Case Review Research Articles

COL9A1-related disorder with pectus carinatum, without epiphyseal dysplasia: case report and review of literature.

COL9A1 encodes the alpha-1 chain of type IX collagen heterotrimer, which is a vital component of collagen fibrils in hyaline cartilage. There are preliminary lines of evidence suggesting that COL9A1 mutations may be associated with autosomal dominant multiple epiphyseal dysplasia (MED), a disorder affecting the epiphysis of long bones. With only 2 reported cases (both from the same family) of MED in autosomal dominant COL9A1-related disorders (MIM 614135) in the clinical scientific literature hitherto, the phenotype is poorly understood at present. Here, we report the clinical and imaging findings associated with a novel COL9A1 mutation in comparison to the previously reported cases. We studied a 22-year-old male, who presented with a chronic history of leg pain and laxity of the knee joint, in the context of a history of pectus carinatum requiring a chest brace, and tall stature (height = 186.9cm) with bilateral piezogenic pedal papules. Gene panel testing and a radiographic skeletal survey were subsequently performed. Gene panel test showed a heterozygous pathogenic variant in the COL9A1 that is denoted as c.188del (p.Phe63Serfs*3) and is predicted to result in a loss-of-function. The patient's long bones all appeared slender on a radiograph, without apparent epiphyseal dysplasia. Our findings suggest that the phenotypic spectrum of COL9A1-related disorders may potentially include other skeletal anomalies (such as pectus carinatum and slender appearance of long bones) aside from epiphyseal dysplasia.

Critical Analysis of the Role of Oncology Nurses in Holistic Cancer Care

Oncology clinical nurses care for cancer clients, especially in clinical, psychosocial, and spiritual contexts. Their roles are essential to managing the myriad, often stressful and even oppressive, experiences that patients go through during the continuum of cancer disease. This paper critically examines the role of oncology nurses in providing comprehensive cancer care, focusing on their impact on patient outcomes, quality of life, and the overall health system. The following analysis, which is based on a literature and case review as well as a nursing framework, not only identifies the role and contributions of oncology nurses but also highlights their concerns in providing holistic care. Therefore, the results underscored the significance of training oncology nurses to enhance their knowledge, awareness, and practice, enhancing the quality of care they provide to cancer patients.

Severe community-acquired pneumonia compared to severe community-acquired Acinetobacter baumannii pneumonia in Reunion Island: A retrospective study.

Acinetobacter baumannii (Ab) has emerged in the last decades as a cause of community-acquired pneumonia (CAP) in tropical and subtropical regions. We previously conducted the first investigation on this topic in France with a case series of severe CAP-Ab in Reunion Island over an eight-year period. In the present work, we aim to highlight the specific aspects of CAP-Ab by comparing our case series with an historical cohort (PAC_RUN), obtained by retrospective chart review (2016-2021) of severe community-acquired pneumonia cases on Reunion Island, in which CAP-Ab was ruled out. During the study period, eight CAP-Ab cases were identified, giving an incidence of 0.1 cases per 100,000 people/year, and an incidence of 16.5 cases per 100,000 people/year for non-Ab-related CAP (n = 761). By comparing with non-Ab-related CAP, patients had more excessive alcohol use (75% vs. 25.6%, p = 0.005) and lower body mass index (21 vs. 24 kg/m2, p = 0.004). Six cases (75%) of CAP-Ab occurred during the rainy season (p = 0.06). Mortality was higher (62.5% vs. 24.3%, p = 0.02) and time to death was shorter (median 2 days vs. 7, p = 0.009) in the CAP-Ab group. Bacteraemic pneumonia was strongly associated with CAP-Ab (62.5% vs. 15.7%, p = 0.004). Significant differences were found in the need for renal replacement therapy (75% vs. 17.2%, p < 0.001), catecholamine use (100% vs. 54.5%, p = 0.01) and use of invasive mechanical ventilation (100% vs. 62.7%, p = 0.03). Also, in the proportion of severe acute respiratory distress syndrome (62.5% vs. 23.2%, p = 0.02), septic shock (100% vs. 40.6%, p < 0.001), and cardiogenic shock (87.5% vs. 15.9%, p < 0.001). Compared to severe non-Ab-related CAP, severe CAP-Ab is characterised by higher mortality, associated with a high frequency of multiple organ failure. Excessive alcohol consumption and malnutrition seem to be risk factors. To improve outcomes, broader spectrum antibiotic therapy must be immediately proposed when CAP-Ab is suspected.

