diagnosis

Hypercalcaemic Crisis Associated with Hyperthyroidism: A Rare and Challenging Presentation

Published on: 15th May, 2024

A 51-year-old female with a history of multinodular goitre presented with vomiting, abdominal discomfort, and generalized tiredness. Investigations revealed hypercalcemia (ionized calcium 1.41 mmol/L), hypokalaemia, suppressed parathyroid hormone, and significantly elevated free thyroxine (> 7.77 ng/dL) with a suppressed thyroid-stimulating hormone level consistent with hyperthyroidism. Further, the workup confirmed Graves’ disease as the underlying aetiology. Hyperthyroidism is occasionally associated with mild to moderate hypercalcemia, but severe hypercalcemia or hypercalcaemic crisis is an extremely rare complication. Prompt recognition and treatment are crucial to prevent life-threatening complications. The patient was treated with intravenous fluids, a low-calcium diet, zoledronic acid, carbimazole, and a beta-blocker, leading to improvement in her condition. This case highlights a rare occurrence of hypercalcaemic crisis in a patient with thyrotoxicosis due to Graves’ disease. Hyperthyroidism-induced hypercalcemia requires prompt recognition and multidisciplinary management involving endocrinologists, internists, and critical care specialists to prevent potentially life-threatening complications. Healthcare providers should consider the hypercalcaemic crisis in the differential diagnosis of hypercalcemia in the context of hyperthyroidism.
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Outcome of Patients Presenting with Peripartum Cardiomyopathy in a Tertiary Care Center of Nepal

Published on: 29th May, 2024

Purpose: Peripartum cardiomyopathy is a rare life-threatening cardiomyopathy of unknown etiology with significant maternal morbidity and mortality. It causes heart failure due to left ventricular systolic dysfunction with or without left ventricular dilatation in the last month of pregnancy up to 5 months postpartum in previously healthy women. We aimed to determine short-term outcomes of peripartum cardiomyopathy clinically as well as in terms of left ventricular systolic function and to study the clinical profile and associated risk factors.Patients and methods: A prospective observational study was carried out in the Department of Cardiology of Manmohan Cardiothoracic Vascular and Transplant Center, Institute of Medicine, Kathmandu, Nepal, from July 2018 to January 2022. All the patients with peripartum cardiomyopathy who presented to the department of cardiology were enrolled in the study and re-evaluated with echocardiography at 6 months.Results: A total of 68 women met the inclusion criteria. The mean age was 28.38 ± 5.5 years (range 19 to 44 years). The most common clinical presentation was dyspnea followed by lower limb edema. Six (8.8%) patients presented during the last month of pregnancy whereas 62 (91.2%) patients presented in the postpartum period. The mean left ventricular ejection fraction on presentation was 30.01 ± 8.54. A full recovery was observed among 60.29% at 6 months. The mortality rate was 4.41%.Conclusion: Timely diagnosis and management of peripartum cardiomyopathy with standard therapy for heart failure leads to better recovery of left ventricular systolic function.
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Successful Management of a Giant Splenic Cyst during Pregnancy: A Rare Case

Published on: 27th May, 2024

Background: Maternal splenic cyst during pregnancy appears to be a rare pathology whose treatment is not codified. The most feared complication is rupture during pregnancy. It occurs in 60% of cases in the third trimester of pregnancy, leading to significant maternal-fetal morbidity and mortality. Case report: We describe the successful management of a 24-year-old patient, G1P0, with a history of a recurrent splenic cyst. She presented with a giant splenic cyst measuring 28 cm in diameter at 30 weeks of amenorrhea. A cesarean section was performed at 37 weeks gestation. A splenectomy was performed on day 21 postpartum.Conclusion: The incidence of splenic cysts is extremely rare during pregnancy. The diagnosis must be made as early as possible to undertake appropriate treatment before the appearance of maternal-fetal complications.
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A Rare Symptomatic Case of Heterozygous Cerebro-Tendinous Xanthomatosis (CTX) Treated with Urso-Deoxycholic Acid (UDCA): With Mini Review

