OpenMed/multicare-articles huggingface dataset:
Gunshot wound of the thoracic aorta with right popliteal artery embolization: a case report of bullet embolism with review of relevant literature
Authors: Saptarshi Biswas, Hadley Cadot, Sunil Abrol
Journal: Case Rep Emerg Med (2013)

Bullet embolism is a well-known but relatively uncommon complication of gunshot injuries. Their rarity and the potential lack of early symptoms lead to delays in diagnosis and often in inadequate early management that can potentially result in the loss of a limb or life. We present an interesting case in which a small caliber bullet to the upper anterior abdomen penetrated the thoracic aorta and traveled to the right popliteal artery embolizing the vessel. The exploratory laparotomy failed to locate neither the bullet nor the trajectory resulting in sudden deterioration and eventual death 5 hours into the postoperative period.
A rare case of plasmacytoma of the ovary: a case report and literature review
Authors: P Shakuntala, S Praveen, B Shankaranand, K Rajshekar, K Umadevi, Ud Bafna
Journal: Ecancermedicalscience (2013)
MeSH terms: Case Reports

Objective:
Extramedullary plasmacytomas are rare. Ovarian plasmacytomas, for which treatment options vary, are more unique and even more rare. We will consider the option of optimal cytoreductive surgery followed by adjuvant chemotherapy consisting of carboplatin (AUC-2) to prevent massive ascites and pleural effusion.
Case report:
We report a case of ovarian plasmacytoma in a 35-year-old woman presenting with abdominal pain due to the mass. She underwent optimal cytoreductive surgery. A post-operative histopathologic diagnosis of ovarian plasmacytoma was confirmed. She was assigned stage IIC disease. She received three cycles of single agent carboplatin for rapidly refilling ascites and pleural effusion. Her response was dramatic. There is no evidence of recurrence clinically for more than 14 months. The patient is receiving follow-up care.
Conclusion:
Multimodality treatment comprising of optimal cytoreductive surgery followed by carboplatin-based chemotherapy is a novel observation and may be an option for the treatment of these rare tumours. This options needs to be further researched.
EEG Patterns Orienting to Lafora Disease Diagnosis-A Case Report in Two Beagles
Authors: Helga Demeny, Bogdan Florea, Flaviu Tabaran, Cecilia Gabriella Danciu, Laurent Ognean
Journal: Front Vet Sci (2020)
Keywords: beagle, eeg, lafora disease, progressive myoclonic epilepsy, surface emg
MeSH terms: Case Reports

Lafora Disease (LD) is a rare, fatal, late-onset, progressive form of myoclonic epilepsy, occurring in humans and dogs. Clinical manifestations of LD usually include seizures, spontaneous and reflex myoclonus with contractions of the neck and limb muscles. We studied the electroencephalogram (EEG) patterns of two beagles in whom LD was subsequently confirmed by genetic testing. In both cases, the EEG recordings, accompanied by electromyography (EMG), have shown similar uncommon patterns. The hypovoltaged background rhythm was interrupted by waxing "crescendo" polyspikes-slow wave complexes appearing 80-250 ms after the start of intermittent photic stimulation, followed by myoclonic jerks after 80-150 ms. This study highlights the value of EEG in establishing a presumptive diagnosis of LD in dogs.
Scrotal migration of a ventriculoperitoneal shunt in an adult. A case report and literature review
Authors: Mohamed Khoudir, Lauren Harris, Sebastian M Toescu, Babar Vaqas
Journal: Brain Spine (2022)
Keywords: neurosurgery, revision, scrotum, surgical complication, ventriculoperitoneal shunt
MeSH terms: Case Reports