Acute myeloid leukemia with NUP98::RARG rearrangement: a case report and review of the relevant literature.

We herein report a rare case of acute myeloid leukemia (AML) with t(11;12)(p15;q13) and NUP98::RARG, which seems to be involved in the development of AML. The morphological features were similar to those of classic acute promyelocytic leukemia (APL), but unlike classic APL, this leukemia was resistant to treatment with all-trans retinoic acid (ATRA). We decided to use standard chemotherapy for AML with monitoring of minimal residual disease (MRD) by qualitative reverse transcriptase-polymerase chain reaction (RT-PCR) analysis for NUP98::RARG mRNA. Although MRD disappeared after induction chemotherapy, it later reappeared, and hematological relapse occurred during subsequent chemotherapies. The patient received haploidentical hematopoietic stem cell transplantation while not in remission and achieved a second molecular remission. However, relapse occurred 4months after transplantation. The specific mechanism of ATRA resistance in this unique case of AML remains unclear, and no standard treatment has been determined. This is the first case report of AML with NUP98::RARG rearrangement in Japan. Qualitative RT-PCR analysis for NUP98::RARG mRNA was helpful for the accurate diagnosis and evaluation of MRD to choose an adequate treatment for this type of AML.

Successful Management of Disseminated Intravascular Coagulation in Metastatic Castrate-Resistant Prostate Cancer With Lutetium-177: A Case Report and Review of the Literature

Successful Management of Disseminated Intravascular Coagulation in Metastatic Castrate-Resistant Prostate Cancer With Lutetium-177: A Case Report and Review of the Literature

Planned Abscopal Effect with Concurrent Pembrolizumab and Ablative Radiotherapy to Pulmonary Metastasis: A Case Report and Review of the Literature

Planned Abscopal Effect with Concurrent Pembrolizumab and Ablative Radiotherapy to Pulmonary Metastasis: A Case Report and Review of the Literature

Idiopathic recurrent ischemic priapism: a review of current literature and an algorithmic approach to evaluation and management

BackgroundStuttering priapism is characterized by recurrent, self-limited episodes of penile erection lasting from a few minutes to a maximum of three hours, often resolving spontaneously. These episodes can occur with or without sexual stimulation. If not treated promptly and effectively, stuttering priapism can severely impact a patient’s quality of life, leading to significant psychological distress and anxiety related to sexual performance. Although it has been associated with various hematological disorders and pharmacological treatments, many cases of stuttering priapism remain idiopathic, meaning they have no identifiable cause. Currently, no conclusive randomized clinical trials exist on the management of idiopathic stuttering priapism. This study aims to review the existing literature on the pathophysiology and management of idiopathic stuttering priapism and propose an algorithm to assist physicians in its evaluation and treatment.ResultsA systematic literature review was conducted using the PubMed database, focusing on the terms “idiopathic,” “stuttering,” “ischemic,” and “priapism.” The search identified 23 relevant references published between 1991 and 2022. The selection and analysis of these studies adhered to the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines, and results were described qualitatively. Recent research into the effectiveness, sustainability, tolerability, and side effects of various treatments for idiopathic stuttering priapism has enhanced the understanding of its underlying molecular mechanisms. Various treatments, targeting different mechanisms, have been identified that can potentially reduce the frequency and severity of episodes and improve patient outcomes.ConclusionCurrent research predominantly addresses the acute treatment of idiopathic stuttering priapism rather than strategies to alter the disease’s overall course. The limited number of treatment reviews, case reports, and the low level of evidence available, combined with the absence of randomized clinical trials, prevent the establishment of a consensus on treatment protocols. As a result, idiopathic stuttering priapism remains under-recognized and under-treated. This review proposes a management framework to help clinicians access and apply the available literature effectively, minimizing the reliance on extensive case reports and review articles.

