Reports (MDPI)最新文献

Inferior vena cava (IVC) disruption with continuation of the azygos is a rare congenital vascular abnormality that can be detected prenatally via high-resolution ultrasound. We present a case of isolated discontinuation of IVC, diagnosed during a routine abnormal scan of the second trimester, confirmed by fetal echocardiography, with an uneventful neonatal outcome. In accordance with the literature, we discuss the diagnostic approach, clinical significance and long-term implications of this vascular variant. We want to emphasize the importance of recognizing this anomaly and differentiating isolated cases from those associated with other congenital malformations.

Background and Clinical Significance: Cryotherapy, particularly with the CryoBalloon Focal Ablation System (CbFAS), has emerged as a minimally invasive modality delivering targeted ablation through liquid nitrous oxide. While its role in treating Barrett's esophagus and dysplasia is well established, its application in early esophageal adenocarcinoma (EAC) salvage treatment remains limited. Case Presentation: We report the case of an 84-year-old male with Barrett's esophagus and multiple comorbidities who underwent endoscopic submucosal dissection (ESD) for a 3 cm esophageal adenocarcinoma (pT1bN0M0). Histology revealed deep submucosal invasion, perivascular infiltration, and positive margins, rendering the resection non-curative. Given surgical ineligibility, the patient underwent cryoballoon ablation six months later for recurrent intramucosal carcinoma proximal to the ESD scar. At three months, surveillance endoscopy showed residual Barrett's esophagus with low-grade dysplasia. Conclusions: This case highlights the feasibility and safety of cryoballoon ablation as salvage therapy after non-curative ESD in inoperable EAC. To our knowledge, this represents the first report of salvage CbFAS in T1bN0M0 EAC, underscoring the need for further studies to define its role in the multimodal management of EAC.

Rapid methadone metabolism in patients with opioid use disorder could complicate methadone treatment. Toxicology screenings to monitor methadone levels may show negative for methadone, even with regular adherence to a regimen. A patient receiving treatment for opioid use disorder tested negative for methadone in 11 out of 22 toxicology screenings (50.0%). We hypothesized that the patient was a rapid methadone metabolizer. After tapering doses to a maintenance level and using supervised urine collection, the patient was negative for methadone in seven out of seven tests (100.0%), but positive for cocaine in five out of seven tests (71.4%) near the end of the maintenance period. Chronic cocaine use and genetic factors, particularly CYP2B6 polymorphisms, have been found to cause rapid methadone metabolism. Clinicians should be vigilant for unusual metabolic reactions and modify dose and monitoring schedules accordingly. More investigation into the physiological and genetic aspects of methadone metabolism is needed.

Background and Clinical Significance: Atrial fibrillation is a rare disorder in the pediatric population in the absence of underlying heart disease. A specific arrhythmia, known as lone pediatric atrial fibrillation, can occur without identifiable structural heart abnormalities. Case Presentation: We report a case of a 12-year-old obese child with symptomatic hypertension and atrial fibrillation diagnosed through an electrocardiogram (ECG). Conclusions: The patient was rapidly managed with intravenous metoprolol, and he subsequently started cardiologic treatment and clinical follow-up. This case underlines the possibility of performing routine ECGs in the follow-up of obese children.

Orthopedic and lower limb fracture surgeries are among the most frequent emergency procedures and are commonly performed under general anesthesia (GA). Background and clinical significance: Epidemiologically, postoperative coma after GA is rare (0.005-0.08%), but delayed awakening (2-4%) and postoperative delirium or postoperative cognitive dysfunction (POCD) (15-40%) remain significant. These neurological complications increase markedly in vulnerable brain patients with psychiatric, cerebrovascular, or neurodegenerative disorders.

Methods: This mechanistic narrative review synthesizes evidence from clinical and experimental studies (1990-2025) comparing the effects of general versus Regional (RA)/local (LA) or spinal anesthesia in vulnerable neuropsychiatric populations "with pre-existing brain illness" undergoing orthopedic surgery. Domains analyzed include neuropsychiatric medications effects and interactions with the GA process and with general anesthetic agents, alongside alterations in neurotransmitter modulation, cerebrovascular autoregulation, mitochondrial dysfunction, oxidative stress, redox imbalance, and neuroinflammatory activation. The review summarizes evidence on how the choice of anesthesia type influences postoperative brain outcomes in patients with known neurological conditions.

