Unusual Cases Research Articles

Genome Editing and Human Reproduction: The Therapeutic Fallacy and the "Most Unusual Case".

In the current agon between those promoting and opposing the development of human reproductive applications of genome editing techniques, the bone of contention is often whether the prospective reproductive technologies answer an "unmet medical need." Proponents often point to highly unusual cases of inherited genetic conditions as exhibiting that need. This essay argues that we ought to admit that the opponents are correct: human reproductive genome editing cannot be justified on medical grounds. Taking a deliberately provocative line, the essay suggests how inscribing such practices within a conventional model of biomedical research fails to take proper account of the interrelated interests in play, including those of the wider society and its future members. It also obscures important questions about how the public significance and value of human genome editing are produced through the dynamic encounter between science, technology, and social morality. This has certain discomfiting implications that will require both courage and humility to confront and-finally, perhaps-to embrace.

Vertebral hemangiomas: A report of two unusual cases and a review of literature

Vertebral hemangiomas are among the most common benign lesions of the spine, with an incidence of 10%–12% in the adult population. Vertebral hemangiomas have been reported in all age groups with most prevalence in the fifth decade of life. A small proportion of the lesions (1%) may cause neurological symptoms ranging from pain to full-fledged paraplegia. Since most of the vertebral hemangiomas are asymptomatic and quiescent, no treatment is required. Treatment is to be considered only if there is back pain or neurological symptoms due to vertebral fracture or spinal cord/root compression. Because these active and symptomatic types of vertebral hemangiomas are a rare occurrence, their treatment modalities remain controversial and hence problematic. Since most of the patients are treated by a combination of modalities, the analysis of the efficacy of each treatment is difficult to assess and hence the apt choice of treatment is still controversial.

Is It All About You or Your Driving? Designing IoT-Enabled Risk Assessments

Risk assessments have been critical missions for all kinds of operations management. Disruptive applications are developed to assess risks more precisely with the adoption of advanced technologies. Such a paradigm shift is ongoing in various industries, especially the auto insurance business. Contrasted with a common practice mainly based on static demographics, the mobility-based risk assessment predicts risks using dynamic driving data obtained via IoT-enabled telematics. This study proposes a novel solution to learn about drivers’ risks. We specifically consider two aspects of mobility, namely trait and trajectory, monitored by GPS, on-board diagnostics, and in-vehicle cameras in a real-time manner. Traits refer to the distinctive driving behaviors (styles) of drivers, while trajectories consist of the vehicle motion sequences along with the contextual factors on trips. We select the features extracted from the two to optimize a predictive model that assesses risks at both trip and driver levels. Using the fine-granular driving data and crash reports, we find that behavioral traits play a significant role in predicting crashes. We also notice that the risks of drivers are heterogeneous and could evolve over time. In a series of empirical experiments, the proposed solution outperforms the current practice and the alternative methods considered by prior literature. We show that the mobility-based models are consistently superior to demographic-based ones commonly adopted by practitioners. Quantitatively, our approach improves recall (precision) of logistic regression, support vector machine, and random forests by 43.45% (41.82%), 29.46% (27.87%), and 26.24% (25.27%), respectively. Last, the proposed solution is more robust and computationally efficient to unusual use cases (i.e., skewed and small training samples). The findings provide several managerial implications and a blueprint for the auto insurance industry to operationalize IoT-enabled risk assessments in the coming era of 5G communication.

Unusual Suicide Cases of Asphyxiation by Ligature within the Vehicle

Unusual Suicide Cases of Asphyxiation by Ligature within the Vehicle

Revascularization in Mönckeberg medial calcific sclerosis

Mönckeberg medial calcific sclerosis (MMS) is a rare disorder of medial calcification for which open repair has always been the standard. We present two unusual cases of MMS affecting different arterial segments, for which bypass was done. The first patient presented with extensive aortoiliac medial calcification. She had a near normal ankle brachial index on one side and critical limb ischemia on the other. A femorofemoral crossover bypass was carried out. The patient improved symptomatically. The second case involved a femoropopliteal segment Mönckeberg sclerosis for which a femoro-distal bypass was carried out. Both patients continue to remain asymptomatic after 2 years of follow-up. Open surgical repair remains the ideal method of repair in this rare condition of medial calcific sclerosis. The disease progression is very slow in these patients, and usually one segment of artery is involved.