Critical Analysis of Foundational Healthcare Practices in Diverse Settings

Healthcare delivery systems vary depending on the economies, cultures, and infrastructures of the regions of the globe. Healthcare practices across various contexts should be used as building blocks of basic healthcare systems and concepts to design better healthcare systems. This paper critically evaluates essential healthcare practices in various contexts because it considers HICs, LMICs, and rural or remote regions. Based on a combination of case studies, review articles and evidence-based literature, this analysis assesses fundamental tenets of healthcare delivery: accessibility, quality, and sustainability. The paper focuses on modern and emerging healthcare modalities and discusses issues that are relevant today, including disparities and inequalities, shortage of resources, and human capital. This evokes a discussion of technology, public health policies, and global health programs before providing the authors’ suggestions for advancing health care globally.

Chronic Neutrophilic Meningitis in Tuberculous Infection: A Rare Case Presentation and review of the literature

Persistent neutrophilic pleocytosis syndrome is a rare form of tuberculous meningitis that is defined as the persistence of neutrophils in cerebrospinal fluid for more than 7 days, in association with the clinical features of meningitis (headache, fever, and positive meningeal signs).1 The exact pathogenesis of this syndrome is not well known yet, and it has many diverse etiologies, including infectious and noninfectious ones. among infectious ones: bacteria such as Nocardia and Actinomyces, and systemic mycoses such as Aspergillus and the zygomycetes, as well as mycobacterium.2 This entity is very rare in immunocompetent patients, and most of the cases are due to infectious causes in those who are immunocompromised. The usual scenario in such cases is initiating broad-spectrum antimicrobial agents without any improvement, therefore the diagnosis is difficult initially and often delayed. Therefore, the epidemiologic features and clinical profile may offer clues to the etiologic agent, especially in the immunocompromised host.3

Case Report: single low-dose of denosumab as a trigger of MRONJ development in a patient with osteoporosis after bisphosphonate therapy

Both denosumab (DMB) and bisphosphonates (BPs), antiresorptive drugs (ARDs) used for the treatment of osteoporosis and oncological disorders, are known for their potential to cause medication-related osteonecrosis of the jaws (MRONJ). Besides ARDs, statins were recently associated with MRONJ development, especially in patients taking higher doses of statins for a longer period of time. Here, we report a case of a female patient with osteoporosis using statins and treated with alendronate for 3 years who rapidly developed MRONJ stage III after only a single low dose of DMB. After partial maxillectomy complete healing was observed without any recurrence. We performed a literature review of cases with MRONJ triggered by a single low dose of DMB, with or without previous application of other ARDs. Only six similar cases of patients who developed MRONJ after a single low dose of DMB following previous BP therapy have been reported so far. Besides these, literature reports one patient who developed MRONJ after a single dose of DMB following romosozumab treatment and five cases developing MRONJ after a single dose of DMB even without any previous ARD treatment. We suggest that before DMB therapy is initiated, all factors predisposing to MRONJ development should be considered.

Intraoperative Epoprostenol in Type II Heparin-Induced Thrombocytopenia During Left-Ventricular Assist Device Implantation: A Case Series and Review of Literature.

Type II heparin-induced thrombocytopenia and thrombosis (type II HITT) is a rare but serious complication in patients receiving heparin for anticoagulation. In type II HITT, an immune-mediated reaction against platelet factor four-heparin complexes results in thrombocytopenia and an elevated risk of thrombosis. This poses significant challenges for patients with advanced heart failure requiring urgent left-ventricular assist device (LVAD) implantation. The use of direct thrombin inhibitors, the typical alternative to heparin, is associated with increased bleeding risk and lacks a reversal agent, limiting their use in cardiac surgery. We present two cases of intraoperative epoprostenol to facilitate implantation of a durable LVAD in type II HITT, of which one case underwent preoperative plasmapheresis and intravenous immunoglobulin (IVIG) therapy. Epoprostenol, a prostacyclin analog, was used intraoperatively during LVAD implantation to inhibit platelet activation and allowed for the safe administration of heparin during cardiopulmonary bypass. Both patients underwent successful LVAD implantation without thrombotic or major bleeding complications. These cases highlight the potential of using intraoperative epoprostenol in conjunction with preoperative plasma exchange (PLEX) and IVIG to mitigate the risks associated with heparin use in patients with type II HITT, offering an alternative approach for this high-risk group requiring urgent cardiac surgery.

