termos "anxiety" e "insomnia" com recorte temporal de 2015 a 2020. 230 resultados foram encontrados, 42 selecionados (27 em humanos e 15 em animais). Foi possível demonstrar efeitos ansiolíticos para as plantas capim santo (Cymbopogon citratus), lavanda (Lavandula officinalis), melissa (Melissa officinalis), maracujá (Passiflora incarnata)e valeriana (Valeriana officinalis) e sedativos para melissa, maracujá e valeriana. A kava-kava (Piper methysticum) demonstrou apenas efeito sedativo e a camomila (Matricaria chamomilla) apresentou eficácia clínica ansiolítica. Portanto, a potencial aplicação clínica dessas plantas é indicada para tratamento dos sintomas de ansiedade e insônia, ajudando a reduzir os sintomas psicológicos decorrentes da pandemia de Covid-19. Contudo, vale ressaltar a necessidade da padronização dos procedimentos metodológicos e avanço da fitoterapia na prática médica. [au]


Although the use of medicinal plants to treat health problems is traditionally accepted, this practice of popular medicine still finds resistance from health professionals, especially under the allegation of lack of scientific proof of its effects. During the outbreak of COVID-19, there was a significant increase in stress, anxiety, and insomnia symptoms, and the use of plants and herbal medicines emerged as a possible therapeutic alternative. The objective of this study was to conduct a literature review about the effectiveness of medicinal plants as an alternative and/or complementary therapy for anxiety and insomnia disorders. The main medicinal plants were selected from the Phytotherapeutic Formulary and Phytotherapeutic Memento of the Brazilian Pharmacopoeia, using the 'scientific name' and terms 'anxiety' and 'insomnia' as descriptors between 2015-2020. 230 results were found and 42 studies were selected (27 in humans and 15 in animals). Anxiolytic effects have been demonstrated to Cymbopogon citratus, Lavandula officinalis, Melissa officinalis, Passiflora incarnata, and Valeriana officinalis and sedatives effects to M. officinalis, P. incarnata, and V. officinalis. Piper methysticum revealed only a sedative effect and Matricaria chamomilla showed anxiolytic clinical efficacy. Then, the potential clinical application of these plants in the treatment of anxiety and insomnia symptoms is indicated, helping to reduce the psychological symptoms resulting from the Covid-19 pandemic. However, it is worth emphasizing the need to standardize methodological procedures and advance phytotherapy in medical practice. [au]

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