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Cureus Apr 2024Pontocerebellar hypoplasia type 9 (PCH9) is a rare, autosomal, recessive, neurodevelopmental disorder caused by a mutation in the AMPD2 gene. Despite its rarity, it...
Pontocerebellar hypoplasia type 9 (PCH9) is a rare, autosomal, recessive, neurodevelopmental disorder caused by a mutation in the AMPD2 gene. Despite its rarity, it presents distinctive clinical and neuroradiological features. Diagnosing it is challenging yet crucial for appropriate management. We describe a 21-month-old boy with clinical and neuroradiological manifestations of the diagnosis, including characteristic signs such as an eight-configured midbrain and hypoplasia of the brainstem and cerebellar structures. Genetic evaluation confirmed homozygous missense mutations in the AMPD2 gene. This case highlights the pathognomonic neuroradiological features of pontocerebellar hypoplasia type 9 that point toward diagnosis.
PubMed: 38957830
DOI: 10.7759/cureus.58522 -
Cureus Apr 2024Although most melanomas have a cutaneous origin, melanomas are rarely discovered without an overt primary site and are found in the metastatic stage. This phenomenon is...
Although most melanomas have a cutaneous origin, melanomas are rarely discovered without an overt primary site and are found in the metastatic stage. This phenomenon is called melanoma of unknown primary (MUP), which was first recorded in 1963.Melanoma can also rarely present as tumoral melanosis, which has completely regressed. By definition, this does not have viable melanocytes and histologically presents as an infiltration of melanophages and melanin. A 71-year-old female presented for dermatologic evaluation after being found to have melanoma of unknown primary (MUP). The MUP, located in multiple lymph nodes of the left superior and inferior inguinal region, was found on preoperative imaging indicated for surgical management of endometrial carcinoma. After the biopsy, a positron emission tomography-computed tomography (PET-CT) scan was performed to determine the extent of involvement, which noted focal uptake of the left heel of just medial to midline with an SUV max of 2.1. Based on the PET-CT findings, the patient was questioned about the lesion on her heel. She had suspected this was due to friction and stated it had been asymptomatic and present for years. This unique case demonstrates that combined total skin examination and whole-body radiologic imaging (preferably PET-CT) are both critical elements in the evaluation of MUP. Since melanoma of unknown primary is at least American Joint Committee on Cancer (AJCC) 8 Stage III (due to N1 status), imaging is reasonable in these patients.
PubMed: 38957829
DOI: 10.7759/cureus.58523 -
Cureus Apr 2024Unilateral hypertrophy of the Tensor Fasciae Latae (TFL) muscle is a rare condition often characterized by a palpable mass in the lower limbs or hip pain. Despite its...
Unilateral hypertrophy of the Tensor Fasciae Latae (TFL) muscle is a rare condition often characterized by a palpable mass in the lower limbs or hip pain. Despite its rarity, several causative factors have been identified, necessitating accurate diagnosis and appropriate management. Here, we present the case of a 53-year-old patient who sought outpatient consultation for a mass in the anterolateral aspect of the right thigh. Through this case study, we aim to contribute to the limited literature on this condition by discussing our diagnostic approach, management plan, and outcomes. Upon presentation, the patient underwent a thorough physical examination, revealing a non-tender, sessile mass seemingly originating in the deep connective tissue of the thigh. A magnetic resonance image (MRI) was performed to confirm the diagnosis and assess the extent of muscle involvement. This noninvasive modality provided valuable insights into the nature and localization of the mass, providing the diagnosis and guiding subsequent management decisions. Given the benign nature of the condition and absence of associated symptoms, conservative management was favored. Physical therapy focusing on stretching and strengthening exercises was initiated to address the underlying probable causes and improve functional capacity. Close monitoring through regular follow-up appointments was also recommended to track the progression of the hypertrophy and ensure symptomatic relief. Unilateral hypertrophy of the TFL muscle is a rare entity that presents diagnostic and management challenges. Through our case study, we have highlighted the importance of a comprehensive diagnostic workup, including imaging studies, in confirming the diagnosis and guiding management decisions. Conservative approaches, such as physical therapy, can effectively manage symptoms and improve quality of life in affected individuals. Continued research and documentation of cases are essential to expand our understanding of this condition and refine treatment strategies.
PubMed: 38957828
DOI: 10.7759/cureus.58547 -
Cureus Apr 2024Hydrocephalus involves the enlargement of the ventricular system due to increased cerebrospinal fluid. This condition often presents with ventriculomegaly, associated...