Antiphospholipid syndrome followed idiopathic retroperitoneal fibrosis in the same patient: A case report and review of literature

AbstractIntroductionIdiopathic retroperitoneal fibrosis (IRPF) is a rare fibro‐inflammatory disease characterized by fibrous sclerosis of the retroperitoneal area and may be accompanied by other autoimmune diseases. Herein, we report an unusual case of IRPF with compression of retroperitoneal vessels, then diagnosed with antiphospholipid syndrome (APS), evidenced by multiple venous thrombosis and persistent positivity of antiphospholipid antibodies (aPLs). Along with literature reviews, we highlighted the important of screening for all possible causes in case of thrombosis secondary to IRPF.Case DescriptionA 46‐year‐old male patient was admitted in 2010 due to hypogastralgia and low back pain. The initial laboratory findings showed elevated inflammatory indicators, but negative results of immunology screening. Abdominal computed tomography (CT) revealed diffuse soft tissue in the retroperitoneal area. IRPF was first diagnosed and initially treated with glucocorticoids and immunosuppressants. Along the process of tapering the drugs, IRPF relapsed again. Reexamination of CT scan showed newly developed thrombus in the retroperitoneal vessels. APLs were evaluated and persistently positive with the interval of six months. The diagnosis of APS was confirmed. Glucocorticoids and immunosuppressants were prescribed again accompanied with warfarin. During 17‐month follow‐up periods, there was no relapse of symptoms again.ConclusionWhen IRPF is accompanied by venous thrombosis, in addition to blood flow stasis due to venous compression, other potential causes of thrombophilia should also be considered.

Small intestinal metastasis from primary breast cancer: a case report and review of literature

Small intestinal metastasis from primary breast cancer remains a rare clinical occurrence. Despite extensive research into its clinicopathological features and treatment options, the specific pathogenesis and optimal management strategies remain incompletely understood. This case report presents a patient with breast cancer that metastasized to the small intestine. The primary breast tumor was diagnosed as classic invasive lobular carcinoma. Subsequent surgical intervention successfully addressed the intestinal obstruction and confirmed the metastatic origin of the small intestinal tumor. Interestingly, the metastatic lesions exhibited features suggestive of pleomorphic lobular carcinoma. A PET-CT scan was performed to evaluate the distant metastasis status of this patient. Notably, hormonal receptor status shifted from positive to negative, while HER2 expression changed from negative to low between the primary tumor and metastatic lesions. The presence of an undiagnosed pleomorphic component in the primary tumor might explain the disease’s progressive nature. In this case, systemic treatment with trastuzumab deruxtecan yielded favorable therapeutic outcomes. Overall, our findings suggest that re-evaluation of receptor status in breast cancer metastases is crucial for tailoring treatment strategies. Furthermore, a combination of palliative resection of small intestinal metastases and targeted therapy for HER2-low breast cancer may potentially improve survival.

Cranial vault expansion in treatment of paediatric idiopathic intracranial hypertension.

