OpenMed/multicare-articles huggingface dataset:
Primary intestinal type mucinous adenocarcinoma of the ovary diagnosed during pregnancy - Maternal and neonatal treatment and outcomes: A case report
Authors: Eliane Azeka Hase, Henrique Norio Shinohara, João Alberto Garcia Alves Filho, José Carlos Sadalla, Alexandre Muxfeldt Ab Saber, Rossana Pulcineli Vieira Francisco
Journal: Front Med (Lausanne) (2023)
Keywords: cancer, management, mucinous carcinoma, ovary, pregnancy
MeSH terms: Case Reports

The incidence of ovarian cancer during pregnancy is low. Most adnexal tumors removed during pregnancy are benign, with ovarian carcinomas found in approximately 1: 10,000-1: 50,000 pregnancies. Literature on this disease is scarce and consists mostly of retrospective studies and case reports. We report the case of a pregnant patient who presented with a primary intestinal-type mucinous adenocarcinoma of the ovary and underwent unilateral salpingo-oophorectomy, with no additional surgical or chemotherapy treatment after the histological diagnosis, despite an infiltrative stromal invasion pattern. To the best of our knowledge, no such case has been previously reported. Conservative treatment in this case of early ovarian carcinoma is possible during pregnancy and should be performed in the Department of Gynecological Oncology and Obstetrics of a tertiary referral hospital. Given the possibility of disease recurrence, such patients require strict clinical oncological surveillance, specialized prenatal care, and assistance from a multidisciplinary team to improve the maternal and perinatal outcomes.
Thyrotoxic Dysphagia in an 82-year-old male
Authors: Konstantinos Parperis, Ramona Dadu, Sheikh Hoq, Vivian Argento
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Dysphagia is a common problem in elderly patients and a rare manifestation of Graves' disease. We report a case of an 82-year-old male who presented with a 4-week history of dysphagia and weight loss. Workup for his dysphagia with upper endoscopy, MRI brain, electromyography, acetyl-cholinesterase receptor antibodies, and voltage-gated calcium channel antibodies were negative. Modified Barium swallow test showed oropharyngeal dysphagia. Thyroid function tests that revealed hyperthyroidism and antibodies to TSH-receptor were positive. Based on the above findings, we considered Graves' disease as the most likely diagnosis. Patient was treated with methimazole and beta-blockers and subsequently his dysphagia resolved. This paper highlights the importance to clinicians of considering thyrotoxicosis as possible diagnosis in an elderly patient presenting with unexplained dysphagia.
Pregnant patient with prune belly syndrome: case report
Authors: André Emídio Carvalho Moreno, Mariana Albuquerque Montenegro, Paula Andrade Neiva Santos, Dennyse Araújo Andrade, Laura Alencar Pinto, Manoel Cláudio Azevedo Patrocínio, Júlio Augusto Gurgel Alves
Journal: Einstein (Sao Paulo) (2022)
MeSH terms: Cryptorchidism, Prune Belly Syndrome / complications, Prune Belly Syndrome / diagnostic imaging, Case Reports, Abdominal Muscles, Adult, Cesarean Section, Female, Humans, Infant, Newborn, Male, Pregnancy, Ultrasonography

Prune belly syndrome is a rare congenital disease of unknown etiology that is present in one in every 40 thousand live births, and predominantly affects males, at a ratio of 4:1. In males, it presents with anomalies in the urinary system, absence of abdominal muscles, bilateral cryptorchidism, and infertility. In women, the syndrome has variable presentations, but fertility is preserved. Searching the medical literature, we found only one case of prune belly syndrome in pregnant women. Therefore, the patient in this report is the second case. She was primiparous, 25-years-old, with no abdominal muscles, severe congenital kyphoscoliosis, and pulmonary restriction. Elective cesarean section was performed at 37 weeks of gestation due to maternal risk of uterine rupture by transverse presentation and fetal risk of intrauterine growth restriction. The pre-anesthetic approach defined that general anesthesia might have more risks for the patient due to severe maternal lung disease compared to ultrasound-guided locoregional anesthesia. During prenatal care, there were some maternal complications, such as asthma exacerbations, abdominal pain, and constipation. The newborn was born small for gestational age and this can possibly be explained by maternal restrictive lung capacity. The newborn presented with Apgar score 8/9 and tachypnea, but improved after two hours of life.
Osimertinib: Another medication related to osteonecrosis of the jaws? A case report and literature review
Authors: Feng Wang, Shengnan Wei, Zexuan Zhang, Yuan Zhang, Jingya He, Bin Sun
Journal: Front Pharmacol (2022)
Keywords: egfr, vegf, medication-related osteonecrosis of the jaw (mronj), osimertinib (azd9291), side effect
MeSH terms: Case Reports