Surgical Management of Herniated Intrathoracic Gastric Perforation in Traumatic Diaphragmatic Rupture: An Unusual Two Rare Cases

Gastric perforation into the thoracic cavity through a diaphragmatic rupture is rare but, when it occurs, patients present in severe distress, with mortality approaching 50%. We present our experience of two rare and unusual cases of traumatic diaphragmatic rupture from penetrating chest injury associated with herniated intrathoracic gastric perforation over a five-year period from January 2015 to December 2020 at the cardiovascular and thoracic surgery department of the Komfo Anokye Teaching Hospital in Kumasi, Ghana. Both patients underwent successful surgical repair through standard posterolateral thoracotomy with one having earlier negative exploratory laparotomy. The essence of the paper is to share and discuss the clinical presentation, diagnostic challenges, surgical management and the postoperative care of this very rare complication of traumatic diaphragmatic rupture.

Aneurysmal bone cyst: With uncommon location and presentation – A case series with review of literature

Aneurysmal bone cyst (ABC) is a expansile osteolytic bone lesion of unknown aetiology. These lesions are usually present in the long bones, particularly the humerus, femur, tibia, and fibula and are composed of blood-filled cavities with the female predominance. ABC is differentiated into two variants such as primary and secondary. Primary ABC arises de novo, whereas secondary arises in association with some pathology. Here, we are presenting three unusual cases of ABC; two cases were reported here because of their rare locations such as talus and ulna, whereas the last case was of giant cell tumor with secondary ABC.

Two unusual causes of peptic anastomotic ulcer

Two unusual cases of anastomotic ulcer complicated by bleeding after gastric resection are reported. There were retained antrum in one patient and long 'dry' intestinal loop after laparoscopic Roux resection in another one. Emergency gastric stump resection with Haberer procedure were successfully performed in both cases.

Idiopathic Colitis after Bilio-Pancreatic Diversion: A Report of Two Cases and a Review of the Literature

A clear consequence of the operation is fat and bile acid malabsorption, and possibly carbohydrate malabsorption. As a result, it is reasonable to think that BPD patients may have altered microbiota in their colons, and that secondary to these changes, some changes in the immunologic functions in the colon can occur, rendering it more susceptible to insults. Here we report two unusual cases of unexplained colitis occurring in two female patients who underwent BPD.

Study of various Anatomical and Pathological Parameters using Computed Tomography in Sino-Nasal Disease-a 1-year Hospital-based Observation Study

MJCRS is aimed to encourage the publication of the latest information by providing a platform of writing distinctive, rare and unusual cases that augment our understanding of disease process and its diagnosis, supervision and clinico-pathologic connections.

Two extremely rare cases of extrapleural hematoma

BackgroundExtrapleural hematoma is uncommon. However, according to the size of hematoma and/or the progression of anemia, surgical treatment to control bleeding might be necessary because a huge hematoma can cause ventilator and circulatory disturbances to press heart and lung. We present two unusual cases of huge extrapleural hematoma in an anticoagulated patient with no apparent history of trauma or otherwise traumatic episodes.Case presentationCase 1: A 78-year-old man presented to our emergency department with pain in his right shoulder and disturbance of consciousness. He had no apparent history of trauma. Computed tomography (CT) of the chest revealed the presence of a huge lens-like encapsulated lesion measuring 220 × 90 mm in the right thoracic cavity. These findings all supported a diagnosis of extrapleural hematoma with hemothorax. Case 2: A 73-year-old man was brought to our hospital by ambulance after bruising his back in his house. CT of the chest revealed the presence of a huge lens-like encapsulated lesion measuring 230 × 70 mm in the left thoracic cavity. Hemorrhagic effusion was obtained by thoracocentesis, and the lesion was suspected of being a hematoma. In both two cases, we performed video-assisted thoracic surgery (VATS), which was minimally invasive and effective. These two patients were cured and discharged smoothly after surgery.ConclusionsWe reported two rare cases of extrapleural hematoma. This disease requires close attention when it manifests in patients undergoing anticoagulation therapy. Regarding treatment, VATS was particularly effective in these cases.

Dual Pathology in a Single Nasal Cavity-A Clinical Case Report

MJCRS is aimed to encourage the publication of the latest information by providing a platform of writing distinctive, rare and unusual cases that augment our understanding of disease process and its diagnosis, supervision and clinico-pathologic connections.

