OpenMed/multicare-articles huggingface dataset:
Steroid-Responsive Chronic Schizophreniform Syndrome in the Context of Mildly Increased Antithyroid Peroxidase Antibodies
Authors: Dominique Endres, Evgeniy Perlov, Anne Nicole Riering, Viktoria Maier, Oliver Stich, Rick Dersch, Nils Venhoff, Daniel Erny, Irina Mader, Ludger Tebartz van Elst
Journal: Front Psychiatry (2017)
Keywords: hashimoto encephalopathy, corticosteroids, schizophrenia, steroid-responsive encephalopathy associated with autoimmune thyroiditis, thyroid peroxidase, thyroiditis
MeSH terms: Case Reports

Background:
Schizophreniform syndromes can be divided into primary forms from polygenic causes or secondary forms due to immunological, epileptiform, monogenic, or degenerative causes. Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a secondary immunological form associated with increased thyroid antibodies, such as antithyroid peroxidase antibodies and shows a good response to corticosteroids.
Case presentation:
We present the case of a 41-year-old woman suffering from a schizophreniform syndrome. Starting at the age of 35, she developed psychotic exacerbations with formal thought disorder, acoustic hallucinations, cenesthopathic experiences, and loss of ego boundaries. At the same time, she began to suffer from chronic sexual delusions and olfactory hallucinations, which did not respond to neuroleptic medication. Her levels of antithyroid peroxidase antibodies were slightly increased, and the blood-brain barrier was disturbed. An electroencephalogram (EEG) showed intermittent generalized slowing, and cerebral magnetic resonance imaging (cMRI) depicted mild temporolateral atrophy. High-dose corticosteroid treatment led to convincing improvement of attentional performance and the disappearance of delusions and olfactory hallucinations.
Conclusion:
SREAT can mimic typical symptoms of schizophreniform syndromes. The increased titer of antithyroid peroxidase antibodies in combination with the EEG slowing, blood-brain barrier dysfunction, and the cMRI alterations were the basis for suspecting an immunological cause in our patient. Chronic delusions, olfactory hallucinations, and cognitive deficits were successfully treated with corticosteroids. The occurrence of secondary immunological forms of schizophreniform syndromes demonstrates the need for innovative immunosuppressive treatment options.
Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal-Distal Myopathy in a Chinese Patient
Authors: Guang Ji, Ning Wang, Xu Han, Yaye Wang, Jinru Zhang, Yue Wu, Hongran Wu, Shaojuan Ma, Xueqin Song
Journal: Front Genet (2022)
Keywords: dnajb6, g/f domain, lgmd1d, de novo, rimmed vacuoles, splice-site mutation
MeSH terms: Case Reports

DNAJB6 was identified as the causative gene of limb-girdle muscular dystrophy type 1D. In recent years, the phenotypic and molecular spectrum of DNAJB6-myopathy has been expanded, and several mutations of DNAJB6 have been identified in Europe, North America, and Asia. Interestingly, almost all identified mutations in previous reports were point mutations, and most of them were clustered in exon 5, which encodes the G/F domain of DNAJB6. The so-far unique splice site mutation eliminating the entire G/F domain was reported to cause a severe, early-onset phenotype. Here, we report a juvenile-onset Chinese patient who presented with proximal-distal myopathy as well as esotropia and facial weakness. Muscle pathology showed rimmed vacuolation and myofibrillar disarrangement. A novel splice-site mutation NM_058246:c.236-1_240delGGTGGA of the DNAJB6 gene was identified by targeted exome sequencing, which results in a severe defect of the G/F domain. This rare mutation type expands the molecular spectrum of DNAJB6-myopathy and further underlines the importance of the G/F region.
A Case of Influenza B and Mycoplasma pneumoniae Coinfection in an Adult
Authors: Taro Shinozaki, Kotaro Sasahara, Eri Iwami, Aoi Kuroda, Tatsu Matsuzaki, Takahiro Nakajima, Takeshi Terashima
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

