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1.
Cureus ; 16(6): e62073, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38993432

RESUMO

Atrial septal defects are a common congenital malformation that can lead to an elevated risk for stroke due to the bypass of the lungs by deep vein thrombosis, as well as the expected repercussions of pulmonary hypertension if left untreated. Surgical intervention is definitive; however, recent advancements in treatment options, such as percutaneous intervention, represent a safer and equally effective way to treat this congenital complication. While safer, percutaneous interventions can also lead to adverse events that may force patients to present to the emergency department. Here, we present a unique case of a patient with congenital atrial septal defect status post-percutaneous intervention who developed a new-onset second-degree AV block, Mobitz type 1 Wenckebach rhythm.

2.
Case Rep Womens Health ; 42: e00622, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38846066

RESUMO

Endometriosis presents a diagnostic conundrum due to its diverse clinical manifestations, ranging from asymptomatic to acute obstructive uropathy. This is a case of a 30-year-old woman with a history of endometriosis and rapidly progressing left flank pain culminating in rupture of the renal pelvis in her left kidney. Initial investigations revealed left-sided hydronephrosis without evidence of nephrolithiasis. Subsequent imaging showed active extravasation indicative of urinary obstruction attributable to endometriosis. Placement of a left nephrostomy tube alleviated her symptoms, and follow-up imaging revealed a distal ureteral stricture. A stent was subsequently placed, which resolved the obstruction and obviated the need for extensive surgical intervention. In this case, the patient's history of endometriosis prompted consideration of its role in urinary obstruction, despite the absence of typical symptoms, and underscores the importance of considering endometriosis as a potential cause of acute urinary obstruction, particularly in patients with a history of the disease. Physicians in the emergency department should maintain a high index of suspicion for endometriosis-related complications to facilitate timely intervention and prevent adverse outcomes. Awareness of the variable presentations of endometriosis is paramount for ensuring comprehensive patient care and optimal outcomes.

3.
Cureus ; 16(5): e60620, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38894771

RESUMO

Perforated peptic ulcers, though relatively rare, represent critical surgical emergencies with potentially life-threatening consequences. Their significance lies not only in their acute presentation but also in the diagnostic challenges they pose, particularly in patients with complex medical histories. Here we present a case of a 71-year-old female with a complex medical history, including insulin-dependent type 2 diabetes mellitus, hypertension, hyperlipidemia, hypothyroidism, dementia, diverticulitis, and chronic back pain, who initially were unresponsive and cyanotic. Despite challenges in diagnosis due to her medical complexity and opioid use, she was ultimately diagnosed with a perforated duodenal ulcer. Tragically, despite immediate surgical intervention, she succumbed to her illness, highlighting the complexities involved in managing perforated peptic ulcers, especially in patients with multiple chronic medical conditions. Peptic ulcer disease (PUD) can often remain asymptomatic, leading to delayed diagnosis and potentially life-threatening complications like perforation. Mortality rates associated with perforated peptic ulcers vary widely, ranging from 1.3% to 20%, with risk factors including nonsteroidal anti-inflammatory drug (NSAID) use, Helicobacter pylori infection, smoking, and corticosteroid use. Diagnosis necessitates a high index of suspicion, thorough clinical examination, and imaging modalities such as computed tomography (CT) scans with oral contrast. Treatment strategies range from nonoperative management with intravenous (IV) histamine H2-receptor blockers or proton pump inhibitors (PPIs) to surgical intervention, depending on the patient's hemodynamic stability. However, the case presented underscores the challenges in timely diagnosis and intervention, particularly in patients with complex medical histories, where symptoms may be masked or attributed to other comorbidities. Recent studies indicate a demographic shift toward older age and a higher prevalence among females, emphasizing the importance of increased awareness and vigilance among healthcare providers. Early recognition of symptoms, prompt investigation, and interdisciplinary collaboration are crucial in optimizing outcomes for patients presenting with perforated peptic ulcers, especially in the context of their underlying medical conditions.

4.
Psychiatry Res ; 326: 115313, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37336168

RESUMO

The effect of psychiatric comorbidity on pregnancy outcome among SARS-CoV-2 positive women with asymptomatic and mildly symptomatic infections remains largely unknown. We reviewed the electronic medical records of all pregnant women who received care at Mayo Health System and tested positive for SARS-CoV-2 (RT-PCR) from March 2020 through October 2021. Among 789 patients, 34.2% (n = 270) had psychiatric comorbidity. Of those with psychiatric comrobidity, 62.2% (n = 168) had depression prior to pregnancy, and 5.2% (n = 14) reported new-onset depression during pregnancy. Before pregnancy, 65.6% (n = 177) had anxiety, and 4.4% (n = 12) developed anxiety during pregnancy Thirteen percent of SARS-CoV-2 positive pregnant women (n = 108) received psychotropic medication during pregnancy. In addition, 6.7% (n = 18) and 10.7% (n = 29) of pregnant women with psychiatric comorbidity had documented nicotine, cannabis and/ or illicit substance use during and prior to pregnancy, respectively. We depicted a significantly higher risk for cesarean delivery [35.6% vs. 24.9%) in asymptomatic and mildly symptomatic SARS-CoV-2 positive pregnant women with psychiatric comorbidity. In conclusion, the prevalence rates of depression, anxiety, and prescribed antidepressant medications during pregnancy among asymptomatic and mildly symptomatic SARS-CoV-2 infected women were substantially higher than average, which negatively impacted pregnancy and neonatal outcomes.


