OpenMed/multicare-articles huggingface dataset:
Congenital Myasthenic Syndrome in a Mixed Breed Dog
Authors: Theresa J Blakey, Jennifer R Michaels, Ling T Guo, Amy J Hodshon, G Diane Shelton
Journal: Front Vet Sci (2017)
Keywords: chrne, congenital myasthenic syndrome, dog, mixed breed, myasthenia gravis, pyridostigmine bromide
MeSH terms: Case Reports

A 6-month-old, male, intact mixed breed dog was presented for a 3-month history of progressive generalized weakness. Neurologic examination revealed non-ambulatory tetraparesis, weakness of the head and neck, and decreased withdrawal reflexes in all limbs consistent with a generalized neuromuscular disorder. Electromyography and motor nerve conduction velocity were normal. Repetitive nerve stimulation showed a decremental response of the compound muscle action potential with improvement upon intravenous administration of edrophonium chloride. The serum acetylcholine receptor (AChR) antibody titer was within reference range. Cerebrospinal fluid analysis was unremarkable. A presumptive diagnosis of post-synaptic congenital myasthenic syndrome (CMS) was made. Treatment with pyridostigmine bromide was initiated with titrated increases in dosage resulting in an incomplete improvement in clinical signs. The dog was euthanized 2 months after initiation of treatment due to poor quality of life. Immunostaining for localization of antibodies against end-plate proteins in muscle biopsies was negative. Immunofluorescence staining for AChRs in external intercostal muscle biopsies showed absence of AChRs and biochemical quantitation showed a markedly decreased concentration of AChRs with no detectable AChR-bound autoantibody which confirmed the diagnosis of a CMS. Evaluation for the CHRNE mutation previously identified as the causative mutation of CMS in Jack Russell Terriers was performed and was negative. This is the first reported confirmed case of CMS in a mixed breed dog and provides a review of typical clinical and diagnostic findings as well as treatment considerations.
Corneal deposit of ciprofloxacin after laser assisted subepithelial keratomileusis procedure: a case report
Authors: Giacomo De Benedetti, Andrea Brancaccio
Journal: J Ophthalmol (2010)
MeSH terms: Case Reports

Purpose. To report one case of corneal antibiotic deposition after ciprofloxacin administration in Laser Assisted Subepithelial Keratomileusis (LASEK). Methods. One case of post-LASEK treatment resulted in corneal precipitates and poor wound healing. Debris was analyzed with dark field microscopy and placed on a blood-agar plate seeded with a susceptible stain of Staphylococcus aureus (ATCC 29213). Results. The alterations resolved with discontinuation of ciprofloxacin treatment, although some residual deposits persisted subepithelially for 6 months. Analysis of precipitates revealed polydisperse crystalline needles of 183 mum average length (SD = 54 mum) and the excised precipitate demonstrated a zone of inhibition. Conclusions. Fluoroquinolone antibiotic drops have been used extensively in postsurgical treatment of refractive surgery. Corneal precipitates have been previously reported in the literature, but up to now nothing has been documented after LASEK. Polypharmacy during refractive surgery may impair epithelialisation, and clinical management should reduce toxic environment and promote ocular surface stability when performing surface ablations.
Case Report: Spontaneous Intramural Hematoma of the Colon Secondary to Low Molecular Weight Heparin Therapy
Authors: Ye Zhu, Chao Wang, Chao Xu, Jia Liu
Journal: Front Pharmacol (2021)
Keywords: anticoagulation, bowel, case report, hematoma, low molecular weight heparin
MeSH terms: Case Reports

Background: Hematoma of the colon is a rare hemorrhagic complication that affects patients accepting low molecular weight heparin (LMWH) therapy. Only scarce cases of colon hematoma have been reported, usually in children or patients accepting warfarin therapy. Case summary: A 76-year-old Chinese man was diagnosed with atrial fibrillation and heart failure, with cardiac function NYHA grade III on March 21, 2018. This patient was given LMWH for anticoagulation therapy and developed a colon hematoma on the third day of hospitalization. Abdominal computed tomography (CT) showed the thickening of areas of the colon up to 110 mm × 78 mm in thickness, which was a symptom of colon hematoma. The patient underwent conservative treatment successfully. On March 27, the patient's abdominal pain was alleviated, and a CT scan showed that the intestinal hematoma was absorbed. Conclusions: The most frequent minor bleeding events of LMWH anticoagulation are hemorrhage and subcutaneous hematoma. This case demonstrated that bowel hematoma despite its low incidence should be considered as an ADR of LMWH therapy, especially among patients who present with gastrointestinal symptoms.
Inadvertent intrathecal injection of tranexamic acid
Authors: Olfa Kaabachi, Mongi Eddhif, Karim Rais, Mohamed Ali Zaabar
Journal: Saudi J Anaesth (2011)
Keywords: intrathecal, seizures, tranexamic acid, ventricular tachycardia
MeSH terms: Case Reports