A 19-year-old woman was referred to our hospital because of a persistent fever and cough that lasted for over a week. Influenza B virus infection was diagnosed using the rapid test kit. Initially, the patient was diagnosed with influenza B infection associated with lobar pneumonia and treated with an anti-influenza virus drug and sulbactam/ampicillin. The patient's fever persisted, and her respiratory condition worsened. On day 5, a computed tomography (CT) scan revealed an extension of the consolidation areas in the left lung and new opacities in the right lung. The antibiotic treatment was changed to meropenem and levofloxacin, and the patient's physical condition gradually improved. A sputum sample revealed the presence of Mycoplasma pneumoniae-specific DNA. Both influenza B virus and M. pneumoniae infections were confirmed serologically. This was a case of coinfection with influenza B virus and M. pneumoniae in a healthy young woman. The M. pneumoniae pneumonia diagnosis was delayed because the predominant feature observed in the CT scan was dense consolidation. M. pneumoniae should be considered as one of the causative pathogens in influenza coinfection cases with CT scan images presenting dense consolidation.
Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis
Authors: Antonella Conte, Francesco Brancati, Francesco Garaci, Nicola Toschi, Matteo Bologna, Giovanni Fabbrini, Marika Falla, Bruno Dallapiccola, Patrizio Bollero, Roberto Floris, Alfredo Berardelli
Journal: PLoS One (2012)
MeSH terms: Blepharoptosis / diagnosis, Diffusion Tensor Imaging, Heart Defects, Congenital / diagnosis, Jaw Abnormalities / diagnosis, Nervous System Diseases / diagnosis, Neuroimaging, Ocular Motility Disorders / diagnosis, Synkinesis / diagnosis, Case Reports, Comparative Study, Adult, Biomechanical Phenomena, Case-Control Studies, Female, Humans, Male, Neurophysiology, Reflex, Abnormal, Syndrome, Marcus Gunn phenomenon

Background:
Marcus Gunn jaw-winking synkinesis (MGJWS) is characterized by eyelid ptosis, which disappears during jaw movement. Familial MGJWS is an extremely rare condition. Some authors suggested that MGJWS is due to neural misdirection in the brainstem whereas others suggested that aberrant reinnervation or ephapse may be responsible for synkinetic activity. Pathogenesis of this condition is therefore still unclear.
Methodology/principal findings:
To investigate pathogenetic mechanism in familial MGJWS we performed neurophysiological (EMG, Blink Reflex, Recovery cycle of the R2 component of the blink reflex, Masseter inhibitory reflex, BAEPS and kinematic analysis) and neuroradiological (MRI, Diffusion Tensor Imaging) investigations in a member of a multigenerational family with autosomal dominant Marcus Gunn jaw-winking synkinesis (MGJWS). Kinematic analysis of eyelid and jaw movements disclosed a similar onset and offset of the eyelid and jaw in both the opening and closing phases. The excitability of brainstem circuits, as assessed by the blink reflex recovery cycle and recovery index, was normal. Diffusion Tensor Imaging revealed reduced fractional anisotropy within the midbrain tegmentum.
Conclusions/significance:
Kinematic and MRI findings point to a brainstem structural abnormality in our familial MGJWS patient thus supporting the hypothesis of a neural misdirection of trigeminal motor axons to the elevator palpebralis muscle.
Intraosseous hemangioma of the inferior turbinate
Authors: Kazuya Takeda, Yukinori Takenaka, Michiko Hashimoto
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

The nasal cavity harbors an enormous variety of neoplasms, including epithelial and mesenchymal tumors. Hemangioma is an infrequent mesenchymal tumor of the nasal cavity, mostly arising in the mucosa and rarely in the bones. We describe the case of a 73-year-old woman who was referred to our hospital with a tumor in her left nasal cavity. The tumor originated from the left inferior turbinate. Histological examination subsequent to complete excision revealed that the tumor was an intraosseous cavernous hemangioma. To our knowledge, this is the second case of intraosseous hemangioma of the inferior turbinate reported in the English literature.
Shigellosis Caused by CTX-M Type ESBL Producing Shigella flexneri in Two Siblings of Rural Nepal: First Case Report from the Country
Authors: Narayan Prasad Parajuli, Govardhan Joshi, Bashu Dev Pardhe, Jyotsna Shakya, Anjeela Bhetwal, Shreena Shakya, Roshan Pandit, Sumesh Shreekhanda Shrestha, Puspa Raj Khanal
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Shigellosis is an acute infectious disease characterized as severe bloody diarrhea (dysentery) and is accountable for a significant burden of morbidity and mortality especially in children under the age of 5 years. Antimicrobial therapy is required in the cases of severe dysentery associated with Shigella. However, emergence of multidrug resistant (MDR) strains of Shigella spp. over the last two decades has restricted the use of common therapeutic antimicrobials. In MDR strains, the third-generation cephalosporins have been used for the treatment, but, unfortunately, emerging reports of enzyme mediated β-lactam resistance among Shigella isolates from various parts of the world have greatly compromised the therapy of pediatric dysentery. In Nepal, drug resistant strains of Shigella spp. have been reported, but MDR and extended spectrum β-lactamase (ESBL) producing strains were previously unknown. Here, we report two Shigella flexneri isolates harboring ESBL genotype-CTX-M associated with acute dysentery in two siblings which were presented and treated in a tertiary care teaching hospital of Kathmandu, Nepal.
Treatment of Familial Hypercholesterolemia with Intracranial Xanthoma: Case Report
Authors: XiaoBo Kou, LunXin Liu, LiangXue Zhou
Journal: Front Surg (2022)
Keywords: ezetimibe, familial hypercholesterolemia, intracranial, retrosigmoid sinus approach, xanthoma
MeSH terms: Case Reports