Results: From previous studies, patients with psychiatric and/or chronic brain illness have a 3-5-fold increased risk of delayed emergence and up to 60% incidence of postoperative delirium. Pathophysiological mechanisms involve GABAergic overinhibition, impaired perfusion, mitochondrial energy failure, and inflammatory amplification. Regional/local and spinal anesthesia may offer physiological advantages, preserve cerebral perfusion, and lower neurological complication rates.

Conclusions: General anesthesia may exacerbate pre-existing brain vulnerability, converting reversible neural suppression into irreversible dysfunction. Therefore, whenever possible, regional/local or spinal anesthesia with or without sedation should be prioritized in those neurologically vulnerable patients to reduce the length of hospital stay (LOS) and to lower postoperative neurological complications and risks in psychiatric and neurologically unstable patients.

Background and Clinical Significance: Wilson disease is a rare autosomal recessive disorder of copper metabolism that can initially present with psychiatric symptoms, leading to delays in accurate diagnosis and treatment. Adult-onset cases may be misdiagnosed as primary psychiatric disorders, particularly when hepatic signs are subtle or absent. Early recognition is critical to prevent irreversible neurological and hepatic damage. Case Presentation: A 48-year-old Hispanic male developed persecutory delusions, cognitive decline, and ultimately catatonia over a three-year period. He was initially diagnosed with a primary psychiatric disorder and treated with antipsychotics, which caused severe extrapyramidal side effects. Further evaluation revealed markedly abnormal liver function tests, low serum ceruloplasmin, and elevated 24 h urinary copper excretion. Brain MRI showed characteristic findings of Wilson disease, and liver biopsy confirmed the diagnosis. The patient was started on trientine and zinc sulfate, but progressive hepatic dysfunction necessitated liver transplantation. Following a successful transplant, the patient experienced significant neurological and psychiatric recovery. Conclusions: This case underscores the importance of considering Wilson disease in patients presenting with atypical or treatment-resistant psychiatric symptoms, particularly when accompanied by abnormal liver function or intolerance to antipsychotics. Timely, multidisciplinary evaluation is essential to avoid misdiagnosis and initiate appropriate therapy. Early intervention can significantly improve both psychiatric and medical outcomes in Wilson disease.

Background and Clinical Significance: Uveal melanoma (UM) is an ocular malignancy with high mortality for which supportive therapies to mitigate disease and treatment-related side effects are lacking. Exercise therapy is one of the most versatile symptom-management strategies in oncology. We investigated the effects of a 4-month combined exercise intervention to restore and stabilize disease and treatment-related side effects. Case Presentation: A moderately active 61-year-old woman, diagnosed with metastatic UM in the right eye and treated with Cyberknife radiation, presented with diminished visual motor capacity due to disease-related loss of stereopsis and visual field reduction, without systemic comorbidities. The main outcome measures were visuomotor and functional tests (VFT) and cardio-pulmonary exercise testing (CEPT). All functional and most visuomotor tests demonstrated meaningful improvements between baseline and post-intervention by 7-128% and 8-24%, respectively. The CPET-derived parameters (% for VE˙, VO˙2, PPO, CEPT duration) showed improvements between 10 and 30% throughout the 4-month period. Conclusions: Data from this case report indicate that the 4-month exercise intervention yielded a consistent pattern of improvement in most VFT dimensions and cardio-pulmonary capacity. Interestingly, our data imply that post-radiation declines in visuomotor capacity recovered and expanded with enhanced manual dexterity. Future investigations need to extend our findings to a larger cohort of UM patients.