Introduction: Medication-related osteonecrosis of the jaw (MRONJ) is an oral complication in cancer patients being treated with either antiresorptives, mainly denosumab and bisphosphonates, or antiangiogenic drugs. Osimertinib is a third-generation epidermal growth factor receptor (EGFR)-tyrosine kinase inhibitor (TKI) for the treatment of patients with EGFR T790M advanced non-small-cell lung cancer (NSCLC). TKI-induced osteonecrosis of the jaw has been reported in recent years, but these cases almost occur in combination with bisphosphonates, and the data on MRONJ associated to osimertinib is scarce. Case report: We reported a case of MRONJ associated only with osimertinib. A 69-year-old female patient with NSCLC developed MRONJ after 4 years of treatment with osimertinib. Six months ago, she felt persistent pain and swelling in the right maxilla. After 3 months of pain, her dentist extracted one tooth in the right maxilla under local anesthesia. We examined her gingiva and found fistula and pus spillage. A digital volume tomography scan revealed sequestrum. The patient underwent surgical debridement of the necrotic bone under general anesthesia and administered intravenous antibiotics at the hospital. Histopathological analysis of the bone biopsy revealed a diagnosis of MRONJ. Conclusion: This report provides evidence that osimertinib monotherapy can cause MRNOJ, and has a contribution to explore the formation mechanism of MRONJ. For those patients who take osimertinib, routine oral examinations and monitoring should be performed before and during treatment, as well as prompt closure of wounds and antibiotic treatment to avoid infection after invasive oral surgery such as tooth extraction.
Esthetic Rehabilitation with Direct Composite Veneering: A Report of 2 Cases
Authors: Kyatham Sowmya, K S Dwijendra, V Pranitha, Konda Karthik Roy
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

Esthetic or cosmetic dentistry is one of the main areas of dental practice. Increasing demand of patients for esthetics has resulted in the development of several techniques for restoring the anterior teeth. Composite resin restorations have become an integral part of contemporary restorative dentistry and can be called "star of minimal invasion" due to its conservative concepts. The direct composite veneering allows restoring the tooth in a natural way and preservation of sound tooth structure when compared to indirect restorations. This article presents two case reports of esthetic rehabilitation of anterior teeth using direct composite veneering with two-year follow-up with acceptable outcome.
Eculizumab in the Treatment of Aquaporin-4 Seronegative Neuromyelitis Optica Spectrum Disorder: A Case Report
Authors: Lakshmi Digala, Nakul Katyal, Naureen Narula, Raghav Govindarajan
Journal: Front Neurol (2021)
Keywords: aquaporin-4, autoimmune disease, complement-inactivating agents, eculizumab, neuromyelitis optica spectrum disorder, relapses, seronegative
MeSH terms: Case Reports

Objective: To report the case of a 35-year-old woman with treatment-resistant aquaporin-4 (AQP-4) immunoglobulin G (IgG) seronegative neuromyelitis optica spectrum disorder (NMOSD) successfully treated with eculizumab (a terminal complement inhibitor). Methods: The investigational procedures and treatment regimens the patient received were documented over 8 years [2012 (first presentation) to 2020]. Results: The patient presented with subacute onset of lower-limb weakness and numbness, gait imbalance, and urinary incontinence. Magnetic resonance imaging (MRI) showed abnormalities in the thoracic spine from T7 to T10, but brain and cervical spine scans, visual evoked potential latencies, and IgG index were normal; cerebrospinal fluid pleocytosis and oligoclonal bands were both present. After treatment with intravenous methylprednisolone 1 g/day for 5 days, the patient was discharged without medication to acute rehabilitation but experienced relapses from 2012 to 2014. She was treated with oral prednisone (initiated at 40 mg/day in 2014; the dose was halved in 2015 due to weight gain) and mycophenolate mofetil (MMF) 1 g twice daily (from June 2015), but between 2014 and 2019 experienced 4-5 relapses/year, requiring treatment with intravenous methylprednisolone, with added maintenance plasma exchange from 2018 onwards. Although the patient tested negative for antibodies to AQP-4 and myelin oligodendrocyte glycoprotein, she was diagnosed with NMOSD in February 2017, based on recurrent episodes of longitudinal extensive transverse myelitis, MRI changes, and area postrema syndrome. By 2018 the patient needed a cane to walk. Prednisone and MMF were discontinued mid-2018, and rituximab was prescribed from July 2018 (maintenance regimen two 1 g doses 2 weeks apart every 6 months) but discontinued in July 2019 owing to lack of significant improvement. From July 2019 eculizumab was prescribed for 6 months (900 mg weekly for the first four doses, then 1200 mg every 2 weeks). The patient had no relapses or adverse events during and after eculizumab treatment (as of August 2020) and was able to walk unaided; her Expanded Disability Status Scale score improved from 4-5 during 2015-2018 to 2 in 2020 following eculizumab treatment. Conclusion: Eculizumab shows promise as a treatment for AQP-4 IgG-seronegative NMOSD and further studies are warranted.
Reconstruction of Photoreceptor Outer Layers after Steroid Therapy in Solar Retinopathy
Authors: Masaki Nakamura, Koji Komatsu, Satoshi Katagiri, Takaaki Hayashi, Tadashi Nakano
Journal: Case Rep Ophthalmol Med (2018)
MeSH terms: Case Reports

