OpenMed/multicare-articles huggingface dataset:
Alcohol Withdrawal Presenting with Cut Throat Injury during COVID-19 Lockdown: Case Reports from Nepal
Authors: Dipesh Bhattarai, Shreeram Upadhyaya, Hemanta Banstola, Sagun Ballav Pant
Journal: Case Rep Psychiatry (2023)
MeSH terms: Case Reports

Background:
The relationship between alcohol dependence and suicidal tendency is well recognized. Self-harm by cut throat is an uncommon but is potentially life-threatening when attempted. We present a description and discussion of a series of three cases of alcohol dependence syndrome who presented with self-inflicted cut throat wounds during the lockdown period from 24th March to 7th July 2020 due to the COVID-19 pandemic at the largest tertiary care hospital in Nepal. Case description. During the three and a half months of COVID-19 lockdown, we had three cases of alcohol dependence syndrome presenting to emergency services with a self-inflicted cut throat injury. Two cases were diagnosed as having alcohol withdrawal delirium and one case as alcohol-induced psychotic disorder (alcoholic hallucinosis) as per the international classification of mental and behavioral disorders diagnostic criteria for research. All three cases were alcohol dependent for more than a decade, but with no prior self-harm attempts. Necessary surgical interventions were done by the Department of Otorhinolaryngology, and in liaison with the Department of Psychiatry, appropriate psychiatric management was done. All three cases had uneventful outcomes in regard to wound care and mental disorder.
Conclusion:
Suicidal precautions should be taken in alcohol dependence during phases of consumption and abstinence. Screening for alcohol dependence and withdrawal should be a standard process in all self-harm cases that present to the emergency department during a crisis.
Case Report: Sustained ventricular arrhythmia in a child supported by a Berlin heart EXCOR ventricular assist device
Authors: Diego Lineker Marquetto Silva, Stephanie Ondracek Lemouche, Tatiane Yukari Takahashi, Isadora de Campos Zanon, Adailson Siqueira, Desiree Machado, Estela Azeka, Sissy Lara de Melo
Journal: Front Transplant (2024)
Keywords: berlin heart excor®, arrhythmias, cardiology, heart failure, pediatrics, tachycardia
MeSH terms: Case Reports

Mechanical circulatory support is an established therapy to support failing hearts as a bridge to transplantation. Although tolerated overall, arrhythmias may occur after ventricular assist device implantation and can complicate patient management. We report on an infant with dilated cardiomyopathy who developed ventricular tachycardia followed by recalcitrant ventricular fibrillation, refractory to comprehensive medical therapy post Berlin Heart EXCOR® (BHE) implant.
Case Report: Mycobacterium kansasii causing infective endocarditis explored by metagenomic next-generation sequencing
Authors: Liuqing Yang, Ling Peng, Ke Yuan, Kanru Cai, Cheng Feng, Gendong Yang, Shunyao Wang, Xiuyun Zhu, Jieyun Zhang, Fuxiang Wang, Hongzhou Lu
Journal: Front Cell Infect Microbiol (2023)
Keywords: cnv (copy number variant), mycobacterium kansasii, infective endocarditis, metagenomic next-generation sequencing (mngs), nontuberculous mycobacteria (ntm)
MeSH terms: Endocarditis / diagnosis, Endocarditis, Bacterial / diagnosis, Mycobacterium kansasii / genetics, Case Reports, Research Support, Non-U.S. Gov't, DNA Copy Number Variations, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged

In this report, we describe the first case of infective endocarditis caused by Mycobacterium kansasii in a 45-year-old male patient who presented with a 10-day fever and decompensated cirrhosis. Despite negative results in blood culture and pathology, we employed metagenomic next-generation sequencing (mNGS) to analyze the genome sequences of both the host and microbe. The copy number variation (CNV) indicated a high risk of liver disease in the patient, which correlated with biochemical examination findings. Notably, M. kansasii sequences were detected in peripheral blood samples and confirmed through Sanger sequencing. Unfortunately, the patient's condition deteriorated, leading to his demise prior to heart surgery. Nevertheless, we propose that mNGS could be a novel approach for diagnosing M. kansasii infection, particularly in cases where blood culture and pathology results are unavailable. It is important to consider M. kansasii infection as a potential cause of endocarditis and initiate appropriate anti-infection treatment.
Ossifying fasciitis of the proximal lower extremity
Authors: Sydney Bormann, Tiffany Bender, Nicholas Olson, Jason Fowler
Journal: Case Reports Plast Surg Hand Surg (2024)
Keywords: ossifying fasciitis, soft tissue tumor
MeSH terms: Case Reports