Intracranial xanthoma is a rare benign intracranial tumor. It often occurs in patients with hyperlipidemia. Intracranial xanthomas grow slowly, and clinical symptoms only appear when the mass compresses the surrounding tissues, so early diagnosis of the disease is difficult.
Case Series of Chronic Inflammatory Rheumatic Disease Patients Infected by Coronavirus Disease 2019 (COVID-19)
Authors: Wendlassida Joëlle Stéphanie Tiendrébéogo, Fulgence Kaboré, Eric Arnaud Diendéré, Dieu-Donné Ouedraogo
Journal: Case Rep Rheumatol (2020)
MeSH terms: Case Reports

Coronavirus disease 2019 (COVID-19) is a viral infection that appeared in December 2019. The risk of infection seems to be increased in chronic inflammatory rheumatic diseases due to both immune disturbances related to the disease and treatment. In this case report, we describe the clinical features of 5 rheumatic immune disease patients with the concomitant presence of COVID-19. Among these patients, 3 had rheumatoid arthritis and 2 had systemic lupus erythematosus. Patients' age ranged between 38 and 63 years. Only one patient (SLE) had a severe subtype of COVID-19. All the patients were cured of COVID-19 and were subsequently discharged.
Acute Myeloid Leukemia Evolving from JAK 2-Positive Primary Myelofibrosis and Concomitant CD5-Negative Mantle Cell Lymphoma: A Case Report and Review of the Literature
Authors: Diana O Treaba, Salwa Khedr, Shamlal Mangray, Cynthia Jackson, Jorge J Castillo, Eric S Winer
Journal: Case Rep Hematol (2012)

Primary myelofibrosis (formerly known as chronic idiopathic myelofibrosis), has the lowest incidence amongst the chronic myeloproliferative neoplasms and is characterized by a rather short median survival and a risk of progression to acute myeloid leukemia (AML) noted in a small subset of the cases, usually as a terminal event. As observed with other chronic myeloproliferative neoplasms, the bone marrow biopsy may harbor small lymphoid aggregates, often assumed reactive in nature. In our paper, we present a 70-year-old Caucasian male who was diagnosed with primary myelofibrosis, and after 8 years of followup and therapy developed an AML. The small lymphoid aggregates noted in his bone marrow were neoplastic in nature and represented bone marrow involvement by a CD5-negative mantle cell lymphoma (MCL) that presented without any associated lymphadenopathy. We reviewed the English medical literature to identify a single case report of simultaneous association of AML and a MCL in the bone marrow. The unusual association presented here suggests an increase in observer awareness to apparently benign lymphoid aggregates in chronic myeloproliferative neoplasms.
Neuropsychiatric Outcome of an Adolescent Who Received Deep Brain Stimulation for Tourette's Syndrome
Authors: S J Pullen, C A Wall, K H Lee, S M Stead, B T Klassen, T M Brown
Journal: Case Rep Neurol Med (2011)
MeSH terms: Case Reports

This case study followed one adolescent patient who underwent bilateral deep brain stimulation of the centromedian parafascicular complex (CM-Pf) for debilitating, treatment refractory Tourette's syndrome for a period of 1.5 years. Neurocognitive testing showed no significant changes between baseline and follow-up assessments. Psychiatric assessment revealed positive outcomes in overall adaptive functioning and reduction in psychotropic medication load in this patient. Furthermore, despite significant baseline psychiatric comorbidity, this patient reported no suicidal ideation following electrode implantation. Deep brain stimulation is increasingly being used in children and adolescents. This case reports on the positive neurologic and neuropsychiatric outcome of an adolescent male with bilateral CM-Pf stimulation.
Physiotherapy Rehabilitation of a Conservatively Managed Patient With Pott's Disease: A Case Report
Authors: Komal S Mandhane, Pratik Phansopkar, Neha V Chitale
Journal: Cureus (2023)
Keywords: low-back pain (lbp), physical medicine and rehabilitation, physiotherapy intervention, pott's disease-tuberculous spondylitis, sensory re-education, spinal tuberculosis
MeSH terms: Case Reports

