OpenMed/multicare-articles huggingface dataset:
Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings
Authors: Aixiang Luo, Dehua Cheng, Shimin Yuan, Haiyu Li, Juan Du, Yang Zhang, Chuanchun Yang, Ge Lin, Wenyong Zhang, Yue-Qiu Tan
Journal: Mol Cytogenet (2018)
Keywords: congenital anomaly, insertional translocation, pure 1q43-q44 deletion/duplication, whole-genome sequencing
MeSH terms: Case Reports

Background:
1q43-q44 deletion syndrome is a well-defined chromosomal disorder which is characterized by moderate to severe mental retardation, and variable but characteristic facial features determined by the size of the segment and the number of genes involved. However, patients with 1q43-q44 duplication with a clinical phenotype comparable to that of 1q43-q44 deletion are rarely reported. Moreover, pure 1q43-q44 deletions and duplications derived from balanced insertional translocation within the same family with precisely identified breakpoints have not been reported.
Case presentation:
The proband is a 6-year-old girl with profound developmental delay, mental retardation, microcephaly, epilepsy, agenesis of the corpus callosum and hearing impairment. Her younger brother is a 3-month-old boy with macrocephaly and mild developmental delay in gross motor functions. G-banding analysis of the subjects at the 400-band level did not reveal any subtle structural changes in their karyotypes. However, single-nucleotide polymorphism (SNP) array analysis showed a deletion and a duplication of approximately 6.0 Mb at 1q43-q44 in the proband and her younger brother, respectively. The Levicare analysis pipeline of whole-genome sequencing (WGS) further demonstrated that a segment of 1q43-q44 was inserted at 14q23.1 in the unaffected mother, which indicated that the mother was a carrier of a 46,XX,ins(14;1)(q23.1;q43q44) insertional translocation. Moreover, Sanger sequencing was used to assist the mapping of the breakpoints and the final validation of those breakpoints. The breakpoint on chromosome 1 disrupted the EFCAB2 gene in the first intron, and the breakpoint on chromosome 14 disrupted the PRKCH gene within the 12th intron. In addition, fluorescence in situ hybridization (FISH) further confirmed that the unaffected older sister of the proband carried the same karyotype as the mother.
Conclusion:
Here, we describe a rare family exhibiting pure 1q43-q44 deletion and duplication in two siblings caused by a maternal balanced insertional translocation. Our study demonstrates that WGS with a carefully designed analysis pipeline is a powerful tool for identifying cryptic genomic balanced translocations and mapping the breakpoints at the nucleotide level and could be an effective method for explaining the relationship between karyotype and phenotype.
Dilemmas in the management of screen-detected lesions in patients at high risk for pancreatic cancer
Authors: Isaura S Ibrahim, Bert A Bonsing, Rutger-Jan Swijnenburg, Lieke Welling, Roeland A Veenendaal, Martin N J M Wasser, Hans Morreau, Akin Inderson, Hans F A Vasen
Journal: Fam Cancer (2017)
Keywords: cdkn2a mutation, complications, genetic predisposition, pdac, pancreatic ductal adenocarcinoma, pylorus-preserving pancreaticoduodenectomy, surveillance, p16-leiden mutation
MeSH terms: Carcinoma, Pancreatic Ductal / diagnostic imaging, Pancreatic Neoplasms / diagnostic imaging, Case Reports, Carcinoma, Pancreatic Ductal / genetics, Carcinoma, Pancreatic Ductal / pathology, Cyclin-Dependent Kinase Inhibitor p16, Cyclin-Dependent Kinase Inhibitor p18 / genetics, Heterozygote, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Pancreatic Neoplasms / genetics, Pancreatic Neoplasms / pathology, Tomography, X-Ray Computed, CDKN2A protein, human, Cyclin-Dependent Kinase Inhibitor p16, Cyclin-Dependent Kinase Inhibitor p18

In 3-5 % of all cases of pancreatic ductal adenocarcinoma (PDAC), hereditary factors influence etiology. While surveillance of high-risk individuals may improve the prognosis, this study describes two very different outcomes in patients with screen-detected lesions. In 2000, a surveillance program of carriers of a CDKN2A/p16-Leiden-mutation consisting of annual MRI was initiated. Patients with a suspected pancreatic lesion undergo CT-scan and Endoscopic Ultrasound, and surgery is offered when a lesion is confirmed. In 2015, two patients with a screen-detected solid lesion were identified. In both patients, lesions were visible on MRI and CT scan, while the EUS was unremarkable. Surgical resection of the head of the pancreas resulted in nearly fatal complications in the first patient. This patient was shown to have a benign lesion. In contrast, timely identification of an early cancer in the second patient was accompanied by an uneventful postoperative course. These cases underline the risks inherent to a PDAC prevention program. All patients should be fully informed about the possible outcomes before joining a surveillance program.
A Case Report of Dental Implants and Site Augmentation in a Patient with Erosive Lichen Planus
Authors: Abdulrahman Aseri
Journal: Case Rep Dent (2022)
MeSH terms: Case Reports