Published on: 27th May, 2024

Cerebrotendinous Xanthamatosis (CTX) is a rare autosomal recessive disorder caused by a mutation in the CYP27A1 gene leading to impaired metabolism of cholesterol and accumulation of cholestenol and the cholesterol in various tissues such as the brain, eyes, lungs and bones and reduced formation of cheno-deoxycholic acid (CDCA). The clinical presentation is diverse, starting in the early neonatal period and progressing till adulthood unless treated early. A common neurological manifestation is a spino-cerebellar ataxia followed by spastic paraparesis. Tendon xanthoma is a classical finding that usually helps in clinching the diagnosis but may not be present in all cases. Brain MRI also reveals characteristic abnormalities with cerebellar atrophy and hyper-intensities in the dentate nucleus and surrounding cerebellar white matter on T1weighted images. It is a rare cause of treatable ataxia in young individuals. Treatment is by replacement by CDCA or Urso-deoxycholic acid (UDCA). Supplemented with statins these individuals also have premature atherosclerosis causing death due to athero-sclerotic coronary artery disease. Here a rare case of symptomatic heterologous CYP27A1 mutation is reported with syndrome of spino-cerebellar ataxia treated with UDCA.
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Exophthalmos Revealing a Spheno Temporo Orbital Meningioma

Published on: 18th June, 2024

Intracranial meningiomas are usually non-cancerous tumors that develop from arachnoid cells in the meningeal envelope. However, there are rare forms called intraosseous meningiomas, which present unique challenges for diagnosis and treatment. In this report, we describe a rare case of a giant sphenotemporal meningioma in a 72-year-old male with diabetes. The patient experienced progressive exophthalmos and visual impairment over a period of five months. Radiological imaging confirmed the diagnosis, showing extensive infiltration into the infra-temporal region. Histopathological examination confirmed a plaque-type meningothelial meningioma. The patient underwent surgical management, which involved maxillofacial surgery. Intraosseous meningiomas are rare but are increasingly being recognized, accounting for about two percent of all meningiomas. The spheno-orbital region is a common site for these tumors. Histologically, there are various subtypes, with meningothelial meningioma being the most common. The differential diagnosis includes Paget’s disease and osteomas. The optimal treatment approach involves extensive surgical resection, followed by adjuvant radiotherapy for any remaining or symptomatic tumors. The prognosis depends on the extent of resection and tumor progression, underscoring the importance of regular monitoring. Early intervention is crucial to preserve visual function and achieve favorable outcomes.
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Percutaneous Closure of Post-myocardial Infarction Ventricular Septal Rupture-experience From a Resource-limited Setup From Eastern Part of India

Published on: 20th June, 2024

Background: Post-infarction ventricular septal rupture (VSR) is a rare but lethal mechanical complication of an acute myocardial infarction (AMI). It results in 90% - 95% mortality within two months of diagnosis without any kind of intervention. Given high surgical mortality, transcatheter closure has emerged as a potential strategy as an alternative to high-risk surgical closure. Indian data on percutaneous device closure of post-AMI-VSR is limited hence we report our resource-limited single-centre experience with different kinds of occluder devices for closure of post-AMI VSR.Methods and results: In this single-centre, retrospective, cohort study, patients who underwent transcatheter closure of post-MI VSR between 2018 and 2024 at Health World hospitals, in Durgapur, West Bengal, were included. The primary outcome was a mortality rate of 30 days. The study population was eleven primary cases of post-MI VSR. The mean age of the population was 61 years. The majority of the patients had anterior wall MI (54.5%) and the remaining had inferior wall MI.  Different kinds of devices (ASO, PostMI VSD device, Konar MFO) were used to close VSR. Successful closure was performed in 9 patients (81%) with minimal residual shunt in 2 patients. Out of 9 cases 3 patients expired, one was lost to follow up and the rest are doing well at 30 days follow-up. Conclusion: Transcatheter closure of PMIVSRs can be performed with different kinds of devices with high technical success, relatively low procedural complication rates, and 30 days survival even in a resource-limited setup as an alternative to high-risk surgical closure.
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Detecting Pneumothorax on Chest Radiograph Using Segmentation with Deep Learning

