OpenMed/multicare-articles huggingface dataset:
Systemic Capillary Leak Syndrome as an Initial Presentation of ALK-Negative Anaplastic Large Cell Lymphoma
Authors: Laura S Lourdes, Samer Z Al-Quran, Nam H Dang, Merry-Jennifer Markham
Journal: Case Rep Hematol (2012)
MeSH terms: Case Reports

Systemic capillary leak syndrome (SCLS) is a rare disease characterized by third spacing of plasma into the extravascular compartment, leading to anasarca, hemoconcentration, and hypovolemic shock. It has been rarely associated with lymphomas, and reports usually indicate that it occurs after antineoplastic treatment. We present the case of a patient with ALK-negative anaplastic large cell lymphoma who presented with SCLS as the initial manifestation of her lymphoma. The SCLS resolved with treatment of the malignancy with steroids and chemotherapy.
Functional outcomes in bilateral upper limb Amelia patient with scoliosis post vertical expandable prosthetic titanium rib (VEPTR) application: A case report
Authors: Abdullah AlMarshad, Ibrahim AlMazrua, Rakan Al-Haidey, Zayed AlZayed
Journal: Int J Surg Case Rep (2020)
Keywords: amelia, congenital, phocomelia, rare, scoliosis
MeSH terms: Case Reports

Introduction:
Congenital upper limb Amelia is one of the extremely rare conditions in the world. Defined as complete absence of a limb which may present as isolated defect or as a part of syndrome with associated anomalies.
Presentation of the case:
We report a case of a medically free 6-year-old boy with bilateral upper limb Amelia associated with right thoracolumbar idiopathic Scoliosis.
Discussion:
Treatment for early onset scoliosis includes either posterior spinal fusion and instrumentation, or Vertical Expandable Prosthetic Titanium Rib (VEPTR). The choice of care for our patient was decided to be VEPTR alone as definitive management. Up to our knowledge, there are very scanty articles published regarding treatment for such cases.
Conclusion:
Patient underwent vertical expandable prosthetic titanium rib (VEPTR) application for his large 45-degree curve as a definitive treatment and still have his preoperative physical functions, in terms of using lower limbs in daily living activities.
Near-infrared fundus autoflorescence imaging in solar retinopathy
Authors: Maciej Czepita, Anna Machalińska, Damian Czepita
Journal: GMS Ophthalmol Cases (2017)
Keywords: fundus autofluorescence, near-infrared fundus autofluorescence, solar retinopathy
MeSH terms: Case Reports

Solar retinopathy is a rare clinical entity caused by photochemical damage to the retinal pigment epithelium layer and photoreceptors of the fovea. Here we describe a case of a 33-year-old female patient diagnosed by near-infrared fundus autofluorescence imaging for signs of damage to the melanosomes of the retinal pigment epithelium of the fovea. The patient was advised to discontinue looking at the sun with the naked eye.
Selective Emotional Dysregulation in Splenium Agenesis. A Case Report of a Patient With Normal Cognitive Profile
Authors: Sara Palermo, Agata Andò, Adriana Salatino, Stefano Sirgiovanni, Luana De Faveri, Antonella Carassa, Maria C Valentini, Rosalba Morese
Journal: Front Psychol (2019)
Keywords: mri, emotional dysregulation, neuropsychological tests, social development, splenium of the corpus callosum

Objective: Patients with lesions of the corpus callosum are rare and may present different symptoms of the disconnection syndrome. However, to-date studies on callosotomized patients have not been conclusive, likely because of the non-uniform nature of clinical features, the extent of resection, and methods used to investigate specific and related deficits. Agenesis of the corpus callosum (AgCC) may be asymptomatic and discovered incidentally or associated with very slight deficits diagnosed during neurological examinations. In this study, we reported a case of an apparently completely asymptomatic 23-year-old woman with appreciable agenesis of the splenium of the corpus callosum. Methods: She underwent a neurological evaluation, a comprehensive battery of neuropsychological tests to identify any subclinical dysfunction that may affect the functionality of the subject in the daily life. Specifically, the possible presence of emotion dysregulation was examined by using a self-report questionnaire. Results: She showed normal neuropsychological and emotional functioning, performing efficiently on tests measuring acquired brain impairment. Discussion: The present case is discussed in terms of neuroplasticity - with a focus on putative compensatory mechanisms - emphasizing the variegated clinical feature patterns of brain defects present from birth.
Report of a patient and further clinical and molecular characterization of interstitial 4p16.3 microduplication
Authors: Orazio Palumbo, Pietro Palumbo, Emanuela Ferri, Francesco Nicola Riviello, Lea Cloroformio, Massimo Carella, Marilena Carmela Di Giacomo
Journal: Mol Cytogenet (2015)
Keywords: 4p163 duplication, genotype-phenotype correlation, snp array analysis
MeSH terms: Case Reports