Hydrocephalus involves the enlargement of the ventricular system due to increased cerebrospinal fluid. This condition often presents with ventriculomegaly, associated with cognitive decline, gait disturbances, visual changes, and other neurological symptoms. In adults, hydrocephalus may result from longstanding overt ventriculomegaly in adults (LOVA), characterized by macrocephaly, subnormal IQ, urinary incontinence, and gait issues. In a recent case report, a 52-year-old Hispanic female displayed similar predisposing factors and radiological findings for a LOVA diagnosis. Despite the absence of focal neurological deficits or typical complaints, she experienced a breakthrough seizure episode after years without incident.
PubMed: 38957827
DOI: 10.7759/cureus.58533 -
Cureus Apr 2024We present a unique case of an 80-year-old male who presented to our emergency department following cardiac defibrillation when he was found to be in polymorphic...
We present a unique case of an 80-year-old male who presented to our emergency department following cardiac defibrillation when he was found to be in polymorphic ventricular tachycardia (VT) after a syncopal event while at cardiac rehabilitation. He had known coronary artery disease and had a four-vessel coronary artery bypass graft (CABG) 20 years prior to presentation. He underwent left heart catheterization (LHC) two months prior to the syncopal event for worsening shortness of breath and the decision at that time was to proceed with medical management and intervene with redo-CABG if shortness of breath did not improve or progressively worsened. While admitted under our care after the polymorphic VT event, we faced the dilemma of whether to proceed with redo-CABG first since cardiac ischemia is a common cause of polymorphic VT or whether to insert an implantable cardioverter-defibrillator (ICD) before proceeding with redo-CABG. We present the current literature that addresses ICD implantation for secondary prevention and our approach to this complicated case.
PubMed: 38957826
DOI: 10.7759/cureus.58543 -
Cureus Apr 2024The coronavirus disease 2019 (COVID-19) pandemic has had a significant impact globally, resulting in a higher death toll and persistent health issues for survivors,...
Identification of Differentially Expressed Genes and Protein-Protein Interaction in Patients With COVID-19 and Diabetes Peripheral Neuropathy: A Bioinformatics and System Biology Approach.
The coronavirus disease 2019 (COVID-19) pandemic has had a significant impact globally, resulting in a higher death toll and persistent health issues for survivors, particularly those with pre-existing medical conditions. Numerous studies have demonstrated a strong correlation between catastrophic COVID-19 results and diabetes. To gain deeper insights, we analysed the transcriptome dataset from COVID-19 and diabetic peripheral neuropathic patients. Using the R programming language, differentially expressed genes (DEGs) were identified and classified based on up and down regulations. The overlaps of DEGs were then explored between these groups. Functional annotation of those common DEGs was performed using Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), Bio-Planet, Reactome, and Wiki pathways. A protein-protein interaction (PPI) network was created with bioinformatics tools to understand molecular interactions. Through topological analysis of the PPI network, we determined hub gene modules and explored gene regulatory networks (GRN). Furthermore, the study extended to suggesting potential drug molecules for the identified mutual DEG based on the comprehensive analysis. These approaches may contribute to understanding the molecular intricacies of COVID-19 in diabetic peripheral neuropathy patients through insights into potential therapeutic interventions.
PubMed: 38957825
DOI: 10.7759/cureus.58548 -
Cureus Apr 2024Propylthiouracil (PTU) has been identified as a known cause of anti-neutrophil cytoplasmic antibodies-associated vasculitis. However, the association between PTU and...
Propylthiouracil (PTU) has been identified as a known cause of anti-neutrophil cytoplasmic antibodies-associated vasculitis. However, the association between PTU and immunoglobulin A (IgA) vasculitis remains uncertain due to its rarity and diverse clinical presentation. Here, we report the case of a 57-year-old female with a past medical history of chronic leukopenia and Graves' disease treated with PTU that presented with pancytopenia and widespread non-blanching ecchymoses on the bilateral legs. A punch biopsy of the medial leg demonstrated IgA vasculitis and autoimmune antibody analysis revealed increased levels of anti-proteinase 3 antibodies compared to anti-myeloperoxidase antibodies. These findings led to the diagnosis of PTU-induced IgA vasculitis. Following the discontinuation of PTU, there was marked improvement in the appearance of the patient's cutaneous manifestations and hematological indices.
PubMed: 38957824
DOI: 10.7759/cureus.58535 -
Cureus Apr 2024Background Spinal metastatic disease is a silent progressive cancer complication with an increasing prevalence worldwide. The spine is the third most common site where...
