OpenMed/multicare-articles huggingface dataset:
Case report: Diagnostic clues for anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy in pediatric patients
Authors: Keisuke Watanuki, Hiroshi Koga
Journal: Front Pediatr (2023)
Keywords: autoimmune disease, creatine kinase, hydroxymethylglutaryl coa reductase, muscular disease, myositis
MeSH terms: Case Reports

Introduction:
Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) myopathy is a recently recognized pathology, but appears less common in children and the characteristics of pediatric cases remain unclear.
Case report:
We report a pediatric case of anti-HMGCR myopathy accompanied by skin rash. Motor function and serum creatine kinase level normalized after combinational treatment including early intravenous immunoglobulin, methotrexate, and corticosteroid.
Literature review:
We searched PubMed and identified reports with detailed clinical information of 33 pediatric patients <18 years old with anti-HMGCR myopathy. Among these 33 patients and our own case, skin rash and maximum serum creatine kinase level >5,000 IU/L were observed in 44% (15 patients) and 94% (32 patients), respectively. Skin rash was present in 15 of the 22 patients (68%) ≥7 years old and none of the 12 patients (0%) <7 years old. Among the 15 patients with skin rash, 12 (80%) presented with erythematous rash.
Conclusion:
Erythematous skin rash may offer a clue to the diagnosis of anti-HMGCR myopathy in children with muscle weakness and serum creatine kinase level >5,000 IU/L in the absence of other myositis-specific antibodies, particularly in patients ≥7 years old. Our results suggest the importance of early anti-HMGCR testing in pediatric patients with these manifestations.
Case Report: Efficacy of Rituximab in a Patient With Familial Mediterranean Fever and Multiple Sclerosis
Authors: Mattia Pozzato, Emanuele Micaglio, Chiara Starvaggi Cucuzza, Alessandro Cagol, Daniela Galimberti, Daniela Calandrella, Claudia Cinnante, Carlo Pappone, Monica Zanussi, Giovanni Meola, Elio Scarpini, Nereo Bresolin, Filippo Martinelli Boneschi
Journal: Front Neurol (2021)
Keywords: case report, familal mediterranean fever, hepatotoxicity, multiple sclerosis, rituximab
MeSH terms: Case Reports

Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disease characterized by recurrent episodes of fever and serositis caused by mutations in the MEFV gene, while Multiple Sclerosis (MS) is an inflammatory demyelinating disease of the CNS with genetic and environmental etiology. The two diseases rarely occur in association with relevant implications for clinical management and drug choice. In this paper, we present the case of a 53-year-old male with an autosomal dominant FMF since childhood who presented acute paresthesia at the right part of the body. He performed a brain and spinal cord MRI, which showed multiple brain lesions and a gd-enhancing lesion in the cervical spinal cord, and then received a diagnosis of MS. He then started Interferonβ-1a which was effective but not tolerated and caused hepatotoxicity, and then shifted to Rituximab with 3-month clinical and neuroradiological efficacy.
Case Report: DARS Mutations Responsible for Hypomyelination With Brain Stem and Spinal Cord Involvement and Leg Spasticity
Authors: Meijun Liu, Wen Xiao, Fang Yang, Xueqing Wang, Chao Chen, Shuoguo Jin, Ningjing Ran, Weiyin Chen, Dongdong Yang
Journal: Front Genet (2022)
Keywords: dars1, hbsl, case reprot, mutation, posterior leukoencephalopathy sgndrome
MeSH terms: Case Reports

Objective: Hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) is a rare form of leukodystrophy presenting with varying clinical and imaging features. We report a case of HBSL to investigate the clinical and radiological characteristics of HBSL resulting from cytoplasmic aspartyl-tRNA synthetase gene (DARS) mutations. Subjects: We report a patient of HBSL with compound heterozygous mutations in DARS1. To study the potential genetic variations of the patient, targeted next-generation sequencing, whole-exome sequencing, and Sanger sequencing were used. We reviewed the clinical and radiological features of the patient. The literature was thoroughly evaluated. Results: The patient suffered from developmental regression associated with lower limbs spasticity, developmental delay, and paralysis of the lower limbs since childhood. Decreased T1 and increased T2 signals were observed on the bilateral basal, centrum ovale, frontal lobe, parietal lobe, and ganglia in cervical cord magnetic resonance imaging (MRI). The patient had two compound heterozygous mutations (NM_001349:c.1363T > C and NM_001349:c.821C > G) in the DARS1 gene. Conclusion: Two mutations in DARS1 were found to be associated with HBSL, one of them being reported for the first time. These findings can be valuable for diagnosing and providing genetic counseling to HBSL patients in the future.
Artificial Intelligence (AI) Assisted CT/MRI Image Fusion Technique in Preoperative Evaluation of a Pelvic Bone Osteosarcoma
Authors: Xin-Hui Du, Hua Wei, Po Li, Wei-Tao Yao
Journal: Front Oncol (2020)
Keywords: artificial intelligence, image fusion, irregular bone, pelvic osteosarcoma, tumor margin
MeSH terms: Case Reports