Assuntos
COVID-19 , Transtornos Mentais , Complicações Infecciosas na Gravidez , Feminino , Humanos , Recém-Nascido , Gravidez , COVID-19/epidemiologia , Teste para COVID-19 , Transtornos Mentais/epidemiologia , Complicações Infecciosas na Gravidez/epidemiologia , Resultado da Gravidez/epidemiologia , Prevalência , SARS-CoV-2
5.
N Engl J Med ; 387(24): 2211-2219, 2022 12 15.
Artigo em Inglês | MEDLINE | ID: mdl-36516090

RESUMO

BACKGROUND: Dystrophic epidermolysis bullosa is a rare genetic blistering skin disease caused by mutations in COL7A1, which encodes type VII collagen (C7). Beremagene geperpavec (B-VEC) is a topical investigational herpes simplex virus type 1 (HSV-1)-based gene therapy designed to restore C7 protein by delivering COL7A1. METHODS: We conducted a phase 3, double-blind, intrapatient randomized, placebo-controlled trial involving patients 6 months of age or older with genetically confirmed dystrophic epidermolysis bullosa. For each patient, a primary wound pair was selected, with the wounds matched according to size, region, and appearance. The wounds within each pair were randomly assigned in a 1:1 ratio to receive weekly application of either B-VEC or placebo for 26 weeks. The primary end point was complete wound healing of treated as compared with untreated wounds at 6 months. Secondary end points included complete wound healing at 3 months and the change from baseline to weeks 22, 24, and 26 in pain severity during changes in wound dressing, assessed with the use of a visual analogue scale (scores range from 0 to 10, with higher scores indicating greater pain). RESULTS: Primary wound pairs were exposed to B-VEC and placebo in 31 patients. At 6 months, complete wound healing occurred in 67% of the wounds exposed to B-VEC as compared with 22% of those exposed to placebo (difference, 46 percentage points; 95% confidence interval [CI], 24 to 68; P = 0.002). Complete wound healing at 3 months occurred in 71% of the wounds exposed to B-VEC as compared with 20% of those exposed to placebo (difference, 51 percentage points; 95% CI, 29 to 73; P<0.001). The mean change from baseline to week 22 in pain severity during wound-dressing changes was -0.88 with B-VEC and -0.71 with placebo (adjusted least-squares mean difference, -0.61; 95% CI, -1.10 to -0.13); similar mean changes were observed at weeks 24 and 26. Adverse events with B-VEC and placebo included pruritus and chills. CONCLUSIONS: Complete wound healing at 3 and 6 months in patients with dystrophic epidermolysis bullosa was more likely with topical administration of B-VEC than with placebo. Pruritus and mild systemic side effects were observed in patients treated with B-VEC. Longer and larger trials are warranted to determine the durability and side effects of B-VEC for this disease. (Funded by Krystal Biotech; GEM-3 ClinicalTrials.gov number, NCT04491604.).


Assuntos
Colágeno Tipo VII , Epidermólise Bolhosa Distrófica , Terapia Genética , Humanos , Administração Tópica , Colágeno Tipo VII/administração & dosagem , Colágeno Tipo VII/efeitos adversos , Colágeno Tipo VII/genética , Colágeno Tipo VII/metabolismo , Epidermólise Bolhosa Distrófica/tratamento farmacológico , Epidermólise Bolhosa Distrófica/genética , Epidermólise Bolhosa Distrófica/metabolismo , Prurido/induzido quimicamente , Cicatrização/efeitos dos fármacos , Cicatrização/genética , Terapia Genética/efeitos adversos , Terapia Genética/métodos
6.
Nat Commun ; 13(1): 711, 2022 02 07.
Artigo em Inglês | MEDLINE | ID: mdl-35132083

RESUMO

In many species including humans, aging reduces female fertility. Intriguingly, some animals preserve fertility longer under specific environmental conditions. For example, at low temperature and short day-length, Drosophila melanogaster enters a state called adult reproductive diapause. As in other stressful conditions, ovarian development arrests at the yolk uptake checkpoint; however, mechanisms underlying fertility preservation and post-diapause recovery are largely unknown. Here, we report that diapause causes more complete arrest than other stresses yet preserves greater recovery potential. During dormancy, germline stem cells (GSCs) incur DNA damage, activate p53 and Chk2, and divide less. Despite reduced niche signaling, germline precursor cells do not differentiate. GSCs adopt an atypical, suspended state connected to their daughters. Post-diapause recovery of niche signaling and resumption of division contribute to restoring GSCs. Mimicking one feature of quiescence, reduced juvenile hormone production, enhanced GSC longevity in non-diapausing flies. Thus, diapause mechanisms provide approaches to GSC longevity enhancement.


Assuntos
Diapausa de Inseto/fisiologia , Células Germinativas Embrionárias/fisiologia , Animais , Diferenciação Celular , Senescência Celular , Quinase do Ponto de Checagem 2/metabolismo , Dano ao DNA , Proteínas de Drosophila/metabolismo , Drosophila melanogaster , Células Germinativas Embrionárias/citologia , Feminino , Fertilidade , Hormônios Juvenis/metabolismo , Ovário/fisiologia , Espécies Reativas de Oxigênio/metabolismo , Transdução de Sinais , Nicho de Células-Tronco , Proteína Supressora de Tumor p53/metabolismo
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