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1.
Arch Womens Ment Health ; 27(2): 259-264, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38082004

RESUMEN

Little is known about substance use among women with infertility, yet substance use has implications for fertility and pregnancy. The purpose was to estimate the prevalence of substance use among women with infertility and examine whether substance use was associated with psychiatric symptoms, active attempts to conceive, and engagement in fertility treatments. Eligible patients were from a single healthcare system who received a female infertility diagnosis within the past 2 years. Participants (n = 188) completed an online questionnaire regarding substance use, psychiatric symptoms, attempts to conceive, and fertility treatments. The prevalence of hazardous alcohol use, any cannabis use, and hazardous cannabis use were 30.3%, 30.9%, and 8.5%, respectively. Hazardous alcohol use was not associated with psychiatric symptoms (p > .05). Those with any cannabis use were more likely to have higher depression scores than those without (p = .02). Those with hazardous cannabis use were more likely to have higher depression scores (p = .001) and higher anxiety scores (p = .03). Substance use was not associated with actively trying to conceive. Those pursuing fertility treatments had a lower percentage engaging in hazardous alcohol use compared to those not pursuing fertility treatments (19.0% vs. 36.3%, p = .02). Substance use among women with infertility is common. Hazardous cannabis use was associated with greater psychiatric symptoms, suggesting that cannabis may be used to cope with distress. Pursuing fertility treatments may serve as a protective factor for hazardous alcohol use. Clinicians treating patients with infertility may want to screen for substance use.


Asunto(s)
Cannabis , Infertilidad Femenina , Trastornos Relacionados con Sustancias , Embarazo , Humanos , Femenino , Infertilidad Femenina/epidemiología , Infertilidad Femenina/terapia
2.
Surg Endosc ; 37(11): 8263-8268, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37670188

RESUMEN

BACKGROUND: Nearly two-thirds of patients engage in alcohol use after bariatric surgery, while a substantial number meet criteria for alcohol use disorder after their procedure. Given that pre-surgical education may not be sufficient, alternative methods of preventing post-surgical drinking are needed. We sought feedback on a proposed technology-based intervention to reduce alcohol use for individuals who have undergone bariatric surgery. METHODS: Twenty patients who consumed alcohol post-surgery completed qualitative interviews where they provided opinions on sample intervention content, delivery method, timing, and other aspects of a two-session web-based intervention followed by tailored text messaging for 6 months. Interviews were recorded, transcribed, and coded using thematic analysis principles. RESULTS: Participants strongly endorsed using technology to deliver an alcohol intervention, citing the interactivity and personal tailoring available in the proposed software. Education about the effects of post-surgical drinking and learning new coping strategies for social situations were the two most salient themes to emerge from questions about intervention content. Throughout the interviews, participants strongly highlighted the importance of measuring patient readiness to change alcohol use and matching intervention content to such motivation levels. Respondents felt that text messages could extend what they had learned, but also requested additional non-alcohol content (e.g., recipes, exercise tips). Most participants agreed that an online forum consisting of peers and professionals with whom they could ask questions and interact would be useful. CONCLUSION: Web- and text message-based interventions may be an acceptable approach to prevent alcohol use post-bariatric surgery.


Asunto(s)
Alcoholismo , Cirugía Bariátrica , Envío de Mensajes de Texto , Humanos , Alcoholismo/prevención & control , Consumo de Bebidas Alcohólicas/prevención & control , Motivación
3.
Surg Endosc ; 37(5): 3669-3675, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36639579

