OpenMed/multicare-articles huggingface dataset:
Menotrophin Induced Autoimmune Hepatitis
Authors: Shurouq H Alqrinawi, Nuralhuda Akbar, Hind AlFaddag, Shahrazad Akbar, Lujayn Akbar, Sohail A Butt, Mohammed Aljawad
Journal: Case Rep Gastrointest Med (2019)
MeSH terms: Case Reports

Menotrophin is a protein-based hormonal therapy. It is used as a fertility medication that is given as injection either subcutaneously or intramuscularly. Menotrophin has not been previously reported to cause drug-induced liver injury. Drug-induced liver injury (DILI) is commonly seen nowadays with the expansion of the drug industry. It is associated with prescribed medications, over the counter drugs, herbal and dietary supplements. We report the first case of Menotrophin-induced autoimmune hepatitis in a 26-year-old Caucasian woman who was diagnosed with primary infertility due to failure to conceive after five years of marriage. She had received several cycles of Menotrophin, then developed new onset jaundice and fatigue associated with increase in transaminases. She had normal baseline liver function and enzymes prior to receiving treatment with Menotrophin. Evaluation showed no evidence of viral hepatitis, metabolic, alcoholic or vascular causes of liver injury. Autoimmune screening was positive for antinuclear antibody (ANA) with titer of 1 : 640 fine speckled, immunoglobulin G (IgG) level was 1900 mg/dl. Antimitochondrial antibodies (AMA) and antismooth muscle antibodies were negative. Liver biopsy showed features of chronic hepatitis with interface hepatitis and prominence of plasma cells, which best reflects autoimmune hepatitis. Her liver enzymes and bilirubin completely normalized after discontinuation of further Menotrophin therapy and starting treatment with prednisolone and Azathioprine.
Serious bicycle crash injury in chiropractic practice - a case report of delayed diagnosis
Authors: Lars Uhrenholt
Journal: Chiropr Man Therap (2016)
Keywords: bicycle traffic crash, cervical spine fracture, chiropractic practice, delayed diagnosis

Background:
Bicyclists are vulnerable road users and are at risk of serious spinal injury if involved in traffic crashes. In Denmark approximately 25 bicyclists are killed each year and some 20.000 bicycle related casualties are registered in the National Patient Registry each year. In addition to these figures, a large number of casualties remain unregistered despite injury. Many of the casualties will consult chiropractors in primary practice with or without preceding evaluation in the established emergency care facilities. Therefore, chiropractors are expected to be able to proficiently evaluate these patients clinically and radiologically in order to ensure the best possible patient care.
Case presentation:
This report involves a middle-aged female who consulted several physicians following a collision with a motor vehicle while riding a bike. Despite clinical symptoms and consequent examinations she suffered from inadequate diagnostic evaluation until a radiological examination was performed 18 days following the injurious crash identifying unstable cervical spine fractures.
Conclusions:
The presented case is an example of the serious spinal injuries bicyclists may suffer when involved in high-energy traffic crashes despite wearing a bicycle helmet. The case report highlights the need for relevant clinical (including radiological) decision strategies when dealing with trauma patients in chiropractic practice. This involves the direct access to radiological procedures with no unnecessary delay when indicated as in most trauma cases. Furthermore, clearly defined and easy accessible referral schemes from primary care settings to emergency departments must be available to the chiropractic physician. Chiropractors are clinically competent to examine and diagnose, including radiologically evaluate, patients who have been injured in traffic crashes. Hence, chiropractors may contribute to the diagnosis, management and rehabilitation of spinal injured patients following many types of crashes and accident, including bicycle crashes.
Type A Aortic Dissection With Intramural Hematoma: A Challenging Diagnosis
Authors: Tayseer Kanaan, Ahmed S Abdelrahman, Jihad Jaber, Amr M Fahmi, Awad Almasalmeh, Soliena Alnakawa, Tala Kanaan
Journal: Cureus (2023)
Keywords: acute aortic syndrome, aortic dissection, chest pain, intramural hematoma, type a aortic dissection
MeSH terms: Case Reports