Lichen planus (LP) is an autoimmune inflammatory disease that affects oral mucosal tissue, leading to complications in patients treated with dental implant therapy. This case report discusses the clinical management of a patient diagnosed with an erosive type of LP. After disease management, the patient was treated with dental implants in the upper and lower jaws with augmentation procedures around the implants. All implants were loaded after a three-month period of healing. Slight bone loss was observed in the upper premolar area following an exaggerated soft tissue response to the augmentation procedure. Within one year of implant placement, no additional complications were encountered.
Sonographic detection of pneumoperitoneum
Authors: Marlom Khor, Joshua Cutten, Joel Lim, Yuranga Weerakkody
Journal: BJR Case Rep (2017)
MeSH terms: Case Reports

Accurate and timely detection of a perforated hollow viscus is crucial and has profound consequences for the patient with an acute abdomen. While a CT scan can provide an accurate diagnosis, the increasingly indiscriminate use of this modality sparks concern regarding radiation dosing, its associated safety concerns and its timely occurrence. There are distinct and readily reproducible findings of pneumoperitoneum on ultrasound. However, sonographers should be trained to detect pneumoperitoneum or patients may be discharged with false-negative results. This case report supports such a view and investigates the current literature surrounding this issue.
Fulminant Diabetes in a Patient with Advanced Melanoma on Nivolumab
Authors: Nora Chokr, Hafsa Farooq, Elizabeth Guadalupe
Journal: Case Rep Oncol Med (2018)
MeSH terms: Case Reports

Background:
Anti-PD-1 agents were approved for advanced melanoma after the landmark trial Checkmate-037. Anti-PD-1 agents can breach immunologic tolerance. Fulminant diabetes is an immune endocrinopathy that results from a violent immune attack leading to complete destruction of pancreatic beta cells in genetically predisposed people. We present a rare case of fulminant diabetes precipitated by anti-PD-1 immunotherapy.
Case:
A 61-year-old male with advanced melanoma presented with a three-day history of nausea, vomiting, and malaise. He was started on nivolumab and ipilimumab. After the third dose, he developed a generalized rash and was prescribed high-dose prednisone. Labs revealed potassium 9.5 mmol/L, sodium 127 mmol/L, bicarbonate <10 mmol/L, blood glucose 1211 mg/dL, anion gap >31 mmol, arterial blood pH 7.14, and beta-hydroxybutyrate 13.7 mmol/L. He was diagnosed with diabetic ketoacidosis. Hemoglobin A1C was 6.9%. C-peptide was undetectable (<0.1 ng/ml). Glutamic acid decarboxylase autoantibodies, zinc transporter 8 autoantibodies, insulin autoantibodies, islet antigen 2 autoantibodies, and islet cell antibodies were all negative.
Conclusion:
Anti-PD-1 immunotherapy is effective in cancers refractory to standard chemotherapy. These agents can precipitate autoimmune disorders. As the use of anti-PD-1 agents is expected to rise, physicians should be educated about the potential side effects. We recommend conducting routine blood glucose checks in patients on these agents.
Granulomatosis with Polyangiitis Overlapping with IgG4-Related Disease
Authors: Aureliano Pistone, Muhammad Soyfoo
Journal: Case Rep Rheumatol (2022)
MeSH terms: Case Reports

IgG4-related disease and granulomatosis with polyangiitis share several features as well as the presence of ANCA antibodies and serum IgG4 immunoglobulins. It is often difficult to distinguish between two entities. We hereby report the case of a patient portraying the clinical conundrum with clinical and biological features of the two diseases.
Treatment of Acute Psychosis with Second-Generation Antipsychotics in a Patient with Left Temporal Lobe Lesion
Authors: Richard Shehane, Steve Miller, Luke Suber, Miranda Chakos
Journal: Case Rep Psychiatry (2018)
MeSH terms: Case Reports