Ossifying fasciitis is a rare benign tumor of heterotopic bone formation within fascial tissue. We present a case of a 23-year-old female with a nontraumatic painful mass of the left proximal thigh identified as ossifying fasciitis, a lesion that must be considered in the differential diagnosis of soft tissue tumors.
Fannyhessea vaginae causing bacteraemia and vertebral osteomyelitis: first report of invasive disease in a male
Authors: Victoria Jordan, Ayesha Akram, Robert Pickles, Alyssa Arnold, Syeda Naqvi
Journal: Access Microbiol (2024)
Keywords: fannyhessea vaginae, anaerobic urinary tract infection, vertebral osteomyelitis
MeSH terms: Case Reports

Introduction.Fannyhessea vaginae (formerly Atopobium vaginae) is an anaerobic organism commonly associated with female genital flora, with rare cases of invasive disease reported in females. Case report. We discuss the case of an 81-year-old male who presented with an acute history of back pain and signs of urinary tract infection in the context of intermittent self-urinary catheterisation. Multiple blood cultures grew Fannyhessea vaginae with a later finding of lumbar vertebral osteomyelitis as the cause of back pain. Treatment was commenced with ampicillin, later switched to ceftriaxone, with improvement of acute signs of infection. Conclusion. Gram-positive anaerobic organisms including Fannyhessea vaginae are possibly under-recognised causes of urinary tract particularly in older males. These bacteria may prove challenging to grow in standard protocols for urine culture; anaerobic or extended incubation could be considered particularly in complicated cases of urinary tract infection without an identifiable pathogen.
Oral Chronic Mucositis in a Known Lichen Planus Pigmentosus Patient
Authors: Dalad Pinchaleaw, Pirawish Limlawan
Journal: Case Rep Dent (2024)
MeSH terms: Case Reports

Oral manifestations of mucocutaneous inflammatory diseases such as lichenoid dermatoses often affect the patient's quality of life through the symptoms of pain and burning sensation. In this case report, a patient with known lichen planus pigmentosus (LPP), a variant of lichenoid dermatoses that rarely affect oral mucosa, presented with chronic pain in the oral cavity for 2 months. Her intraoral examination revealed multiple pseudomembranous ulcers with erythematous areas and white striae similar to erosive lichen planus. The histological assessment revealed chronic mucositis, while the direct immunofluorescent examination showed negative results, contradicting the diagnosis of both lichen planus and LPP. Thus, the diagnosis was given as chronic mucositis, and the topical steroid was given. After 6 weeks of steroid application, the lesion resolved. To the best of our knowledge, this is the first report of chronic mucositis in LPP patients. This report could raise the awareness of clinicians to carefully take history as the patient with LPP may suffer from chronic mucositis in the oral cavity as well.
Prosthetic Rehabilitation of All-on-Six Implant-Supported Prosthesis: A Case Report
Authors: Dhanashree A Minase, Seema Sathe, Anjali Bhoyar, Aditee Apte, Ankita Pathak
Journal: Cureus (2024)
Keywords: fixed prosthesis, full-mouth rehabilitation, implant supported prosthesis, implants, paulo maulo
MeSH terms: Case Reports

This clinical report explores the effectiveness of dental implants for rehabilitating fully edentulous arches, with a focus on the all-on-six treatment approach. Implant-supported fixed restorations, particularly using six implants, are presented as an expected and cost-effective solution for the rapid repair of the edentulous patient, avoiding the need for bone grafting. This report details the successful rehabilitation of a patient's completely edentulous arches using the all-on-six concept, highlighting the meticulous planning and execution involved. It concludes that precise diagnostic and implant planning, along with thorough attention to all the features, is crucial for successful implant-supported fixed prostheses, with the all-on-six concept offering improved clinical and radiological outcomes for atrophied maxillae.
Report on the diagnosis and treatment of 3 cases of emphysematous pyelonephritis with two different outcomes
Authors: Minna Zhang, Hongxing Luo, Su Tan, Tao Fei, Zhimin Tang, Qiang Li, Haixing Lin
Journal: Front Med (Lausanne) (2024)
Keywords: case series, emphysematous pyelonephritis, microbiological culture, nephrectomy, urinary system infection