Intramural hematoma (IMH) is considered a part of acute aortic syndromes (AAS), a group of life-threatening aortic diseases with a similar presentation that appears to have different clinical manifestations and pathological and survival characteristics. AAS comprises three major entities, namely, aortic dissection (AD), IMH, and PAU. IMH-like classic AD is classified using Stanford and DeBakey classification systems to indicate the aortic area involved. Early diagnosis and treatment of AAS are crucial for survival; however, diagnosis of IMH may be delayed and challenging due to atypical presentation, investigation findings, and case progression. In this report, we describe a case of delayed and challenging diagnosis of a Stanford type A IMH that was managed surgically with a good outcome.
Two cases of "cannabis acute psychosis" following the administration of oral cannabis
Authors: Bernard Favrat, Annick Ménétrey, Marc Augsburger, Laura E Rothuizen, Monique Appenzeller, Thierry Buclin, Marie Pin, Patrice Mangin, Christian Giroud
Journal: BMC Psychiatry (2005)
MeSH terms: Dronabinol / pharmacology, Hallucinogens / pharmacology, Marijuana Abuse / etiology, Psychoses, Substance-Induced / etiology, Case Reports, Research Support, Non-U.S. Gov't, Acute Disease, Administration, Oral, Adult, Depersonalization / chemically induced, Dronabinol / administration & dosage, Dronabinol / blood, Hallucinogens / administration & dosage, Hallucinogens / blood, Humans, Male, Marijuana Abuse / blood, Marijuana Smoking / epidemiology, Marijuana Smoking / psychology, Paranoid Disorders / chemically induced, Psychoses, Substance-Induced / blood, Hallucinogens, Dronabinol

Background:
Cannabis is the most commonly used illegal drug and its therapeutic aspects have a growing interest. Short-term psychotic reactions have been described but not clearly with synthetic oral THC, especially in occasional users.
Case presentations:
We report two cases of healthy subjects who were occasional but regular cannabis users without psychiatric history who developed transient psychotic symptoms (depersonalization, paranoid feelings and derealisation) following oral administration of cannabis. In contrast to most other case reports where circumstances and blood concentrations are unknown, the two cases reported here happened under experimental conditions with all subjects negative for cannabis, opiates, amphetamines, cocaine, benzodiazepines and alcohol, and therefore the ingested dose, the time-events of effects on behavior and performance as well as the cannabinoid blood levels were documented.
Conclusion:
While the oral route of administration achieves only limited blood concentrations, significant psychotic reactions may occur.
An Atypical Presentation of Lichen Planus-Like Reaction from Pembrolizumab
Authors: Matthew Lee, Nagashree Seetharamu
Journal: Case Rep Dermatol Med (2019)
MeSH terms: Case Reports

Introduction:
With the advent of immunotherapy, a new subtype of side effects called IRAEs or immune related adverse effects have become more common. They may present in various organ systems as colitis, pneumonitis, hypophysitis, and thyroiditis and commonly as dermatological reactions.
Case:
This is a case report of a lung cancer patient that was started on Pembrolizumab and developed shortly after what appeared to be clinically at first pustular psoriasis but on biopsy was confirmed to be lichen planus. She was discontinued on the Pembrolizumab and treated with both systemic and topical steroids and improved.
Conclusion:
This case highlights a cutaneous reaction from Pembrolizumab and the subsequent management that helped resolve her condition but also weighing the benefits against the risk of treatments and potential prognostic implications of having cutaneous side effects.
Single-Cell Differential Network Analysis with Sparse Bayesian Factor Models
Authors: Michael Sekula, Jeremy Gaskins, Susmita Datta
Journal: Front Genet (2022)
Keywords: bayesian, differential network analysis, factor model, gene co-expression network, scrna-seq

Differential network analysis plays an important role in learning how gene interactions change under different biological conditions, and the high resolution of single-cell RNA (scRNA-seq) sequencing provides new opportunities to explore these changing gene-gene interactions. Here, we present a sparse hierarchical Bayesian factor model to identify differences across network structures from different biological conditions in scRNA-seq data. Our methodology utilizes latent factors to impact gene expression values for each cell to help account for zero-inflation, increased cell-to-cell variability, and overdispersion that are unique characteristics of scRNA-seq data. Condition-dependent parameters determine which latent factors are activated in a gene, which allows for not only the calculation of gene-gene co-expression within each group but also the calculation of the co-expression differences between groups. We highlight our methodology's performance in detecting differential gene-gene associations across groups by analyzing simulated datasets and a SARS-CoV-2 case study dataset.
Combination of Cytokine-Induced Killer Cells and Programmed Cell Death-1 Blockade Works Synergistically to Enhance Therapeutic Efficacy in Metastatic Renal Cell Carcinoma and Non-Small Cell Lung Cancer
Authors: Zibing Wang, Xiaoli Liu, Brian Till, Miaomiao Sun, Xiang Li, Quanli Gao
Journal: Front Immunol (2018)
Keywords: cytokine-induced killer cells, immunotherapy, lung cancer, programmed cell death-1, renal cell carcinoma

