搜索结果：Oxford medical case reports

Cannabinoid hyperemesis syndrome (CHS) is a debilitating disorder of chronic, heavy cannabis users characterized by cyclic severe nausea, vomiting, and abdominal pain that is classically relieved by hot baths. Standard antiemetics often fail, and dysregulation of endocannabinoid signaling with involvement of heat-sensitive TRPV1 channels has been proposed. Topical capsaicin - a TRPV1 agonist - has been reported in small series and case reports to reproduce the hot-water effect and rapidly relieve symptoms. A 28-year-old man with daily high-potency cannabis use (∼2 g/day for 7 years) presented to the emergency department with 48 hours of intractable non-bilious vomiting (∼20 episodes/day), severe periumbilical cramping (8/10), and a history of similar episodic flares relieved by prolonged hot showers. Initial ED therapy (IV fluids, ondansetron, metoclopramide, pantoprazole) produced minimal benefit; labs showed hypokalemic, hypochloremic metabolic alkalosis and pre-renal azotemia, with otherwise unremarkable imaging and enzymes. After informed consent, ∼2 g of 0.1% topical capsaicin cream was applied across the abdomen. The patient experienced an acute burning sensation for ∼15-30 minutes; retching ceased within 10 minutes, pain fell to 2/10 by 30 minutes and resolved by 90 minutes, and he tolerated oral intake. Vital signs normalized and electrolytes/renal function returned to baseline at 48-hour follow-up. He was discharged with counseling on cannabis cessation and a capsaicin tube for prodromal use. Topical capsaicin produced rapid, durable symptom resolution in this case of refractory CHS with only transient local discomfort. The effect is plausibly mediated by TRPV1 activation followed by peripheral desensitization, recapitulating the therapeutic hot-water response. Given consistent positive signals from case reports, series, and small pilot data, topical capsaicin is a low-risk, accessible adjunct for refractory CHS, but larger controlled studies are needed to define optimal dosing, duration, and long-term outcomes.

High-energy open fractures are frequently complicated by osteomyelitis and femoral nonunion. Treatment of these conditions poses a significant challenge for surgeons and often results in limb amputation. A case of an infected nonunion of open distal femoral fracture, complicated by osteomyelitis and septic arthritis of the knee caused by a multidrug-resistant strain of Acinetobacter baumannii and methicillin-resistant Staphylococcus epidermidis with the initial Oxford knee score (OKS) of 7/48 is presented. The report demonstrates the use of a two-stage arthroplasty technique with an articulating spacer during the first stage for a metaphyseal-diaphyseal femoral defect of 8 cm, preserving the weight-bearing capacity and function of the knee joint (OKS of 18); whereas at the second stage, the segmental defect was repaired with an allograft and a tantalum cone (OKS of 32). This case serves as a valuable reference for medical professionals dealing with chronic osteomyelitis involving the knee joint and arthroplasty. Further research on this technique is necessary to improve clinical outcomes.

Electronic cigarettes (e-cigarettes) have been increasingly promoted as safer alternatives to conventional smoking and as smoking cessation tools. However, emerging evidence has linked e-cigarette use to serious pulmonary complications, including e-cigarette or vaping product associated lung injury (EVALI). Severe cases may progress to acute respiratory distress syndrome (ARDS), requiring advanced respiratory support. We report the case of a previously healthy 25-year-old female who developed severe vaping-associated ARDS refractory to conventional mechanical ventilation and was successfully managed with veno-venous extracorporeal membrane oxygenation (VV-ECMO). This case highlights the potential severity of vaping-related lung injury and emphasizes the role of ECMO as a life-saving intervention in selected patients.