Introduction:
Scrotal migration of a ventriculoperitoneal shunt (VPS) catheter is a rare complication of VPS. Scrotal migrations usually manifest in the first year post-operatively, usually in the pediatric population, due to processus vaginalis patency and increased abdominal pressure.
Research question:
To review cases of scrotal migration of a VPS catheter that occur in the adult population, and its recommended management.
Material and methods:
A case report and review of the literature.
Results:
A 75-year-old male with a ventriculoperitoneal shunt for normal pressure hydrocephalus, presented with testicular swelling. Imaging revealed that the distal shunt catheter had migrated into his scrotum. He required an emergency shunt revision, with a truncation of the catheter, and involvement of the general surgical team for hernia management. He remained well at one year follow-up.
Discussion and conclusion:
To the best of our knowledge, this is the fifth case in an adult. This case serves as a reminder to take a thorough clinical history, imaging of the entire VPS pathway, and to consider unusual reasons for VPS failures. Emergency intervention for distal shunt revision is required to prevent further neurological or urological morbidity. Treatment includes not only catheter revision and reinsertion, but the catheter should be truncated, to avoid testicular migration recurrence. Hernia repair can be done either as an emergency or elective case, depending on the patient's clinical status and presentation.
Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report
Authors: Clara Franco-Jarava, Irene Valenzuela, Jacques G Riviere, Marina Garcia-Prat, Mónica Martínez-Gallo, Romina Dieli-Crimi, Neus Castells, Laura Batlle-Masó, Pere Soler-Palacin, Roger Colobran
Journal: Front Immunol (2022)
Keywords: chromosomal rearrangements, common variable immunodeficiency, nfkb1, primary immunodeficiencies, syndromic immunodeficiencies
MeSH terms: Agammaglobulinemia, Common Variable Immunodeficiency / genetics, Primary Immunodeficiency Diseases, Case Reports, Research Support, Non-U.S. Gov't, Chromosome Aberrations, Chromosome Deletion, Chromosomes, Human, Pair 4, Comparative Genomic Hybridization, Humans, NF-kappa B p50 Subunit, NF-kappa B p50 Subunit, NFKB1 protein, human

Syndromic immunodeficiencies are a heterogeneous group of inborn errors of immunity that can affect the development of non-immune organs and systems. The genetic basis of these immunodeficiencies is highly diverse, ranging from monogenic defects to large chromosomal aberrations. Antibody deficiency is the most prevalent immunological abnormality in patients with syndromic immunodeficiencies caused by chromosomal rearrangements, and usually manifests as a common variable immunodeficiency (CVID)-like phenotype. Here we describe a patient with a complex phenotype, including neurodevelopmental delay, dysmorphic features, malformations, and CVID (hypogammaglobulinemia, reduced pre-switch and switch memory B cells, and impaired vaccine response). Microarray-based comparative genomic hybridization (aCGH) revealed a 13-Mb deletion on chromosome 4q22.2-q24 involving 53 genes, some of which were related to the developmental manifestations in our patient. Although initially none of the affected genes could be linked to his CVID phenotype, subsequent reanalysis identified NFKB1 haploinsufficiency as the cause. This study underscores the value of periodic reanalysis of unsolved genetic studies performed with high-throughput technologies (eg, next-generation sequencing and aCGH). This is important because of the ongoing incorporation of new data establishing the relationship between genes and diseases. In the present case, NFKB1 had not been associated with human disease at the time aCGH was performed. Eight years later, reanalysis of the genes included in the chromosome 4 deletion enabled us to identify NFKB1 haploinsufficiency as the genetic cause of our patient's CVID. In the future, other genes included in the deletion may be linked to human disease, allowing us to better define the molecular basis of our patient's complex clinical phenotype.
Pure Squamous Cell Carcinoma of the Gallbladder Masquerading as a Hepatic Mass
Authors: Abhilash Perisetti, Saikiran Raghavapuram, Benjamin Tharian, Irfan Warraich, Fred Hardwicke, Rubayat Rahman, Edwin Onkendi
Journal: Cureus (2018)
Keywords: gall bladder, liver tumors, squamous cell cancer
MeSH terms: Case Reports

Gallbladder (GB) carcinomas are adenocarcinomas (AC) in the majority of cases. Adenosquamous carcinoma (ASC) and pure squamous cell carcinoma (SCC) of the gallbladder are rarely encountered and comprise 1-3% of gallbladder cancer cases. Pure squamous cell carcinoma of the gallbladder is rarer with less than 1% of the incidence. Most of the published literature is based on case reports and case series. The survival rates of ASC and SCC of the gallbladder are significantly lower (mean of five months) compared to the AC of the gallbladder (mean survival of 11.4 months). Most of these lesions are advanced at presentation, rendering them unresectable and resulting in a poor prognosis. However, if the lesions are diagnosed at an early stage, they could potentially be resectable. We report one such rare case of pure SCC GB presenting as a hepatic mass. The patient subsequently underwent resection of the gallbladder and liver mass with complete recovery and is currently planned for chemotherapy and radiation treatment.
Hormone receptor-positive, HER2-negative, metastatic breast cancer responded well to abemaciclib and exemestane after palbociclib and fulvestrant failure: A case report and literature review
Authors: Yan Mao, Meng Lv, Yongmei Wang, Weihong Cao, Wenfeng Li
Journal: Front Oncol (2023)
Keywords: cdk4/6 inhibitor, abemaciclib, breast cancer, case report, metastatic
MeSH terms: Case Reports

