OpenMed/multicare-articles huggingface dataset:
Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene
Authors: Maria Cristina Campopiano, Antonella Fogli, Angela Michelucci, Laura Mazoni, Antonella Longo, Simona Borsari, Elena Pardi, Elena Benelli, Chiara Sardella, Laura Pierotti, Elisa Dinoi, Claudio Marcocci, Filomena Cetani
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: col1a1, wnt signaling, fracture, osteogenesis imperfecta, teriparatide
MeSH terms: Osteogenesis Imperfecta / genetics, Osteoporosis / drug therapy, Osteoporosis / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Bone Density / genetics, Female, Humans, Lumbar Vertebrae, Pregnancy, Teriparatide / therapeutic use, Teriparatide

The WNT1 gene is crucial for bone development and homeostasis. Homozygous mutations in WNT1 cause severe bone fragility known as osteogenesis imperfecta type XV. Moreover, heterozygous WNT1 mutations have been found in adults with early-onset osteoporosis. We identified a 35 year-old Caucasian woman who experienced multiple vertebral fractures two months after her second pregnancy. There was no history of risk factors for secondary osteoporosis or family history of osteoporosis. Dual-energy X-ray absorptiometry confirmed a marked reduction of bone mineral density (BMD) at the lumbar spine (0.734 g/cm2, Z-score -2.8), femoral neck (0.48 g/cm2, Z-score -3.5), and total hip (0.589 g/cm2, Z-score -3.0). Blood tests excluded secondary causes of bone fragility. Genetic analysis revealed a heterozygous missense mutation (p.Leu370Val) in the WNT1 gene. Varsome classified it as a variant of uncertain significance. However, the fact that the Leucine residue at position 370 is highly conserved among vertebrate species and the variant has a very low allelic frequency in the general population would exclude the possibility of a polymorphism. The patient was treated for two years with teriparatide therapy associated with calcium and vitamin D supplements. During the follow-up period she did not report further clinical fractures. After 24 months of teriparatide, BMD increased at lumbar spine (+14.6%), femoral neck (+8.3%) and total hip (+4.9%) compared to baseline. We confirm that the heterozygous WNT1 mutation could cause a variable bone fragility and low turnover osteoporosis. We suggest that teriparatide is one of the most appropriate available therapies for this case.
Open globe injury with an interesting intra-ocular foreign body
Authors: Ekjyot Gill, Matthew Shulman, Sid Schechet, Lawson Grumbine
Journal: GMS Ophthalmol Cases (2017)
MeSH terms: Case Reports

Introduction: Cases of penetrating ocular trauma due to osseous material are limited, so reported incidents are valuable in determining outcomes and proper treatment courses. Case description: We report a case of an open globe injury of the left eye with an intraocular foreign body occurring after a firework exploded in the hand of a 22-year-old man. The patient presented with light perception vision in the injured eye with a full-thickness limbal laceration and dense hyphema obscuring fundoscopy. CT scan revealed a hyperdense foreign body juxtaposed to the lens. Immediate surgical intervention to repair the globe rupture revealed a defect in the anterior capsule and small, white objects in the posterior chamber that were promptly removed. Pathologic investigation determined these fragments to be cortical bone likely from the patient's phalanges. Results and discussion: There was no evidence of endophthalmitis or keratitis from time of injury to the five-month follow-up, suggesting that the risk of infection may be low and therefore it may be reasonable to manage these injuries with a period of observation.
Endocervical Carcinogenesis and HPV Vaccination: An Occasional Circumstance or a Gap in the Chain?
Authors: Georgios-Marios Makris, Petros Karakitsos, Eugenia Kotsifa, Niki Margari, Nikiforita Poulakaki, Theodoros N Sergentanis, Marco-Johannes Battista, Charalampos Chrelias, Nicolaos Papantoniou
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