Spontaneous pneumothorax in pregnancy is a very uncommon condition, with fewer than 100 cases described in the English literature. This case report describes a pregnant woman who experienced two episodes of primary spontaneous pneumothorax during pregnancy. A 31-year-old, Caucasian pregnant woman (P2 G3 A1, gestational age 17+0 weeks), conceived naturally, body mass index 28, a former smoker, arrived at the hospital with dyspnea and chest pain. Pneumothorax was detected and managed with a chest tube. However, three days after discharge, pneumothorax reoccurred. Due to a persistent air leak, video-assisted thoracoscopic surgery was performed. Histological examination revealed enlarged airspaces without any signs of specific lung pathology. Postoperative recovery was uneventful, and the patient delivered a healthy newborn without complications. This case highlights the importance of multidisciplinary, individualized diagnostic and treatment options in pregnant patients with primary spontaneous pneumothorax to prevent misdiagnosis and ensure optimal outcomes for both mother and fetus.

We report a case of prosthetic valve infective endocarditis caused by Pasteurella dagmatis in a 79-year-old man with a mechanical aortic valve and a known ascending aortic aneurysm. He presented with fever and malaise, and blood cultures grew P. dagmatis. Transoesophageal echocardiography demonstrated a prosthetic valve vegetation with a suspected aortic root abscess, while computed tomography confirmed a large ascending aortic aneurysm. The clinical course was complicated by conduction disturbances requiring permanent pacemaker implantation. The patient underwent urgent surgical intervention and made a good recovery, being discharged in a stable condition, but with persistent atrial fibrillation. This case highlights the rarity of P. dagmatis as a cause of IE and its potential for invasive complications. Although histopathological confirmation was not obtained, the infection may have contributed to progression of the pre-existing aneurysm, raising the possibility of a superimposed mycotic aneurysm.

Premature ovarian insufficiency (POI) with short stature and mild intellectual disability can have diverse genetic etiologies. We aimed to decipher the genetic basis of this complex phenotype in a 26-year-old female with a karyotype lacking aneuploidy. This is a case study integrated with comprehensive genetic analyses. After standard techniques (karyotyping, CNV-seq, WES) failed to yield a diagnosis, Oxford Nanopore long-read sequencing was employed to map chromosomal breakpoints at single-base resolution. X-inactivation (XCI) analysis was also performed. Long-read sequencing refined the karyotype to 46,X,t(X; 3;8) (q25; q21p21; p21),t(17; 22)(q21.2; q13) and identified direct disruptions of TAFA5, LARS2, and MYLK. XCI analysis demonstrated highly skewed XCI (5.35%), indicating preferential inactivation of the structurally normal X chromosome. We propose that highly skewed XCI is the primary driver of the patient's POI and short stature, while the three disrupted genes may serve as modifying factors. This study underscores the value of long-read sequencing in resolving CCRs and the importance of XCI analysis in female patients with X-chromosome rearrangements.

We report the case of a 71-year-old woman with giant cell myocarditis presenting as acute heart failure and cardiogenic shock (LVEF 15%). She required mechanical ventilation, IMPELLA CP (Abiomed, Danvers, MA), veno-arterial extracorporeal (VA-ECMO), and continuous renal replacement therapy. Endomyocardial biopsy confirmed giant cell myocarditis, and treatment with corticosteroids, mycophenolate mofetil, and tacrolimus was initiated. Following multi-modal support and immunosuppressive therapy, left ventricular function recovered to 54%, allowing withdrawal of mechanical circulatory support and hemodialysis. However, the patient ultimately died on the 111th day due to the long treatment of cytomegalovirus infection and septic shock from catheter-related blood stream infection. Optimal immunosuppressive regimens remain undefined, so this case highlights successful recovery of cardiac function with intensive multi-modal management.

We report the death of a one-month-old infant who developed sudden neurological collapse in a public park and was later found to have bilateral subdural hematomas, extensive retinal hemorrhages, hypoxic-ischemic encephalopathy, and cerebral venous sinus thrombosis. No external or internal traumatic injuries were identified at autopsy, and the death was certified as natural. The public park setting was important because the same intracranial and ocular findings, if arising in a private setting without witnesses, might have prompted suspicion of abusive head trauma. This case illustrates the forensic importance of considering medical causes, including cerebral venous sinus thrombosis, in infants with subdural and retinal hemorrhages, and of avoiding diagnostic conclusions based primarily on the absence of an adequate caregiver explanation.