Background:
Pure interstitial duplications of chromosome band 4p16.3 represent an infrequent chromosomal finding with, to the best of our knowledge, only two patients to date reported.
Case presentation:
We report on a 13-year-old boy showing a set of dysmorphic facial features, attention deficit hyperactivity disorders, learning difficulties, speech and cognitive delays, overgrowth and musculoskeletal anomalies in whom an interstitial duplication of about 400 kb in 4p16.3 was detected by SNP-array analysis. The duplication includes the complete coding sequence of FAM53A, SLBP, TMEM129 and TACC3 genes and the first exon of the FGFR3 gene. Phenotypic comparison with previously described patients harboring a microduplication of similar size and position contributes to better define the clinical correlation of 4p16.3 microduplications, suggesting the existence of a novel distinct and phenotypically recognizable syndrome. In addition, being the duplication identified in our case the smallest so far reported, it allowed us to refine the smallest region of overlap among patients to 222 kb, enabling a more accurate genotype-phenotype correlation for 4p16.3 microduplications.
Conclusions:
Our case report provide clinical and molecular evidences supporting the existence of a novel 4p16.3 microduplication syndrome. The genes FAM53A, TACC3 and FGFR3 seems to play a key role in the etiology of the clinical phenotype. Interestingly, our patient is the oldest described so far and for this reason useful to delineate the long-term prognosis of these patients.
Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants
Authors: Maria Delio, Kunjan Patel, Alex Maslov, Robert W Marion, Thomas V McDonald, Evan M Cadoff, Aaron Golden, John M Greally, Jan Vijg, Bernice Morrow, Cristina Montagna
Journal: PLoS One (2015)
MeSH terms: Genetic Diseases, Inborn / genetics, Genome-Wide Association Study, High-Throughput Nucleotide Sequencing, Mutation, Polymorphism, Single Nucleotide, Case Reports, Research Support, Non-U.S. Gov't, Adult, Female, Humans, Male

Background:
While next generation sequencing (NGS) is a useful tool for the identification of genetic variants to aid diagnosis and support therapy decision, high sequencing costs have limited its application within routine clinical care, especially in economically depressed areas. To investigate the utility of a multi-disease NGS based genetic test, we designed a custom sequencing assay targeting over thirty disease-associated areas including cardiac disorders, intellectual disabilities, hearing loss, collagenopathies, muscular dystrophy, Ashkenazi Jewish genetic disorders, and complex Mendelian disorders. We focused on these specific areas based on the interest of our collaborative clinical team, suggesting these diseases being the ones in need for the development of a sequencing-screening assay.
Results:
We targeted all coding, untranslated regions (UTR) and flanking intronic regions of 650 known disease-associated genes using the Roche-NimbleGen EZ SeqCapV3 capture system and sequenced on the Illumina HiSeq 2500 Rapid Run platform. Eight controls with known variants and one HapMap sample were first sequenced to assess the performance of the panel. Subsequently, as a proof of principle and to explore the possible utility of our test, we analyzed test disease subjects (n = 16). Eight had known Mendelian disorders and eight had complex pediatric diseases. In addition to assess whether copy number variation may be of utility as a companion assay relative to these specific disease areas, we used the Affymetrix Genome-Wide SNP Array 6.0 to analyze the same samples.
Conclusion:
We identified potentially disease-associated variants: 22 missense, 4 nonsense, 1 frameshift, and 1 splice variants (16 previously identified, 12 novel among dbSNP and 15 novel among NHLBI Exome Variant Server). We found multi-disease targeted high-throughput sequencing to be a cost efficient approach in detecting disease-associated variants to aid diagnosis.
Abdominal Ectopic Pregnancy and Impaired Postnatal Mammary Gland Development, Consistent With Physiologic Agalactia, in a Wild European Rabbit, Oryctolagus cuniculus
Authors: Katherine Hughes
Journal: Front Vet Sci (2019)
Keywords: oryctolagus cuniculus, abdominal pregnancy, ectopic pregnancy, extrauterine pregnancy, lithopedion, mammary gland, pregnancy, rabbit
MeSH terms: Case Reports