RESUMEN

INTRODUCTION: Patients who have undergone bariatric surgery are at increased risk of an alcohol use disorder. Though patients understand this risk, the majority engage in post-surgical alcohol use. This suggests that education alone is not sufficient to reduce post-surgical drinking. To prevent development of post-surgical alcohol use disorders, we need better understanding of the reasons patients use alcohol following surgery. The purpose of this study was to identify factors associated with post-surgical alcohol use. METHOD: Patients (N = 20) who were 1-3 years post-bariatric surgery and were consuming alcohol at least twice monthly participated in a 60-min interview. Participants responded about their knowledge regarding risk of post-surgical alcohol use and reasons why patients may start drinking. Deductive and inductive coding were completed by two independent raters. RESULTS: Although nearly all participants were aware of the risks associated with post-surgical alcohol use, most believed that lifelong abstinence from alcohol was unrealistic. Common reasons identified for using alcohol after bariatric surgery included social gatherings, resuming pre-surgical use, and addiction transfer. Inductive coding identified three themes: participants consumed alcohol in different ways compared to prior to surgery; the effect of alcohol was substantially stronger than pre-surgery; and beliefs about why patients develop problematic alcohol use following surgery. CONCLUSION: Patients consume alcohol after bariatric surgery for a variety of reasons and they do not believe recommending abstinence is useful. Understanding patient perceptions can inform interventions to minimize alcohol use after bariatric surgery. Modifications to traditional alcohol relapse prevention strategies may provide a more robust solution to decreasing negative outcomes experienced by individuals undergoing bariatric surgery.


Asunto(s)
Alcoholismo , Cirugía Bariátrica , Obesidad Mórbida , Humanos , Alcoholismo/prevención & control , Alcoholismo/etiología , Cirugía Bariátrica/efectos adversos , Consumo de Bebidas Alcohólicas , Etanol , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/prevención & control , Obesidad Mórbida/cirugía
4.
Surg Endosc ; 37(8): 6315-6321, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-37202524

RESUMEN

INTRODUCTION: Although cannabis is known to stimulate appetite, it is not clear whether cannabis use may impact weight loss outcomes following bariatric surgery. Although some work has suggested that pre-surgical cannabis use is not associated with post-surgical weight loss, the role of post-surgical cannabis use has not yet been examined. The purpose of this study was to measure pre- and post-surgical cannabis use and determine whether cannabis use was associated with weight loss outcomes following bariatric surgery. METHODS: Patients who underwent bariatric surgery over a 4-year period at a single health care system were invited to complete a survey regarding pre- and post-surgical cannabis use and report their current weight. Pre-surgical weight and BMI were extracted from medical records to calculate change in BMI (ΔBMI), percent total weight loss (%TWL), percent excess weight loss (%EWL), whether participants experienced a successful weight loss outcome, and whether participants had weight recurrence. RESULTS: Among all participants (N = 759), 10.7% and 14.5% engaged in pre- and post-surgical cannabis use, respectively. Pre-surgical cannabis use was not associated with any weight loss outcomes (p > 0.05). Any post-surgical cannabis use was associated with lower %EWL (p = 0.04) and greater likelihood of weight recurrence (p = 0.04). Weekly cannabis use was associated with lower %EWL (p = 0.003), lower %TWL (p = 0.04), and a lower likelihood of having a successful weight loss outcome (p = 0.02). CONCLUSIONS: Although pre-surgical cannabis use may not predict weight loss outcomes, post-surgical cannabis was associated with poorer weight loss outcomes. Frequent use (i.e., weekly) may be especially problematic. Providers should consider screening patients for cannabis use and educate them about the potential impact of postoperative cannabis use on weight loss following bariatric surgery.


Asunto(s)
Cirugía Bariátrica , Cannabis , Obesidad Mórbida , Humanos , Resultado del Tratamiento , Obesidad Mórbida/cirugía , Obesidad Mórbida/complicaciones , Índice de Masa Corporal , Estudios Retrospectivos , Pérdida de Peso
5.
J Reprod Infant Psychol ; : 1-12, 2023 Jun 13.
Artículo en Inglés | MEDLINE | ID: mdl-37310021

RESUMEN

OBJECTIVE: Examine demographic, psychosocial, pregnancy-related, and healthcare utilisation factors associated with suicide mortality among reproductive age women. METHODS: Data from nine health care systems in the Mental Health Research Network were included. A case-control study design was used in which 290 reproductive age women who died by suicide (cases) from 2000 to 2015 were matched with 2,900 reproductive age women from the same healthcare system who did not die by suicide (controls). Conditional logistic regression was used to analyse associations between patient characteristics and suicide. RESULTS: Women of reproductive age who died by suicide were more likely to have mental health (aOR = 7.08, 95% CI: 5.17, 9.71) or substance use disorders (aOR = 3.16, 95% CI: 2.19, 4.56) and to have visited the emergency department in the year prior to index date (aOR = 3.47, 95% CI: 2.50, 4.80). Non-Hispanic White women (aOR = 0.70, 95% CI: 0.51, 0.97) and perinatal (pregnant or postpartum) women were less likely to have died by suicide (aOR = 0.27, 95% CI: 0.13, 0.58). CONCLUSIONS: Reproductive age women with mental health and/or substance use disorders, prior emergency department encounters, or who are of racial or ethnic minority status were at increased risk of suicide mortality and may benefit from routine screening and monitoring. Future research should further examine the relationship between pregnancy-related factors and suicide mortality.