C19ORF44 has recently been identified as a gene associated with autosomal recessive inherited retinal disease (IRD). The function of the gene remains poorly understood, and a previously reported case with identical primary genotype demonstrated a Stargardt-like macular dystrophy phenotype. We describe a 65-year-old Chinese female with long-standing nyctalopia and progressive visual field loss. Multimodal retinal imaging demonstrated a peripheral-predominant retinitis pigmentosa phenotype with relative macular sparing, distinct from the previously reported Stargardt-like macular dystrophy associated with the same genotype. Genetic testing identified compound heterozygous stop-gain and frameshift deletion variants in C19ORF44, both predicted to result in loss of function. This case demonstrates that identical genotypes (biallelic loss-of-function variants in C19ORF44) can result in markedly different retinal phenotypes, highlighting substantial genotype-phenotype variability in this newly described IRD.

Hemorrhagic cystitis (HC) in children is most associated with infection or treatment-related toxicity, whereas other cases remain uncommon. We report a 5-year-old boy presenting with recurrent painless gross hematuria in whom a structured, stepwise evaluation excluded glomerular, infectious, structural, and systemic causes. Cystoscopy revealed diffuse mucosal inflammation with focal hemorrhagic changes involving the bladder neck and posterior wall, consistent with noninfectious HC. In the absence of an identifiable etiology and with persistent symptoms, management was directed toward restoring urothelial barrier integrity using intravesical hyaluronic acid (HA). The clinical response was rapid, with resolution of gross hematuria after the first instillation, followed by sustained remission and progressive endoscopic improvement. The treatment was well tolerated, and the patient remained disease-free at 12 months of follow-up. This case highlights the diagnostic complexity of unexplained hematuria in children and supports a potential role of urothelial barrier dysfunction in the pathogenesis of noninfectious HC.

The Oxford® Partial Knee (OPK; Zimmer Biomet, Warsaw, IN, USA) is a widely used unicompartmental knee arthroplasty (UKA) system. We report a case in which valgus malpositioning of the tibial component relative to the resection surface may have contributed to an early postoperative fracture. A 70-year-old woman underwent bilateral cementless OPK arthroplasty. On the left side, the tibial component was inserted in valgus alignment relative to a slight varus resection. Postoperative CT revealed a non-displaced tibial fracture. Internal fixation was performed, and bone healing proceeded uneventfully. The fracture was likely caused by valgus alignment of the component relative to the tibial cut, producing an eccentric loading, thereby generating a wedge effect and rotational force. Contributing factors for this malpositioned component placement may have included inadequate osteophyte removal, oversized component impingement on the medial collateral ligament (MCL), meniscal cuff interposition, and malaligned keel slot preparation. Bone union was achieved with stable fixation and biological bone ingrowth. Valgus malpositioning of the tibial component relative to the resection surface represents a previously unreported risk factor for periprosthetic tibial fracture in cementless OPK. Careful intraoperative technique can reduce this risk, and bone healing remains achievable following fracture.