A wild European rabbit, Oryctolagus cuniculus, was diagnosed with an abdominal pregnancy due to the presence of a single abdominal lithopedion attached by a thin fibrovascular stalk to the left uterine horn, which was distorted by the tension of the adhesion. Evidence of mineralized remnants, chronic inflammation, and fibrosis in the left uterine endometrium and myometrium suggested that the lithopedion had arisen as a secondary abdominal pregnancy. The right uterine horn contained two macroscopically normal fetuses. The mammary gland exhibited notably retarded development in relation to the size of the fetuses. Histologically, mammary alveoli lacked evidence of intraluminal secretory product, and ducts lacked prominence and contained clusters of small numbers of macrophages. The doe also exhibited mild granulomatous and heterophilic pneumonia with rare intralesional adiaspores, suggesting infection with Emmonsia spp. as an incidental finding. This case documents secondary abdominal pregnancy in a wild lagomorph not subjected to artificial insemination procedures suggested to increase the occurrence of this condition in farmed rabbits. An abdominal pregnancy is one of a number of factors that should be considered as a potential factor in the etiology of impaired postnatal mammary development or reduced milk yield in a breeding doe, although no causative association is demonstrated in this case. Abdominal ectopic pregnancy is one possible differential diagnosis in the investigation of the presence of a palpable abdominal mass or masses in O. cuniculus.
The Incidental Use of High-Dose Vitamin D3 in Pancreatic Cancer
Authors: Timothy L Cannon, Joel Ford, Danubia Hester, Donald L Trump
Journal: Case Rep Pancreat Cancer (2016)
Keywords: carcinoma, pancreatic cancer
MeSH terms: Case Reports

Background: Pancreatic adenocarcinoma is associated with a very poor prognosis, with a 5 year survival of ∼7.2%. Vitamin D has long been evaluated for benefit as a protective agent and treatment for malignancies. Although cancer incidence and outcomes have been tied to vitamin D levels, there is no clear evidence that supplementation of vitamin D improves outcome in pancreatic cancer to date. Case Presentation: We present a patient who errantly took supratherapeutic doses of vitamin D 50,000 U daily, achieving a serum 25(OH)D level of more than 150 mg/mL, with no appreciable side effects. Conclusion: Her disease was stable for 8 months off of conventional treatment, although it is unclear whether this was related to vitamin D supplementation.
Metastatic Carcinoma of the Breast Presenting as Gingival Swelling in the Maxilla: A Case Report
Authors: Arun Sadasivan, K Rakul Nambiar, Deepu George Mathew, Elizabeth Koshi, Roshni Ramesh, Ashna Mariya Benny
Journal: Case Rep Dent (2022)
MeSH terms: Case Reports

Background:
Metastatic cancers in the oral cavity are usually very rare and are usually an indication of widespread malignancy. In some cases, oral metastasis was found to be the first presentation of distant site tumours. Even though oral metastatic lesions may be found anywhere in the oral cavity, they commonly present in the posterior areas of the jaw bones. Among the soft tissues, the gingiva is the most common site. The presence of inflammation in the gingiva and the role of periodontal microbiota are suggested to play a role in the attraction of metastatic cells. The purpose of this case report is to present a rare case of metastatic breast carcinoma presenting as a gingival enlargement in the maxillary anterior region. Case Presentation. A 37-year-old female patient who underwent modified radical mastectomy for invasive ductal breast carcinoma reported to the dental clinic with a gingival enlargement in the anterior maxillary region. Clinical and radiographic examination showed a rapidly enlarging gingival lesion with destruction of the underlying bone. A wide excision of the entire lesion was done. Histopathological and immunohistochemical (IHC) evaluations were suggestive of infiltrating poorly differentiated adenocarcinoma.
Conclusion:
This case report presents a metastatic oral lesion in the maxillary anterior region of the primary breast cancer site. The young age of patient and an uncommon site of metastatic lesion are the striking features of this case. We would like to highlight the importance of a thorough clinical, radiological, and histological evaluation of any gingival swelling as it could be a metastatic lesion. IHC staining helps in the diagnosis of the primary site of metastatic carcinomas. An early diagnosis and intervention could reduce the morbidity of the lesion and improve the survival rate.
Diagonistic Apraxia: A Unique Case of Corpus Callosal Disconnection Syndrome and Neuromyelitis Optica Spectrum Disorder
Authors: Hidenobu Shozawa, Akinori Futamura, Yu Saito, Motoyasu Honma, Mitsuru Kawamura, Michael W Miller, Kenjiro Ono
Journal: Front Neurol (2018)
Keywords: anti-aquaporin-4 antibody, corpus callosum disconnection syndrome, corpus callosum fibers, diagonistic apraxia, neuromyelitis optica spectrum disorder
MeSH terms: Case Reports

