-
Diagnostics (Basel, Switzerland) Apr 2024In light of falling global autopsy rates, one of the causes of which is the resulting body disfigurement, it has become crucial to search for new, minimally invasive...
In light of falling global autopsy rates, one of the causes of which is the resulting body disfigurement, it has become crucial to search for new, minimally invasive post-mortem diagnostic tools. One of these methods is videoautopsy, a minimally invasive autopsy technique using endoscopic methods. In the years 2020-2023, 15 videoautopsies were conducted at the Department of Forensic Medicine of the Poznan University of Medical Sciences in order to determine the usefulness of the method in forensic approaches. Each post-mortem examination included laparoscopy and thoracoscopy, followed by a classic autopsy to assess the effectiveness of the method. In total, the endoscopic examination allowed for determining the cause of death in 53.3% of cases, and when the cause of death was located in the abdominal cavity or chest, the percentage increased to 80%. Traumatic lesions had good recognition efficiency. In addition, it was also possible to collect material for histopathological and toxicological tests. Retroperitoneal organs were difficult to assess. The main limitation of the method is the inability to assess the inside of the skull and the structures of the central nervous system. Videoautopsy may become an important tool in post-mortem diagnostics and in forensic cases, especially when the alternative is to not perform an autopsy. Further research is necessary to standardise the examination protocol, optimise the instrumentation, and assess the potential synergistic effect with other methods of minimally and non-invasive post-mortem examination.
PubMed: 38732299
DOI: 10.3390/diagnostics14090884 -
PLoS Neglected Tropical Diseases May 2024Mycetoma is a serious, destructive, disfiguring chronic granulomatous inflammatory disease affecting the subcutaneous tissues that spread to involve the skin, deep...
Mycetoma is a serious, destructive, disfiguring chronic granulomatous inflammatory disease affecting the subcutaneous tissues that spread to involve the skin, deep tissues and bone. The disease predominately affects the limbs, and extrapedal mycetoma is rarely reported. The reported extrapedal ones are characterised by high morbidity and mortality. This communication reports on 420 patients with extrapedal mycetoma seen and managed at the Mycetoma Research Centre (MRC), University of Khartoum, between January 1991 and December 2021. In this descriptive, cross-sectional, hospital-based study, the electronic records of all mycetoma-confirmed patients seen during the study period were carefully and meticulously reviewed. The confirmed patients with extrapedal mycetoma were included in this study. The study included 420 patients with extrapedal mycetoma, 298 (70.7%) had eumycetoma, and 122 (29.3%) had actinomycetoma. There were 343 male patients (81.7%) and 77 (18.3%) females, with a male-to-female ratio of 4:1. Their ages ranged between 1.5 and 95 years, with a median of 28 years. Most of the patients were students and farmers. The majority of patients were from El Gezira, North Kordofan, and the White Nile States. Mycetoma was painful in 21%, and a family history of mycetoma was recorded in 11.5% of patients. The buttocks (37.9%) and head and neck (16.9%) were affected most. Less frequently affected sites were the trunk and back (12%) each, abdominal and chest walls (4.5%) each and loin (1%). The prominent clinical presentation findings were multiple sinuses discharging grains (55%), massive swellings (46%), and lymphadenopathy (11.5%). Less commonly observed clinical findings were local hyperhidrosis (5.3%) and dilated tortuous veins close to mycetoma lesions (0.5%). The study showed that 204 patients (48.6%) had clinical improvement in terms of decreased lesion size and healing of sinuses following medical therapy. Sixty-six patients (15.7%) had no noticeable improvement. The lesion continued progressing despite treatment in 44 patients (10.5%). In the study, 118 patients were on regular follow-up, and in this group, a cure was documented in 25 patients (21.1%) with eumycetoma and 23 (19.4%) with actinomycetoma. Post-operative recurrence among eumycetoma patients was 40%, with a 1% mortality rate. The treatment outcome was unsatisfactory, characterised by a low cure rate, high recurrence (40%) and follow-up dropout (57%) rates. This emphasises the importance of early case detection and management, objective health education programmes and thorough patient counselling to urge people to seek treatment early and reduce dropouts.
Topics: Humans; Mycetoma; Male; Female; Adult; Middle Aged; Adolescent; Child; Young Adult; Cross-Sectional Studies; Child, Preschool; Aged; Infant; Aged, 80 and over; Antifungal Agents
PubMed: 38728359
DOI: 10.1371/journal.pntd.0011841 -
Aging May 2024Thyroid-associated ophthalmopathy (TAO) is the most prevalent orbital disease in adults caused by an autoimmune disorder, which can lead to disfigurement and vision...