Variations in Intranasal Anatomical Parameters and Its Association with Rhinosinusitis – a One Year Hospital based Observational Study

MJCRS is aimed to encourage the publication of the latest information by providing a platform of writing distinctive, rare and unusual cases that augment our understanding of disease process and its diagnosis, supervision and clinico-pathologic connections.

First results on diet and mobility of the agropastoral societies of western Catamarca, Argentina

In this paper, we carry out an isotopic study to learn about the diet and mobility patterns of the human groups that inhabited different areas and environments of western Catamarca, Argentina, over almost 2500 years. We present and discuss the results of the isotopic composition of 26 bioarchaeological remains (δ13C and δ15N on bone collagen, and δ13C and δ18O on bone apatite) with their respective calibrated absolute dates, from different settings and elevations of the province of Catamarca. They account for the sociocultural development of both the first agropastoral village societies and the Inca society. We also present the regional isotopic context of autochthonous animal and plant food resources. The isotopic composition (δ13C and δ15N on bone collagen) of 47 samples of pre-Hispanic camelids recovered from archaeological sites located at different altitudes of the Fiambalá and Chaschuil regions are studied and discussed. In addition, the δ13C values of 52 native modern and archaeological plant samples are compiled, including samples from the region as well as information from the bibliography. Finally, isotopic analyses of water samples (δ18O) recovered from different environments in the study region are also shown. The data from δ13C and δ15N on bone collagen and δ13C on bone apatite show a high variability of the human diet of the populations of western Catamarca, and suggest that the societies that inhabited the region during the first millennium AD had a balanced diet that combined proteins and carbohydrates, while those dated after the thirteenth century AD reduced their protein intake, which would have significantly affected their health status. The first trends in the δ18O values indicate that individuals had low mobility patterns during their lives, except for some unusual cases of possible non-local individuals.

Polymorphism of TNF-α as a Biomarker of Diabetic Nephropathy in patients of Telangana Region

MJCRS is aimed to encourage the publication of the latest information by providing a platform of writing distinctive, rare and unusual cases that augment our understanding of disease process and its diagnosis, supervision and clinico-pathologic connections.

CONSERVATIVE MANAGEMENT OF SIGNIFICANT EXTRA-DURAL HAEMATOMA : CASES AND LITERATURE REVIEW

OBJECTIVE: Study of natural history of significant extra dural haematoma resolution. BACKGROUND: Traumatic brain injury is one of the leading causes of death. There are various modes of injury like road traffic accident, assault, fall and others.The traumatic brain injury can range from scalp laceration to intracranial haemorrhage.The line of management is decided upon considering several factors like age, co morbidities, Glasgow coma scale neurodeficiency,CT scan findings,other associated injury. CASE REPORT: A 24-year-old gentleman sustained head injury following road traffic accident. CT scan (head) was suggestive of extradural haematoma.Patient was subjected to decompressive craniotomy and evacuation of extra dural haematoma. On 2nd post-operative day, CT Scan (head) was done which was suggestive of right frontal and right posterior parietal extra dural haematoma. The relatives did not give consent for surgery .Conservative management was done. Patient improved and haematoma resolved. A 42 year old male presented to the emergency with history of head injury . CT Scan was suggestive of extra dural haematoma. Conservative management was done as surgery was refused by the relatives.Patient was monitored.Patient was asymptomatic after discharge and during follow up period. CONCLUSION:We report two unusual cases of extradural haematoma with a good outcome and uneventful follow up period.