There is uncertainty regarding the usefulness of CDK4/6-inhibitor-based therapy for hormone receptor positive (HR+), human epidermal grow factor receptor 2 negative (HER2-), metastatic breast cancer (MBC), when CDK4/6 inhibitor treatment had previously failed. Furthermore, a biomarker for abemaciclib resistance has not been identified. Herein, we reported outcomes for an HR+/HER2- MBC patient diagnosed with multiple myeloma and treated with abemaciclib and exemestane, who had cancer progression after treatment with palbociclib and fulvestrant. Thalidomide was used in conjunction with all treatments. The patient had a good response to abemaciclib and exemestane, with progression-free survival much longer than previously reported. PIK3CA and TP53 mutations were identified after cancer progression following abemaciclib treatment. It is unclear whether thalidomide increased the effectiveness of abemaciclib. Whether benefit can be derived by the use of PI3K inhibitors, after cancer progression, requires further investigation, and this may be best accomplished by the use of next-generation sequencing.
Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse
Authors: Jan Smetana, Jan Oppelt, Martin Štork, Luděk Pour, Petr Kuglík
Journal: Mol Cytogenet (2018)
Keywords: array-cgh, chromothripsis, multiple myeloma, mutation screening, ngs
MeSH terms: Case Reports

Background:
Catastrophic chromosomal event known as chromothripsis was proven to be a significant hallmark of poor prognosis in several cancer diseases. While this phenomenon is very rare in among multiple myeloma (MM) patients, its presence in karyotype is associated with very poor prognosis.
Case presentation:
In our case, we report a 62 year female patient with rapid progression of multiple myeloma (MM) into extramedullary disease and short overall survival (OS = 23 months). I-FISH investigation revealed presence of gain 1q21 and hyperdiploidy (+ 5,+ 9,+ 15) in 82% and 86%, respectively, while IgH rearrangements, del(17)(p13) and del(13)(q14) were evaluated as negative.Whole-genome profiling using array-CGH showed complex genomic changes including hyperdiploidy (+ 3,+ 5,+ 9,+ 11, + 15,+ 19), monosomy X, structural gains (1q21-1q23.1, 1q32-1q44, 16p13.13-16p11.2) and losses (1q23.1-1q32.1; 8p23.3-8p11.21) of genetic material and chromothripsis in chromosome 18 with 6 breakpoint areas. Next-generation sequencing showed a total of 338 variants with 1.8% (6/338) of pathological mutations in NRAS (c.181C > A; p.Gln61Lys) or variants of unknown significance in TP53, CUX1 and POU4F1.
Conclusions:
Our findings suggest that presence of chromothripsis should be considered as another important genetic hallmark of poor prognosis in MM patients and utilization of genome-wide screening techniques such as array-CGH and NGS improves the clinical diagnostics of the disease.
Enface Thickness Mapping and Reflectance Imaging of Retinal Layers in Diabetic Retinopathy
Authors: Andrew W Francis, Justin Wanek, Jennifer I Lim, Mahnaz Shahidi
Journal: PLoS One (2015)
MeSH terms: Diabetic Retinopathy / complications, Image Processing, Computer-Assisted / methods, Retinal Diseases / pathology, Tomography, Optical Coherence / methods, Case Reports, Comparative Study, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Adult, Case-Control Studies, Diabetic Retinopathy / pathology, Female, Humans, Male, Middle Aged, Retinal Diseases / etiology, Software