Some factors have been identified as contributing to medical errors such as labels, appearance, and location of ampules. In this case report, inadvertent intrathecal injection of 80 mg tranexamic acid was followed by severe pain in the back and the gluteal region, myoclonus on lower extremities and agitation. General anesthesia was induced to complete surgery. At the end of anesthesia, patient developed polymyoclonus and seizures needing supportive care of the hemodynamic, and respiratory systems. He developed ventricular tachycardia treated with Cordarone infusion. The patient's condition progressively improved to full recovery 2 days after. Confusion between hyperbaric bupivacaine and tranexamic acid was due to similarities in appearance between both ampules.
Bilateral Oval and Round Window Atresia on CT Temporal Bone: A Rare Anomaly Clinically Mimicking Otosclerosis in an Adult
Authors: Manzoor Ahmed, Yogesh Indrasen More, Shaik Irfan Basha
Journal: Case Rep Radiol (2019)
MeSH terms: Case Reports

We present a rare adult case of bilateral oval and round window atresia. Clinical and audiologic findings were suggestive of otosclerosis. High resolution CT Temporal bones showed unequivocal findings of bilateral oval and round window atresia. Atresia of these windows is a rare temporal bone anomaly. Presentation as an adult can confound the clinicians and warranting a closer look on the CT for atretic windows and subtle signs of otosclerosis in patients with conductive hearing loss.
First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier
Authors: Alexandre Rouen, Capucine Hyon, Richard Balet, Nicole Joyé, Nino Guy Cassuto, Jean-Pierre Siffroi
Journal: Case Rep Genet (2014)

Introduction. Balanced chromosomal carriers, though usually healthy, are confronted with recurrent spontaneous abortions and malformations in the offspring. Those are related to the transmission of an abnormal, chromosomally unbalanced genotype. We evidenced that the proportion of unbalanced spermatozoa can be significantly decreased through a sperm preparation process called discontinuous gradient centrifugation (DGC). We therefore started offering intrauterine inseminations with this procedure to couples with a male translocation carriers. Case Presentation. We report the case of a 37-year-old man carrying a t(3;10)(q25;p13) reciprocal translocation. He and his partner had had trouble conceiving for ten years and had four spontaneous abortions. DGC in this patient decreased the proportion of unbalanced spermatozoa from 63.6% to 52.3%. They were therefore offered intrauterine insemination with DGC, which eventually led to the birth of a healthy female child carrying the paternal translocation. Conclusion. We showed that translocation carriers could be offered intrauterine inseminations with DGC. Before this, the only two options were natural conception with prenatal diagnosis and termination of chromosomally unbalanced fetuses or preimplantation genetic diagnosis, which is a much heavier and costly procedure. We are currently offering this option through a multicentric program in France, and this is the first birth originating from it.
Single-Center Experience With Epigenetic Treatment for Juvenile Myelomonocytic Leukemia
Authors: Andra Marcu, Andrei Colita, Letitia Elena Radu, Cristina Georgiana Jercan, Ana Maria Bica, Minodora Asan, Daniel Coriu, Alina Daniela Tanase, Carmen C Diaconu, Cristina Mambet, Anca Botezatu, Sergiu Pasca, Patric Teodorescu, Gabriela Anton, Petruta Gurban, Anca Colita
Journal: Front Oncol (2020)
Keywords: azacytidine, epigenetics, hematopoietic stem cell transplantation, juvenile myelomonocytic leukemia, methylation, mutation
MeSH terms: Case Reports

