HCA healthcare journal of medicine最新文献

Background: While the reported prevalence of polyneuropathies is 1%-3%, the incidence of hereditary transthyretin amyloidosis in the United States is estimated to be 1 in 100 000 individuals. Polyneuropathies are known to be difficult to treat and lead to significant morbidity. The aim of pain management is symptomatic treatment, with varying approaches to progression prevention being based on the causative pathophysiology.We assessed the prevalence of hereditary amyloid transthyretin variant (ATTRv) amyloidosis, a progressive autosomal dominant multisystem disease caused by the abnormal formation and extracellular deposition of transthyretin protein fibrils in various tissues, in an idiopathic polyneuropathy population by using genetic analysis.

Methods: Individuals aged 18 and over with an established diagnosis of polyneuropathy, via electromyography testing that was deemed to be idiopathic, at a large, urban neurology clinic consented to an institutional review board-approved protocol for genetic testing. No further exclusions were made regarding age of onset, family history, axonal neuropathy subtype, comorbidities suggestive of ATTRv amyloidosis, etc. Clinical genetic testing was performed on 134 participants via an 81-gene panel associated with inherited neuromuscular disorders or targeted TTR gene sequencing with deletion and duplication analysis.

Results: Within our cohort, 38.06% had at least one reportable finding in one of 38 distinct genes, for a total of 76 reported alterations. Four individuals were identified as having a single pathogenic alteration in an autosomal recessive gene, consistent with carrier status for the 4 following disorders: congenital insensitivity to pain with anhidrosis (NTRK1), Charcot-Marie-Tooth disease type IIP (LRSAM1), Brown-Vialetto-Van Laere syndrome type II (SLC52A2), hereditary sensory and autonomic neuropathy type III (IKBKAP). One individual was found to have a variant of uncertain significance (VUS) (p.G103D) in the TTR gene.

Conclusion: Precision medicine on the molecular level with genetic testing in the identification of specific neuropathies may provide clinicians with more detailed information for developing a more direct therapeutic and treatment modality for better-targeted management. Further investigation is needed to expand on the knowledge and understanding of the clinical relevance surrounding the alterations found in the genetic evaluation of idiopathic neuropathy.

Introduction: A diaphragmatic hernia (DH) is a defect within a part of the diaphragm that allows intra-abdominal contents to enter the thoracic cavity. Diaphragmatic hernias can be congenital or acquired later in life. The most common congenital DH is the Bochdalek hernia (posterolateral hernia), but the most commonly acquired DH is due to traumatic injury. These hernias are rare in adults and are typically diagnosed incidentally. Surgical repair is the standard of care; however, data regarding the surgical approach is scarce. We report a case of a rare right posterolateral DH in an adult female patient who presented with acute abdominal pain.

Case presentation: A 69-year-old female presented with recurrent epigastric pain that had acutely worsened, nausea, vomiting, and food intolerance. A computed tomography (CT) scan demonstrated a right posterolateral DH containing the hepatic flexure of the colon. The patient was taken urgently to surgery due to concern for strangulation. Reduction of the hernia was attempted laparoscopically but was converted to an open procedure with a subcostal incision due to poor visualization. This approach revealed adequate exposure of the defect and subsequent reduction of the herniated abdominal contents. The defect was easily closed without tension or the use of mesh. The patient was discharged on postoperative day 3.

Conclusion: Chronic DH can have severe life-threatening sequelae when left untreated. This case demonstrates the importance of thorough history-taking and raises awareness of missed diaphragmatic injuries in trauma situations. Since patients who present with a symptomatic DH often need urgent repair, it is important for surgeons working in the acute care setting to understand the surgical options available and when mesh placement may benefit the situation. Our case outlines a successful primary defect repair, without mesh, of a right-sided DH in which a minimally invasive technique was attempted but converted to laparotomy for patient safety.

Background: Suicide is a major problem in the United States and in the state of Idaho. Prevention data are lacking for suicide primarily because information about those who completed suicide is not attainable. There are no published data from surveying the family members of the deceased. Our objective was to learn more about those who died by suicide by surveying family members or close contacts of the deceased.

Methods: We conducted a descriptive study using a 77-question survey to obtain information about those who died by suicide, with the survey being completed by their loved ones. Survey questions addressed the deceased's demographics, employment, mental health, substance use, access to lethal means, cultural and religious beliefs, relationships, etc. The survey was distributed in Southeast Idaho for 3 months.

Results: Results showed that those who died by suicide in Southeast Idaho were predominantly: White (95%), male (77%), had no previous hospitalization for mental illness (76%), had a firearm in their home (66%), their religious beliefs matched those in their family and community (73%), they did not alert others or seek medical help (79%), had attempted suicide before (55%), had high stress in their most recent relationship (55%), or had current legal issues (54%). Firearms were the most common means of death (51%).

Conclusion: In Southeast Idaho, our data suggested those at the highest risk of suicide were White men who previously attempted suicide, were experiencing a relationship change, had legal trouble, and had quick access to a firearm in their home. Suicide prevention efforts should be focused on these risk factors.

Description This photograph was chosen as a visual representation of the poem "Theory of a Well Mind" to capture the essence of the poem's exploration of the human psyche and the journey toward mental wellness. The corridor, with its repeating arches and vanishing point, symbolizes the cyclical nature of thoughts, emotions, and actions that the poem delves into. Just as the corridor seems to stretch into infinity, the poem reflects on the seemingly endless and challenging process of personal growth and self-discovery. The contrast between light and shadow within the image mirrors the poem's themes of introspection, uncertainty, and the pursuit of clarity amidst the complexities of the mind. The light that filters through the arches and windows represents moments of insight and hope, while the shadowed areas evoke the difficulties and unknowns that one encounters on the path to wellness.