Purpose:
To present a method for image segmentation and generation of enface thickness maps and reflectance images of retinal layers in healthy and diabetic retinopathy (DR) subjects.
Methods:
High density spectral domain optical coherence tomography (SDOCT) images were acquired in 10 healthy and 4 DR subjects. Customized image analysis software identified 5 retinal cell layer interfaces and generated thickness maps and reflectance images of the total retina (TR), inner retina (IR), outer retina (OR), and the inner segment ellipsoid (ISe) band. Thickness maps in DR subjects were compared to those of healthy subjects by generating deviation maps which displayed retinal locations with thickness below, within, and above the normal 95% confidence interval.
Results:
In healthy subjects, TR and IR thickness maps displayed the foveal depression and increased thickness in the parafoveal region. OR and ISe thickness maps showed increased thickness at the fovea, consistent with normal retinal anatomy. In DR subjects, thickening and thinning in localized regions were demonstrated on TR, IR, OR, and ISe thickness maps, corresponding to retinal edema and atrophy, respectively. TR and OR reflectance images showed reduced reflectivity in regions of increased thickness. Hard exudates appeared as hyper-reflective spots in IR reflectance images and casted shadows on the deeper OR and ISe reflectance images. The ISe reflectance image clearly showed the presence of focal laser scars.
Conclusions:
Enface thickness mapping and reflectance imaging of retinal layers is a potentially useful method for quantifying the spatial and axial extent of pathologies due to DR.
Isolated Right-Sided Posttraumatic Diaphragmatic Hernia
Authors: Ibrahim Amadou Magagi, Oumarou Habou, Harissou Adamou, Ousseini Adakal, Mahamoud Omid Ali Ada, Hellé Moustapha, Habibou Abarchi
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Diaphragm is a compliant musculoaponeurotic barrier located between thoracic and abdominal cavities. Traumatic diaphragmatic rupture is a rare clinicopathological entity. We report a case of right-sided posttraumatic hernia in a child following blunt trauma to highlight diagnostic difficulties and therapeutic specific aspects. A 10-year-old boy was admitted to the emergency surgical department with thoracic trauma following pedestrian accident. At admission a haemothorax was suspected and treated by pleural drainage. The diagnosis of a right-sided diaphragmatic rupture was made after computed tomographic scan forty-eight hours later. At surgery, a reduction of herniated abdominal content and a suture of diaphragmatic defect were performed. The postoperative recoveries were uneventful and the patient was followed up for 12 months without symptoms. The possibility of a diaphragmatic rupture should be kept in mind and sought after any trauma of the thoracoabdominal junction as the diagnosis can be challenging in emergency department.
Accessory Soleus Muscle: Two Case Reports with a Completely Different Presentation Caused by the Same Entity
Authors: Mihovil Plečko, Igor Knežević, Damjan Dimnjaković, Mario Josipović, Ivan Bojanić
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Accessory soleus muscle (ASM) is a rare supernumerary anatomical variant that commonly presents as a posteromedial ankle swelling, which may become painful during physical activity. As it may mimic a soft tissue tumor, it is essential to differentiate this condition from ganglion, lipoma, hemangioma, synovioma, and sarcoma. However, ASM may also present with a painful syndrome, characterized by pain and paresthesia of the ankle and foot, mimicking the tarsal tunnel syndrome (TTS). Two cases of ASM are presented in this article. The first case had a typical presentation with painful posteromedial ankle swelling. After the initial assessment, the diagnosis was confirmed by magnetic resonance imaging (MRI), and ASM was treated by complete resection. The second case presented with pain and paresthesia in the right ankle and foot, but no swelling was noticeable. It was initially misdiagnosed by a rheumatologist and afterward overlooked on an MRI by a musculoskeletal radiology specialist and therefore mistreated by numerous physicians before being referred to our outpatient clinic. After further assessment, the diagnosis has been confirmed, and ASM was treated by complete resection combined with tarsal tunnel decompression. To the best of our knowledge, this is the first case reported in which ASM caused symptoms but presented without posteromedial swelling. This might be due to a proximally positioned belly of the ASM, followed by a tendinous insertion on the medial side of the calcaneus.
Age Differences in Axial Length, Corneal Curvature, and Corneal Astigmatism in Marfan Syndrome with Ectopia Lentis
Authors: Jiahui Chen, Qinghe Jing, Yating Tang, Dongjin Qian, Yi Lu, Yongxiang Jiang
Journal: J Ophthalmol (2018)