As a result of the Human Papillomavirus (HPV) vaccination program, the prevalence of precancerous dysplasia and invasive cervical cancer has substantially decreased. In this brief report, we present a case of a young patient who was diagnosed with in situ adenocarcinoma of the cervix. This 30-year-old female had completed the HPV vaccination after she became sexually active and has been undergoing annual gynecological assessments, including clinical examination and Pap test, all of which had been negative. This year, her Pap test revealed a low grade squamous intraepithelial lesion (LGSIL) and additionally a colposcopy was performed. Given the extent of the lesion and since the colposcopy was inadequate, the patient underwent a type 3 large loop excision of the transformation zone and a curettage of the endocervix under local anesthesia. The pathological diagnosis from cervical biopsy revealed an in situ adenocarcinoma of the endocervix with negative limits. The HPV subtypes 16 and 83 were detected with PCR. After proper consultation she decided to preserve her fertility and to undergo a regular follow-up, postponing hysterectomy after the completion of her family planning. In conclusion, this case report highlights the need for diagnostic surveillance regarding HPV-related cervical cancer even after vaccination.
Case Report: Markedly Long-Term Preservation of Pancreatic β-Cell Function in a Subject With Elderly Onset of Type 1 Diabetes Mellitus Showing High-Titer Autoimmune Antibodies for Over 4 Years
Authors: Ryo Shigemoto, Takatoshi Anno, Fumiko Kawasaki, Kohei Kaku, Hideaki Kaneto
Journal: Front Immunol (2021)
Keywords: anti-gad antibody, anti-ia-2 antibody, autoimmune antibody, elderly onset, type 1 diabetes mellitus, β-cell function
MeSH terms: Diabetes Mellitus, Type 1 / immunology, Diabetes Mellitus, Type 1 / pathology, Disease Progression, Insulin-Secreting Cells / pathology, Case Reports, Aged, Autoantibodies / immunology, Autoantigens / immunology, Humans, Male, Autoantibodies, Autoantigens

Type 1 diabetes mellitus (T1DM) is mainly triggered by autoimmune β-cell destruction, usually leading to absolute insulin deficiency. Regarding the speed of β-cell destruction, there are large variations depending on age. In some adult cases, sufficient β-cell function is sometimes retained for a relatively long period and eventually they become dependent on insulin for survival. It is known that even in subjects with T1DM showing high titers of such antibodies, insulin secretory capacity is preserved under several conditions such as "honeymoon" period and slowly progressive T1DM (SPIDDM). Herein, we reported the acute onset T1DM subject with long-term preservation of β-cell function, although his anti-GAD antibody and anti-IA-2 antibody titers were very high for more than 4 years. This case is very important in that his β-cell function was preserved with dipeptidyl peptidase-4 inhibitor alone. This means that there are large variations in the speed of β-cell destruction in the onset of T1DM.
Accidental ingestion of endodontic file: a case report
Authors: Hrushikesh P Saraf, Pradnya P Nikhade, Manoj G Chandak
Journal: Case Rep Dent (2012)
MeSH terms: Case Reports

Ingestion of the endodontic instrument during root canal treatment is rare but can result in serious complications. The present paper reports a case in which endodontic file was accidentally swallowed by the patient undergoing root canal therapy, which entered digestive tract and passed uneventfully.
Extensive epithelioid hemangioendothelioma of the maxillary sinus: A case report
Authors: A Chaouki, A Mkhatri, A Ballage, N Zouhair, M Mahtar
Journal: Int J Surg Case Rep (2019)
Keywords: chemotherapy, epitheloid haemangioendothelioma, maxillary sinus, radiation therapy

Background:
Epitheliod hemandioendothelioma (EHE) is a rare vascular tumor which was first reported by Weiss and Enzinger in 1982. It can be seen in many locations whose paranasal sinus is extremly rare. Its main treatment is surgery. To our best knowledge, no report of EHE treated by radiation therapy and chemotherapy has been described.
Case summary:
A 18 years old man presented to our hospital with a 3 months history of right intermittent epistaxis, permnanent nasal obstruction and right hearing loss. The physical exam found a right exophtalmia, swelling deformatted right hemifacia and a bulky whitish tumor filling the right nasal cavity. The magnetic resonance imaging (MRI) showed an extensive hyperascularized nasopharyngeal process filling the right nasal cavity whose histopathological exam revealed an epitheloid hemangioendothelioma. Due to intracranial extension, surgery was contraindicated. The patient received 65 Gy of radiation therapy and chemotheray (cisplatin). After 18 months of follow up, the exopthalmous regressed and the MRI showed a 50% regression of the tumour size.
Conclusion:
Extensive EHE can be treated by radiation therapy and chemotherapy when surgery can't be perfomed.
Constrictive pericarditis in a patient with sinus venosus atrial septal defect and anomalous right upper pulmonary venous return
Authors: Santosh C Uppu, Sruti Chandrasekaran, Kiran K Mallula
Journal: Ann Pediatr Cardiol (2009)
Keywords: constrictive pericarditis, partial anomalous pulmonary venous return, sinus venosus atrial septal defect
MeSH terms: Case Reports