Thyroid-associated ophthalmopathy (TAO) is the most prevalent orbital disease in adults caused by an autoimmune disorder, which can lead to disfigurement and vision impairment. Developing effective treatments for this condition presents challenges due to our limited understanding of its underlying immune aberrations. In this study, we profiled the immune components in the peripheral blood of patients with TAO as well as healthy individuals, utilizing single-cell RNA sequencing and B-cell receptor repertoires (BCR) analysis. We observed a significant reduction in the proportions of regulatory B cells (Bregs) and type 2 conventional dendritic cells (DCs) in patients with TAO during the active phase. Conversely, there was a significant increase in the proportion of type 1 DCs. Further analysis of cell differentiation trajectory revealed potential impairment in the transition of B cells towards Breg phenotype during the active phase of TAO. Besides, the activation process of TAO appeared to involve inflammation and immune dysfunction, as indicated by the dynamic changes in the activities of key regulators. The abnormalities in the peripheral immune system, such as the reduced capacity of Bregs to suppress inflammation, were primarily driven by the enhanced interaction among Breg, DCs, and monocytes (i.e., CD22-PTPRC and BTLA-TNFRSF14). Collectively, our findings offer a comprehensive insight into the molecular regulation and cellular reconfiguration during the active phase of TAO at the single-cell level, in order to explore the pathogenesis of TAO and provide new ideas for the future treatment of TAO.
Topics: Humans; Graves Ophthalmopathy; Single-Cell Analysis; Gene Expression Profiling; Female; Middle Aged; Male; Receptors, Antigen, B-Cell; Dendritic Cells; Adult; Transcriptome; B-Lymphocytes, Regulatory
PubMed: 38728262
DOI: 10.18632/aging.205814 -
Nigerian Journal of Clinical Practice Apr 2024Orofacial cysts are pathologic cavities that could be symptomatic and may cause facial disfigurement. The only epidemiologic report of such lesions in Southeast Nigeria...
BACKGROUND
Orofacial cysts are pathologic cavities that could be symptomatic and may cause facial disfigurement. The only epidemiologic report of such lesions in Southeast Nigeria studied jaw cysts from 1987 to 1996. New studies reflecting recent research findings and classifications on the subject in Southeast Nigeria are lacking.
AIM
To determine the prevalence and distribution of orofacial cysts in a tertiary hospital in Enugu, Southeast Nigeria.
METHODS
A 10-year retrospective study of patients with orofacial cysts diagnosed by histology was carried out.
RESULTS
Orofacial cysts constitute 9.5% (85) of 897 orofacial lesions identified. The male-to-female gender ratio was 1.2:1. The mean age (± standard deviation) at the onset of the cystic lesion was 28.58 (±16.98) years. Developmental odontogenic cysts 52.9% (45) and salivary cysts 18.8% (16) were the most common group of orofacial cysts. The most prevalent orofacial cysts were odontogenic keratocysts at 25.9% (22), mucoceles 16.5% (14), and dentigerous cysts 14.1% (12). Straw-colored aspirates 34.8% (16) and dark brown aspirates 28.3% (13) were the predominant cystic contents. The mandible 45.9% (39) and maxilla 27.1% (23) were the commonest sites for orofacial cysts, while the lip 9.4% (8) was the most frequent soft tissue site. A significant association exists between anatomical site and cyst type at a 95% confidence interval with P = 0.000, X2 = 247.17. Unilocular radiolucency 62.5% (20) and multilocular radiolucency 34.4% (11) were the most common radiographic features.
CONCLUSION
Developmental odontogenic cysts particularly odontogenic keratocysts were most prevalent while mucocele was the most common soft tissue cyst.
Topics: Humans; Male; Female; Nigeria; Retrospective Studies; Adult; Prevalence; Adolescent; Child; Middle Aged; Odontogenic Cysts; Young Adult; Child, Preschool; Aged; Cysts; Sex Distribution; Mucocele
PubMed: 38679765
DOI: 10.4103/njcp.njcp_513_23 -
The Journal of International Medical... Apr 2024Generalized pustular psoriasis (GPP) is characterized by painful and occasionally disfiguring cutaneous manifestations with sepsis-like systemic symptoms, and is a rare... (Review)
Review
Generalized pustular psoriasis (GPP) is characterized by painful and occasionally disfiguring cutaneous manifestations with sepsis-like systemic symptoms, and is a rare severe variant of psoriasis. Currently, there is no standard treatment for GPP. Here, we report a case of a female patient with ankylosing spondylitis (AS) and mild scalp psoriasis, who developed GPP and alopecia following three courses of adalimumab therapy. The patient's condition gradually improved following cessation of adalimumab and treatment with secukinumab and acitretin. After eight weeks of treatment, the patient achieved almost complete clearance of her psoriasis, her alopecia improved, and her AS was relieved. Therefore, we believe that a combination of secukinumab with acitretin may be a rational approach for the treatment of severe GPP.
Topics: Female; Humans; Acitretin; Antibodies, Monoclonal, Humanized; Drug Therapy, Combination; Psoriasis; Spondylitis, Ankylosing; Treatment Outcome; Middle Aged
PubMed: 38661102
DOI: 10.1177/03000605241247702 -
Cureus Mar 2024Introduction Benign lipomatous tumors are soft tissue tumors that exhibit a predominant adipocytic phenotype. Lipomas are the archetype and are the most common benign...