Diagonistic apraxia is a corpus callosal disconnection syndrome. Callosal lesions in Neuromyelitis optica spectrum disorder (NMOSD) have been reported, but callosal disconnection syndrome are rare. A 48-year-old woman was treated for fever and a cough before hospitalization. Her fever abated immediately, but she had balance problems in walking and standing. She also had slurred speech. On neurological examination, she had diagonistic apraxia. Her left hand moved in an uncoordinated way when she moved her right hand: changing her clothes for example or using a knife and fork. She had to instruct her left hand to stop. She had dysarthria and her gait was wide-based. She also had many callosal disconnection syndrome symptoms such as alexia of left visual field, left ear extinction, crossed optic ataxia. Using FLAIR and DWI MRI, a mixture of low and high signals, a so-called "marbled pattern," was seen in the corpus callosum. Since the patient was positive for anti-aquaporin-4 antibody, she was diagnosed with NMOSD. After two courses of steroid pulse therapy, the symptoms improved. Here we report diagonistic apraxia and other symptoms of callosal disconnection syndrome in anti-AQP4-positive NMOSD.
Gallbladder volvulus: A case report and review of the literature
Authors: Waad Farhat, Mohamed Ben Mabrouk, Houssem Ammar, Abdkader Mizouni, Mohamed Amine Said, Sami Lagha, Yesser Ben Cheikh, Rahul Gupta, Makram Moussa, Ali Ben Ali
Journal: Int J Surg Case Rep (2019)
Keywords: acute cholecystitis, cholecystectomy, gallbladder volvulus

Introduction:
Gallbladder volvulus (GV) is a rare disease with less than 400 cases reported in the English literature. The pre-operative diagnosis of GV is difficult as none of the imaging modalities are accurate. Once diagnosed, the mainstay of treatment is emergency surgical derotation and cholecystectomy.
Presentation of case:
A 83-old lady presented with right upper quadrant pain and fever for 3 days. Abdominal imaging revealed the presence of a distended, floating gallbladder located outside its normal fossa with thickened non-enhancing wall and a twisted pedicle suggestive GV. The patient underwent emergency laparotomy because the laparoscopic approach was refused by the anesthetist due to the history of pulmonary emphysema. Intraoperatively, the gallbladder was found be gangrenous and rotated in anti-clockwise direction around the cystic pedicle. The gallbladder was de-rotated followed by cholecystectomy.
Discussion:
GV is an uncommon cause for abdominal pain and occurs due to rotation of gall bladder on its mesentery along the axis of the cystic duct and the cystic artery. Pre-operative diagnosis continues to be a major challenge with only 4 cases reported in the literature diagnosed with pre-operative imaging. This case is one of the rare cases diagnosed with pre-operative imaging. It is often misdiagnosed as acute cholecystitis before surgery. However, critical constellation of presenting signs and symptoms along with radiological findings may guide the surgeon to accurate and timely diagnosis of GV before surgical intervention.
Conclusion:
Although rare, it is important to consider GV as a differential diagnosis in an elderly patient with acute cholecystitis.
Intradural Extramedullary Concurrent Schwannoma and Meningothelial Hyperplasia at C2-C3 Cervical Vertebrae: A Case Report and Review of Literature
Authors: Rayan Rammal, Daniel F Marker, Rana Naous
Journal: Case Rep Pathol (2022)
MeSH terms: Case Reports

Concomitant schwannomas and benign meningothelial proliferations, including meningothelial hyperplasia or meningioma, rarely occur at the same location outside the setting of neurofibromatosis. Herein, we present a rare case of concurrent schwannoma and benign meningothelial hyperplasia concomitantly occurring in the cervical spine of a 69-year-old male patient with no history of any genetic disorder.
Successful Prevention of Fetal Autoimmune-Mediated Heart Block by Combined Therapies With Hydroxychloroquine and Intravenous Immunoglobulin: A Case Report
Authors: Li Zhao, Yan Zhou, Chuan Wang, Yifei Li, Qi Zhu, Yimin Hua, Lina Qiao, Jinlin Wu, Kaiyu Zhou
Journal: Front Cardiovasc Med (2021)
Keywords: atrioventricular block, autoantibody, fetal heart, intravenous immunoglobulin, prophylactic therapy
MeSH terms: Case Reports