This is a report of a 49-year-old male, who presented with typical signs and symptoms of constrictive pericarditis. He was diagnosed with sinus venosus atrial septal defect (ASD) and anomalous right upper pulmonary venous return during his adolescence, which was elected not to be repaired. During the attempted repair of the ASD it was noted there was a thick fibrous material covering the heart, which had progressed over time leading to frank constrictive pericarditis. His ASD spontaneously closed over time. There have been less than 10 cases reported with constrictive pericarditis of nonsurgical etiology in a patient with ASD, and none with sinus venosus ASD.
Cancer patients with large defects. Reconstructional options: a case study
Authors: Theodoros Papadas, Panagiotis Goumas, Maria Miranda Alexopoulou, Ioannis Papakyriakos, Dimitrios Papavasiliou, Dimitrios Antonopoulos
Journal: Braz J Otorhinolaryngol (2005)
MeSH terms: Bone Plates, Carcinoma, Squamous Cell / surgery, Head and Neck Neoplasms / surgery, Neoplasm Recurrence, Local / surgery, Plastic Surgery Procedures / methods, Surgical Flaps / pathology, Case Reports, Aged, Carcinoma, Squamous Cell / pathology, Ear Neoplasms / pathology, Ear Neoplasms / surgery, Ear, External, Head and Neck Neoplasms / pathology, Humans, Male, Mastoid / surgery, Neck Dissection, Neoplasm Recurrence, Local / pathology, Treatment Outcome

We report a case of a seventy-five years old male patient with a squamous cell carcinoma (SCC) originated from the right external ear four years ago. He was undergone surgical removal of the lesion with a combination of modified neck dissection and reconstruction with the use of pectoralis major flap. Furthermore, he had radiotherapy with 6000 rads of the right temporal region. Two months ago the patient showed an extended recurrence concerning the temporal muscle and bone, the lithoid bone, the masseter and the pterygoid muscles, the right part of the mandible, the parotid gland with the facial nerve, and the superior bulb of the internal jugular vein. He had a surgical removal of the lesion in extended healthy margins and functional and esthetic reconstruction of the defect with a combination of metal fixed prosthesis of the condyle and the right mandible and the use of myocutaneous trapezius flap. This is a case report of the reconstruction options we have nowadays to provide quality of life in cancer patients.
Testicular Leydig Cell Tumor with Metachronous Lesions: Outcomes after Metastasis Resection and Cryoablation
Authors: Julio J Geminiani, Stephen D Marshall, Tammy S Ho, Steven B Brandes
Journal: Case Rep Urol (2015)

Leydig cell tumors represent 3% of testicular masses and usually occur in prepubertal boys and men between 30 and 60 years of age. Leydig cell tumors are benign in children but can be malignant in 10% of adults. This case report describes a 41-year-old patient who was diagnosed with a Leydig cell tumor that originated in his right testicle that subsequently metastasized to his liver, lungs, and retroperitoneum. We discuss the patient's presentation and review the radiographic findings, surgical treatment, surgical pathology, chemotherapeutic treatment, and published literature on this rare pathology.
Spontaneous Rhinorrhea mimicking sinusitis
Authors: Selcuk Ozdogan, Yusuf Emrah Gergin, Sinem Gergin, Necati Tatarli, Tufan Hicdonmez
Journal: Pan Afr Med J (2015)
Keywords: rhinorrhea, sinusitis, spontaneous rhinorrhea
MeSH terms: Cerebrospinal Fluid Rhinorrhea / diagnosis, Obesity, Morbid, Case Reports, Cerebrospinal Fluid Rhinorrhea / diagnostic imaging, Diagnosis, Differential, Female, Humans, Middle Aged, Tomography, X-Ray Computed

Spotaneous or non-traumatic cerebrospinal fluid rhinorrhea is an uncommon condition and may present a diagnostic challenge to clinicians. This condition is often being misdiagnosed for allergic rhintis or chronic sinusitis since the precipitating cause is not readily apperent in most patients. The mechanism of rhinorrhea is stil not completely clarified. We describe a case of this condition occuring in association with allergic rhinitis and sinusitis. A 52 year-old, obese female patient presented with two weeks history of bilateral clear nasal discharge and postural headache. Sample of nasal discharge tested for glucose and protein. The result was that the collection fluid was cerebrospinal fluid. The origin of cerebrospinal fluid fistula could not be identified despite the diagnostic tests.
Intestinal ischemia following laparoscopic surgery: a case series
Authors: Waleed Al-Khyatt, James D Thomas, David J Humes, Dileep N Lobo
Journal: J Med Case Rep (2013)