Introduction Benign lipomatous tumors are soft tissue tumors that exhibit a predominant adipocytic phenotype. Lipomas are the archetype and are the most common benign soft tissue tumors in adults but relatively uncommon in children. Their sex incidence is equivocal. They sometimes occur in combination with other mesenchymal elements, giving rise to variants including fibrolipoma, angiolipoma, myolipoma, spindle cell lipoma, chondroid lipoma, osteolipoma, and chondrolipoma. Their clinical significance is mainly due to the cosmetic disfigurement of patients and the differential diagnosis of malignant soft tissue tumors. Occasionally, due to their large size or presence near vital organs, they may cause life-threatening and/or excruciating pressure symptoms. This study was purposed to address the dearth of local studies on the clinical and morphological characteristics of benign lipomatous tumors in Nigerians, to compare these with those of other populations, and to establish baseline data. Materials and methods This was a retrospective study of all benign lipomatous tumors seen in the anatomic pathology and forensic medicine department of Asokoro District Hospital, Abuja, Federal Capital Territory, Nigeria, over an eight-year period. Surgical pathology reports were retrieved for patients' biodata and clinical information. The appropriate slides were retrieved, and reviewed, and new sections were cut where necessary. The tumors were classified according to the 2020 World Health Organization (WHO) guidelines and categorized based on size as small, medium, or giant. The data obtained were analyzed, and the results were presented as tables, bar charts, ratios, and percentages. Results Four hundred and eighteen cases met the inclusion criteria. Of these, 58.4% (244/418), occurred in females, while 41.6% (174/418) occurred in males. The age range was six to 91 years, while the median age was 42 years. The least number of cases, 0.5% (2/418), were seen in patients aged less than 10 years, while the majority, 35.4% (148/418), occurred in the fifth decade, followed by 27.8% (116/418) in the fourth. Size-wise, the majority of tumors, 60% (253/418), were medium, followed by small, 22.8% (95/418). Giant-sized tumors significantly accounted for 16.7% (70/418) of the cases. The diagnostic spectrum comprised conventional lipoma and variants such as fibrolipoma, spindle cell lipoma, pleomorphic lipoma, angiolipoma, chondrolipoma, intramuscular lipoma, and osteolipoma. Lipoma and fibrolipoma dominated with 87.1% (364/418) and 10.0% (42/418), respectively, while the rest accounted for <3%. The majority, 31.8% (133/418), occurred in the back/shoulder region, followed by the lower limb with 18.2% (76/418). Only two cases occurred in the abdominal/pelvic region. More tumors occurred in females in all the regions except the head and neck, which had a male-to-female ratio of 1.5:1. Multiple site tumors were more common in males in a ratio of 2.5:1. Most, 41.1% (39/95), of the small-sized tumors, occurred in the head/neck region, largely involving the face, 48.7% (19/39). Conclusion Our study showed many similarities in the clinical and morphological features of benign lipomatous tumors between Nigerians and other regions of the world. A notable finding, however, was the significantly higher proportion of giant benign lipomatous tumors when compared to studies from other regions, a finding that warrants further studies.
PubMed: 38646250
DOI: 10.7759/cureus.56618 -
Cureus Mar 2024Idiopathic granulomatous mastitis (IGM) is an autoimmune condition of the breast that is commonly encountered in women of non-white ethnicity such as Southeast Asians,...
Idiopathic granulomatous mastitis (IGM) is an autoimmune condition of the breast that is commonly encountered in women of non-white ethnicity such as Southeast Asians, Middle Easterners, and Hispanics. This condition often presents as a painful breast mass, and many patients undergo invasive diagnostic procedures or surgical excision, which can lead to disfiguring scars. Early recognition and prompt treatment with immunosuppressive medications can prevent invasive workups and management. Although previously thought to require an exclusively surgical approach, it now prompts interdisciplinary management. In this context, we present a case series of patients with IGM in a Hispanic population of South Texas.
PubMed: 38638717
DOI: 10.7759/cureus.56453 -
Annals of Vascular Diseases Mar 2024Elephantiasis nostras verrucosa (ENV) is a rare complication of chronic lymphedema, leading to progressive cutaneous hypertrophy and disfigured lower extremities. We...
Elephantiasis nostras verrucosa (ENV) is a rare complication of chronic lymphedema, leading to progressive cutaneous hypertrophy and disfigured lower extremities. We present an unusual case of a 79-year-old man with ENV, who had an episode of erysipelas treated and cured with antibiotics. The patient presented with progressive painless lymphedema of the lower limb years ago, complicated with skin changes. The biology and radiology test does not objective any causes. The compression therapy was proposed to the patient. ENV is characterized by lymphedema and skin anomaly. Management of ENV is often challenging, but a variety of successful medical and surgical treatment strategies have been reported.
PubMed: 38628934
DOI: 10.3400/avd.cr.22-00113