Background: Juvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative neoplasm diagnosed in young children, characterized by somatic or germline mutations that lead to hyperactive RAS signaling. The only curative option is hematopoietic stem cell transplantation (HSCT). Recent data showing that aberrant DNA methylation plays a significant role in pathogenesis and correlates with clinical risk suggest a possible benefit of hypomethylating agents (HMA) in JMML treatment. Aim: The aim is to report the results of HMA-based therapy with 5-azacytidine (AZA) in three JMML patients treated in a single center, non-participating in EWOG-MDS study. Methods: The diagnosis and treatment response were evaluated according to international consensus criteria. AZA 75 mg/m2 intravenous (i.v.) was administered once daily on days 1-7 of each 28-day cycle. All patients were monitored for hematologic response, spleen size, and evolution of extramedullary disease. Targeted next generation sequencing (NGS) were performed after the 3rd AZA cycle and before SCT to evaluate the molecular alterations and genetic response. Results: Three patients diagnosed with JMML were treated with AZA (off-label indication) in Pediatric Department of Fundeni Clinical Institute, Bucharest, Romania between 2017 and 2019. There were two females and one male with median age 11 months, range 2-16 months. The cytogenetic analysis showed normal karyotype in all patients. Molecular analysis confirmed KRAS G13D mutation in two patients and NRAS G12D mutation in one patient. The clinical evaluation showed important splenomegaly and hepatomegaly in all 3 pts. One patient received AZA for early relapse after haploidentical HSCT and the other two patients received upfront AZA, as bridging therapy before HSCT. After HMA therapy, 2/3 patients achieved clinical partial response (cPR), 1/3 had clinical stable disease (cSD) and all had genetic stable disease (gSD) after 3 cycles and were able to receive the planned HSTC. One patient achieved clinical and genetic complete response before HSCT. During 22 cycles of AZA there were only four adverse events but only one determined dose reduction and treatment delay. Conclusion: Our data show that AZA monotherapy is safe and effective in controlling disease both in upfront and relapsed patients in order to proceed to HSCT.
Case report: Autosomal recessive bestrophinopathy with macular cysts and MNV over 13-year follow-up
Authors: Lei Zhang, Hai-Yan Wang, Wei Jia, Ru Wang, Yu-Sheng Wang, Yang-Yang Cui
Journal: Front Genet (2022)
Keywords: best1 gene, macular cysts, macular dystrophy, macular neovascularization, recessive bestrophinopathy
MeSH terms: Case Reports

Purpose: To describe the phenotype and genotype of a patient with autosomal recessive bestrophinopathy (ARB) over a 13-year follow-up period. Methods: The phenotype of the subject was described after a complete ophthalmological examination, which included fundus photography, optical coherence tomography (OCT), fundus autofluorescence, fluorescein angiography (FA), indocyanine green angiography (ICGA), electroretinogram (EOG), electroretinography (ERG), and multifocal electroretinogram (mfERG). Genetic analyses were carried out by screening the variations via whole-exome sequencing. Results: This patient presented with retinoschisis and cystic changes when he was 7 years old and was diagnosed with X-linked retinoschisis. In the 13th year after the first presentation, enlarged macular cysts with retinoschisis, macular neovascularization (MNV), and subretinal fluid were displayed on OCT. Autofluorescence showed hyperfluorescence corresponding to the area of retinal pigment epithelium (RPE) change. EOG showed no light peak, and the Arden ratio was less than 2.0. Whole-exome sequencing revealed compound heterozygous sequence variations (p. [Arg47Leu; Trp287*]) in the coding sequence of the BEST1 allele inherited from his parents. Thus, a diagnosis of ARB combined with secondary MNV was made. Conclusion: Patients with compound heterozygous BEST1 mutations developed ARB, which could show significant retinoschisis at a young age. Genetic analyses, autofluorescence, and EOG are essential to diagnose ARB correctly in consequence of considerable phenotypic variations.
Epithelioid angiomyolipoma of liver with an inflammatory component: a case report
Authors: Jyothi C R, Dhanya P Menon, Joy Augustine, A K Abdul Siyad
Journal: Case Reports Hepatol (2013)

Angiomyolipomas (AMLs) are benign mesenchymal tumors seen in kidneys in association with tuberous sclerosis. They are uncommon in liver. Angiomyolipomas of liver show great histological diversity and various types and patterns are described. Among them, epithelioid and inflammatory angiomyolipomas are rare. We report a case of epithelioid angiomyolipoma of Liver with an inflammatory component.
Small Intestinal Diverticulosis: A Rare Cause of Intestinal Perforation Revisited
Authors: Ahmed Faidh Ramzee, Mohamed H Khalaf, Khalid Ahmed, Ejaz Latif, Noreddin Aribi, Nizar Bouchiba, Rajvir Singh, Ahmad Zarour
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Jejunoileal diverticulosis (JID) is a rare and nonspecific symptomatic disease. It is usually an acquired condition associated with false diverticula and integrated with colonic diverticulosis which can be diagnosed incidentally or later with complications. A sixty-nine-year-old male presented with sudden onset generalized abdominal pain. Computed tomography (CT) imaging was suggestive of ileal diverticulitis with localized perforation. The patient was treated conservatively with IV fluids and antibiotics and kept nil per orem for three days and discharged after symptoms subsided. The patient returned with a similar presentation but with a greater intensity. CT with oral contrast revealed evidence of distal ileal perforation. The terminal ileum was resected, and a double barrel ileostomy was created. Six months later, the stoma was reversed after resecting 50 cm of proximal terminal ileum which included all diverticula. The patient had a smooth postoperative recovery. Small bowel diverticulitis is generally managed conservatively unless the patient's clinical condition mandates urgent exploration. This report may add knowledge and lead to a change in clinical practice.
Use of tunica vaginalis graft for repair of traumatic bilateral testicular rupture after gunshot: a case report
Authors: Faisal Ahmed, Mohammed Naji, Ahmed Al-Hitari, Qais Amer, Mohammed Al-Sagheer, Umayir Chowdhury
Journal: Pan Afr Med J (2020)
Keywords: bilateral testis, gunshot, trauma
MeSH terms: Rupture / surgery, Testis / surgery, Wounds, Gunshot / surgery, Case Reports, Follow-Up Studies, Humans, Male, Orchiectomy, Rupture / etiology, Testis / diagnostic imaging, Testis / injuries, Ultrasonography, Wounds, Gunshot / diagnostic imaging, Young Adult