Background:
Emphysematous pyelonephritis (EPN) is a rare acute severe necrotising infection of the kidneys in clinical practice. It is characterized by the presence of gas in the renal parenchyma, collecting system, or perirenal tissue. The prognosis is poor, with a high nephrectomy rate and a mortality rate of up to 20-40%.
Methods:
Retrospective analysis of 3 cases of emphysematous pyelonephritis with two different outcomes.
Results:
Three patients who we described were all female with diabetes mellitus, and their blood sugar was poorly controlled. One patient with the advanced age and poor general health died due to the patient's family choosing to terminate therapy. Two patients underwent surgical procedures achieved an excellent clinical recovery. Both of them underwent percutaneous nephrostomy and perinephric abscess puncture drainage before nephrectomy. Escherichia coli were the microorganisms implicated.
Conclusion:
EPN is a rare and severe urinary system infection. Computed tomography (CT) and microbiological culture confirmed the diagnosis. Control of diabetes, sensitive antibiotic therapy, fluid resuscitation and prompt surgical intervention are crucial.
Microlesion Effect Induced by Electrode Implantation in the Posteroventral Globus Pallidus Interna for Severe Dystonic Tics
Authors: Galih Indra Permana, Takashi Morishita, Hideaki Tanaka, Hitoshi Iida, Shinsuke Fujioka, Hiroshi Abe
Journal: Tremor Other Hyperkinet Mov (N Y) (2024)
Keywords: severe dystonic tics, deep brain stimulation, globus pallidus interna, microlesion effect
MeSH terms: Blepharospasm / therapy, Tics / therapy, Tourette Syndrome / therapy, Case Reports, Electrodes, Globus Pallidus, Humans

Background:
Tourette syndrome (TS) is a neurologic condition characterized by motor and phonic tics. Dystonic tics, including blepharospasm, are considered atypical or unusual in severe TS.
Case report:
We report a severe case of TS with facial dystonic tics resembling blepharospasm in which the microlesion effect and a sustained therapeutic effect was observed with bilateral globus pallidus interna (GPi) deep brain stimulation (DBS).
Discussion:
Bilateral GPi DBS can be beneficial for blepharospasm-like tics and severe symptoms of TS. The improvements seen can be explained by the microlesion effect induced by DBS lead placement in the GPi.
Alien Hand Syndrome Unveiled in a Patient With Right Middle Cerebral Artery Stroke
Authors: Ghada Rashwan, Sara Elagha, Tahani Aldaham, Liza Thomas
Journal: Cureus (2024)
Keywords: alien hand syndrome, alien limb syndrome, involuntary limb movement, posterior variant, right middle cerebral artery stroke
MeSH terms: Case Reports

Alien hand syndrome (AHS) is a rare but significant disorder, characterized by involuntary and often complex movements of one's hand. These movements seem to occur independently and unconsciously, separate from a person's intended actions. We report a case of a 70-year-old male who presented to the emergency department with left sided hemiplegia following a stroke in the right middle cerebral artery (MCA) that affected the right temporal, parietal and internal capsule region. Upon additional inquiry, the patient reported experiencing involuntary, abrupt movements in his left upper and lower limbs particularly while attempting voluntary movements. As per the patient, these symptoms occurred prior to the onset of limb weakness. The diagnosis of AHS was made after excluding other differentials based on the clinical, metabolic and radiological picture. Our patient exhibited unique symptoms and had a different presentation from that mentioned in the literature, as the onset of symptoms preceded the development of limb weakness typically associated with stroke. Involvement of the upper and lower limb and onset of symptoms prior to limb weakness make this case exceptionally rare. Moreover, acknowledging alien hand/limb syndrome as a distinct condition, separate from the broad category of post-stroke movement disorder, carries significant implications for both the management and prognosis of affected individuals.
Diagnostic utility of DNA methylation episignature analysis for early diagnosis of KMT2B-related disorders: case report
Authors: Nadia Bouhamdani, Haley McConkey, Amélie Leblanc, Bekim Sadikovic, Mouna Ben Amor
Journal: Front Genet (2024)
Keywords: dyt28, kmt2b, case report, childhood dystonia, deep brain stimulation, dystonia, epigenetic, episignature
MeSH terms: Case Reports