Published on: 9th July, 2024

Introduction: Pneumothorax is a life-threatening condition that requires prompt recognition and therapy to prevent deterioration. Radiologist workload often precludes rapid assessment of the usual diagnostic modality, the chest radiograph, particularly after hours. The aim was to develop a deep learning model using a segmentation-based Deep Convolutional Neural Network (DCNN) to detect pneumothorax on chest radiographs to provide rapid and accurate pneumothorax diagnosis.Methods: This is a retrospective study of spontaneous pneumothorax at a single center, containing 130 positive and 70 negative radiographs. Subsequent manual contour mapping was performed to draw a mask of the pneumothorax. These image pairs were used to train a DCNN model (a modified AlexNet) after pretraining on the ImageNet dataset.Results: The DCNN achieved an accuracy of 0.83, with sensitivity of 98.1%, and specificity of 68.5%.Conclusion: This segmentation-based DCNN accuracy is comparable to previous categorization-based CDNN models, despite using a smaller sample size for training, while including the benefits of visual representation for clinician feedback. Segmentation-based DCNNs show promise in the development of accurate and clinically useful models for medical imaging.
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Enhancing Physiotherapy Outcomes with Photobiomodulation: A Comprehensive Review

Published on: 23rd July, 2024

Physiotherapy treatments employ complex approaches tailored to the patient’s diagnosis. Exercise is the primary strategy to enhance rehabilitation processes for most individuals. However, electrophysical agents, such as Photobiomodulation (PBM), that utilize specific wavelengths of light to penetrate tissues and stimulate cellular activity, can modulate various biological processes and may improve physiotherapy outcomes. This non-invasive treatment can reduce pain and inflammation, promote tissue repair, and accelerate tissue healing. Currently, PBM has numerous applications, including pain and inflammation treatment, wound healing (such as diabetic foot ulcers, pressure ulcers, post-surgery wounds, and skin grafts in burn injuries), and the management of musculoskeletal disorders (such as arthritis, tendinopathies, muscle injuries, and spinal disorders). It is also utilized to improve muscle performance and recovery in rehabilitation and sports. Additionally, transcranial PBM has shown promise in enhancing neurorehabilitative processes by facilitating the recovery of cognitive and motor functions in various types of lesions. The safety and efficacy of this treatment allow it to be incorporated alongside regular exercises and manual therapies as an adjunctive treatment, potentially enhancing outcomes in different areas of rehabilitation.
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Sinonasal Myxoma Extending into the Orbit in a 4-Year Old: A Case Presentation

Published on: 30th July, 2024

Background: Sinonasal myxomas are exceptionally rare benign tumors in pediatric patients. This report presents the case of a 4-year-old boy diagnosed with a sinonasal myxoma extending into the right orbit.Case presentation: The patient’s clinical presentation included moderate-angle esotropia and ocular torticollis. Advanced imaging revealed an expansile lesion in the right posterior ethmoid cavity with orbital involvement. The differential diagnosis considered included malignancies such as rhabdomyosarcoma and lymphoma, as well as benign neoplasms and inflammatory changes. A biopsy confirmed the diagnosis of sinonasal myxoma. The patient underwent a wide local resection performed by a multidisciplinary team, leading to a confirmed histopathological diagnosis of sinonasal myxoma.Conclusion: This case highlights the diagnostic challenges and the importance of thorough clinical and radiologic evaluation in pediatric patients with unusual ocular symptoms. The report underscores the need for a multidisciplinary approach in managing rare neoplasms such as sinonasal myxomas.
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Single Coronary Artery Associated with an Arteriovenous Communication: An Incremental Diagnostic Value of Coronary CTA

Published on: 12th August, 2024

Single coronary artery and coronary arteriovenous communication are rare congenital cardiac anomalies with potentially harmful effects, making the diagnosis essential for the appropriate management. The coexistence of these two anomalies is exceptional. We present a case illustrating the diagnostic power of Coronary CTA in depicting this unusual combination.
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Seminal Extracellular Traps in SARS-CoV-2 Infection