Purpose:
To report the clinical course of solar retinopathy after steroid therapy.
Case presentation:
A 45-year-old male gazed at the sun and noticed bilateral central scotoma and decreased vision after the episode. After 7 weeks from onset, ophthalmic examinations were firstly performed. Decimal best corrected visual acuity (BCVA) was decreased to 0.8 and 0.7 in the right and left eyes. Funduscopy showed a tiny, yellowish spot in the fovea bilaterally. Corresponding to the lesion, optical coherence tomography (OCT) images showed an elevated and blurred ellipsoid zone and loss of the interdigitation zone. A posterior sub-Tenon triamcinolone injection in the right eye and oral prednisolone therapy were performed as a medication. BCVA was improved to 1.2 and 1.0 in the right and left eyes at 9 weeks after medication. OCT images showed ellipsoid zone was gradually improved bilaterally, which became nearly normal at 4 weeks in the right eye and at 21 weeks in the left eye. The loss of the interdigitation zone remained at 12 weeks in the right eye and at 21 weeks at the left eye.
Conclusions:
We described a case with solar retinopathy who exhibited anatomical recovery of the photoreceptor outer layers by steroid therapy, started after 7 weeks from onset.
Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation
Authors: Frenny Sheth, Thomas Liehr, Krati Shah, Jayesh Sheth
Journal: Mol Cytogenet (2015)
Keywords: deletion, fish, prader-willi syndrome, structural rearrangement, unbalanced translocation, ssmc
MeSH terms: Case Reports

Background:
Prader-Willi syndrome, due to microdeletion of proximal 15q, is a well-known cause of syndromic obesity.
Case characteristics:
A couple with history of repeated first trimester abortions had a son with balanced Robertsonian translocation of chromosomes 13 and 15 according to cytogenetic banding technique.
Results:
Chromosomal analysis for the couple was performed. A balanced translocation involving BP1-BP3 region of proximal 15q was observed in the father.
Discussion:
Investigations of the parents is mandatory when a structural rearrangement is detected in a dysmorphic child.
Complex pediatric elbow injury: an uncommon case
Authors: H Sharma, R Ayer, G R Taylor
Journal: BMC Musculoskelet Disord (2005)
MeSH terms: Bone Wires, Elbow Injuries, Fracture Fixation, Internal / methods, Fractures, Bone / surgery, Joint Dislocations / therapy, Case Reports, Child, Elbow Joint / diagnostic imaging, Fractures, Bone / diagnostic imaging, Humans, Joint Dislocations / diagnostic imaging, Male, Radiography

Background:
There is paucity of literature describing complex elbow trauma in the pediatric population. We described a case of an uncommon pediatric elbow injury comprised of lateral condyle fracture associated with posterolateral dislocation of elbow.
Case presentation:
A 12-year-old boy sustained a direct elbow trauma and presented with Milch type II lateral condyle fracture associated with posterolateral dislocation of elbow. Elbow dislocation was managed by closed reduction. The elbow stability was assessed under general anaesthesia, followed by open K-wiring for the lateral condylar fracture fixation. The patient had an uneventful recovery with an excellent outcome at 39 months follow-up.
Conclusion:
Complex pediatric elbow injuries are quite unusual to encounter, the management of such fractures can be technically demanding. Concomitant elbow dislocation should be managed by closed reduction followed by open reduction and internal fixation (K-wires or cannulated screws) of the lateral condyle fracture.
A Rare Case of Bilateral Achilles Tendon Xanthomas in a Teenager, Successfully Treated with Tendon Sparing Technique
Authors: G A P K Appuhamy, B M Munasinghe, L M Soysa, D Nelson, P G P Ranmini, W T Pavithra, W M Sajini, C D N Anthony
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