Introduction:
Programmed cell death-1 (PD-1) inhibition therapy has changed the treatment paradigm of metastatic renal cell carcinoma (MRCC) and non-small cell lung cancer (NSCLC). However, attempts to use the drug as a single agent have achieved only limited clinical success. To further enhance the clinical benefits of monotherapy, combination therapies will likely be necessary. Cytokine-induced killer (CIK) cells are a heterogeneous subset of ex vivo expanded T lymphocytes that have been shown to prolong the survival of cancer patients. We are conducting a study to evaluate the efficacy of PD-1 inhibitor in combination with CIK cells in relapsed/refractory MRCC and NSCLC and to analyze potential biomarkers to predict which patients will benefit most from the combined therapy.
Case presentation:
The results of two patients treated in an ongoing clinical trial for MRCC and NSCLC are described here. The tumor biopsy from Patient 1 exhibited moderate CD3+ T cell infiltration, but no PD-1 or PD-L1 expression. The tumor cells from Patient 2 strongly expressed PD-L1, and there was extensive tumor infiltration by CD3+ T cells; however, no PD-1 staining was seen. Non-synonymous single nucleotide variant (nsSNVs), along with higher indel mutations, in Patient 1 and nsSNVs along with higher tumor mutation burden in Patient 2 correlate with tumor-infiltrating CD3+ lymphocyte density. Patient 1 achieved a complete response, and Patient 2 achieved a near-complete response.
Conclusion:
A PD-1 inhibitor in combination with CIK cells led to potent antitumor activity in MRCC and NSCLC; CD3+ T cell infiltration in baseline tumor biopsies is a potential predictive biomarker. This approach is being further investigated in an ongoing phase I trial.
Ectodermal dysplasia (ED) syndrome
Authors: Siew-Yin Chee, Chung-Hsing Wanga, Wei-De Lina, Fuu-Jen Tsaia
Journal: Biomedicine (Taipei) (2014)
Keywords: ectodermal dysplasia (ed)

Ectodermal dysplasia (ED) syndrome comprises a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from the embryonic ectoderm. The tissues primarily involved are the skin and its appendages (including hair follicles, eccrine glands, sebaceous glands, nails) and teeth. The clinical features include sparse hair, abnormal or missing teeth, and an inability to sweat due to lack of sweat glands. One such case report of ectodermal dysplasia is presented here.
The Role of Proton Pump Inhibitors in the Management of Pediatric Eosinophilic Esophagitis
Authors: Carolina Gutiérrez-Junquera, Sonia Fernández-Fernández, M Luz Cilleruelo, Ana Rayo, Enriqueta Román
Journal: Front Pediatr (2018)
Keywords: eosinophilic esophagitis, esophageal eosinophilia, gastroesophageal reflux disease, pediatrics, proton pump inhibitors
MeSH terms: Review

Eosinophilic esophagitis (EoE) is a chronic, local, immune-mediated disorder characterized by symptoms of esophageal dysfunction and the presence of a dense eosinophilic infiltrate in the esophageal mucosa. Consensus diagnostic recommendations for EoE diagnosis included absence of histological response to a proton-pump inhibitor (PPI) trial, to exclude gastro-oesophageal reflux disease (GERD)-associated esophagitis. This recommendation exposed an entity known as "proton pump inhibitor-responsive esophageal eosinophilia" (PPI-REE), which refers to patients with EoE phenotype who are PPI-responsive and do not present GERD. In recent years, there is evidence which indicates that PPI-REE is a sub-phenotype of EoE with similar clinical, endoscopic, histological and genetic characteristics, as well as Th2-related inflammatory response. As a result, PPIs should be considered another treatment for EoE and not a diagnostic tool. PPI-REE was originally described in a case series which included two children and in two retrospective pediatric series. Later, a prospective pediatric study showed a high rate of response to PPIs at high doses with long-term maintenance at lower doses. PPI monotherapy in children with esophageal eosinophilia (EE) has been observed to reduce eotaxin-3 expression in epithelial cells and to practically reverse the allergy and inflammatory transcriptome. These data reveal that PPIs are also an effective treatment for EoE in pediatric patients, although more studies are necessary in order to define the best induction and maintenance treatment regimen, the long-term safety profile and their influence on the occurrence of fibrosis and esophageal remodeling.
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature
Authors: Boaz Palterer, Lorenzo Salvati, Manuela Capone, Valentina Mecheri, Laura Maggi, Alessio Mazzoni, Lorenzo Cosmi, Nila Volpi, Lucia Tiberi, Aldesia Provenzano, Sabrina Giglio, Paola Parronchi, Giandomenico Maggiore, Oreste Gallo, Alessandro Bartoloni, Francesco Annunziato, Lorenzo Zammarchi, Francesco Liotta
Journal: Front Immunol (2022)
Keywords: cd40lg gene, cd40lg mutation, cpt2 deficiency, cpt2 gene, leishmania, wes - whole-exome sequencing, hyper-igm immunodeficiency syndrome, leishmaniasis
MeSH terms: Agammaglobulinemia, Cryptosporidiosis, Cryptosporidium, Hyper-IgM Immunodeficiency Syndrome, Hyper-IgM Immunodeficiency Syndrome, Type 1 / diagnosis, Hyper-IgM Immunodeficiency Syndrome, Type 1 / genetics, Hyper-IgM Immunodeficiency Syndrome, Type 1 / pathology, Leishmaniasis, Case Reports, Adult, CD40 Ligand / genetics, Humans, Immunoglobulin M, Male, Immunoglobulin M, CD40 Ligand