Published on: 19th August, 2024

Introduction: Extracellular Traps (ETs) are fibers composed of chromatin and cytoplasmic proteins, which can trap and kill pathogens by the phenomenon called ETosis. They are released by neutrophils, macrophages, and monocytes, and can be found in semen. The aim of this presentation is to evidence of the indirect effect of SARS-CoV-2 in semen by ETs.Patients and methods: Experimental design: retrospective descriptive observational study.Semen samples from two groups were studied following WHO guidelines: 1) SARS-CoV-2 infected donors (n: 5; at 7, 15, 30, 60, and 90 days after PCR diagnosis); 2) COVID-19 positive patients assisted in our laboratory between 2021 and 2022 (n: 70). They were observed in fresh and in Papanicolaou-stained smears by CASA and light microscopy; the presence of macrophages, spermiophages, ETs and hyperviscosity were recorded while neutrophilic concentration was calculated. Two control groups were designed: a) Patients belonging to group 2, studied before de pandemia (n: 13); b) Culture-negative semen samples (n: 28).Results: In the first group, ETs were observed in all the samples, while only 18% had leucospermia. Macrophages, spermiophages, and hyperviscosity were recorded in 68%, 27%, and 36% of the studied cases respectively.In the second group, ETs were present 100% in the acute phase (< 90 days after diagnosis) and decreased to 71% in the later stage (90 to 270 days). The trapped sperm were non-progressive motile or immotile alive or dead.No traps were found in either control group.Conclusion: In our study ETs were the most sensitive seminal marker of SARS-CoV-2 infection.
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Clinical Case of Successful Therapy for the Patient with Autism by use of Fetal Stem Cells

Published on: 19th August, 2024

More than 60 million persons all over the world are living with the diagnosis of “Autism”, in accordance with the UNO. According to the WHO, almost every hundredth child is a sufferer of ASD. Such figures emphasize globalization of the problem, and its impact not only on the child’s family but also on the economies of entire countries.Autism diagnosis is difficult and based on the general symptoms in kids. Today, the neuroimaging techniques (methods of functional Magnetic Resonance Imaging (MRI) and MRI tractography), Electroencephalography (EEG), evoked cognitive potentials and dynamic monitoring of the results help with an objective evaluation of stem cell therapy.Treatment options in modern pharmacology and rehabilitation psychotherapy for ASD kids are limited. Therapy methods do not ensure a full integration into social life and personality awareness. To alleviate likely problems in society, different therapeutic approaches exist that might reduce the manifestation of the various autism symptoms. FSC therapy is one such innovative method that has recently become enough popular.We inform about the clinical case of successful treatment using fetal stem cells for a child with autism followed by the period of 1-year follow-up showing significant clinical results. Over one year, the positive changes that had been proved by the ATEC questionnaire, the EEG results, and MRI-tractography were noted by the patient’s family. As emphasized in the clinical case report, fetal stem cell  therapy is a promising and efficient treatment for children with autism. All that was sufficiently confirmed by the results acquired because we saw an overall improvement in this patient.
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Durable Response to Pembrolizumab and Lenvatinib in a Patient with Chemotherapy-refractory Cholangiocarcinoma

Published on: 18th July, 2024

Cholangiocarcinoma (CCA), a rare malignancy originating from bile duct epithelial cells, often presents a challenging prognosis due to its rarity, delayed diagnosis, and early recurrence post-curative-intent treatments. Additional complexities include difficulties in achieving R0 resection during surgical intervention and the lack of effective second-line treatments following the failure of first-line regimens, particularly in unresectable advanced cases.In this case study, we demonstrate a durable response to a combination regimen of pembrolizumab and lenvatinib in a patient with distal CCA. Despite the regimen’s interim median Progression-Free Survival (PFS) of 6.1 months (95% CI, 2.1-6.4), our patient achieved a clinical and radiological PFS of approximately two years. The underlying mechanisms, potentially involving the upregulation of immune response pathways through undisclosed means or influenced by lenvatinib’s activation of T cells, might augment the sensitivity to PD-1 antibodies like pembrolizumab, contributing to the patient’s sustained response over two years.This case also highlights the significance of the patient’s initial good health condition, multidisciplinary care, and the potential impact of molecular subtyping on treatment selection in a patient with distal CCA who underwent numerous diagnostic procedures, intricate surgical interventions, and subsequent treatment regimens over seven years. Additionally, we underscore significant landmark trials and emerging combination therapies, including chemotherapies, immunotherapy, and targeted treatments in this report.
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Resolution of Chronic Bacterial Prostatitis with Bacteriophage-antibiotic Therapy