Surgeries of pelvic bone tumors are very challenging due to the complexity of anatomical structures and the irregular bone shape. CT and MRI are used in clinic for tumor evaluation, each with its own advantages and shortcomings. Combining the data of both CT and MRI images would take advantage of the merits of both images and provide better model for preoperative evaluation. We utilized an artificial intelligence (AI)-assisted CT/MRI image fusion technique and built a personalized 3-D model for preoperative tumor margin assessment. A young female patient with pelvic osteosarcoma was evaluated with our novel image fusion 3-D model in comparison with the 3-D model based solely on CT images. The fusion image model showed more detailed anatomical information and discovered multiple emboli within veins which were previously neglected. The discovery of emboli implied abysmal prognosis and discouraged any attempts for complex reconstruction after tumor resection. Based on the experience with this pelvic osteosarcoma, we believe that our image fusion model can be very informative with bone tumors. Though further validation with a large number of clinical cases is required, we propose that our model has the potential to benefit the clinic in the preoperative evaluation of bone tumors.
Severe cerebral abscess associated with pulmonary arteriovenous fistula: case report and literature review
Authors: Chunzhao Li, Shuyu Hao, Jiangfei Wang, Zhixian Gao, Nan Ji
Journal: Chin Neurosurg J (2018)
Keywords: brain abscess, hyperhemoglobinemia, hypoxemia, pulmonary arteriovenous fistula
MeSH terms: Case Reports

Background:
A rare case of cerebral abscess concurrent with pulmonary arteriovenous fistula (PAVF), hyperhemoglobinemia, and hypoxemia was reported.
Case presentation:
A 37-year-old man was admitted with a headache, nausea, vomiting, fever, and numbness of the left cheek and upper limb for 10 days. Cerebral magnetic resonance imaging (MRI) shows the lesion in his right frontal lobe. Blood gas analysis indicated lower blood oxygen saturation level, and blood routine test showed hemoglobin elevation. Craniotomy for the lesion and decompressive craniotomy were performed. Brain abscess was confirmed by pathology examination. The chest computed tomography angiography (CTA) revealed a pulmonary arteriovenous fistula (PAVF) in his right lower lung. After 1 month, embolization of PAVF was performed. Anoxic symptom improved after surgery. Cranioplasty was performed after 7 months.
Conclusion:
The author reported a rare case of cerebral abscess associated with pulmonary arteriovenous fistula. Brain abscess, hyperhemoglobinemia, and hypoxemia might be secondary to PAVF. Treatment of patients includes not only craniotomy for abscess removal but also embolization of PAVF which can prevent recurrence of brain abscess.
Holmium Laser Enucleation of the Prostate in a 400 cc Prostate: Case Report
Authors: Esha L Gopee, Matthew K H Hong, Trung Pham
Journal: J Endourol Case Rep (2016)
MeSH terms: Case Reports

The modality of choice in the surgical management of benign prostatic hyperplasia for large prostates has traditionally been open prostatectomy. Advances in minimally invasive techniques have begun to challenge this notion with advantages such as lower bleeding and transfusion rates and shorter hospital stay. In this case report, we illustrate the use of holmium laser enucleation of the prostate (HoLEP) in a gland measuring more than 400 cc. We describe the case of a 71-year-old man with persistent voiding urinary symptoms despite two previous transurethral resections of his prostate. With greater experience in HoLEP and declining experience in open prostatectomy, there may be a shift toward HoLEP as the preferred treatment choice for large prostate glands.
A case of mucinous adenocarcinoma in the setting of chronic colitis associated with intestinal spirochetosis and intestinal stricture
Authors: Shintaro Akiyama, Daisuke Kikuchi, Toshifumi Mitani, Takeshi Fujii, Akihiro Yamada, Akira Matsui, Osamu Ogawa, Toshiro Iizuka, Shu Hoteya, Mitsuru Kaise
Journal: Medicine (Baltimore) (2015)
MeSH terms: Adenocarcinoma, Mucinous / complications, Colitis / complications, Colonic Neoplasms / complications, Intestinal Diseases / complications, Intestinal Obstruction / complications, Spirochaetales Infections / complications, Case Reports, Adenocarcinoma, Mucinous / diagnosis, Chronic Disease, Colitis / microbiology, Colonic Neoplasms / diagnosis, Colonoscopy, Humans, Intestinal Diseases / microbiology, Male, Middle Aged