X-linked hyper-IgM (XHIGM) syndrome is caused by mutations of the CD40LG gene, encoding the CD40L protein. The clinical presentation is characterized by early-onset infections, with profound hypogammaglobulinemia and often elevated IgM, susceptibility to opportunistic infections, such as Pneumocystis jirovecii pneumonia, biliary tract disease due to Cryptosporidium parvum, and malignancy. We report a 41-year-old male presenting with recurrent leishmaniasis, hypogammaglobulinemia, and myopathy. Whole-exome sequencing (WES) identified a missense variant in the CD40LG gene (c.107T>A, p.M36K), involving the transmembrane domain of the protein and a missense variant in the carnitine palmitoyl-transferase II (CPT2; c.593C>G; p.S198C) gene, leading to the diagnosis of hypomorphic XHIGM and CPT2 deficiency stress-induced myopathy. A review of all the previously reported cases of XHIGM with variants in the transmembrane domain showcased that these patients could present with atypical clinical features. Variants in the transmembrane domain of CD40LG act as hypomorphic generating a protein with a lower surface expression. Unlike large deletions or extracellular domain variants, they do not abolish the interaction with CD40, therefore preserving some biological activity.
Low-cost customized cranioplasty using a 3D digital printing model: a case report
Authors: Abel De La Peña, Javier De La Peña-Brambila, Juan Pérez-De La Torre, Miguel Ochoa, Guillermo J Gallardo
Journal: 3D Print Med (2018)
Keywords: cranial implant, cranial vault reconstruction, cranioplasty, low cost prosthesis 3d printing, pmma prosthesis, polymethylmethacrylate resin, skull defects

Background:
Cranial defects usually occur after trauma, neurosurgical procedures like decompressive craniotomy, tumour resections, infection and congenital defects. The purpose of cranial vault repair is to protect the underlying brain tissue, to reduce any localized pain and patient anxiety, and improve cranial aesthetics. Cranioplasty is a frequent neurosurgical procedure achieved with the aid of cranial prosthesis made from materials such as: titanium, autologous bone, ceramics and polymers. Prosthesis production is often costly and requires complex intraoperative processes. Implant customized manufacturing for craniopathies allows for a precise and anatomical reconstruction in a shorter operating time compared to other conventional techniques. We present a simple, low-cost method for prosthesis manufacturing that ensures surgical success.
Case presentation:
Two patients with cranial defects are presented to describe the three-dimensional (3D) printing technique for cranial reconstruction. A digital prosthesis model is designed and manufactured with the aid of a 3D computed tomography. Both the data of large sized cranial defects and the prosthesis are transferred to a 3D printer to obtain a physical model in poly-lactic acid which is then used in a laboratory to cast the final customised prosthesis in polymethyl methacrylate (PMMA).
Conclusions:
A precise compliance of the prosthesis to the osseous defect was achieved. At the 6 month postoperative follow-up no complications were observed i.e. rejection, toxicity, local or systemic infection, and the aesthetic change was very significant and satisfactory. Customized 3D PMMA prosthesis offers cost advantages, a great aesthetic result, reduced operating time and good biocompatibility.
Lengthy complex lumbar fusion surgery in high-risk elderly patient under spinal anesthesia: A case report
Authors: Ryan A Curto, Charles C Edwards 2nd, Charles Lin, Charles H Brown 4th
Journal: Int J Surg Case Rep (2019)
Keywords: case report, geriatric, lumbar fusion, spinal anesthesia, spine surgery