Idiopathic intracranial hypertension (IIH) is a rare clinical entity in the paediatric population. Clinical presentation is mostly similar to adult counterpart and can include headaches, vomiting, papilloedema, deterioration in visual acuity or fields, and 6th cranial nerve palsy, leading to significant morbidity. Therapeutic lumbar puncture and medical treatment with acetazolamide are usually the first-line treatments. In a minority of refractory cases, particularly where visual function is threatened, CSF diversion has been traditionally used in clinical practice. CSF diversion in IIH patients can be associated with high rate of shunt malfunction and revision due to small ventricular size leading to repeated procedures. We describe our experience with cranial vault expansion as a method of treatment of paediatric IIH cases refractory to medical treatment as a CSF diversion sparing method. Following review of IIH cases undergoing surgical treatment in our unit over 15years (years 2009-2024), cases receiving cranial vault expansion as primary surgical treatment were selected and further analysed. Inclusion criteria were paediatric cases (age < 16) undergoing vault expansion as first surgical treatment for IIH refractory to pharmacological treatment for vision-threatening papilloedema. All cases were discussed within multidisciplinary meeting and selected following consideration of all management options. Over the studied period, we identified two cases of refractory IIH with severe papilloedema undergoing cranial vault expansion as primary shunt-sparing surgery. Both patients presented with symptoms of headaches, vomiting, and blurred vision with ophthalmological confirmation of severe papilloedema despite pharmacological therapy. Following multidisciplinary discussions, both underwent successful supratentorial vault expansion. Pharmacological treatment was discontinued in both cases following surgery. Evaluation at latest follow-up showed resolution of symptoms and papilloedema with no need for subsequent cerebrospinal fluid diversion at the latest follow-up. Cranial vault expansion is a viable and safe alternative surgical option in paediatric IIH cases refractory to medical treatment obviating the need for repeated shunt procedures. In cases with extremely small ventricles or where parental choice precludes CSF diversion, cranial vault expansion can be considered.

Frostbite on Denali: a case series and review of treatment options.

Frostbite, defined as tissue freezing due to cold weather exposure, is a major risk associated with mountaineering in cold climates. It represents a significant source of morbidity in the climbing population. In 2021, three individuals were evaluated at a single institution after developing frostbite while climbing Denali, Alaska, US. The affected patients were healthy men in the third to sixth decade of their lives, and all experienced frostbite injuries involving the fingers. Among the patients, one individual was unable to descend from the mountain due to the severity of his condition and required medical evacuation. The other men were able to descend without significant difficulty. After leaving the mountain, the patients were treated with thrombolysis, pentoxifylline, hyperbaric oxygen therapy, and/or regional sympathetic blockade. Exposure to cold weather, ascent to high altitudes, and increased mechanisms of heat loss were likely potential risk factors for frostbite injury in these patients. Psychological factors related to the COVID-19 pandemic may have also impacted these individuals' risk for frostbite injury. Prevention is the most effective way to avoid frostbite, and knowledge and understanding of the risks associated with the development of this condition may reduce future occurrences among mountaineers. Since frostbite is not a common diagnosis encountered in patients treated in outpatient wound centres, physicians should maintain awareness of the pathophysiology and treatment options for this condition.

Rare Spinocerebellar Ataxia Types in Canada: A Case Series and Review of the Literature.

There is limited information on rare spinocerebellar ataxia (SCA) variants, particularly in the Canadian population. This study aimed to describe the demographic and clinical features of uncommon SCA subtypes in Canada and compare them with international data. We conducted a case series and literature review of adult patients with rare SCA subtypes, including SCA5, SCA7, SCA12, SCA14, SCA15, SCA28, SCA34, SCA35 and SCA36. Data were collected from medical centers in Ontario, Alberta and Quebec between January 2000 and February 2021. We analyzed 25 patients with rare SCA subtypes, with onset ages ranging from birth to 67 years. Infantile and juvenile-onset cases were observed in SCA5, SCA7, SCA14 and SCA34. Most patients presented with gait ataxia, with no significant differences across groups. Additional common features included saccadic abnormalities (22 of 25), dysarthria (19 of 25) and nystagmus (12 of 22, except in SCA7). Less common findings included dystonia (8 of 25), cognitive impairment (7 of 25), tremor (9 of 25) and parkinsonism (3 of 25). Our study highlights the heterogeneity of rare SCA subtypes in Canada. Ongoing longitudinal analysis will improve the understanding, management and screening of these disorders.