6.
Arch Womens Ment Health ; 25(1): 21-32, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34175997

RESUMEN

The purpose of this systematic review is to evaluate the prevalence of disordered eating and eating disorders among women seeking fertility treatment.Observational studies were searched in Ovid MEDLINE, Web of Science, Embase, and PsycInfo. Studies published prior to September 2020 when the search was conducted were considered. Inclusion criteria included (1) original and empirical research, (2) published in a peer-reviewed journal, and (3) reported on disordered eating among women seeking fertility treatment in the sample or reported on prevalence of eating disorders among women seeking fertility treatment in the sample. Independent screening of abstracts was conducted by two authors (LH and AH). Ten studies met the inclusion criteria. Sample size, study location, measures, and results for each study in this review were reported.Among women pursuing fertility treatment, rates of current eating disorders ranged from 0.5 to 16.7%, while past eating disorder prevalence rates ranged from 1.4 to 27.5%. Current anorexia nervosa or bulimia nervosa was reported by up to 2% and 10.3% of women, respectively, while history of anorexia nervosa or bulimia nervosa was reported by up to 8.5% and 3.3% of women, respectively. Binge eating disorder or other eating disorders were reported by up to 18.5% and 9.1% of women, respectively. Disordered eating pathology was endorsed by 1.6 to 48% of women seeking fertility treatment. Endorsement of pathological eating attitudes was generally higher among women seeking fertility treatment with current or past eating disorders as compared to community samples, with the exception of dietary restraint. Rates of current and past eating disorders are higher among women seeking fertility treatment than in the general population. Providers treating women with infertility should be cognizant of these prevalence rates and consider screening for eating pathology in their patients as this may contribute to their likelihood of successful conception and/or subsequent pregnancy outcomes.


Asunto(s)
Anorexia Nerviosa , Bulimia Nerviosa , Bulimia , Trastornos de Alimentación y de la Ingestión de Alimentos , Bulimia/terapia , Trastornos de Alimentación y de la Ingestión de Alimentos/epidemiología , Femenino , Humanos , Prevalencia
7.
Subst Use Misuse ; 57(9): 1492-1496, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35786298

RESUMEN

INTRODUCTION: Given the risks of opioids for pain management, we need nonpharmacological interventions that patients will engage in and that can reduce opioid use. The purpose was to examine whether offering a psychological intervention in primary care can engage patients receiving opioids for pain management and to explore whether the intervention influences opioid use. METHODS: This was a secondary analysis of a pilot randomized controlled trial (RCT) of a 5-session psychological intervention in primary care for chronic pain. Patients with chronic pain (N = 220) were approached to enroll in the RCT. Electronic health records were reviewed to determine whether patients were prescribed opioids or pain medications at the time they were approached about the RCT and the 6-months following the intervention. RESULTS: Enrollees and non-enrollees had similar rates of opioid prescriptions, morphine milligram equivalent dose of opioids, and rates of other pain medication prescriptions (p> .05). However, no males with an opioid prescription enrolled. Though not significant, those in the intervention had lower odds of having an opioid prescription 6 months following the intervention (p= .09, OR= .32). Those randomized to the intervention had lower odds of having a non-opioid pain medication prescription (p= .01, OR= .17). CONCLUSIONS: Having an opioid prescription did not interfere with enrollment, suggesting that primary care may be useful for engaging patients on opioids in a psychological treatment for chronic pain. However, this may be true for women, and not men. This intervention also showed promise for decreasing opioid use and warrants further study.