Background:
Xanthoma of the Achilles tendon, even though being benign, is a surgically challenging orthopaedic condition. Causality is believed to be due to a pathological error in the metabolism of low-density lipoprotein and their resultant accumulation, as foam cells within the tendon. Tendon xanthomas are often found to accompany heterozygous familial hypercholesterolemia. Case Presentation. A 19-year-old girl presented to our institution (a District General Hospital), with soft tissue lumps over posterior aspect of the ankle on both sides for several years. She had noticed a rapid increase in size in recent 3 months and sought medical advice. During investigation, she was diagnosed having bilateral Achilles tendon xanthomas clinically, confirmed by ultrasound scan and magnetic resonance imaging, and familial hypercholesterolemia concomitantly. The former was managed with intralesion subtotal resection where the histology further confirmed the diagnosis. The patient was commenced on statins and followed up while assessing the functional outcome and recurrences up to 2 years, with favourable results.
Conclusion:
Subtotal resection of Achilles tendon xanthoma (tendon sparingly) offers cosmetically and functionally acceptable outcomes, with faster recovery and no recurrences over 2 years.
Case report and analysis: Behçet's disease with lower extremity vein thrombosis and pseudoaneurysm
Authors: Han-Lu Wang, Jian-Hui Zhang, Yi-Cheng Wu, Jia-Li Lin, Yi Tang, Li-Sheng Liao, Jie-Wei Luo, Qing-Hua Yu, Zhu-Ting Fang
Journal: Front Immunol (2022)
Keywords: aneurysm, behçet’s disease, deep vein thrombosis, diagnosis and treatment, vascular involvement
MeSH terms: Aneurysm, False / diagnostic imaging, Aneurysm, False / etiology, Aneurysm, False / therapy, Behcet Syndrome / complications, Behcet Syndrome / diagnosis, Behcet Syndrome / therapy, Venous Thrombosis / etiology, Venous Thrombosis / therapy, Case Reports, Research Support, Non-U.S. Gov't, Adult, Anticoagulants, Humans, Lower Extremity, Male, Pain, Anticoagulants

Background:
Behçet's disease (BD) is a unique autoimmune chronic systemic vasculitis that affects veins and arteries of all sizes. BD can lead to recurrent vascular events, especially venous thrombosis, with an incidence rate of 40%, or pseudoaneurysms formed under long-term inflammatory reaction or iatrogenic stimulation. BD-related risk factors promote endothelial dysfunction, platelet activation and overactivation of tissue factors leading to mural inflammatory thrombi. Thrombosis may be the first clinical manifestation of BD.
Case presentation:
A 32-year-old man complaining of progressive swelling and pain in the right lower extremity for 30 days was initially diagnosed with "venous thrombosis of the right lower extremity," using color Doppler ultrasonography. Patient underwent inferior vena cava filter placement combined with deep vein angioplasty of the right lower extremity and catheter-directed urokinase thrombolysis. Postoperative oral anticoagulant therapy was administered. However, the patient was readmitted 20 days later for pulsatile pain in the right groin. Prior medical history included 4 years of repeated oral and perineal ulcers, and 2 months of blurred vision. Abdominal computed tomography angiography (CTA) revealed rupture of the right common iliac artery (CIA) and left internal iliac artery (IIA), complicated by a pseudoaneurysm. Based on the clinical manifestations and other auxiliary examination results, the patient was re-diagnosed with "BD combined with deep venous thrombosis of the right lower extremity and an iliac artery pseudoaneurysm." Stent implantation was performed for iliac artery pseudoaneurysm after symptoms were controlled with timely immunosuppressive therapy. After endovascular treatment, the patient underwent continued immunosuppressive therapy and dynamic reexaminations of abdominal CTA, which revealed that a small amount of contrast agent at the stent in the right CIA continued to flow into the cavity of the pseudoaneurysm; in addition, the size of the pseudoaneurysm was gradually increasing. Therefore, the patient underwent a second stent implantation for iliac artery pseudoaneurysm, and the condition improved further.
Conclusion:
The importance of early diagnosis of BD should be recognized, and the choice of interventional and surgical procedures should be carefully evaluated, as this may trigger further damage to vascular access in BD patients with aneurysm.
Mycobacterium intracellulare Infection Mimicking Progression of Scleroderma
Authors: Simon Krabbe, Merete Engelhart, Sören Thybo, Søren Jacobsen
Journal: Case Rep Rheumatol (2017)
MeSH terms: Case Reports