We present a case of rapid onset severe psychosis followed by suicide attempt in a United States Navy sailor. Investigation revealed a left temporal lobe brain mass suspicious for low-grade glioma. After hospitalization and medical management with olanzapine and lurasidone the patient's psychosis improved. The purpose of this paper is to add to the existing case reports that suggest a relationship between temporal lobe lesions and psychiatric illness, specifically psychosis. In addition, this case adds insight into the effectiveness of medical therapy for brain tumor patients that are not immediate candidates for neurosurgical intervention.
Fibrodysplasia ossificans progressiva with two emergency laparotomies: A case report
Authors: Nobuyuki Okamoto, Tatsuya Tazaki, Ryuta Shintakuya, Toshinori Hirano, Masaru Sasaki, Shinya Takahashi, Astushi Nakamitsu
Journal: Int J Surg Case Rep (2020)
Keywords: case report, fibrodysplasia ossificans progressiva, general surgery, heterotopic ossification
MeSH terms: Case Reports

Introduction:
Fibrodysplasia ossificans progressiva (FOP) is a disorder causing progressive heterotopic ossification of muscles, tendons, and ligaments. Invasive procedures such as surgery should be avoided, because physical stimulation causes heterotopic ossification.
Presentation of case:
A 40-year-old Japanese man with FOP was transported to our hospital with sudden abdominal pain. Emergency surgery was performed because a computed tomography scan showed the presence of intraabdominal free air. We diagnosed peritonitis due to perforation of Meckel's diverticulum and performed a small intestinal resection. The day after surgery, airway obstruction was recognized, and tracheostomy was required. Six months after surgery, a strangulated small bowel obstruction developed, and a second laparotomy was performed. As the patient continued to have difficulty swallowing, we constructed a gastrostomy at the time of the second surgery. He was discharged with no complications.
Discussion:
Ossification of the abdominal incision wound due to surgical invasion was suspected, but it did not occur in the short term.
Conclusion:
Two laparotomies could be performed safely in a patient with FOP.
Liquid levothyroxine formulations in patients taking drugs interfering with L-T4 absorption
Authors: Elisa Gatta, Francesca Bambini, Caterina Buoso, Maria Gava, Virginia Maltese, Valentina Anelli, Andrea Delbarba, Ilenia Pirola, Carlo Cappelli
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: interfering drugs, levothyroxine, levothyroxine malabsorption, liquid levothyroxine, softgel capsules
MeSH terms: Thyroid Gland, Thyroxine / therapeutic use, Review, Capsules, Drug Compounding, Humans, Proton Pump Inhibitors, Thyroxine, Capsules, Proton Pump Inhibitors

Purpose:
To describe the current knowledge on thyroid hormonal profile in patients on liquid L-T4 therapy and drugs known to interfere with L-T4 absorption.
Methods:
A PubMed/MEDLINE, Web of Science, and Scopus research was performed. Case reports, case series, original studies and reviews written in English and published online up to 31 August 2022 were selected and reviewed. The final reference list was defined based on the relevance of each paper to the scope of this review.
Results:
The available data showed that novel levothyroxine formulations circumvent gastric pH impairment due to multiple interfering drugs such as proton pump inhibitors, calcium or iron supplements, sevelamer, aluminum/magnesium hydroxide and sodium alginate.
Conclusion:
New formulations can be taken simultaneously with drugs interfering with L-T4 absorption, in particular liquid formulations. Softgel capsules need more studies to support these data.
Chickenpox at Ninety Four: A Case for Extending the Use of Varicella Vaccine in the UK
Authors: Justin Bendig, Fiona Sindall
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

A case of chickenpox in a 94-year-old female is described. Serological tests for Varicella zoster virus (VZV) performed on early and late serum samples confirmed primary VZV infection. The patient recovered but seventeen days after presentation she developed a stroke from which she subsequently died. Chickenpox in older people is relatively rare-this case may be the oldest case of laboratory-proven chickenpox described-but it is a life-threatening illness. The varicella vaccine is licensed for use in immunocompetent persons of 12 months of age or older but in the UK is only offered to susceptible healthcare workers and close contacts of immunocompromised patients. In the US, the vaccine is recommended for all susceptible adolescents and adults. The same recommendation should be made in the UK.
Postoperative Submandibular Gland Swelling following Craniotomy under General Anesthesia
Authors: Haruka Nakanishi, Tetsuya Tono, Shoichiro Ibusuki
Journal: Case Rep Otolaryngol (2015)