Asunto(s)
Dolor Crónico , Trastornos Relacionados con Opioides , Analgésicos Opioides/uso terapéutico , Dolor Crónico/tratamiento farmacológico , Dolor Crónico/psicología , Femenino , Humanos , Trastornos Relacionados con Opioides/tratamiento farmacológico , Atención Primaria de Salud , Intervención Psicosocial
8.
Psychol Health Med ; 27(9): 1884-1890, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-34096405

RESUMEN

The purpose of this study was to estimate the prevalence of hazardous drinking in the four years after bariatric surgery and investigate whether there are differences between those undergoing Roux-en-Y gastric bypass and sleeve gastrectomy. Participants (N = 564) who underwent bariatric surgery between 2014 and 2017 completed a survey regarding post-surgical alcohol use. The rate of alcohol use following bariatric surgery was significantly higher among those between 1- and 4-years post-surgery compared to those less than 1-year post-surgery. Of those who were consuming alcohol at the time of participation, 16.1% had scores indicative of hazardous drinking. The rate of hazardous drinking among those 3-4 years post-surgery was greater than those less than 1-year post-surgery with 33.3% of patients engaging in hazardous drinking at 3-4 years post-surgery. Patients undergoing sleeve gastrectomy had similar rates of hazardous drinking as RYGB (16.3% vs. 15.7%). Thus, findings showed that rates of hazardous drinking were higher among those further removed from bariatric surgery and patients undergoing sleeve gastrectomy appeared to have similar rates of hazardous drinking as those who underwent RYGB. Results suggest a need for monitoring of alcohol use for all patients pursuing bariatric surgery, regardless of surgery type.


Asunto(s)
Cirugía Bariátrica , Derivación Gástrica , Obesidad Mórbida , Gastrectomía/métodos , Derivación Gástrica/métodos , Humanos , Obesidad Mórbida/epidemiología , Obesidad Mórbida/cirugía , Estudios Retrospectivos , Resultado del Tratamiento , Pérdida de Peso
9.
J Clin Psychol Med Settings ; 29(1): 162-167, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-34076825

RESUMEN

Acceptance of illness is related to better mental health among patients with chronic illness; however, this construct has not been evaluated as part of routine transplantation evaluations. The purpose of this study was to create a brief measure of acceptance of illness for patients pursuing organ transplantation and examine how acceptance is related to distress. Retrospective medical record reviews were conducted for 290 patients who completed a routine psychosocial evaluation prior to transplant listing which included the Illness Acceptance Scale (IAS). Internal consistency for the IAS was excellent (Cronbach's alpha = .92). Illness acceptance was negatively correlated with depression, anxiety, and catastrophizing and was not related to health literacy or health numeracy. The IAS is a reliable and valid measure for patients who are pursuing thoracic transplant or left ventricular assist device. Clinicians may want to screen transplant candidates for illness acceptance and refer those with lower levels to psychological interventions.


Asunto(s)
Alfabetización en Salud , Corazón Auxiliar , Ansiedad/psicología , Enfermedad Crónica , Corazón Auxiliar/psicología , Humanos , Estudios Retrospectivos
10.
J Reprod Infant Psychol ; : 1-12, 2022 May 17.
Artículo en Inglés | MEDLINE | ID: mdl-35582731

RESUMEN

BACKGROUND: Depression is common during pregnancy, can elevate risk for excessive or inadequate gestational weight gain (GWG), and is associated with both underutilisation and overutilisation of prenatal care. Whether GWG is associated with adequacy of prenatal care among women with and without depression in the United States is unknown. This study evaluated whether adequacy of prenatal care differed by depression status and GWG. METHODS: Data from the Pregnancy Risk Assessment Monitoring System from 1,379,870 women who were pregnant with a singleton and delivered at 37-42 weeks gestation during 2016 to 2018 were included. Depression was self-reported. The Kotelchuck index was used to evaluate adequacy of prenatal care. Maternal weight gain was compared to GWG guidelines. RESULTS: Approximately 13.1% of the sample experienced depression during pregnancy. Although those with depression had increased odds of both inadequate and above adequate levels of prenatal care, this association was no longer significant after accounting for demographics, medical comorbidities, and socioeconomic factors. Individuals with inadequate levels of prenatal care with a normal pre-pregnancy body mass index gained less weight during pregnancy. CONCLUSIONS: The association between depression and prenatal care utilisation seems driven by demographic, medical comorbidity, and socioeconomic variables. Weight outcomes were associated with inadequate prenatal care utilisation.