Mucinous adenocarcinoma (MC) is a unique pathological type of colorectal cancer (CRC). The development of MC is often associated with intestinal inflammation and/or microsatellite instability (MSI). Moreover, MC has clinicopathological characteristics that render making the correct diagnosis difficult such as extramural progression. Meanwhile, intestinal spirochetosis (IS) is a condition in which colonic epithelial cells are colonized and/or infected by spirochetes. Intestinal inflammation due to IS occurs by the destruction of colonic microvilli and induces chronic diarrhea. Recently, it was reported that the prevalence of IS tended to be high in patients with sessile serrated adenomas/polyps, the precursor of MSI-high CRC including MC. This study presents a case of MC in the setting of intestinal inflammation due to IS and tries to clarify the cause of MC development by performing immunohistochemical stain of resected specimen for DNA mismatch repair (MMR) proteins. This patient is a 63-year-old man with no symptoms who had a positive fecal occult blood test. Subsequent endoscopic findings and biopsy results revealed intestinal stricture of the transverse colon and chronic infective colitis associated with IS. Metronidazole therapy was initiated but was not effective. Although follow-up colonoscopy was performed repeatedly, intestinal perforation occurred 20 months later. Subtotal colectomy and ileostomy were performed. Pathological examination of resected specimens revealed MC with normal expression of MMR proteins, including MLH1, MSH2, MSH6, and PMS2. The histopathological classification was Union for International Cancer Control (UICC) IIIB and adjuvant chemotherapy was initiated. This is an interesting case of MC developing in the setting of chronic colitis associated with IS. It seemed that the cause of MC development was not MSI but intestinal inflammation. Besides, endoscopic diagnosis of MC in this case was difficult because of the extramural progression and lack of obvious atypical colonic glands in biopsy specimens. This report provides evidence for an association between neoplasm and IS-induced intestinal inflammation. Moreover, we suggest that making the diagnosis of MC could be difficult because of its unique clinicopathological characteristics.
Diffuse Ectopic Deciduosis Imitating Peritoneal Carcinomatosis with Acute Abdomen Presentation: A Case Report and Literature Review
Authors: Pavel Sorokin, Andrei Nikiforchin, Aleksandr Panin, Aleksandr Zhukov, Vadim Gushchin, Mark Kurtser
Journal: Case Rep Obstet Gynecol (2020)
MeSH terms: Case Reports

During pregnancy, decidual tissue can occur beyond the endometrium, predominantly on the surface of the uterus, fallopian tubes, and ovaries. This condition, called ectopic deciduosis, generally is not accompanied by any symptoms and complications, does not require treatment, and resolves completely soon after labor. However, rarely it can present with acute abdomen syndrome or imitate peritoneal malignancy and, thus, cause diagnostic difficulties and unnecessary interventions. Here, we report a challenging case of a pregnant woman admitted with acute peritonitis caused by ectopic deciduosis that mimicked peritoneal carcinomatosis. This uncommon manifestation of deciduosis hindered correct diagnosis and led to excessive surgery. While the management of the patient presented is regrettable, the case highlights the natural history of deciduosis, and therefore, important lessons could be learned from it.
Management of adnexal masses' torsion during pregnancy
Authors: Alpha Boubacar Conte, Solène Nyingone, Sofia Jayi, Bineta Jho Diagne, Fatima Zohra Fdili Alaoui, Hikmat Chaara, Moulay Abdelilah Melhouf
Journal: Pan Afr Med J (2020)
Keywords: torsion, adnexal mass, management, pregnancy
MeSH terms: Adnexal Diseases / diagnosis, Pregnancy Complications / diagnosis, Torsion Abnormality / diagnosis, Case Reports, Review, Adnexal Diseases / pathology, Adnexal Diseases / therapy, Adolescent, Adult, Female, Humans, Pregnancy, Pregnancy Complications / pathology, Pregnancy Complications / therapy, Pregnancy Outcome, Prognosis, Torsion Abnormality / pathology, Torsion Abnormality / therapy