Introduction:
Intestinal ischemia is a rare complication of laparoscopic surgery. Its prognosis depends on a high index of suspicion and effective early treatment.
Case presentation:
In the present report, we describe three cases where intestinal ischemia developed following laparoscopic surgery. Case 1 concerns a 52-year-old Caucasian man who developed large bowel ischemia following laparoscopic adjustable gastric band surgery. Case 2 concerns an 82-year-old Caucasian woman who developed fatal intestinal ischemia following laparoscopic cholecystectomy. Case 3 concerns a 58-year old Caucasian woman who developed right-sided lower intestinal ischemia following open cholecystectomy.
Conclusions:
Intestinal ischemia is a rare complication of laparoscopic surgery. The identification of high-risk patients is an essential primary preventive measure. A high index of suspicion is required to make an early diagnosis, which may help improve outcomes.
Acute Portal Vein Thrombosis Treated with Recombinant Human Soluble Thrombomodulin Combined with Antithrombin III
Authors: Satoshi Nakayama, Naoya Murashima
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

Portal vein thrombosis is a major complication associated with liver cirrhosis. In cirrhotic patients, a decrease in procoagulant and anticoagulant factors and an unstable balance between them is observed, and a relative decrease in the activation of anticoagulant drivers is one of the main causes of portal vein thrombosis (PVT). Herein, we report a case of acute portal thrombosis associated with liver cirrhosis and treated with a recombinant form of soluble thrombomodulin (thrombomodulin alpha, TM-α) in combination with antithrombin III. TM-α was administered in accordance with the dosage and route of administration for disseminated intravascular coagulation therapy and resulted in dissolution of PVT with a gradual decrease in D-dimer levels. No adverse events were observed during the course of treatment. In the future, in addition to conventional anticoagulation therapy using heparin or antivitamin K drugs, novel therapies targeting protein C activation using a recombinant form of soluble thrombomodulin may play an important role in the treatment of acute PVT.
Etiology of Ascites and Pleural Effusion Associated with Ovarian Tumors: Literature Review and Case Reports of Three Ovarian Tumors Presenting with Massive Ascites, but without Peritoneal Dissemination
Authors: Ai Miyoshi, Takashi Miyatake, Takeya Hara, Asuka Tanaka, Naoko Komura, Shinnosuke Komiya, Serika Kanao, Masumi Takeda, Mayuko Mimura, Masaaki Nagamatsu, Takeshi Yokoi
Journal: Case Rep Obstet Gynecol (2015)

Borderline ovarian tumors are benign but relatively large tumors that are often initially mistaken as ovarian cancers. We report three cases of stage I borderline ovarian tumors having massive ascites that we (preoperatively) suspected of being advanced ovarian cancer. The three patients (35, 47, and 73 years old) reported feeling fullness of the abdomen before consulting their gynecologist. By CT scan, they were diagnosed with a pelvic tumor accompanied by massive ascites, the diameters of which were 11, 20, and 11 cm, respectively. Postsurgical pathology showed all were stage I borderline ovarian tumors without dissemination; two were mucinous and one was serous. The amount of ascites was 6,300, 2,600, and 3,600 mL, respectively, and was serous in all. Cytodiagnosis of the ascites found that one was positive for tumor cells and two were negative. After resection of the mass, the ascites disappeared in all three cases. No pleural effusion was present at any time. The literature is reviewed concerning ascites and pleural effusions linked to ovarian tumors, and a supposition is forwarded of why pleural effusion presents sporadically in these cases.
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions
Authors: Iselin Marie Wedding, Jeanette Koht, Gia Tuong Tran, Doriana Misceo, Kaja Kristine Selmer, Asbjørn Holmgren, Eirik Frengen, Laurence Bindoff, Chantal M E Tallaksen, Charalampos Tzoulis
Journal: PLoS One (2014)
MeSH terms: DNA, Mitochondrial, Sequence Deletion, Spastic Paraplegia, Hereditary / genetics, Case Reports, Research Support, Non-U.S. Gov't, ATPases Associated with Diverse Cellular Activities, Aged, Biopsy, Brain / pathology, Brain / physiopathology, Consanguinity, Electroencephalography, Electromyography, Female, Humans, Magnetic Resonance Imaging, Male, Metalloendopeptidases / genetics, Middle Aged, Mitochondria, Muscle / genetics, Muscle, Skeletal / pathology, Muscle, Skeletal / physiopathology, Pedigree, Spastic Paraplegia, Hereditary / diagnosis, DNA, Mitochondrial, Metalloendopeptidases, SPG7 protein, human, ATPases Associated with Diverse Cellular Activities

Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding paraplegin, a protein located at the inner mitochondrial membrane and involved in the processing of other mitochondrial proteins. The mechanism whereby paraplegin mutations cause disease is unknown. We studied two female and two male adult patients from two Norwegian families with a combination of progressive external ophthalmoplegia and spastic paraplegia. Sequencing of SPG7 revealed a novel missense mutation, c.2102A>C, p.H 701P, which was homozygous in one family and compound heterozygous in trans with a known pathogenic mutation c.1454_1462del in the other. Muscle was examined from an additional, unrelated adult female patient with a similar phenotype caused by a homozygous c.1047insC mutation in SPG7. Immunohistochemical studies in skeletal muscle showed mosaic deficiency predominantly affecting respiratory complex I, but also complexes III and IV. Molecular studies in single, microdissected fibres showed multiple mitochondrial DNA deletions segregating at high levels (38-97%) in respiratory deficient fibres. Our findings demonstrate for the first time that paraplegin mutations cause accumulation of mitochondrial DNA damage and multiple respiratory chain deficiencies. While paraplegin is not known to be directly associated with the mitochondrial nucleoid, it is known to process other mitochondrial proteins and it is possible therefore that paraplegin mutations lead to mitochondrial DNA deletions by impairing proteins involved in the homeostasis of the mitochondrial genome. These studies increase our understanding of the molecular pathogenesis of SPG7 mutations and suggest that SPG7 testing should be included in the diagnostic workup of autosomal recessive, progressive external ophthalmoplegia, especially if spasticity is present.
Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis
Authors: Joseph T Alaimo, Sureni V Mullegama, Mary Ann Thomas, Sarah H Elsea
Journal: Mol Cytogenet (2015)
Keywords: copy number variation, encode, ptls, rai1, sms, structural variation
MeSH terms: Case Reports

The identification of structural variants of uncertain clinical significance is increasing; however, studies delineating the functional consequence of these variants in the pathogenicity of phenotypic features are lacking. Understanding the consequence of structural variants such as copy number alterations and their role in gene expression changes is paramount in order to perform a comprehensive analysis of genetic effects on phenotypic variation and disease. RAI1 is a dosage-sensitive essential neurodevelopmental gene. Copy number loss of RAI1 results in Smith-Magenis syndrome while copy number gain results in Potocki-Lupski syndrome. Here, we present a case of a six year old female with a newly identified maternally inherited copy number loss that lies within the Smith-Magenis syndrome common deletion region, but RAI1 copy number is normal. Integration of the Encyclopedia of DNA Elements (ENCODE) data at the affected region suggests that the deletion disrupts several cis-acting regulatory elements upstream of RAI1, such as multiple repressor sites and an insulator region. Gene expression studies revealed that both the proband and the mother have significantly elevated RAI1 mRNA levels suggesting that the structural variant alters gene expression regulation. The proband and the mother both have some features of Potocki-Lupski syndrome, while the child appears to be more affected with autistic-like features. Overall, our work demonstrates that the integration of ENCODE data with structural variants of uncertain significance aids in delineating a functional consequence to a genomic aberration and subsequent diagnosis.
Management of Dysphagia Pre- and Postoperatively in a Case of Eagle's Syndrome
Authors: Vicki Lewis, Bari Hoffman Ruddy, Jeffrey Lehman, Erin Silverman, Brian Spector
Journal: Case Rep Otolaryngol (2015)

Eagle's syndrome (ES) is rare condition, most frequently described within the context of case study presentation. ES results from elongation of the styloid process, contributing to symptoms such as globus sensation in the throat, as well as pain localized to the ear, neck, face, or tongue. Additional symptoms can include hypersalivation, change in vocal quality, submandibular swelling, and dysphagia. This report discusses evaluation, diagnosis, and surgical intervention with respect to Eagle's Syndrome in a patient presenting with moderate-severe dysphagia.