11.
Pain Pract ; 22(6): 564-570, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35665994

RESUMEN

BACKGROUND: Despite the existence of evidence-based psychological interventions for pain management, there are barriers that interfere with treatment engagement. A brief intervention integrated into primary care reduced barriers and showed promising benefits from pre- to post-intervention. However, it is unknown whether a brief intervention can provide long-term effects. The purpose of this study was to examine whether a brief psychological intervention offered benefits in pain severity, pain interference, pain catastrophizing, and depressive symptoms at 1- and 6-month follow-ups. METHODS: The majority of participants who enrolled in a pilot randomized clinical trial of a 5-session psychological intervention for chronic pain in primary care completed the 1-month (n = 54; 90%) and 6-month follow-ups (n = 50; 83.3%). Participants completed measures of pain severity, pain interference, pain catastrophizing, and depressive symptoms. RESULTS: From baseline to the 6-month follow-up, those in the intervention group had significantly better outcomes for pain severity (p = 0.01) and pain catastrophizing (p = 0.003) compared with the control group. There were no significant differences between the intervention and control groups for pain interference and depression. The percentage of patients in the intervention experiencing clinically significant improvement across all outcomes was higher than the control group. CONCLUSIONS: Findings suggest that a brief psychological intervention for chronic pain in primary care may offer longer-term benefits similar to that of lengthier interventions. Future studies should examine this through a randomized clinical trial with a larger sample size.


Asunto(s)
Dolor Crónico , Dolor Crónico/psicología , Intervención en la Crisis (Psiquiatría) , Humanos , Proyectos Piloto , Atención Primaria de Salud , Intervención Psicosocial
12.
Pain Med ; 22(7): 1603-1611, 2021 07 25.
Artículo en Inglés | MEDLINE | ID: mdl-33616190

RESUMEN

OBJECTIVE: Although evidence-based psychological interventions improve chronic pain, many patients do not engage in behavioral health services. Offering a brief intervention in a medical setting may provide benefits to patients with chronic pain. The purpose of this study was to examine preliminary outcomes of a brief psychological intervention for chronic pain delivered in primary care. DESIGN: Pilot randomized controlled trial. SETTING: Primary care clinic. SUBJECTS: Sixty participants with chronic pain were randomized to a 5-session psychological intervention or treatment-as-usual control group. METHODS: Participants completed pre- and post-intervention measures assessing pain severity, pain interference, pain catastrophizing, depression, and anxiety. RESULTS: Most participants (76.7%) randomized to the intervention completed all sessions. Compared to the control group, those in the intervention had decreases in pain severity (P = .048), pain catastrophizing (P = .04), and depression (P = .01) from pre- to post-intervention. Within the intervention group, there was a significant improvement in pain interference scores (P = 0.02). Within the intervention group, effect sizes were medium to large for changes in pain severity, pain interference, pain catastrophizing, and depression scores. There were no significant changes in anxiety scores. CONCLUSION: Results suggest that delivery of a brief psychological intervention for chronic pain in primary care appears to offer improvements in pain severity, pain interference, pain catastrophizing, and depression. Findings suggest that shorter-term psychological interventions may offer similar benefits as longer-term ones. Furthermore, offering a brief intervention in primary care may increase access and engagement in behavioral pain management services. Future research should examine this through a fully-powered trial with longer-term outcomes.


Asunto(s)
Dolor Crónico , Dolor Crónico/terapia , Intervención en la Crisis (Psiquiatría) , Depresión/terapia , Humanos , Proyectos Piloto , Atención Primaria de Salud , Intervención Psicosocial , Resultado del Tratamiento
13.
J Clin Psychol Med Settings ; 28(3): 596-602, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-33205321

RESUMEN

Patients undergoing bariatric surgery are at risk for devloping an alcohol use disorder (AUD). The purpose of this study was to investigate pre-surgical psychosocial risk factors for post-surgical alcohol consumption and hazardous drinking. Participants (N = 567) who underwent bariatric surgery between 2014 and 2017 reported their post-surgical alcohol use. Information was collected from the pre-surgical evaluation including history of alcohol use, psychiatric symptoms, and maladaptive eating behaviors (i.e., binge eating, purging, and emotional eating). Younger age and pre-surgical alcohol use predicted post-surgical alcohol use and hazardous drinking. In addition, higher levels of depressive symptoms and maladaptive eating patterns predicted post-surgical binge drinking. Clinicians conducting pre-surgical psychosocial evaluations should be aware of the multiple risk factors related to post-surgical problematic alcohol use. Future research should evaluate whether preventive interventions for high-risk patients decrease risk for post-surgical alcohol misuse.