Published on: 22nd August, 2024

Chronic bacterial prostatitis is a commonly diagnosed genitourinary infection that presents significant challenges both in diagnosis and treatment. In an upcoming era of antibiotic resistance, and limited therapeutic options it becomes imperative to revise current guidelines and to provide more effective treatment strategies. At the Eliava Phage Therapy Center (Tbilisi, Georgia) we utilize bacteriophage therapy as an alternative approach against chronic bacterial infections. Bacteriophages, viruses that target and lyse specific bacterial cells, can be used as a stand-alone treatment or in conjunction with antibiotics. We present a case report of a patient with prostatitis caused by Escherichia coli infection, who prior to addressing our clinic, has been receiving antibiotic therapy without any positive effect. Our approach of combined use of antibiotics and phages was successful not only in complete clinical improvement but also in total bacterial eradication. This outcome shows the potential of bacteriophage therapy as a valuable adjunct to conventional antibacterials in the management of prostatitis.
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Contrast Echocardiography for the Detection of a Giant Right Coronary Artery Aneurysm: A Useful Diagnostic Tool

Published on: 22nd August, 2024

Coronary artery aneurysm is an uncommon condition defined as abnormal dilatation of the coronary artery.We report the case of a man admitted to the Emergency Department for suspected intestinal obstruction. At abdominal/thoracic Computed Tomography (CT) it was reported a suspected pericardial cyst. Contrast echocardiography showed a clear pattern of blood flow inside the mass with a probable origin at a very limited region where it was also possible to sample an ECG-synchronized system-diastolic Pulse-Wave (PW)-Doppler pattern, typical for a coronary artery flow. Our suspicion of a giant coronary artery aneurysm was then confirmed by coronary CT and coronary angiography. The patient was transferred to a Cardiac Surgery center where he underwent surgical treatment for the aneurysm.Most coronary aneurysms are clinically silent and are often incidentally detected. Coronary angiography is the ‘‘gold standard’’ for diagnosis and evaluation of coronary artery aneurysms. Among non-invasive diagnostic techniques, Computed Tomography Coronary Angiography is the best method for coronary artery anatomy and coronary abnormalities. However, echocardiography with the use of a contrast agent, a cost-effective non-radiation nature, and a widespread use method, maybe a reliable method to detect and characterize the masses, allowing a differential diagnosis.Learning objective1.    Recognition and evaluation of cardiac masses require first-line imaging methods such as echocardiography.2.    The use of additional non-invasive (cardiac CT or MRI) and/or invasive imaging methods are often required. 3.    Contrast echocardiography may be helpful, as second-line imaging methods, to better characterize the mass and approach the correct diagnosis.
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Prescribing Inertia or Not? Quantitative Investigation of Loop Diuretics Prescribing after Palliative Care Consultation among Patients with Heart Failure

Published on: 27th August, 2024

Purpose: Loop Diuretics (LD) are the first-line pharmacotherapy to address Heart Failure (HF)-associated edema and dyspnea. However, LD causes frequent urinary, resulting in inconvenience and possibly undermining the quality of life. While prescription adjustment is an essential part of Palliative Care Consultation (PCC), it remains unclear how PCC affects the deprescribing of diuretics for adults with HF. Methods: We conducted a pre-post analysis of the percentage of HF patients who were prescribed LD in a national Electronic Health Record (EHR) database 12 months before and after the first PCC. The difference in prescription rates between the periods was determined. Adjusted associations of post-PCC LD prescription with pre-PCC LD prescription and patient’s characteristics, insurance, provider type, and clinical factors were quantified.Results: From 2010 to 2018, 5,969 patients with newly diagnosed HF received at least one PCC, among whom 2,539 (42.5%) were prescribed LD before and 1,552 (26.0%) after their first PCC. Despite a decrease in LD prescription rate encompassing the date of PCC, post-PCC LD prescribing was strongly associated with pre-PCC prescribing (aOR[95%CI] 3.2[2.8,3.7]) and varied by age at first PCC, year of HF diagnosis (aOR[95%CI] 2.1[1.9,2.4]) and months from HF diagnosis to first PCC. While our finding demonstrates reduced polypharmacy associated with PCC, the strong association between pre- and post-PCC indicates reverse therapeutic inertia. Future research should investigate the benefits and costs of polypharmacy among specific patient groups to help develop personalized treatment for HF.
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Development of a Web-based Tomato Plant Disease Detection and Diagnosis System using Transfer Learning Techniques