Introduction: Idiopathic granulomatous mastitis (IGM), also known as nonpuerperal mastitis or granulomatous lobular mastitis, is a rare, benign, chronic inflammatory breast disease first characterized in 1972. IGM is characterized by sterile noncaseating lobulocentric granulomatous inflammation, usually affecting parous premenopausal women with a history of lactation.

Case presentation: We present a 38-year-old African American woman presenting to our continuity clinic complaining of a painful right breast mass discovered during a self-breast examination. An initial right breast ultrasound demonstrated an area of concern with asymmetry, architectural distortion, and a questionable mass correlating to a 5.1 cm hypoechoic mass at the 12:30 position. Additionally, a mammogram showed a suspicious, indeterminate, large hypoechoic region or mass with angular margins measuring 5.1 x 1.7 x 3.7 cm with slight internal vascularity. An ultrasound-guided stereotactic biopsy revealed extensive mixed inflammatory and focal granulomatous lobular mastitis.

Conclusion: Idiopathic granulomatous mastitis is a rare disorder that often mimics breast malignancies and infectious processes. This case highlights the need for further research on IGM pathogenesis to prevent unnecessary life-altering therapeutic procedures and bring awareness to the medical community.

Introduction: Intrinsic sphincter deficiency (ISD) is associated with a patient history of urethral injury or childbirth. Suburethral sling placement for ISD has been found to be beneficial in patients with this diagnosis. ISD in the pediatric population is rare and surgical management may prove difficult. ISD requires intensive counseling on available treatment options for this unique population.

Case presentation: This report is on the use of the single-incision mini-sling for complete ISD in an adolescent patient. The patient was a 15-year-old nulligravid female who was found to have idiopathic complete intrinsic deficiency based on a multi-channel urodynamic study. Despite conservative management, the patient opted for a surgical option instead. The patient underwent a single-incision mini-sling placement. At 3- and 6-month postoperative follow-up visits, the patient reported a subjective cure of stress urinary incontinence.

Conclusion: Single-incision mini-sling is a minimally invasive surgical technique that may be a feasible treatment option to reduce urinary incontinence in pediatric patients with a diagnosis of ISD.

Description This article summarizes the development and implementation of a mentoring program designed to support and educate physicians new to practice in a large, outpatient hospital system. The program addresses organizational, operational, and financial elements of medical practice. Topics include efficiency and time management, coding education, leadership, and burnout. These topics are often not directly addressed in medical education, yet are crucial to physician well-being. The article describes the program structure, initial feedback, and recommendations for program replication and expansion.

Description Spinal epidural abscess (SEA), a critical surgical emergency, demands prompt recognition and intervention to prevent severe complications and fatalities. The incidence of SEA is notably increasing, particularly among individuals with diabetes, intravenous drug use, or a history of invasive spinal procedures. Although SEA can manifest through various clinical symptoms, the presence of its classic triad-back pain, fever, and neurological deficits-is noteworthy despite its occurrence in only 10% to 13% of cases. Identifying this triad is vital due to its high specificity for SEA, which is essential to guiding swift diagnostic and therapeutic actions in a condition where early intervention is critical. Magnetic resonance imaging is pivotal in diagnosing SEA, offering unmatched sensitivity and specificity compared to other imaging techniques. Immediate empirical antibiotic therapy and timely neurosurgical consultation, when required, form the foundation of SEA treatment. The prognosis significantly depends on the patient's initial neurological status, underlying health conditions, and the timeliness of their presentation, diagnosis, and treatment initiation. Given the complexity of SEA and the high risk of diagnostic delays, managing this condition involves substantial medicolegal considerations. Enhanced comprehension of SEA is imperative for improving patient outcomes and reducing health care resource burdens. Prompt and accurate diagnosis and appropriate interventions are essential for effectively managing this urgent condition.

Description In psychiatry residency, we have a didactic within our curriculum that focuses on psychotherapy. This subject culminates in our third year when our program's psychotherapy supervisor asks each of us to create our own personal theory. It allowed us to explore and apply what we had learned up until this point and formulate our own understanding of why people are the way that they are, how people change, and how to facilitate that growth through our theory. Each of us chose to represent our theory in unique ways, reflective of our personalities. One tech-savvy resident used AI and images. Another used a relevant case involving themes of feminism and cultural competency. I represented my theory through poetry. This theory has elements of emotion-focused therapy, attachment theory, and cognitive behavior therapy. Engaging in this style of learning left me with fulfillment and a newfound satisfaction for what I had learned.

Introduction: Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is an autoinflammatory disease whose acronymic name stands for the symptoms commonly seen in the disease. These symptoms typically occur simultaneously, in different combinations, in patients during exacerbations of the disease. SAPHO syndrome is a rare disease, most frequently seen in patients aged 30 to 50. It is estimated to be found in 1 in 10 000 persons in White populations, with an even lower incidence seen in non-White populations.

Case presentation: A post-menopausal woman with a medical history of SAPHO presented to the emergency department with left foot pain and chest pain with palpitation. She had chronic pustular rashes, located on the bilateral soles of the feet, bilateral palms, neck, and abdomen, which she stated appeared hours after the initial presentation of her pain. Chest X-ray readings showed osteitis and sclerosis of the sternocostoclavicular joint and first rib, a radiological finding of SAPHO syndrome. The patient was successfully treated with nonsteroidal anti-inflammatory drugs for pain relief and IV corticosteroids for the rheumatoid-like inflammatory aspect of SAPHO.

Conclusion: While SAPHO syndrome is a rare disease, it is important to be aware of its manifestations and symptoms, such as the patient's rash, foot and chest pain, in addition to the dermatological symptoms appearing simultaneously. An early diagnosis can provide patients with accurate and appropriate treatment.