Objective. Reporting of a rare case of postoperative submandibular gland swelling following craniotomy. Case Report. A 33-year-old male underwent resection for a brain tumor under general anesthesia. The tumor was resected via a retrosigmoid suboccipital approach and the patient was placed in a lateral position with his face down and turned to the right. Slight swelling of the right submandibular gland was observed just after the surgery. Seven hours after surgery, edematous change around the submandibular gland worsened and he required emergent reintubation due to airway compromise. The cause of submandibular gland swelling seemed to be an obstruction of the salivary duct due to surgical positioning. Conclusion. Once submandibular swelling and edematous change around the submandibular gland occur, they can worsen and compromise the air way within several hours after operation. Adequate precaution must be taken for any predisposing skull-base surgery that requires strong cervical rotation and flexion.
Management of life-threatening hemoptysis
Authors: Hasmeena Kathuria, Helen M Hollingsworth, Rajendran Vilvendhan, Christine Reardon
Journal: J Intensive Care (2020)
Keywords: bronchial artery embolization (bae), bronchoscopy, life-threatening hemoptysis, massive hemoptysis
MeSH terms: Review

It is estimated that 5-14% of patients presenting with hemoptysis will have life-threatening hemoptysis, with a reported mortality rate between 9 and 38%. This manuscript provides a comprehensive literature review on life-threatening hemoptysis, including the etiology and mechanisms, initial stabilization, and management of patients. There is no consensus on the optimal diagnostic approach to life-threatening hemoptysis, so we present a practical approach to utilizing chest radiography, computed tomography, and bronchoscopy, alone or in combination, to localize the bleeding site depending on patient stability. The role of angiography and embolization as well as bronchoscopic and surgical techniques for the management of life-threatening hemoptysis is reviewed. Through case presentation and flow diagram, an overview is provided on how to systematically evaluate and treat the bronchial arteries, which are responsible for hemoptysis in 90% of cases. Treatment options for recurrent hemoptysis and definitive management are discussed, highlighting the role of bronchial artery embolization for recurrent hemoptysis.
Congenital adrenal hyperplasia presented with bilateral testicular tumor: A case report
Authors: Abazar Akbarzadeh Pasha, Hamid Shafi, Mohamad Teimorian, Ghasem Rostami, Khatereh Nasirimehr, Emadoddin Moudi
Journal: Caspian J Intern Med (2021)
Keywords: adrenal rest tumor, congenital adrenal hyperplasia, leydig cell tumor
MeSH terms: Case Reports

Background:
Congenital adrenal hyperplasia (CAH) refers to group of congenital diseases resulting from impaired adrenal steroidogenesis, and its most common cause is 21-hydroxylase deficiency. Testicular adrenal residual tumor (TART) is one of the major complications of CAH, possibly resulting from ectopic remnants of intra-testicular adrenal tissue which is stimulated by excessive secretion of adrenocorticotropic hormone (ACTH). This tumor can be misdiagnosed as Leydig cell tumor (LCT) in these people.
Case presentation:
The patient we are presenting is a 20-year-old man with a history of precocious puberty and a height below 3% of the population who underwent radical left testicular orchiectomy with a complaint of bilateral testicular mass, which is reported LCT in the pathology report. In preoperative imaging examinations, bilateral adrenal hyperplasia is observed. In hormonal examinations, the patient is diagnosed with CAH and has been treated with corticosteroids for one year.
Conclusion:
In patients who present with bilateral testicular mass, it is the best image by abdominopelvic CT scan before surgery to detect CAH.
Rehabilitation of Patient with Acquired Maxillary Defect, using a Closed Hollow Bulb Obturator
Authors: Abhilasha S Bhasin, Virendra Singh, Sneha S Mantri
Journal: Indian J Palliat Care (2011)
Keywords: definitive closed hollow bulb obturator, hemimaxillectomy, maxillectomy, palliative care, retention, stability
MeSH terms: Case Reports