Background and Clinical Significance: Ganglioneuromatosis is a benign proliferation of mature ganglion cells, Schwann cells, and nerve fibers within the enteric or autonomic nervous system. According to the WHO classification, it encompasses a spectrum range from solitary ganglioneuroma to ganglioneuromatous polyposis and diffuse mural involvement. It is most commonly encountered in the colon and small bowel and is strongly associated with hereditary syndromes such as neurofibromatosis type 1 (NF1), multiple endocrine neoplasia type 2B (MEN2B), and Cowden syndrome. The involvement of the gallbladder is exceptional and only isolated cases have been documented. Case Presentation: We present the case of 64-year-old man admitted with longstanding right hypochondrium and epigastric pain, accompanied by intermittent nausea and occasional bilious vomiting. A cholecystectomy was performed and the histology result showed hypertrophic nerve fibers with interspersed mature ganglion cells within the fibromuscular layer. Immunohistochemistry supported neural origin and glial differentiations, consistent with ganglioneuromatosis of the gallbladder. The patient has no clinical evidence of NF1, MEN2B, or Cowden syndrome, adding a non-syndromic adult case to the very limited literature on this entity. Conclusions: This is a rare, non-syndromic adult case of gallbladder ganglioneuromatosis, contributing to the very limited literature on this entity.

Background and Clinical Significance: Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by acute or subacute bilateral central vision loss, typically in young males. Multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) are immune-mediated demyelinating diseases that may present with optic neuritis and myelitis. Although distinct in etiology, recent evidence suggests that mitochondrial dysfunction and neuroinflammation can overlap, giving rise to combined phenotypes such as LHON-MS (also known as Harding's disease). Case Presentation: We report a 42-year-old man who initially presented in 2018 with right-eye pain and severe visual loss diagnosed as idiopathic optic neuritis. Despite corticosteroid and plasma-exchange therapy, visual recovery was poor, and he was maintained on azathioprine. One year later, he developed visual flashes and left-eye visual loss with bilateral optic nerve thinning on OCT. Genetic testing revealed a pathogenic MT-ND4 (m.11778G>A) mutation, confirming LHON. In 2021, he presented with ascending lower-limb numbness and bladder urgency. MRI demonstrated a central thoracic cord lesion at T11, consistent with acute transverse myelitis, while serum AQP4 and MOG antibodies were negative. CSF showed five unique oligoclonal bands. The diagnosis of LHON-MS overlap was established, and he was treated with corticosteroids followed by rituximab with clinical stability thereafter. Conclusions: This case highlights the diagnostic challenges of LHON with atypical optic neuritis initially followed by the development of demyelinating disease. Red flags such as poor visual recovery, bilateral or sequential optic neuropathy, and steroid-refractory episodes should prompt genetic testing to rule out LHON. Recognition of the mitochondrial-immune overlap is essential for accurate diagnosis, counseling, and an appropriate therapeutic strategy.

Background and Clinical Significance: Chronic Obstructive Pulmonary Disease (COPD) is a progressive respiratory disorder characterized by airflow limitation and a significant impact on functional capacity, emotional well-being, and quality of life. Pulmonary rehabilitation improves functional capacity and psychosocial outcomes in individuals with COPD, but evidence on its implementation in primary care is limited. This case report describes the functional and emotional outcomes of a structured pulmonary rehabilitation program delivered in a primary care setting for a patient with moderate COPD, indicating potential feasibility and clinical relevance, while recognizing that evidence from a single case cannot be generalized; Case Presentation: A 73-year-old man, an ex-smoker for 10 years, with a history of moderate COPD (GOLD 2/B), controlled hypertension, and recurrent respiratory infections, presented after discontinuation of regular exercise following a previous hospital-based rehabilitation program completed 26 months earlier. The patient reported dyspnea on exertion and functional decline. He completed a 16-week pulmonary rehabilitation program delivered in a primary care setting. The intervention included weekly supervised sessions (breathing exercises, aerobic and resistance training, and education) and twice-weekly home exercises. Outcomes were assessed pre- and post-intervention. Dyspnea improved (mMRC 2 → 1), 6-Minute Walk Test distance increased (303 → 380 m), lower-limb strength improved (10× Sit-to-Stand: 10 → 18 repetitions), perceived exertion decreased (Borg 7 → 4), daily activity limitations were reduced (LCADL 28 → 20), and anxiety decreased (HADS 10 → 6). No adverse events occurred, and adherence was 100%. Conclusions: This single case shows that a structured pulmonary rehabilitation program delivered in primary care was feasible and associated with meaningful improvements in functional performance and emotional well-being in a patient with moderate COPD.