The granulomatous disease tuberculosis (TB) is brought on by the bacteria Mycobacterium tuberculosis. Skeletal TB is involved in 10-35% of extra-pulmonary reported cases worldwide, with the most common kind being tuberculous spondylitis (Pott's disease). Depending upon the extent of spinal engagement, the clinical presentation may include back pain, discomfort, neurological abnormalities, as well as other clinical signs like temperature, malaise, and loss of weight. The multidisciplinary therapeutic care of Pott's illness is centered on a particular medicinal therapy, on-demand surgery, and a customized rehabilitation regimen. A 20-year-old female was diagnosed with Pott's disease following investigations in Acharya Vinoba Bhave Rural Hospital (AVBRH), Sawangi (Meghe), Wardha, India. A tailored physiotherapy (PT) program was started and continued for six weeks, after which improvement in the mobility of the spine, pain relief, increased respiratory function, improved sensory function, and overall improvement in functional independence was markedly seen in the patient. The protocol included mobility, strengthening of lower limbs and core musculature, breathing, and postural correction exercises. Sensory re-education was done. Thus rehabilitation showed a great improvement in the patient and helped ease the patient's discomfort.
Fabella Syndrome as an Uncommon Cause of Posterolateral Knee Pain after Total Knee Arthroplasty: A Case Report and Review of the Literature
Authors: Eriko Okano, Tomokazu Yoshioka, Takaji Yanai, Sho Kohyama, Akihiro Kanamori, Masashi Yamazaki, Toshikazu Tanaka
Journal: Case Rep Orthop (2016)

The fabella is a sesamoid bone that is located in the lateral head of the gastrocnemius muscle and has been identified on magnetic resonance imaging in 31% of Japanese people. In the present case, a 65-year-old woman experienced posterolateral knee pain, accompanied by a clicking "sound" during active knee flexion, after undergoing total knee arthroplasty for knee osteoarthritis. Eight months of conservative therapy failed to produce an improvement, with progressive osteoarthritic change of the fabella identified on plain radiography. Based on this evidence, a diagnosis of fabella syndrome was made and the patient underwent a fabellectomy. Fabellectomy provided immediate resolution of posterolateral knee pain and the clicking sound with knee flexion, with the patient remaining symptom-free 18 months after fabellectomy and with no limitations in knee function. Fabellectomy eliminated symptoms in all of five case reports that have been previously published and is regarded as an effective first choice for treating fabella syndrome after total knee arthroplasty.
Aeromonas hydrophila Survives the Treatment of Posttraumatic Cellulitis in the Shelter of an Obscured Fish-Bone Fragment
Authors: Areti Ganiatsa, Constantina Gartzonika, Georgios Gaitanis, Paraskevi Voulgari, Stamatina Levidiotou-Stefanou, Ioannis D Bassukas
Journal: Case Rep Dermatol Med (2020)
MeSH terms: Case Reports

Fish bone and/or spine puncture injuries can result in infection of the upper extremities with aquatic bacterial pathogens. Additionally, in such injuries, the inoculation of foreign organic material is frequent and may further complicate the clinical presentation and course of the resulting infection. We describe the case of a 45-year-old female patient with a minimal fish rostrum puncture trauma acquired during preparation of fresh fish meal, which resulted in a galloping hand cellulitis. The alarming clinical presentation and the prompt response of the skin infection to clindamycin obscured the presence of inoculated fish rostrum remnants in the tissue that, three weeks later, gave rise to a foreign body granuloma, from which Aeromonas hydrophila was isolated. Final resolution was achieved with an additional two-week doxycycline treatment. In conclusion, the reported case highlights the potential of the accidentally implanted organic material, as are fish bones, not only to transfer uncommon pathogens but also to offer a sanctuary that favors microbial survival despite antibiotic therapy thus enabling latent or recurrent infections.
Surgical management in a rare case of basaloid squamous cell carcinoma of the maxilla
Authors: I Tuhar, D Zamfirescu, D Slăvescu, A Frunză, I Lascăr
Journal: J Med Life (2015)
Keywords: basaloid squamous cell carcinoma, squamous cell carcinoma
MeSH terms: Carcinoma, Squamous Cell / surgery, Maxilla / surgery, Case Reports, Carcinoma, Squamous Cell / pathology, Humans, Magnetic Resonance Imaging, Male, Maxilla / pathology, Middle Aged, Neoplasm Recurrence, Local / surgery