The lysine methyltransferase 2B (KMT2B) gene product is important for epigenetic modifications associated with active gene transcription in normal development and in maintaining proper neural function. Pathogenic variants in KMT2B have been associated with childhood-onset Dystonia-28 and Intellectual developmental disorder, autosomal dominant 68 (MRD 68) for cases of neurodevelopmental impairment without dystonia (DYT28; OMIM 617284 and MRD68; OMIM 619934, respectively). Since its first description in 2016, approximately one hundred KMT2B genetic variants have been reported with heterogeneous phenotypes, including atypical patterns of dystonia evolution and non-dystonic neurodevelopmental phenotypes. KMT2B-related disorders share many overlapping phenotypic characteristics with other neurodevelopmental disorders and delayed dystonia, that can appear later in childhood, often delaying clinical diagnosis. Furthermore, conventional genetic testing may not always provide actionable information (e.g., gene panel selection based on early clinical presentation or variants of uncertain significance), which prevents patients and families from obtaining early access to treatments and support. Herein, we describe the early diagnosis of KMT2B-related neurodevelopmental disorder by DNA methylation episignature testing in a 4-year-old patient without features of dystonia at diagnosis, which is reported to develop in more than 80% of KMT2B-related disorder cases. The proband, a 4-year-old female of Jewish-Israeli descent, presented with speech delay, microcephaly, poor weight gain, attention-deficit and hyperactivity disorder, dysmorphism, intellectual disabilities and joint hyperlaxity, but presented no signs of dystonia at initial evaluation. Episignature screening in this pre-symptomatic patient enabled accurate genetic diagnosis and timely and actionable intervention earlier in the natural history of Childhood-onset Dystonia-28.
Clinicopathological features of two cases of ETV6-NTRK3 rearranged papillary thyroid carcinoma: a case report
Authors: Jing Ke, Minghua Cao, Wenzhong Zhang, Hua Huang, Ping Chen, Jinhua Liu, Dan Shan, Jie Ke, Zerui Wang, Junchen Liu, Yuan Li, Sheng Xiao
Journal: Front Oncol (2024)
Keywords: etv6-ntrk3 rearrangement, case report, clinicopathological features, the follicular variant of papillary thyroid carcinoma, thyroid carcinoma
MeSH terms: Case Reports

Rearrangements involving the neurotrophic-tropomyosin receptor kinase (NTRK) gene family (NTRK1, NTRK2, and NTRK3) have been identified as drivers in a wide variety of human cancers. However, the association between NTRK rearranged thyroid carcinoma and clinicopathological characteristics has not yet been established. In our study, we retrospectively reviewed medical records of thyroid cancer patients and identified 2 cases with NTRK rearrangement, no additional molecular alterations were observed in either of these cases. The fusion of the rearrangement in both cases was ETV6(E4)::NTRK3(E14). By analyzing the clinicopathological features of these two cases, we found that both were characterized by multiple tumor nodules, invasive growth, and central lymph node metastases, indicating the follicular subtype of papillary thyroid carcinoma. Immunohistochemical staining profiles showed CD56-, CK19+, Galectin-3+, HBME1+. These clinicopathological features suggest the possibility of ETV6-NTRK3 rearranged thyroid carcinoma and highlight the importance of performing gene fusion testing by FISH or NGS for these patients.
Case report: A simple and reliable approach for progressive internal distraction of the sternum for Jeune syndrome (asphyxiating thoracic dystrophy): preliminary experience and literature review of surgical techniques
Authors: Alessandro Inserra, Angelo Zarfati, Valerio Pardi, Arianna Bertocchini, Antonella Accinni, Ivan Pietro Aloi, Cristina Martucci, Simone Frediani
Journal: Front Pediatr (2023)
Keywords: jeune syndrome, children, sternal distractor, thoracic dystrophy, thoracic insufficiency syndrome (tis)
MeSH terms: Case Reports

Background:
Described for the first time in 1954, Jeune syndrome (JS), often called asphyxiating thoracic dystrophy, is a congenital musculoskeletal disease characterized by short ribs, a narrow thorax, and small limbs. In this study, we analyzed and presented our preliminary experience with a device for progressive internal distraction of the sternum (PIDS) in patients with symptomatic JS. In addition, we reviewed the contemporary English literature on existing surgical techniques for treating children with congenital JS.
Material and methods:
A retrospective analysis of pediatric patients (<18 years old) treated for symptomatic JS at our tertiary center between 2017 and 2023 was performed.
Results:
We presented two patients with JS who underwent surgery using an internal sternal distractor, a Zurich II Micro Zurich Modular Distractor, placed at the corpus of the sternum among the divided halves.
Conclusions:
We obtained promising results regarding the safety and effectiveness of this less-invasive device for PIDS in patients with symptomatic JS. Further studies on long-term outcomes are needed to validate these findings.
"Identity theft" in BRCA1/2: impact of positive genetic test results and risk-reducing interventions
Authors: Jonathan M Adler, Sharlene Hesse-Biber, Memnun Seven, Andrew A Dwyer
Journal: Front Genet (2024)
Keywords: breast cancer, coping, genetic testing, hereditary cancer, identity theft, narrative identity