With the increased use and quality of ultrasound in pregnancy, adnexal masses are being encountered with greater frequency. Most of the time such masses are asymptomatic. It can be discovered in an emergency. Surgical intervention may cause risks to the mother and her fetus, while observation without intervention may also lead to unfavorable complications, such as ovarian torsion or the development of a tumor. Therefore, the management requires a balance between the maternal and fetal risks. We report two cases of torsion of adnexal masses during pregnancy, and we provide a brief literature review on the management and prognosis of this condition in pregnancy.
Abnormally Elevated Follicle-Stimulating Hormone (FSH) Level in an Infertile Woman
Authors: Aurore Catteau, Kalyane Bach-Ngohou, Justine Blin, Paul Barrière, Thomas Fréour, Damien Masson
Journal: Case Rep Endocrinol (2019)
MeSH terms: Case Reports

We report a case of 33-year-old woman with a 4-year primary infertility. A high isolated follicle-stimulating hormone (FSH) level was conflicting with the clinical situation and with other hormonal markers which were in favor of polycystic ovarian syndrome. We followed a strategy used to identify immune complexes involving FSH. The PEG precipitation test revealed that the high FSH level was almost exclusively due to the presence of autoimmune FSH immunoglobulin complex (macro-FSH). The profile obtained by gel filtration chromatography confirmed the presence of an FSH-immunoglobulin complex. Such immunological dysregulation could be explored in cases of unexplained infertility and recurrent IVF failure.
Unusual Lesion in the Splenium of the Corpus Callosum and COVID-19 Infection: A Case Report
Authors: Wiem Abid, Tim Vanderhasselt, Gert-Jan Allemeersch
Journal: J Belg Soc Radiol (2023)
Keywords: cloccs, cytokinopathy, glutamate excitotoxicity, magnetic resonance imaging, sars-cov-2, the splenium of the corpus callosum
MeSH terms: Case Reports

The novel coronavirus (SARS-CoV-2) causing the recent pandemic outbreak may result in brain injuries. The disease has a high prevalence for thromboembolic complications and a massive release of cytokines. We report a case of CLOCCS, one of the rare neurological complications of SARS-CoV-2 infection.
Teaching point:
The imaging features of the cytotoxic lesion of the corpus callosum (CLOCCS) on magnetic resonance imaging should be known by every radiologist, to make the positive diagnosis and prevent misdiagnosis, especially in the setting of a COVID-19 infection.
A Modified Bilaminar Technique with the Use of a Fibrin-Fibronectin System for a Single Gingival Recession: A Case Report with a Follow-Up of 3 Years
Authors: Michele Perelli, Paolo Giacomo Arduino, Mario Semenza, Roberto Abundo, Hector Sarmiento
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

This case report described a modified bilaminar technique for treating a single gingival recession. Patient presented a gingival recession in a maxillary canine. Tooth was in a buccally prominent position and soft keratinized tissue apical to the recession was reduced but still present. A split-full-split thickness trapezoidal flap was designed. Root's surface was prepared with curettes. Epithelial-connective tissue graft was harvested from the palate with reduced dimension. After deepithelialization, the graft was placed with a fibrin-fibronectin system at the maximum root coverage level, and the flap coronally advanced and sutured. At 3-year follow-up control, the free gingival margin was still stable at the postsurgery position, with a thicker biotype corresponding to the grafted area, with no probing and a suitable aesthetic result.
A rare presentation of ectopic thyroid tissue in the submandibular region: a case report
Authors: Theresa Obermueller, Maximilian von Bernstorff, Bruno Valentin Sinn, Rakan Saadoun, Bastian Gebhardt, Veit Maria Hofmann
Journal: Pan Afr Med J (2021)
Keywords: ectopic thyroid tissue, case report, submandibular mass, thyroid goiter
MeSH terms: Submandibular Gland / diagnostic imaging, Thyroglobulin / blood, Thyroid Dysgenesis / diagnosis, Case Reports, Adult, Diagnosis, Differential, Female, Goiter / surgery, Humans, Magnetic Resonance Imaging, Submandibular Gland / pathology, Thyroid Dysgenesis / surgery, Thyroidectomy / methods, Thyroglobulin

Ectopic thyroid tissue in the lateral neck is a rare finding, especially in the submandibular region. This case report presents a 38-year-old female patient with swelling in the lateral cervical neck. Due to a thyroid goitre, right hemithyroidectomy was performed in the past. However, a persistent high thyroglobulin level was detected after surgery. Regarding the suspected tumour in the submental region, a cervical magnetic resonance imaging (MRI) was performed, which revealed a suspicious looking mass. The patient underwent complete surgical excision and the histopathological report concluded that the tumour was ectopic thyroid tissue. Her thyroglobulin level decreased back to a normal level after excision of the submandibular mass. These results show that ectopic thyroid tissue must be considered a differential diagnosis for patients with unclear swelling in the submental region.
Management of Trazodone Overdose with Severe Hypotension
Authors: Luis David Camacho, Jack Stearns, Richard Amini
Journal: Case Rep Emerg Med (2019)
MeSH terms: Case Reports