Background Spinal metastatic disease is a silent progressive cancer complication with an increasing prevalence worldwide. The spine is the third most common site where solid tumors metastasize. Complications involved in spinal metastasis include root or spinal cord compression, progressing to a declining quality of life as patient autonomy reduces and pain increases. The main objective of this study is to report the incidence of patients and typology of spinal metastases in three reference centers in Mexico. Methodology Retrospective cohorts of patients diagnosed with spinal metastases from January 2010 to February 2017 at the National Cancer Institute, National Rehabilitation Institute, and the Traumatology and Orthopedics Hospital "Lomas Verdes" in Mexico City were analyzed. Results A total of 326 patients (56% males) with spinal metastases were reported. The mean age was 58.06 ± 14.05 years. The main sources of spinal metastases were tumors of unknown origin in 53 (16.25%) cases, breast cancer in 67 (20.5%) cases, prostate cancer in 59 (18%) cases, myeloma in 24 (7.4%) cases, and lung cancer in 23 (7.1%) cases. Conclusions The data obtained in this analysis delivers an updated standpoint on Mexico, providing the opportunity to distinguish the current data from global references. Collecting more epidemiological information for better recording of cancer and its associated complications, as well as further studies on them, is necessary.
PubMed: 38957823
DOI: 10.7759/cureus.58546 -
Cureus Apr 2024Appendicectomy is the most frequent emergency general surgical procedure. Prior research highlights the importance of histopathology analysis after appendicectomy which...
INTRODUCTION
Appendicectomy is the most frequent emergency general surgical procedure. Prior research highlights the importance of histopathology analysis after appendicectomy which is the practice in many countries including the United Kingdom (UK), aiming to prevent any oversight of vital findings and the avoidance of potential delays in patient care. Our primary objective was to audit the extent to which surgeons adhere to the NHS England patient safety guidelines from 2016 when it comes to timely reviewing and effectively communicating histopathology results to patients and/or their general practitioners following appendicectomy procedures. Our secondary objective was to amend practice, if deemed necessary, following the implementation of agreed-upon protocols, with the expected improvements being observable in the second cycle of the audit.
METHODS
In our two-cycle audit, we performed a retrospective analysis using online patient records from a single centre in the UK. The initial cycle involved cases of emergency appendectomies carried out consecutively for suspected appendicitis from April 2018 to June 2019. Following the clinical governance meeting and the implementation of recommendations, the second audit cycle covered cases between September 2020 and October 2020.
RESULTS
In the first cycle, among 418 laparoscopic appendectomies, 207 (49.52%) and 47 reports (11.24%) were reviewed within a 15-day and a 16-30-day window, respectively, following the online availability of histopathology results. Notably, 116 reports (27.75%) remained unreviewed by surgeons, and only 67 (16.02%) of these reports documented communication with patients and/or their general practitioners. In the second cycle, involving 49 patients, 38 reports (77.55%) were reviewed within the first 15 days, and 10 reports (20.4%) were reviewed between 16-30 days. Among these, 16 reports (32.65%) documented communication with patients and/or their general practitioners.
CONCLUSIONS
Our adherence to the aforementioned guidance was poor prior to this audit. This two-cycle audit highlighted the need for improvement in the timely review and communication of histopathology reports following appendectomy at our centre. The second cycle showed promising progress, suggesting that changes implemented between the cycles had a positive impact. Nevertheless, continuous efforts may be required to enhance and sustain adherence to these vital patient safety guidelines.
PubMed: 38957822
DOI: 10.7759/cureus.58539 -
Cureus Apr 2024Invasive disease due to group A infection results in a large spectrum of clinical manifestations. In the neonatal period, the occurrence is rare and potentially...
Invasive disease due to group A infection results in a large spectrum of clinical manifestations. In the neonatal period, the occurrence is rare and potentially serious. We present a case of a term male newborn on the 9th day of life who was admitted to the emergency room with moaning and poor feeding. The patient was hemodynamically unstable needing mechanical ventilation and inotropic support. Mother and father had clinical symptoms of pharyngitis. Blood samples revealed high serum C-reactive protein and procalcitonin, leucopenia, thrombocytopenia, hyponatremia, hepatic cytolysis, and cholestasis. He started on IV ampicillin, gentamicin, and cefotaxime. Due to an abdominal distension, an ultrasound was done showing a heterogenous hepatic lobe. A color Doppler scan completed the study revealing a left hepatic thrombosis. Enoxaparin was started. The newborn's blood culture and mother's milk were positive for the same strain of group A Intravenous immunoglobulin and clindamycin were added to the treatment. On day 5 of treatment, inotropic support was ceased and extubation took place on day 6. Neonatologists should be aware of rare complications of group A infection such as thrombotic events.
PubMed: 38957821
DOI: 10.7759/cureus.58520