Basaloid squamous cell carcinoma (BSCC) is a rare and aggressive version of squamous cell carcinoma (SCC) that preferentially occurs in the upper aerodigestive tract. Since the first description by Wain SL et al., in 1986, only 21 cases with BSCC in the nasal cavity or in the paranasal cavity have been reported in the English literature. We present a case of BSCC arising in a paranasal sinus, a 51-year-old male patient with four months history of right cheek swelling and unilateral nasal obstruction, who underwent an operation and postoperative radiotherapy. Clinical, pathological and surgical findings in this case are presented along with a brief discussion of literature.
The Masquelet technique in traumatic loss of the talus after open lateral subtalar dislocation-A case report
Authors: Ahmed Nabil Abdulazim, Martina Reitmaier, Henrik Eckardt, Rik Osinga, Franziska Saxer
Journal: Int J Surg Case Rep (2019)
Keywords: case report, hindfoot arthrodesis, masquelet technique, traumatic loss talus

Introduction:
Subtalar dislocations are rare injuries and treatment recommendations missing. Gross contamination and devascularisation are aspects supporting talectomy as potential treatment choice. Reconstruction in these cases can be challenging. The Masquelet technique presents one viable option.
Presentation of case:
A carpenter sustained a high energy chrush injury with traumatic open lateral talar dislocation qualifying as Gustillo Anderson type IIIc injury, a mangeled extremity index of 7 and gross contamination. The severity of soft tissue damage and contamination prompted the decision for talectomy before plastic coverage with a gracilis flap. Additionally a Masquelet procedure with cement spacer was initiated. After consolidation of the soft tissues a hindfoot arthrodesis with approximate preservation of leg length could be performed. In the course of treatment, the patient suffered no infection and could resume full weight bearing after nine months. The patient resumed his previous occupation with adapted workload and is satisfied with the treatment result.
Discussion:
In the present case the principle options were talus preservation or talectomy with reconstruction. Talus preservation in the presence of gross contamination can be associated with the risk of infection, in addition there is a risk to develop secondary arthritis. For this individual patient the a fast and definite solution was important at this point in life. Surgeons therefore opted for talectomy. To optimally reconstruct leg length and optimize for arthrodesis the Masquelet technique was employed.
Conclusion:
The Masquelet technique is a viable option also in the emergency situation to preserve extremity length and optimize tissue viability.
Influence of cardiac rehabilitation in Primigravida with spontaneous coronary artery dissection during postpartum
Authors: Mariana de Carvalho Pinto, Regina Celi Trindade Camargo, José Carlos Silva Camargo Filho, Cristina Elena Prado Teles Fregonesi, Ana Clara Campagnolo Real Gonçalves, Luiz Carlos de Abreu, Luiz Carlos Marques Vanderlei, Roselene Modolo Regueiro Lorençoni
Journal: Int Arch Med (2014)
Keywords: aerobic exercises, cardiac rehabilitation, spontaneous coronary artery dissection
MeSH terms: Case Reports

Background:
The physical exercise consists of trainable physical abilities such as strength and endurance. It can be inferred that the individual cardiac patient is dependent on it as an associated therapy to the drug treatment for a rapid and lasting improvement of their overall clinical status.
Case presentation:
The patient - with Spontaneous Coronary Artery Dissection Postpartum period - was subjected to 21 sessions of cardiac rehabilitation. A physical evaluation was performed, before and after the treatment period, for data collection: anthropometric values, flexibility, aerobic capacity and strength of grip.
Conclusion:
The patient had a positive response in aerobic capacity, flexibility and grip strength and the anthropometric values were kept in short term rehabilitation.
Rare presentation of retroperitoneal leiomyosarcoma mimicking a myoma in a 46-year-old woman: A case report
Authors: Setareh Akhavan, Shahrzad Sheikhhasani, Mohades Peydayesh, Shima Alizadeh, Fatemeh Zamani, Narges Zamani
Journal: Clin Case Rep (2023)
Keywords: internal iliac vein, leiomyosarcoma, retroperitoneal space, surgical resection
MeSH terms: Case Reports

Retroperitoneal sarcoma is relatively uncommon. We share our experience in encountering retroperitoneal sarcoma with vascular and urethral adhesion in a 46-year-old woman. Given the rarity of these tumors, evaluation and management should ideally be performed in a center equipped with multidisciplinary expertise in treating sarcomas.