Asunto(s)
Cirugía Bariátrica , Trastorno por Atracón , Bulimia , Obesidad Mórbida , Consumo de Bebidas Alcohólicas , Humanos , Obesidad Mórbida/cirugía
14.
Mol Genet Metab ; 126(4): 368-376, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30718057

RESUMEN

BACKGROUND: GALT deficiency is a rare genetic disorder of carbohydrate metabolism. Due to the decreased activity or absence of the enzyme galactose-1-phosphate uridylyltransferase (GALT), cells from affected individuals are unable to metabolize galactose normally. Lactose consumption in the newborn period could potentially lead to a lethal disease process with multi-organ involvement. In contrast to the newborn-stage disease, however, a galactose-restricted diet does not prevent long-term complications such as central nervous system (CNS) dysfunction with speech defects, learning disability and neurological disease in addition to hypergonadotropic hypogonadism or primary ovarian insufficiency (POI) in females. As the literature suggests an association between GALT enzyme activity and the long-term complications, it is of importance to have a highly sensitive assay to quantify the GALT enzyme activity. To that end, we had developed a sensitive and accurate LC-MS/MS method to measure GALT enzyme activity. Its ability to predict outcome is the subject of this report. MATERIALS AND METHODS: The GALT enzyme activity in erythrocytes from 160 individuals, in which 135 with classic, clinical variant or biochemical variant galactosemia, was quantified by LC-MS/MS. Individuals with GALT deficiency were evaluated for the long-term complications of speech defects, dysarthria, ataxia, dystonia, tremor, POI, as well as intellectual functioning (full scale IQ). The LC-MS/MS results were compared to a variety of assays: radioactive, [14C]-galactose-1-phosphate, paper chromatography with scintillation counting, enzyme-coupled assays with spectrophotometric or fluorometric readout or high-pressure liquid chromatography with UV detection of UDP-galactose. RESULTS: The LC-MS/MS method measured GALT activity as low as 0.2%, whereas other methods showed no detectable activity. Largely due to GALT activities that were over 1%, the LC-MS/MS measurements were not significantly different than values obtained in other laboratories using other methodologies. Severe long-term complications were less frequently noted in subjects with >1% activity. Patients with a p.Q188R/p.Q188R genotype have no residual enzyme activity in erythrocytes. CONCLUSION: Our LC-MS/MS assay may be necessary to accurately quantify residual GALT activities below 5%. The data suggest that patients with >1% residual activity are less likely to develop diet-independent long-term complications. However, much larger sample sizes are needed to properly assess the clinical phenotype in patients with residual enzyme activities between 0.1 and 5%.


Asunto(s)
Eritrocitos/enzimología , Galactosemias/diagnóstico , UTP-Hexosa-1-Fosfato Uridililtransferasa/sangre , Adolescente , Adulto , Anciano , Niño , Preescolar , Pruebas de Enzimas , Femenino , Galactosa/metabolismo , Humanos , Lactante , Masculino , Persona de Mediana Edad , Fenotipo , Estudios Retrospectivos , Sensibilidad y Especificidad , Espectrometría de Masas en Tándem , Adulto Joven
15.
Hum Mutat ; 39(12): 1875-1884, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30157302