Emphysematous Pyelonephritis at 29 Weeks of Gestation: A Case Report and Review of the Literature

Emphysematous Pyelonephritis at 29 Weeks of Gestation: A Case Report and Review of the Literature

A rectal ulcer caused by hydrogel spacer insertion: A case report and review of the literature

AbstractA 75‐year‐old man presented with hematochezia. He had been diagnosed with prostate cancer (stage 1) 1 month previously and had undergone gold marker injection and hydrogel spacer insertion 3 weeks previously to prepare for radiotherapy. Hydrogel spacer insertion is a safe procedure that can prevent the side effects of radiotherapy for prostate cancer. A computed tomography evaluation identified a low‐density area that extended from the prostate to the rectal wall. Magnetic resonance imaging of the abdomen revealed the hydrogel spacer between the anterior rectal wall and prostate. A colonoscopy revealed an approximately 2 cm ulcer in the rectum. The patient was diagnosed with a rectal ulcer with bleeding caused by hydrogel spacer insertion. Conservative follow‐up was performed, and his condition improved over time. Radiotherapy for prostate cancer was initiated 4 months after hydrogel spacer insertion. The patient has not experienced any abdominal symptoms such as bloody stools since that time. Because the incidence of prostate cancer is increasing, the number of such cases is likely to increase in the future.

External auditory canal osteoma with coexisting canal wall cholesteatoma: a case report and review of literature

BackgroundThough rare, benign lesions that usually do not necessitate active intervention, osteomas of the external auditory canal, can be troublesome when they start to produce mass effect and severe obstruction to the external auditory canal. Even more insidious is the rarer phenomenon of canal wall cholesteatomas, which have been known to cause significant canal erosion and if left unchecked and spontaneous destruction of the adjacent anatomical structures, including the facial nerve, temporomandibular joint, sigmoid sinus, and skull base. The occurrence of both these exceptionally uncommon findings in the same canal is an unusual finding and may point to an undetermined interplay in pathogenesis.Case presentationHere, we describe one such case in a 39-year-old gentleman hailing from South India who presented with complaint of unilateral ear block and decreased hearing and how it was managed.ConclusionsWhile osteomas are usually incidental findings in asymptomatic patients, the potential for mass effect and canal obstruction must be kept in mind and patients must be evaluated for development of the more sinister cholesteatoma in the deeper canal.

Guideline on the Use of Intravenous Ketamine for Procedural Sedation in the Children's Emergency Department: A Quality Improvement Project.

In pediatric emergency medicine, sedation is crucial for performing some therapeutic procedures in children. Ketamine is still not widely used, despite being the preferred agent due to its effectiveness and safety profile. Implementing a guideline for intravenous ketamine in emergencies requiring procedural sedation in children, as well as training and evaluating staff competencies in performing this procedure, are the aims of this study. Senior and mid-level physicians, including pediatric nurses working in the children's emergency department (ED), have easy access to this concise repository for carrying out this procedure safely and effectively. The main objective was to implement a policy (guideline) for sedation in the children's ED. The secondary objectives were to determine whether the introduction of this policy increased the overall satisfaction rating of procedural sedation as a service offered in the Trust, to close skillgaps among staff through targeted training, and to assess the degree of recommendation for this ongoing standard of practice, in line with the current best evidence. A retrospective review of pediatric sedation cases with fractures in the children's ED of Buckinghamshire Healthcare National Health Service (NHS) Trust was conducted between June 2022 and August 2023. Surveys were sent out to assess attitudes, sedation skills, and compliance with the Royal College of Emergency Medicine (RCEM) guidelines. A policy for pediatric sedation with intravenous ketamine was later created and put into effect. Pre- and post-intervention data were compared to assess changes in sedation competency, compliance, and confidence. Out of the 103 pediatric fracture cases reviewed, 16 were identified as needing reduction upon initial evaluation, based on the child's condition at presentation. However, only one (6%) was treated with ketamine sedation in the children's ED, whereas nine cases (56%) were reduced under general anesthesia. The remainder was treated with varying use of nitrous oxide gas (Entonox) and diamorphine. Significant progress had been made after a clinical guideline for intravenous ketamine-assisted sedation in children was put into practice. Physicians reported improved knowledge of sedation techniques, knowledge of airway control, and safety in administering ketamine sedation. The percentage of respondents supporting the guidelines increased from 61% before the intervention (nValue=11) to 94% after (nValue​=17), using various metrics. These results demonstrated how well evidence-based policies and training can improve performance, competence, and safety. The use of procedural sedation in the children's EDincreased and the need for general anesthesia was significantly reduced after a uniform pediatric ketamine sedation policy was implemented. Targeted training to address skillgaps increased employee confidence and adherence to best practices.