A fetal autoimmune-mediated atrioventricular block is a passively acquired autoimmune disease in which maternal autoantibodies enter the fetal circulation via the placenta and subsequently cause inflammation and fibrosis of the atrioventricular node. Once fetal autoimmune-mediated atrioventricular block occurs, it only takes a short time to progress from first-degree atrioventricular block to complete atrioventricular block, meaning that the damage is often irreversible. Autoimmune-associated AVB, a rare but life-threatening disorder, occurs in 2-5% of pregnancies with positive anti-Ro/SSA (the most common one) and La/SSB antibodies. The perinatal mortality of neonates with AVB outlined in research is approximately 30%. Thus far, for autoimmune-associated AVB fetuses, currently used treatments include corticosteroids, hydroxychloroquine, intravenous immunoglobulin (IVIG), b-sympathomimetic agent, and even plasma exchange. Currently, approaches for preventing the progression and recurrence of a fetal atrioventricular block are still controversial. Here, we reported a baby of successful prevention from the fate of the fetal atrioventricular block by adopting prophylactic comprehensive prenatal therapy.
Synchronous occurrence of gastrointestinal stromal tumor and intrahepatic cholangiocarcinoma: A case report
Authors: Seung-Joo Nam, Hyuk Soon Choi, Eun Sun Kim, Bora Keum, Yoon Tae Jeen, Hoon Jai Chun
Journal: Oncol Lett (2015)
Keywords: cholangiocarcinoma, gastrointestinal stromal tumor, multiple primary tumors

Various cases of gastrointestinal stromal tumor (GIST) coinciding with other gastrointestinal malignancies have been reported to date, however, the synchronous occurrence of GIST and intrahepatic cholangiocarcinoma (ICC) is exceptionally rare and, to the best of our knowledge, has only been reported once. The coinciding malignancy has usually been encountered incidentally during surgical exploration. Thus, this is the first report where a targeted biopsy of the clinically suspicious lesion was used to determine the diagnosis of ICC concurrent with GIST. The liver is the most frequent metastatic site of GIST, therefore, additional hepatic masses may be mistakenly diagnosed as metastatic disease, rather than the presentation of multiple primary tumors. This subsequently delays the accurate diagnosis and complicates the performance of a curable resection. The current study reports a case of advanced synchronous GIST and ICC, which was operable at initial presentation, but progressed to become surgically unresectable.
Olaparib Combined With Dacomitinib in Osimertinib-Resistant Brain and Leptomeningeal Metastases From Non-Small Cell Lung Cancer: A Case Report and Systematic Review
Authors: Hui Zhang, Yong Wang, Huaguo Wu, Shizhen Zhou, Shuo Li, Xiangji Meng, Rongjie Tao, Jinming Yu
Journal: Front Oncol (2022)
Keywords: brain and leptomeningeal metastases, dacomitinib, non-small cell lung cancer, olaparib, osimertinib-resistant
MeSH terms: Case Reports

Lung cancer patients with brain and leptomeningeal metastases usually have poor prognosis. For those patients with EGFR mutations, osimertinib, a third-generation tyrosine kinase inhibitor (TKI), is the first choice of treatment. However, drug resistance to osimertinib frequently occurs; and to date, the available follow-up treatment strategies have limited efficacy. In this case study, we report that treatments with olaparib, a Poly (ADP-ribose) polymerase (PARP) inhibitor, combined with dacomitinib, a second-generation EGFR TKI, benefited a lung cancer patient with osimertinib-resistant brain and leptomeningeal metastases. This 55-year-old male patient was found to have a pL858R mutation on EGFR exon 21 combined with TP53 and ERBB2 mutations after developing drug resistance to osimertinib treatment. Based on the genetic testing results, he was treated with olaparib and dacomitinib, and obtained 6 months of progression-free survival (PFS) and 13 months of overall survival (OS) after the diagnosis of leptomeningeal metastasis. This case report represents the first study applying PARP inhibitor in combination with dacomitinib in the treatment of leptomeningeal metastases after osimertinib resistance.
Hashimoto's Encephalopathy Mimicking Viral Encephalitis: A Case Report
Authors: Miaomiao Yu, Yu Yang, Xianyi Ma, Yinyin Xie, Ningning Sun, Hongmei Meng
Journal: Front Neurosci (2020)
Keywords: hashimoto’s encephalopathy, anti-thyroid antibodies, differential diagnosis, therapy, viral encephalitis

Hashimoto's encephalopathy (HE) is a rare neuropsychiatric syndrome characterized by elevated levels of anti-thyroid antibodies. Diverse manifestations make timely diagnosis of HE difficult. Herein, we report a case of HE, in which the clinical symptoms and laboratory test results mimicked viral encephalitis. A 59-year-old male patient, who presented with a fever, headache, slow and unclear speech, sentence confusion, elevated levels of anti-thyroid antibodies in the serum, an increased white blood cell count, and positivity for anti-thyroid antibodies in the CSF, was finally diagnosed with HE and responded well to a small dose of methylprednisolone. This report helps bring the attention of clinicians to the fact that HE should be considered when cases of unexplained encephalopathy are encountered.