Palliative care means providing support and care for patients with life-threatening or debilitating illness so that they can live their life as comfortably as possible. The fact that cure is no longer a reality does not mean that care cannot be made available. Partial maxillectomy defect presents a prosthodontic challenge in terms of re-establishing oronasal separation. Such defect has direct effect on cosmetic, function and psychology of the patient. This article describes step by step clinical and laboratory procedures involved in the rehabilitation of a hemimaxillectomy patient, using a definitive closed hollow bulb obturator, which improved his physical, emotional, functional, social and spiritual needs.
Have You Ever Seen the Impact of Crossing Fiber in DTI?: Demonstration of the Corticospinal Tract Pathway
Authors: Dong-Hoon Lee, Ji Won Park, Sung-Hee Park, Cheolpyo Hong
Journal: PLoS One (2015)
MeSH terms: Abnormalities, Multiple / pathology, Cerebrum / pathology, Hand / physiopathology, Intellectual Disability / pathology, Malformations of Cortical Development / pathology, Motor Cortex / pathology, Nerve Fibers / pathology, Pyramidal Tracts / pathology, Case Reports, Research Support, Non-U.S. Gov't, Abnormalities, Multiple / diagnosis, Abnormalities, Multiple / physiopathology, Anisotropy, Case-Control Studies, Cerebrum / physiopathology, Child, Diffusion Tensor Imaging, Female, Hand / innervation, Hand / pathology, Humans, Intellectual Disability / diagnosis, Intellectual Disability / physiopathology, Malformations of Cortical Development / diagnosis, Malformations of Cortical Development / physiopathology, Motor Cortex / physiopathology, Pyramidal Tracts / physiopathology, Perisylvian syndrome

Objective:
The identification of the corticospinal tract (CST) pathway with a deterministic fiber tracking approach is limited because of crossing fibers, especially for the hand fibers of the CST due to the crossing superior longitudinal fasciculus (SLF). We examined a patient with congenital bilateral perisylvian syndrome (CBPS) who did not have the SLF, in order to visualize CST hand fibers that were not affected by crossing fibers.
Methods:
A 10-year-old girl without the SLF due to CBPS and three normal healthy subjects participated in this study. We used a deterministic fiber tracking algorithm, and the regions of interest (ROIs) were drawn in the posterior limb of internal capsule (PLIC) and the primary motor cortex. The apparent diffusion coefficient (ADC), fractional anisotropy (FA), relative anisotropy (RA), and volume ratio (VR) were measured based on the extracted fiber tracts.
Results:
The ADC values were not different between the normal subjects and the patient with CBPS. The FA, RA, and VR values of the normal subjects were similar, but were relatively higher than those of the patient with CBPS.
Conclusion:
Our results clearly show the impact of the crossing fiber for the hand motor fibers of the CST pathway with deterministic tracking algorithms in diffusion tensor tractography.
An Unusual Case of Huge Tophaceous Pseudogout Mimicking as a Tumor-Like Lesion around the Ankle Joint: A Case Report and Literature Review
Authors: Mohammed Sadiq, Mayur Nayak, Ayesha Farheen, Vijay Digge
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Pseudogout or calcium pyrophosphate dihydrate deposition disease (CPPD) primarily affects the joints and the periarticular tissues. Tophaceous or tumoral pseudogout is a rare form of this disease which is seen around the joints of extremities. It can be misdiagnosed as a neoplastic condition because of its clinicoradiological similarities, and thus, a proper histopathological examination is indispensable. We report one such case of extra-articular deposition of the CPPD crystals in a 65-year-old man who presented with an asymptomatic swelling around the left ankle. Radiographs showed a dense homogenous calcification, and FNAC revealed dense calcium deposits with numerous rhomboid-shaped crystals. It was managed by en bloc excision, and postoperative biopsy reports confirmed the diagnosis. Possibility of pseudogout should be kept as a differential diagnosis in patients presenting with calcified soft tissue swellings and should be subjected to a detailed histopathological examination for confirmation.
Active removal of anterior segment-migrated dexamethasone implant (Ozurdex®)
Authors: Jozef Adelson M Depla, Marc Veckeneer, Isabel Bleyen
Journal: GMS Ophthalmol Cases (2022)
Keywords: ozurdex, dexamethasone, implant, migration
MeSH terms: Case Reports

Background: Ozurdex® (Allergan plc., Dublin, Ireland) is an intravitreal sustained-release dexamethasone (DEX) implant. The implant has been reported to migrate into the anterior chamber, potentially causing corneal decompensation. Prompt removal or relocation in the vitreous cavity is advised but troublesome due to its fragility. Several techniques exist, but elaborate setup and specialized surgical skills that are required may cause delay in treatment. We report a novel technique that avoids these shortcomings. Case presentation: A 59-year-old woman presented to the emergency department with visual loss due to an anterior chamber-migrated DEX implant and corneal edema. Using an ophthalmic viscosurgical device (OVD) and a bent 19-gauge needle, the implant has promptly been removed in a one-minute procedure under topical anesthesia. Conclusion: Aspirating an anterior chamber-migrated DEX implant using a 19-gauge bent needle is a cost-effective, time-efficient and safe technique, not requiring specialized surgical skills.