The literature for a first metatarsocuneiform joint (MCJ) arthrodesis procedure and an early weight bearing post-operative regime (<2 weeks) has been systematically reviewed [1,2]. The concern regarding an increased risk of non-union with early weight bearing has largely been anecdotal. This is a single surgeon retrospective review assessing the union rates achieved following a Lapidus (1st tarsometatarsal joint) arthrodesis in the treatment of Hallux valgus using an anatomically contoured plantar plate and applying an early weight-bearing regime. A retrospective study of consecutive patients who underwent this surgical technique between June 2019 and January 2025 were reviewed. Patients were evaluated at 8 weeks post operation for weight bearing x rays and returned for final clinical review at 6 months post operation. Clinical outcomes were validated through the Manchester-Oxford Foot Questionnaire (MOXFQ) and patient satisfaction (PSQ10) survey. Union of the arthrodesis and complications were reported. A total of 72 patients (60 female and 12 male) with a mean age of 60.60 (range 29 - 75) were analysed. The mean MOXFQ score improved across all domains. All three domains demonstrated highly significant post-operative improvement (p&#x202f;<&#x202f;0.001 for all). Mean reductions were 26.2 points for Walking Standing (95% CI: 18.6-35.0; Cohen's d = 0.93), 25.6 points for Pain (95% CI: 18.7-32.9; Cohen's d = 1.03), and 37.5 points for Social Interaction (Cohen's d = 1.66). Effect sizes ranged from large to very large, indicating clinically meaningful improvements. There were no reported non-unions or plate failures. Fixation removal was required in 1 patient (1.5%). Ninety percent of patients were back to normal supportive footwear by 8 weeks. This study has demonstrated the low complication rates and acceptable safety profile of an immediate weight bearing post-operative regime following a first MCJ arthrodesis procedure with a single locking plantar plate fixation modality. It provides a larger cohort of patients to support the benefits of plantar plate fixation highlighted in other supporting systematic reviews for a first tarsometatarsal joint arthrodesis. [2] LEVEL OF EVIDENCE: IV.

A 59-year-old woman was diagnosed with luminal-type invasive lobular carcinoma (ILC) of the breast, cT3N3bM0, cStage IIIC. After neoadjuvant chemotherapy, she underwent mastectomy and axillary lymph node dissection, and pathological examination revealed ypT3N0M0, ypStage IIB. She subsequently received postmastectomy radiation therapy and endocrine therapy. Nine months after surgery, she developed multiple bone metastases, followed one month later by headache and diplopia. Brain magnetic resonance imaging revealed lesions in the occipital lobe, cerebellum, and pineal gland. Endoscopic biopsy confirmed pineal metastasis of ILC with subtype conversion to triple-negative breast cancer. Whole-brain radiation therapy with local boost irradiation was administered, followed by systemic chemotherapy. Comprehensive genomic profiling revealed high tumor mutational burden. This case highlights the clinical value of biopsy for atypical brain metastases in guiding therapeutic decision-making.

Struma ovarii is a rare monodermal teratoma composed predominantly of thyroid tissue. While typically benign, its clinical and radiological presentation can be highly deceptive, often mimicking a malignant ovarian tumor. A 52-year-old postmenopausal Afghan woman presented with progressive abdominal distension, pelvic pain, severe ascites, and a complex, highly vascular right adnexal mass. Imaging (ORADS 5) and markedly elevated CA-125 suggested advanced ovarian carcinoma. Despite receiving seven cycles of carboplatin/paclitaxel chemotherapy for presumed primary peritoneal carcinoma, the mass and ascites persisted. Following laparotomy and left salpingo-oophorectomy, histopathology confirmed benign struma ovarii without peritoneal carcinomatosis. Postoperatively, ascites resolved and CA-125 normalized. The patient remained well with no recurrence at 14-month follow-up. This case underscores the critical importance of considering struma ovarii in the differential diagnosis of a complex ovarian mass, even when clinical features and tumor markers strongly suggest malignancy.

Psychiatric-onset dementia with Lewy bodies (poDLB) is a recognised but poorly characterised prodromal phenotype. The existing literature focuses almost entirely on de novo psychiatric presentations; decompensation of pre-existing primary psychiatric illness as a manifestation of poDLB has not previously been described. We present a case of a patient with a near-lifelong history of severe obsessive compulsive disorder (OCD), decompensation of which in her early 70s was later recognised as a harbinger of dementia with Lewy bodies (DLB). Escalating OCD symptoms, emergent parkinsonism, and cognitive fluctuations culminated in a probable DLB diagnosis within one year of psychiatric presentation, supported by significantly abnormal dopamine transporter imaging. Recognising decompensation of longstanding primary psychiatric illness as a potential manifestation of poDLB has important implications for timely diagnosis, safe prescribing (particularly neuroleptics) and early biomarker-driven referral.