Purpose:
To investigate the differences in axial length, corneal curvature, and corneal astigmatism with age in patients with Marfan syndrome (MFS) and ectopia lentis.
Methods:
A retrospective case series study was conducted. MFS patients with ectopia lentis were divided into groups according to age. Axial length, corneal curvature, and corneal astigmatism were measured.
Results:
This study included 114 MFS patients (215 eyes) with a mean age of 19.0 ± 13.9 years. Axial length differed significantly across age groups in MFS patients (P < 0.001), whereas corneal curvature did not (P = 0.767). Corneal astigmatism was statistically significant throughout the MFS cohort (P = 0.009), but no significant difference was found in young MFS patients (P = 0.838). With increasing age, the orientation of the corneal astigmatism changed from with-the-rule astigmatism to against-the-rule or oblique astigmatism (P < 0.001). A linear correlation analysis showed weak correlations between age and axial length for both eyes and with corneal astigmatism for the left eye, but there was no correlation between age and corneal curvature.
Conclusions:
In MFS, axial length varies with age, corneal curvature remains stable, and corneal astigmatism is higher in young patients and tends to shift toward against-the-rule or oblique astigmatism. Therefore, it is important to consider age when diagnosing MFS with ocular biometric data.
Family Group Conferences as a Shared Decision-Making Strategy in Adults Mental Health Work
Authors: Shulamit Ramon
Journal: Front Psychiatry (2021)
Keywords: adult mental health, evaluation, family decision making strategy, implementation process, participation process
MeSH terms: Review

Family Group conferences (FGC) provide a system by which a client and their family reach jointly key intervention decisions, from a number of options proposed by professionals. The system originated in child protection social work. Conceptually FGC is based on the assumption that the family is potentially a supportive social system for an individual with a variety of difficulties, including mental ill health. Reaching a family network agreement can lead to long term positive outcomes in self-confidence and social relationships. This strategy of shared decision making (SDM) can re-unite the family around the client's needs and wishes. It fits well the strengths based and the recovery-oriented approaches to mental ill health. Methodologically, this article provides a narrative review of existing empirical research about FGC in the context of adult mental health. In addition, two community case studies consisting of videos of a mother experiencing mental ill health and a daughter are analysed in terms of their subjective experience of the FGCs they were involved in, and looks at both the process and the outcomes of FGCs. The key findings demonstrate a high level of satisfaction from participating in the FGC meeting, while the evidence pertaining to the outcomes is inconclusive. Only very few systematic review studies, or comparative studies of different approaches to family decision making, exist, and there are no studies which offer cost effectiveness analysis. Discussion: The observed gap between the satisfaction from the process of FGC by the participants vs. the inconclusive outcomes relates to the implementation phase, in which the decisions made by the family are tested. Evaluating FGC processes and outcomes is complex. A systematic and comprehensive research of the implementation process is missing at this stage. In conclusion, FGC is a promising strategy of SDM in adult mental health. The research evidence indicates the need for further exploration of its implementation process, evaluative methodology and methods.
"Cave-in" decompression under unilateral biportal endoscopy in a patient with upper thoracic ossification of posterior longitudinal ligament: Case report
Authors: Xiaowei Jing, Zhiyuan Gong, Xiaowen Qiu, Zhuolin Zhong, ZiChuan Ping, Qingfeng Hu
Journal: Front Surg (2023)
Keywords: cave-in, decompression, percutaneous endoscopy, thoracic ossification of the posterior longitudinal ligament, unilateral biportal endoscopy

Background:
Thoracic ossification of the posterior longitudinal ligament (TOPLL) requires surgery for spinal cord decompression. Traditional open surgery is extremely invasive and has various complications. Unilateral biportal endoscopy (UBE) is a newly developed technique for spine surgery, especially in the lumbar region, but rare in the thoracic spine. In this study, we first used a different percutaneous UBE "cave-in" decompression technique for the treatment of beak-type TOPLL.
Methods:
A 31-year-old female with distinct zonesthesia and numbness below the T3 dermatome caused by beak-type TOPLL (T2-T3) underwent a two-step UBE decompression procedure. In the first step, the ipsilateral lamina, left facet joint, partial transverse process, and pedicles of T2 and T3 were removed. In the second step, a cave was created by removing the posterior third of the vertebral body (T2-T3). The eggshell-like TOPLL was excised by forceps, and the dural sac was decompressed. All procedures are performed under endoscopic guidance. A drainage tube was inserted, and the incisions were closed after compliance with the decompression scope via a C-arm. The patient's preoperative and postoperative radiological and clinical results were evaluated.
Results:
Postoperative CT and MR films conformed complete decompression of the spinal cord. The patient's lower extremity muscle strength was greatly improved, and no complications occurred. The mJOA score improved from 5 to 7, with a recovery rate of 33.3%.
Conclusion:
UBE spinal decompression for TOPLL showed favorable clinical and radiological results and offers the advantages of minimal soft tissue dissection, shorter hospital stays, and a faster return to daily life activities.