RESUMEN

SMAD2 is a downstream effector in the TGF-ß signaling pathway, which is important for pattern formation and tissue differentiation. Pathogenic variants in SMAD2 have been reported in association with arterial aneurysms and dissections and in large cohorts of subjects with complex congenital heart disease (CHD). We used whole exome sequencing (WES) to investigate the molecular cause of CHD and other congenital anomalies in three probands and of an arterial aneurysm in an additional patient. Patients 1 and 2 presented with complex CHD, developmental delay, seizures, dysmorphic features, short stature, and poor weight gain. Patient 3 was a fetus with complex CHD and heterotaxy. The fourth patient is an adult female with aortic root aneurysm and physical features suggestive of a connective tissue disorder. WES identified pathogenic truncating variants, a splice variant, and a predicted deleterious missense variant in SMAD2. We compare the phenotypes and genotypes in our patients with previously reported cases. Our data suggest two distinct phenotypes associated with pathogenic variants in SMAD2: complex CHD with or without laterality defects and other congenital anomalies, and a late-onset vascular phenotype characterized by arterial aneurysms with connective tissue abnormalities.


Asunto(s)
Aneurisma de la Aorta/genética , Cardiopatías Congénitas/genética , Mutación , Proteína Smad2/genética , Adulto , Niño , Preescolar , Exoma , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Persona de Mediana Edad , Fenotipo , Embarazo , Secuenciación del Exoma/métodos
16.
Am J Med Genet A ; 167A(2): 417-20, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25428120

RESUMEN

Menkes disease (MD; OMIM 309400) is an X-linked, neurodegenerative disorder resulting from deficient activity of copper-dependent enzymes and caused by alterations in the APT7A gene. In its classic form, it manifests in boys with hypotonia, seizures, skin and joint laxity, hair twisting (pili torti), cerebrovascular tortuosity, and bladder diverticulae. Menkes disease phenotypes have been reported in females with X; autosome translocations-disrupting ATP7A gene function- or ATP7A gene alterations. Those females manifest variable clinical findings, some of which, such as pili torti, seizure presence and/or age of onset, cerebrovascular tortuosity, degree of intellectual disability, and bladder divericulae are largely under-reported and under-studied. Here, we report on three females with Menkes disease and variant phenotypes, sharing characteristic features, one with classic Menkes disease and two with Menkes disease variants. We conclude that Menkes disease in females manifests with a variable spectrum of clinical findings but a few are uniformly present such as neurodevelopmental disability, hypotonia, and connective tissue findings. Others, such as seizures, cerebral atrophy, and cerebrovascular tortuosity may be present but are under-reported and under- studied. We propose that the diagnosis of Menkes disease or variants in females with suspicious clinical findings is an important one to consider as early treatment with parenteral copper may be considered. The effect of this treatment on the disease course in females with MD is unknown and remains to be seen.


Asunto(s)
Síndrome del Pelo Ensortijado/diagnóstico , Síndrome del Pelo Ensortijado/genética , Fenotipo , Adenosina Trifosfatasas/genética , Proteínas de Transporte de Catión/genética , Angiografía Cerebral , Niño , Preescolar , ATPasas Transportadoras de Cobre , Exones , Femenino , Heterocigoto , Humanos , Lactante , Angiografía por Resonancia Magnética , Mutación
17.
J Health Psychol ; : 13591053241235092, 2024 Feb 27.
Artículo en Inglés | MEDLINE | ID: mdl-38413845

RESUMEN

This study aimed to evaluate whether anxiety, depression, and infertility-specific distress differ among women with female infertility who are trying to conceive and/or seeking infertility treatment. Women with diagnosed female factor infertility in the past 2 years (N = 188) completed demographic questions, and measures of infertility-specific distress, anxiety, and depression. The majority of the sample were actively trying to conceive (78.7%, n = 148) and approximately one third (33.5%, n = 63) were undergoing fertility treatment. Anxiety and depression scores did not differ based on trying to conceive or treatment-seeking, although these subgroups reported higher levels of need for parenthood and rejection of a childfree lifestyle. High levels of mood and anxiety are experienced by women with female infertility. Although infertility-specific distress is experienced more so by women with anxiety and depression, a substantial proportion of those without mental health conditions had high levels of distress, underscoring the need for screening and treatment.