Realizing the promise of precision medicine will require the highest standards of accuracy in genome sequencing and analysis. Here we describe challenges and opportunities for the field through the lens of genome data quality. We present recommendations in the context of specific areas of application for genomic sequencing in which isolated standards have arisen: germline sequencing, tumour sequencing, cell-free DNA testing, and sequencing for quality control in genetic therapy. Despite these distinct clinical contexts, technical challenges are often similar; for example, accurately detecting low-frequency genetic variants in tumour sequencing or gene-edited cells. We call for increased synchronization among these communities to establish new medical genome standards that promote confidence in genomic diagnostics and genetic therapies in a time of rapid technology-driven change. We suggest practical approaches for implementing these genome standards across contexts, and identify key areas that require further development.

Roberts syndrome (RBS) is a rare autosomal recessive cohesinopathy caused by pathogenic ESCO2 variants and characterized by severe growth restriction, limb reduction defects, and craniofacial anomalies. Cryptophthalmos is classically associated with Fraser syndrome and is not well described in RBS. We report a 7-day-old male neonate born to consanguineous parents who presented with respiratory distress, poor feeding, severe growth restriction, symmetrical limb reduction defects, ambiguous genitalia, and bilateral cryptophthalmos. Prenatal ultrasonography identified limb and genitourinary anomalies. Postnatal evaluation demonstrated multisystem involvement, including horseshoe kidney with hydronephrosis. Molecular testing identified a homozygous pathogenic ESCO2 variant, confirming Roberts syndrome. Although cryptophthalmos initially raised concern for Fraser syndrome, the overall phenotype and genetic findings supported RBS. This case expands the recognized phenotypic spectrum of Roberts syndrome and highlights the importance of molecular testing in complex congenital presentations.

Postoperative hypocalcemia following cervical surgery is typically attributed to hypoparathyroidism. However, hypomagnesemia is a reversible cause that impairs parathyroid hormone (PTH) secretion and target-organ responsiveness. We report a 35-year-old woman with recurrent symptomatic hypocalcemia after reoperative neck exploration for recurrent papillary thyroid carcinoma. Despite aggressive calcium and vitamin D supplementation, hypocalcemia persisted with inappropriately suppressed PTH. Due to resource limitations, serum magnesium evaluation was delayed until postoperative day 6, revealing severe hypomagnesemia. Magnesium repletion led to prompt serum calcium improvement and partial PTH recovery. Although the lack of contemporaneous phosphate and serial PTH measurements is a limitation, the rapid clinical response strongly supports a functional hypoparathyroid state. This case emphasizes early magnesium assessment in refractory postoperative hypocalcemia, demonstrating how resource limitations can delay diagnosis and prolong morbidity.

Sertoli cell tumors (SCTs) of the ovary are rare sex cord-stromal neoplasms. We describe a 37-year-old Ethiopian woman (G2P2) with six months of progressive lower abdominal pain but no virilization. Ultrasound revealed a solid 11&#xa0;cm right adnexal mass. Hormonal profile was normal. An open fertility-sparing right salpingo-oophorectomy was performed. Histopathology confirmed a FIGO Stage IA well-differentiated pure SCT. Postoperative surveillance was conducted via clinical pelvic examinations and abdominal/pelvic ultrasounds every three months. At 12-month follow-up, there was no recurrence. This case highlights that SCTs may be hormonally inactive; histopathologic evaluation remains decisive, and fertility-preserving surgery is a safe option in early-stage lesions.