Outcome of Atypical Presentations of Hairy Cell Leukemia

Hairy cell leukemia (HCL) is a distinctchronic lymphoproliferative disorder that accounts for 2% of all adult leukemias. The median age at the time of diagnosis is 52 years with a male to female ratio of 4:1. Hairy cell leukemia predominantlycharacterized by infiltration of peripheral blood, bone marrow, and spleen by malignant cells with prominent irregular cytoplasmic projections, namely, "hairy cells". HCL patients may be asymptomatic or develop symptoms of cytopenia, particularly infections . The exact prevalence of atypical presentation of HCL is difficult to be determined because most cases were published as incidental reports. The classical presentation of Hairy cell leukaemia includes splenomegaly (80-90%), pancytopenia (60-80%) and hepatomegaly (40-50%), however, the same may not be true in the clinical settings. As hairy cell leukemia may present with a wide range of atypical organ involvements which could result in a diagnostic dilemma. The aim of this literature review is to highlight non- classical presentations of HCL and the importance to have high index of suspicion to consider a diagnosis of HCL based on histomorphological features even in the absence of classical clinical features. Method: We searched the medline database (PubMed), GoogleScholar from1985 until 2018 with the following search terms: atypical presentation of hairy cell leukemia ,unusual cases of hairy cell leukemia,unique hairy cell leukemia presentation. Result: A total of 21 cases were found, with age range from (29-88),5 cases were female and the rest were males. Skeletal involvement was the most common presentation with osteolytic bone lesion. Majority of the patients were treated with Cladribine,13/21 showed complete remission. Discussion: HCL is an indolent disorder of B-cell origin that accounts for 2% of all forms of leukemia and 8% of lymphoproliferative diseases. In our literature review we looked up the unique presentations, which Most of the reported cases we found involved the skeleton in the form of pathological fracture and osteolytic lesion. Serositis, in the form of massive ascites and pleural effusion has been reported. Additionally, Cases of central nervous system involvement and presentation at young age were observed. Due to rarity of the disease and no established treatment modality for unusual organ involvement, standard treatment with Cladribine result in complete remission in 61% of the observed cases. Conclusion: While Classical presentation of hairy cell leukemia is well described in the literature. atypical presentation is still rare but with diverse presentation. most of the cases reviewed in the literature were middle age males, majority had good response to treatment, while the rest had disease progression . rare pretension of Hairy cell leukemia despite being rare should always be considered ,particularly in cases of pathological fractures or unexplained serositis. Table Disclosures No relevant conflicts of interest to declare.

Perioperative management of Wilms’ tumor with intracardiac extension: Report of two cases with review of literature

Wilms’ tumor (WT) is one of the solid tumor that affects children. It involves the kidney and may extend to the lungs and liver. WT conquers the adjacent blood vessels such as renal veins and inferior vena cava (IVC); its extension to IVC and right-sided heart chambers is unusual. Furthermore, when the tumor extends to heart chambers, its surgical management becomes challenging and demands multidisciplinary medical and surgical specialties including pediatric cardiac surgery. In this report, we discuss the surgical management and perioperative treatment of two unusual cases of WT with IVC and intracardiac extension.

Unusual Cases of Hairy Cell Leukemia With Uncommon Immunophenotypes: A Diagnostic Challenge

Abstract Hairy cell leukemia (HCL) is a rare indolent B-cell neoplasm with distinct morphologic and immunophenotypic features. Immunophenotypically, the neoplastic cells in HCL are strongly positive for B-cell markers, such as CD19, CD20, and CD22. They also characteristically express CD11c, CD25, CD103, and CD123, but lack CD5, CD10, and CD23. Uncommon immunophenotypes of HCL can pose diagnostic challenges. Here, we report 2 unusual cases of CD5-positive and CD10-positive HCL.

OCCUPATIONAL POLYNEUROPATHY. MODERN OUTLOOK OF THE PROBLEM IN RUSSIA AND ABROAD. REVIEW

The article offers an analysis of up-to-date information about the occupational polyneuropathy in domestic and foreign scientific literature. Information search for the occupational polyneuropathy in Russian and foreign scientific literature, analysis of Russian and international approaches to the understanding of this occupational pathology. Review of acceptable scientific Russian and foreign literary sources from the open database PubMed and RSCI (Russian Science Citation Index). In the foreign scientific literature, there are no any mentions about polyneuropathy as an independent occupational pathology. Only items of information about unusual cases in clinical practice are presented. At the same time in Russia, this disease is well known, the criteria of its diagnosis are sufficiently investigated. Russian and foreign researchers point out the specificity of the observed changes in the peripheral nerves of the upper extremities occurring in workers engaged in heavy physical labor. Currently, in Russia, this pathology is diagnosed quite often. Conclusion. Professional polyneuropathy of upper extremities caused by physical overload is a common occupational disease. In Russia it has been studied for a long time, it is often diagnosed, but it is practically unknown abroad. An interdisciplinary approach is necessary for the early detection, treatment of the disease and the removal of workers from contact with physical overload. The successful development of modern occupational pathology depends on the exchange of experience and collected information.