Bilateral testicular injuries are rare. However, the incidence of these injuries has been increasing in wartime. We describe the case of gunshot wound of the both testicle caused by high velocity bullets. The patient was managed by surgical exploration, debridement and repaired of both testis using tunica vaginalis. During the follow up, the left testis was not viable and there was a need for orchiectomy; in a follow-up of 4 months, ultrasonography showed a viable right testis with minimal atrophic change and the patient reported to have normal erection with borderline hormonal function. We describe this case of bilateral testicular rupture, which was repaired using tunica vaginalis as graft, with attention to the management and outcome of this injury process.
Secondary Knee Osteoarthritis due to Neurofibromatosis Type 1 Treated with above the Knee Amputation: A Case Report
Authors: Jay Patel, Jeffrey Whiting, Daniel Jones
Journal: Case Rep Orthop (2013)

Background. Neurofibromatosis Type 1 (NF-1) has a variety of associated orthopaedic manifestations that have been previously reported. We report a case of severe, grade 4 knee osteoarthritis (OA) with recurrent subluxation and joint laxity due to multiple extra-articular neurofibromas ultimately treated with Above the Knee Amputation (AKA). Case Description. A 39-year-old man presented with multiple neurofibromas and lymphedema leading to degenerative changes of the knee. Conservative treatment failed due to the severity of the knee degeneration and patient discomfort. Likewise, arthroplasty was not possible due to poor bone quality and joint instability. Therefore, AKA was selected to relieve symptoms and provide functional improvement. six months after the procedure the patient has increased functional capacity for ambulation and activities of daily living, as well as significant decrease in pain and discomfort. Clinical Relevance. Extra-articular neurofibromas causing severe secondary OA in relatively young patients can be functionally improved with AKA and prosthetic device use.
A Case of Human Viral Encephalitis Caused by Pseudorabies Virus Infection in China
Authors: HongNa Yang, Hui Han, Hao Wang, Yi Cui, Han Liu, ShiFang Ding
Journal: Front Neurol (2019)
Keywords: japanese encephalitis, herpes simplex encephalitis, next-generation sequencing, pseudorabies virus, viral encephalitis
MeSH terms: Case Reports

We report a human case of viral encephalitis caused by pseudorabies virus (PRV) in China. A 43-year-old man with no previous medical history presented with high-grade fever, headache and tonic-clonic seizures as well as coma. Plain computer tomography (CT) brain imaging showed hypo-density in the bilateral basal ganglia, bilateral occipital lobe, bilateral limbic lobe, and left thalamic. Next-generation sequencing (NGS) confirmed the presence of PRV in cerebral spinal fluid (CSF). Regular polymerase chain reaction (PCR) was applied to confirm the presence of PRV in the CSF and blood. In addition, serological (immunological) tests were used to further validate the presence of PRV in the peripheral blood. This case suggested that it was possible for PRV to result in human central nervous system (CNS) infection, and it is necessary for people to increase awareness of self-protection when contacting animals.
Treatment of anxiety and depression in a patient with brugada syndrome
Authors: Jasper J Chen, Rajbir S Sangha
Journal: Case Rep Psychiatry (2014)