18.
Surg Obes Relat Dis ; 20(1): 91-97, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37863791

RESUMEN

BACKGROUND: There are limited data regarding the association of cannabis use with outcomes after bariatric surgery. As such, it is challenging to know how to counsel patients using cannabis. OBJECTIVES: The purpose of this study was to examine whether postsurgical cannabis use was associated with psychiatric symptoms and maladaptive eating among individuals up to 4 years after bariatric surgery. SETTING: Single health system. METHODS: All patients who underwent bariatric surgery over a 4-year period were invited to participate. Participants (N = 765) completed questionnaires online regarding postsurgical cannabis use, psychiatric symptoms, and maladaptive eating. RESULTS: Any cannabis use after bariatric surgery was associated with increased likelihood of having elevated symptoms of anxiety (odds ratio [OR] = 1.88, P = .003; 37.8% versus 24.4%), increased likelihood of grazing behaviors (OR = 1.77, P = .01; 71.2% versus 58.2%), and higher scores for eating in response to depression (P = .01; 12.13 versus 10.75). Weekly cannabis use was associated with loss of control eating (OR = 1.81, P = .04; 37.2% versus 24.7%), binge eating (OR = 2.16, P = .03; 20.0% versus 10.4%), and night eating behaviors (OR = 2.11, P = .01; 40.0% versus 24.0%). Cannabis use was not associated with depression (P > .05). CONCLUSIONS: Cannabis use after bariatric surgery was associated with anxiety symptoms and engaging in maladaptive eating behaviors. Frequent cannabis use (i.e., ≥1 per week) was associated with additional types of maladaptive eating. Clinicians involved in presurgical and postsurgical care may want to counsel patients currently using cannabis, especially those who are engaging in frequent use.


Asunto(s)
Cirugía Bariátrica , Trastorno por Atracón , Cannabis , Obesidad Mórbida , Humanos , Obesidad Mórbida/complicaciones , Cirugía Bariátrica/efectos adversos , Cirugía Bariátrica/psicología , Ansiedad , Trastorno por Atracón/complicaciones , Conducta Alimentaria/psicología , Depresión/epidemiología , Depresión/psicología
19.
Fam Syst Health ; 2023 Aug 24.
Artículo en Inglés | MEDLINE | ID: mdl-37616105

RESUMEN

INTRODUCTION: This study tested for differences based on relationship status at the time of surgery in baseline body mass index (BMI), weight loss outcomes (change in BMI [ΔBMI], percent total weight loss [%TWL], percent excess weight loss [%EWL]), and rates of successful weight loss (defined as ≥ 50%EWL) up to 4-year postbariatric surgery. METHOD: Data came from a secondary analysis of patients (N = 492) who were up to 4-year postsurgery and completed a presurgical psychological evaluation and postsurgical survey. RESULTS: Sixty-nine percent of participants were patients in committed relationships and 31% were single/divorced/widowed patients. Single patients had higher presurgical BMIs than those who were partnered (t = 2.28, p = .02). There were no differences between those who were partnered and singles regarding ΔBMI and %TWL, although singles had smaller %EWL (t = -2.08, p = .04), which became nonsignificant after controlling for covariates. Most participants had successful weight loss (76.8%); however, this was not related to romantic relationship status. DISCUSSION: The results suggest those who were partnered undergo surgery at better-starting weights than singles and maintain this advantage in the long term. Providers working with patients considering bariatric surgery could inquire about how their romantic and social relationships play a part in their decision-making process. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

20.
J Patient Cent Res Rev ; 10(2): 77-81, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37091113

RESUMEN

"Long COVID" - a term referring to COVID-19-associated symptoms and conditions (ie, sequelae) that remain or emerge after resolution of a SARS-CoV-2 infection - is a multifaceted condition about which little is known. As part of formalized patient-engaged research at a large Midwestern health system, patient stakeholders with long COVID (N=5) wrote stories based on their lived experience, as this was their preferred format for detailing their experience with the condition. These patient stakeholders reviewed one another's stories, identified relevant quotes, and provided opportunities for elaboration. Independently, a trained researcher extracted quotes from the stories, identified themes, and wove the quotes together to share the independent, yet similar, stories. Emergent themes were that of uncertainty about the symptomatology of long COVID and its effects on patients' mental health, physical functioning, family unit, self-identity, and future outlook. Further patient-engaged research on understanding the lived experience of long COVID may serve to advance knowledge and treatment. Health care providers caring for those with long COVID can benefit from listening and validating the stories of individuals suffering from this condition.

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