Trazodone is a medication that possesses antidepressant, anxiolytic, and hypnotic properties. Its mechanism of action includes blockade of serotonin type 2 receptors, weak inhibition of serotonin reuptake, blockade of histamine 1 receptors, and blockade of alpha-1-adrenergic receptors. We present a case of intentional ingestion of an estimated 2500 mg of trazodone leading to persistent hypotension, requiring aggressive fluid resuscitation, pressor support, and intensive care unit admission. Complications associated with trazodone overdoses are significant and clinicians should be aware of the associated symptoms and necessary management plans necessary for such ingestions.
Cannabis-assisted psychotherapy for complex dissociative posttraumatic stress disorder: A case report
Authors: Anya Ragnhildstveit, Miriam Kaiyo, Matthew Brian Snyder, Laura Kate Jackson, Alex Lopez, Chasity Mayo, Alyssa Claire Miranda, River Jude August, Paul Seli, Reid Robison, Lynnette Astrid Averill
Journal: Front Psychiatry (2023)
Keywords: cannabis, cannabis-assisted psychotherapy, case report, dissociation, medicinal cannabis, posttraumatic stress disorder, trauma, treatment
MeSH terms: Case Reports

Background:
A dissociative subtype of posttraumatic stress disorder, known as "D-PTSD", has been included in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. In addition to meeting criteria for PTSD, patients endorse prominent dissociative symptoms, namely depersonalization and derealization, or detachment from one's self and surroundings. At present, this population is supported by a highly heterogeneous and undeveloped literature. Targeted interventions are therefore lacking, and those indicated for PTSD are limited by poor efficacy, delayed onset of action, and low patient engagement. Here, we introduce cannabis-assisted psychotherapy (CAP) as a novel treatment for D-PTSD, drawing parallels to psychedelic therapy.
Case presentation:
A 28-year-old female presented with complex D-PTSD. In a naturalistic setting, she underwent 10 sessions of CAP, scheduled twice monthly over 5 months, coupled with integrative cognitive behavioral therapy. An autonomic and relational approach to CAP was leveraged, specifically psychedelic somatic interactional psychotherapy. Acute effects included oceanic boundlessness, ego dissolution, and emotional breakthrough. From baseline to post-treatment, the patient showed a 98.5% reduction in pathological dissociation, as measured by the Multidimensional Inventory of Dissociation, no longer meeting criteria for D-PTSD. This was accompanied by decreased cognitive distractibility and emotional suffering, as well as increased psychosocial functioning. Anecdotally, the patient has sustained improvements for over 2 years to date.
Conclusions:
There is urgency to identify treatments for D-PTSD. The present case, while inherently limited, underscores the potential of CAP as a therapeutic option, leading to robust and sustained improvement. Subjective effects were comparable to those produced by classic and non-classic psychedelics, such as psilocybin and ketamine. Further research is warranted to explore, establish, and optimize CAP in D-PTSD, and to characterize its role in the pharmacological landscape.
Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma
Authors: Yuwei Li, Lili Tang, Yang Han, Liyun Zheng, Qi Zhen, Sen Yang, Min Gao
Journal: Front Genet (2019)
Keywords: krt9 gene, epidermolytic palmoplantar keratoderma, gene mutation, hot spot, knuckle pads
MeSH terms: Case Reports

Epidermolytic palmoplantar keratoderma (EPPK, OMIM 144200) is an autosomal dominant inherited disease, clinically characterized by diffuse yellowish thickening of the skin on the palms and soles, usually with erythematous borders developing during the first weeks or months after birth. Pathogenesis of EPPK is determined by mutations in the keratin gene (KRT9). Thirty three mutations in the KRT9 gene from 100 EPPK families have been identified. Among these, 23 mutations are located in the 1A region (a mutation hot spot region), 7 are located in the 2B region, and the remaining 3 are synonymous mutations. In this study, three heterozygous mutations (p.N161S, p.R163W, and p.R163Q), located in regions of the gene encoding the conserved central a-helix rod domain, were detected in the KRT9 gene of the three large Chinese families. This study confirms that codon 163 (48 of 100 cases) is a hot spot mutation site for KRT9. Additional findings identified p.N161S (4%) and p.R163W (4%) as potential hot spot mutations for EPPK associated with knuckle pads, and p.R163Q (15 of 100 cases) as the hot spot mutation of EPPK not occurring in combination with knuckle pads. In conjunction with future studies, this research may help lay the foundation for genetics counseling, prenatal diagnosis and clinical treatment of EPPK.