Background. Brugada syndrome is rare and has been a clinically diagnosable entity since 1992. Its clinical manifestations are highly variable, and while some patients remain asymptomatic, others endure sudden cardiac death. Initial presenting symptoms may include palpitations, seizures, syncope, and nocturnal agonal respiration. The diagnosis of Brugada syndrome relies on both clinical findings and characteristic ECG patterns that occur spontaneously or are induced by usage of sodium-channel blocking agents. Aims of Case Report. Many psychiatrists may be unaware of the possibility of medical cocontributing etiologies to physical symptoms of anxiety and depression. We present a case of a patient who was treated psychiatrically for anxiety and panic attacks and who was subsequently diagnosed with Brugada syndrome and treated medically with an implantable cardioverter defibrillator (ICD), the only treatment option demonstrated to be effective. Her psychiatric symptoms predated her diagnosis of Brugada syndrome by at least fifteen years. Conclusion. The patient's eventual diagnosis of Brugada syndrome altered the course of her psychopharmacologic medication management and illustrates the utility of a psychosomatic approach to psychiatric symptom management.
Severe Progressive Diffuse Alveolar Hemorrhage in a Patient with Systemic Lupus Erythematosus
Authors: Munenori Kusunoki, Takeshi Umegaki, Tomohiro Shoji, Kota Nishimoto, Natsuki Anada, Akiko Ando, Takeo Uba, Kanako Oku, Saya Hakata, Satoshi Hagihira, Takahiko Kamibayashi
Journal: Case Rep Crit Care (2018)
MeSH terms: Case Reports

Diffuse alveolar hemorrhage (DAH) refers to the effusion of blood into the alveoli due to damaged pulmonary microvasculature. The ensuing alveolar collapse can lead to severe hypoxemia with poor prognosis. In these cases, it is crucial to provide respiratory care for hypoxemia in addition to treating the underlying disease. Here, we describe our experience with a case involving a 46-year-old woman with severe DAH-induced hypoxemia accompanying systemic lupus erythematosus (SLE). Mechanical ventilation was managed using airway pressure release ventilation (APRV) after intubation. Through APRV-based respiratory care and treatment of the underlying disease, hemoptysis was eliminated and oxygenation improved. The patient did not experience significant barotrauma and was successfully weaned from mechanical ventilation after 25 days in the intensive care unit. This case demonstrates that APRV-based control for respiratory management can inhibit the effusion of blood into the alveoli and achieve mechanical hemostasis, as well as mitigate alveolar collapse. APRV may be a useful method for respiratory care in patients with severe DAH-induced hypoxemia.
Small vessel microembolization and acute glomerulonephritis following infection of aesthetic filler implants
Authors: Pablo Cannata-Ortiz, Carolina Gracia, Youssef Aouad, Antonio Barat, Miguel Angel Martinez-Gonzalez, Gabriela Rossello, Catalina Martin-Cleary, Beatriz Fernández-Fernández, Luis Requena, Alberto Ortiz
Journal: Diagn Pathol (2016)
MeSH terms: Biocompatible Materials, Cosmetic Techniques / adverse effects, Dermal Fillers / adverse effects, Embolism / chemically induced, Foreign-Body Migration / etiology, Glomerulonephritis / chemically induced, Polymethyl Methacrylate / adverse effects, Case Reports, Research Support, Non-U.S. Gov't, Acute Disease, Biopsy, Dermal Fillers / administration & dosage, Embolism / diagnosis, Embolism / therapy, Female, Fluorescent Antibody Technique, Foreign-Body Migration / diagnosis, Foreign-Body Migration / therapy, Glomerulonephritis / diagnosis, Glomerulonephritis / therapy, Humans, Injections, Subcutaneous, Microspheres, Middle Aged, Polymethyl Methacrylate / administration & dosage, Predictive Value of Tests, Streptococcal Infections / complications, Biocompatible Materials, Dermal Fillers, Polymethyl Methacrylate

Background:
The systemic consequences of esthetic filler injections are poorly understood.
Case presentation:
We report a patient with a past history of subcutaneous injection of aesthetic filler material in the lower legs, who presented with post-infectious glomerulonephritis following necrotic leg ulcers at the injection site. Kidney biopsy revealed the presence of translucent, non-birefringent microspherical bodies compatible with polymethylmetacrylate (PMMA) microspheres in some capillary lumens. This had not previously been described. PMMA is a biphasic aesthetical filler composed of polymethylmetacrylate microspheres suspended in a biodegradable bovine collagen carrier. The solid phase (PMMA microspheres) persists in tissues for years. Although PMMA was thought to not disseminate systemically, tissue necrosis may have favored systemic dissemination of the microspheres, although entry in the circulation and microembolization at the time of administration cannot be ruled out.
Conclusions:
In conclusion, aesthetic filler implants may cause microembolization into small vessels. Recognition of the characteristic morphology may expedite diagnosis and avoid unnecessary further testing.