Introduction:
Spinal Anesthesia (SA) continues to be an emerging technique for lumbar fusion surgery in the elderly population. SA is an appealing option in the high-risk geriatric population for several reasons, including the potential for reduced systematic stress, reduced blood loss, and reduced post-operative delirium. The safe limits of spine surgery under SA remain undetermined.
Presentation of case:
The following case-study describes an elderly high-risk patient (ASA III) with severe spinal stenosis and degenerative scoliosis who presented with lower back and right leg pain and underwent a 3-level lumbar fusion surgery with spinal anesthesia. The procedure lasted 3 h and 44 min with sufficient anesthesia maintained throughout. The patient experienced minor post-operative complications, but had an excellent clinical outcome at 3-month follow-up.
Discussion:
Further research should be conducted to define the temporal limits of SA in elderly patients and the etiology of post-operative complications following lumbar fusion surgery under spinal anesthesia in the geriatric population.
Conclusion:
The case reported, herein, demonstrates the feasibility of SA in elderly patients undergoing lengthy complex lumbar surgeries who have been designated "high-risk" patients (ASA > II) and provides support for future investigation into surgical and anesthesia treatment options for geriatric high-risk patients presenting with complex lumbar spine pathologies.
Emergency closed reduction of a c4/5 fracture dislocation with complete paraplegia resulting in profound neurologic recovery
Authors: Christian W Müller, Sebastian Decker, Roland Thietje, Christian Krettek
Journal: Case Rep Orthop (2013)

Introduction. Cervical spinal cord injuries due to traumatic fractures are associated with persistent neurological deficits. Although clinical evidence is weak, early decompression, defined as <24-72 h, has been frequently proposed. Animal studies show better outcomes after early decompression within one hour or less, which can hardly ever be achieved in clinical practice. Case Presentation. A 37-year-old patient was hospitalized after being hit by a shying horse. After diagnosis of C4/5 fracture dislocation and complete paraplegia, she was intubated and sedated with deep relaxation. Emergency reduction was performed at approximately 120 minutes after trauma. Subsequently, a standard anterior decompression, discectomy, and fusion were carried out. She was then transferred to a specialized rehabilitation hospital. Her neurologic function improved from AIS grade A on admission to grade B postoperatively and grade D after four months of rehabilitation. One year after the accident, she was ambulatory without walking aids and restarted horse riding. Discussion and Conclusion. Rarely in clinical practice, decompression of the spine canal can be performed as early as in this case. This case highlights the potential benefit of utmost early reduction in cervical fracture dislocations with compression of the spinal cord.
Late recurrence of Burkitt's lymphoma in the jaw: numb chin syndrome as the only symptom
Authors: Bernar Monteiro Benites, Wanessa Miranda-Silva, André Caroli Rocha, Ula Lindoso Passos, Felipe Paiva Fonseca, Celso Arrais Rodrigues da Silva, Eduardo Rodrigues Fregnani
Journal: Autops Case Rep (2020)
Keywords: b-lymphocytes, burkitt lymphoma, hypesthesia, recurrence
MeSH terms: Case Reports

The Numb Chin Syndrome (NCS) is defined as facial and oral numbness restricted to the mental nerve's distribution involving the lower lip, skin of the chin, or gingiva of the lower anterior teeth. Hypoesthesia can occur unilaterally or bilaterally. Although this syndrome is rare, its importance is related to the fact that it represents the clinical manifestations of malignant diseases. Breast cancer and non-Hodgkin lymphoma are the most common cause of NCS. The patient, a 58-year-old woman, treated for a Burkitt Lymphoma (BL) nine years ago, described a two-week history of change in sensitivity and pain in the chin region, without relief with the use of analgesics. She had no headache, speech disturbance, dysphagia, visual disturbance, or other neurological symptoms. No surgical intervention has been performed recently. The intraoral examination revealed a healthy oral mucosa and a small area adjacent to the right mental nerve region that was uncomfortable to palpation. No changes were found in the bone trabeculae at cone-beam computed tomography. The contrasted magnetic resonance features made it possible to identify a change in the mandibular body extending to the entire right side, coinciding with the patient's complaint, indicating a probable mandibular medullary invasion. The patient was submitted to a biopsy to rule out a possible recurrence of BL. The microscopic findings were consistent with the diagnosis of BL. The present report described a very unusual presentation of late recurrent BL nine years after the first treatment, which manifested as an NCS.