This case report describes a patient with scleroderma who developed Mycobacterium intracellulare infection, which for more than a year mimicked worsening of her connective tissue disorder. The patient was diagnosed with scleroderma based on puffy fingers that developed into sclerodactyly, abnormal nail fold capillaries, interstitial lung disease, Raynaud's phenomenon, esophageal dysmotility, and positivity for rheumatoid factor and anti-SSA antibodies. She developed massive inflammatory changes of the cutis, the subcutis, and the muscle fasciae of the right leg, that after several failed attempts of immunosuppressive treatments were found to be caused by Mycobacterium intracellulare. While she was receiving high-dose prednisolone, as worsening of her connective tissue disease was suspected to be the cause of the inflammatory changes, she had Listeria monocytogenes meningitis and was hospitalized for several weeks, but she recovered from this without sequelae. After Mycobacterium intracellulare infection was diagnosed, she was treated with clarithromycin and rifampicin. Her skin manifestations, arthralgias, and fatigue improved considerably, and the wounds of the right leg healed, unfortunately with significant scarring. Immunodeficiency testing was unremarkable. In summary, an infection with Mycobacterium intracellulare was mistaken for an unusually severe progression of scleroderma.
Ovarian Cancer Was Discovered in Sister Mary Joseph's Nodule
Authors: Mouna Kouira, Imen Bannour, Mohammed Raouf Ben Abdesslem, Nihed Abdessayed, Badra Bannour
Journal: Case Rep Med (2022)
MeSH terms: Case Reports

Introduction:
Sister Mary Joseph's nodule (SMJN) is a rare illness characterized by an umbilical mass caused by tumor metastases in the abdomen or pelvis. The most common main site of SMJN in women is ovarian cancer. Case Presentation. A 73-year-old woman with no pathological history came to our emergency room with a one-month history of umbilicus enlargement. A 9-centimeter uncomfortable umbilical swelling with hard consistency was discovered during a clinical examination. An ovarian tumor with several local expansions was seen on an abdominal CT scan. It was linked to peritoneal metastases, one of which extends via a supraumbilical hernial orifice and into intestinal tissues in the same hernia sac. The umbilical tumor was removed from the patient. A moderately differentiated serous carcinoma with ovarian origin was identified in a periumbilical site on histological testing.
Conclusion:
The presence of an SMJN is a rare but significant issue that clinicians must examine because it is associated with a bad prognosis. Early detection and diagnosis of the original lesion can lead to more effective treatment and a higher rate of survival.
Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)
Authors: Gordon A Francis, Gang Li, Robin Casey, Jian Wang, Henian Cao, Todd Leff, Robert A Hegele
Journal: BMC Med Genet (2006)
MeSH terms: Diabetes Mellitus, Lipoatrophic / genetics, PPAR gamma / deficiency, Case Reports, Research Support, Non-U.S. Gov't, Canada, Cloning, Molecular, Codon, Nonsense, DNA Mutational Analysis, Diabetes Mellitus, Lipoatrophic / etiology, Family Health, Female, Heterozygote, Humans, Middle Aged, Pedigree, Transcription, Genetic, Codon, Nonsense, PPAR gamma

Background:
Familial partial lipodystrophy (Dunnigan) type 3 (FPLD3, Mendelian Inheritance in Man [MIM] 604367) results from heterozygous mutations in PPARG encoding peroxisomal proliferator-activated receptor-gamma. Both dominant-negative and haploinsufficiency mechanisms have been suggested for this condition.
Methods:
We present a Canadian FPLD3 kindred with an affected mother who had loss of fat on arms and legs, but no increase in facial, neck, suprascapular or abdominal fat. She had profound insulin resistance, diabetes, severe hypertriglyceridemia and relapsing pancreatitis, while her pre-pubescent daughter had normal fat distribution but elevated plasma triglycerides and C-peptide and depressed high-density lipoprotein cholesterol.
Results:
The mother and daughter were each heterozygous for PPARG nonsense mutation Y355X, whose protein product in vitro was transcriptionally inactive with no dominant-negative activity against the wild-type receptor. In addition the mutant protein appeared to be markedly unstable.
Conclusion:
Taken together with previous studies of human PPARG mutations, these findings suggest that PPAR-gamma deficiency due either to haploinsufficiency or to substantial activity loss due to dominant negative interference of the normal allele product's function can each contribute to the FPLD3 phenotype.