Published on: 13th September, 2024

A significant obstacle to agricultural productivity that jeopardizes the availability of food is crop diseases and farmer livelihoods by reducing crop yields. Traditional visual assessment methods for disease diagnosis are effective but complex, often requiring expert observers. Recent advancements in deep learning indicate the potential for increasing accuracy and automating disease identification. Developing accessible diagnostic tools, such as web applications leveraging CNNs, can provide farmers with efficient and accurate disease identification, especially in regions with limited access to advanced diagnostic technologies. The main goal is to develop a productive system that can recognize tomato plant diseases. The model was trained on a collection of images of healthy and damaged tomato leaves from PlantVillage using transfer learning techniques. The images from the dataset were cleansed by resizing them from 256 × 256 to 224 × 224 to match the dimensions used in pre-trained models using min-max normalization. An evaluation of VGG16, VGG19, and DenseNet121 models based on performance accuracy and loss value for 7 categories of tomatoes guided the selection of the most effective model for practical application. VGG16 achieved 84.54% accuracy, VGG19 achieved 84.62%, and DenseNet121 achieved 98.28%, making DenseNet121 the chosen model due to its highest performance accuracy. The web application development based on the DenseNet121 architecture was integrated using the Django web framework, which is built on Python. This enables real-time disease diagnosis for uploaded images of tomato leaves. The proposed system allows early detection and diagnosis of tomato plant diseases, helping to mitigate crop losses. This supports sustainable farming practices and increases agricultural productivity.
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Ciliated Hepatic Cyst: Report of a Case and Review of the Literature

Published on: 23rd September, 2024

The ciliated hepatic cyst of the anterior intestine is a less frequent benign entity that arises from the alteration in the migration of embryological remains. Most of them are found in the left lobe of the liver, especially in segment IV. Its wall is covered by a pseudostratified ciliated columnar epithelium, a layer of connective tissue, smooth muscle, and a surrounding fibrous outer layer. We present the case of a 61-year-old man who, in the context of a scheduled admission for drainage of an intraabdominal abscess, was incidentally discovered to have a hepatic lesion of cystic aspect. The anatomopathological diagnosis was that of a ciliated hepatic cyst. Due to its low frequency in clinical practice (in part due to its incidental character), a review of the case and a review in the literature of the peculiarities of said entity are proposed.
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An Appraisal of Recurrent Miscarriage in Sub-Saharan Africa: Occurrence and Possible Solution

Published on: 10th October, 2024

A recurrent miscarriage may be defined in the African context as the foetal demise of two or more successive pregnancies before the attainment of the age of viability. A literature review was done to assess the trend of recurrent miscarriage in sub-Saharan Africa. Identifying the main causes, considering the population at risk, and the availability of accurate diagnostic utilities to effectively ensure good management of recurrent miscarriage is an important gynaecologic issue. Over the years, studies have identified several etiologies and yet there’s been no tangible implementation of therapeutic strategies. Routine modifications should also be employed to develop new approaches to reproductive prognosis. There is notably scanty information on the cases of spontaneous abortion due to chromosomal abnormalities. Genetic and immunological factors should be considered in the work-up plan for women with RM. About 70% of the cases of RM are considered unexplained, and this may be due to limited resources. We concluded that there is relatively poor management of miscarriage and cases of missed and inaccurate diagnosis of the causes of spontaneous abortion in sub-Saharan Africa. More studies are needed in order to assess the extent of genetic induced miscarriage, where resources are limited, folic acid supplements should be provided for pregnant women.
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A Rare Case of Cutaneuos Angioleiomyoma: A Case Report

Published on: 17th October, 2024

Cutaneous Angioleiomyoma is a very rare benign tumour of which incidence is unknown. We report a case of a 42-year-old male patient who presented with a symptomless solitary nodule over the left nostril for one and a half years duration. Complete surgical excision of the tumour was done and the sample was sent for histopathological examination. Diagnosis of this tumour was done on the evidence of histopathological examination with haematoxylin and eosin mounts. Sometimes achieving the best aesthetically accepted results may be challenging due to the site of involvement. 
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