Individuals harboring breast cancer gene 1/2 (BRCA1/2) pathogenic variants are at increased lifetime risk for developing cancer. Learning one's BRCA1/2 carrier status is a watershed moment that can result in psychological distress, anxiety, and depression, as well as feelings of vulnerability and stigma. However, emotional and coping responses to learning one's BRCA1/2 carrier status and after risk-reducing interventions (i.e., preventative bilateral mastectomy) are variable, and existing literature reveals mixed and sometimes contradictory results. Drawing on the concept of narrative identity from the field of psychology, we sought to examine if "identity theft" (the sudden overtaking of one's narrative agency by an external force) may help explain the heterogeneity of emotional and coping responses following the revelation of BRCA carrier status and the subsequent medical intervention one may receive. This Perspective explores BRCA related identity theft using two case studies. Narrative analysis of qualitative interviews uncover the ways that patients experience the disintegration (theft) of their identity as well as their efforts to build and reintegrate a new BRCA carrier identity. This initial qualitative exploration provides preliminary support for the relevance of narrative identity and identity theft to hereditary cancer. We posit that applying the lens of identity theft may hold promise as a unifying concept, integrating across the variable emotional and coping responses among BRCA carriers. Employing a lens of identity theft may help inform the development of tailored narrative interventions as part of precision healthcare to support active coping and psychosocial wellbeing.
Management of 'floating arm': a case report of adolescent ipsilateral proximal humerus fracture with open distal complex intraarticular fracture
Authors: Yousef S Alqahtani, Bader N Alotaibi, Lujane S Alqahtani, Ziad A Aljaafri
Journal: J Surg Case Rep (2024)
Keywords: mva, case report, floating arm injury, humerus fracture, trauma
MeSH terms: Case Reports

Simultaneous ipsilateral fractures of the proximal and distal humerus, known as 'floating arm', are rarely seen in adolescents and are considered challenging to manage. Most of the published cases have involved proximal humerus and distal supracondylar fractures. This paper presents a special case of floating arm injury in a 14-year-old boy following a motor vehicle accident that was managed in a well-established trauma center. The injury consisted of displaced proximal humerus and open distal T-condylar intraarticular fractures. The patient was discharged in good condition and regained functionality with no reported complications.
High-flow arteriovenous fistula in X-linked Alport syndrome: a case report
Authors: Daisuke Takahashi, Kan Katayama, Yoshinobu Iyoda, Ayumi Fukumori, Kayo Tsujimoto, Masahiro Yamawaki, Fumika Tanaka, Ryosuke Saiki, Keiko Oda, Yasuo Suzuki, Tomohiro Murata, Yoshinaga Okugawa, Kaoru Dohi
Journal: Front Med (Lausanne) (2023)
Keywords: alport syndrome, col4a5 mutation, arteriovenous fistula, heart failure, high-flow access, high-output cardiac failure, radial artery banding
MeSH terms: Case Reports

Most male X-linked Alport syndrome patients with COL4A5 nonsense mutations experience end-stage kidney failure by 30 years old. Although there is no definition of high-flow arteriovenous fistula, access blood flows greater than 2000 mL/min might predict the occurrence of high-output heart failure. A 50-year-old Japanese man had suffered from proteinuria at 4 years old and sensorineural hearing loss and a lenticular lens at 20 years old. He had started to receive hemodialysis treatment due to end-stage kidney disease at 22 years old. A genetic test confirmed a novel hemizygous nonsense variant COL4A5 c.2980G > T (p.Gly994Ter), and he was diagnosed with X-linked Alport syndrome. COL4A5 c.2980G > T was considered "pathogenic" according to the American College of Medical Genetics and Genomics guidelines and in vitro experiments. Shortness of breath on exertion was exaggerated, his brachial artery blood flow was over 4,236-4,353 mL/min, his cardiac output was 5,874 mL/min, and he needed radial artery banding at 51 years old. After radial artery banding surgery, the brachial artery blood flow decreased to 987-1,236 mL/min, and echocardiography showed a cardiac output at 5100 mL/min with improved E' and E/E'. His shortness of breath on exertion improved gradually. Although rare, high-output heart failure due to high-flow arteriovenous fistula should be kept in mind as a complication in X-linked Alport syndrome patients, and our patient was successfully treated with radial artery banding surgery.