OpenMed/multicare-articles huggingface dataset:
Primary neuroendocrine breast cancer-an unusual occurrence
Authors: Anjana Vinod, Ishika Mahajan, Aruni Ghose, Saraswathy Sreeram
Journal: Ecancermedicalscience (2023)
Keywords: nebc, breast cancer, case report, chromogranin, neuroendocrine, primary, synaptophysin
MeSH terms: Case Reports

Primary breast neuroendocrine neoplasms (BNENs) are a rare form of breast cancer, accounting for less than 0.1% of all breast malignancies. These neoplasms have a similar clinical presentation as conventional breast carcinomas, differing mainly in their histopathology and expression of neuroendocrine (NE) markers, chromogranin and synaptophysin. Owing to their rarity, current knowledge of these tumours comes mainly from corroborative case reports or retrospective case series. There is hence a lack of randomised data on the treatment of these entities and current protocol suggests similar treatment as that of conventional breast carcinomas. We report the case of a 48-year-old with a breast mass, which on further work-up was diagnosed as locally advanced carcinoma breast, that required a mastectomy and axillary node dissection on the same side and revealed NE differentiation on histopathological examination. Hence, immunohistochemical staining was indicated which confirmed NE differentiation. We discuss the current knowledge on incidence, demographics, diagnosis, histopathological and staining characteristics, prognostic factors and treatment modalities of BNENs.
Guillain-Barre Syndrome following SARS-COVID-19 Infection: A Case Report from India
Authors: Abhishek Singhai, Akshit Budhiraja
Journal: Case Rep Infect Dis (2021)
MeSH terms: Case Reports

Severe acute respiratory syndrome coronavirus 2 (SARS-COVID-19) is a novel coronavirus that started in Wuhan City in China in December 2019. It can cause acute respiratory infection. Guillain-Barre syndrome (GBS) is an autoimmune disease characterized by rapidly progressing ascending paralysis that is triggered by an infection or immune stimulation which produces an abnormal immune response that targets peripheral nerves. In most cases, it is preceded by a bacterial or viral infection. This is a case of a 36-year-old male patient from India who developed progressive acute flaccid paralysis after SARS-COVID-19 infection. Clinical examination and lab studies lead to the diagnosis of GBS. The patient was treated with intravenous immunoglobulins and supportive treatment. Following treatment, there was a substantial improvement in weakness as reported by the patient and was confirmed by clinical evaluation. This is an uncommon manifestation of SARS-COVID-19 infection and suggests the presence of an immune-mediated process leading to damage of the nervous system.
7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetrance
Authors: Sara Delgado, Milen Velinov
Journal: Mol Cytogenet (2015)
Keywords: dlx5, dlx6, dss1, dync1i1, deletion 7q213, ectrodactyly, gene enhancer, shfm1l
MeSH terms: Case Reports

Split hand-split food malformation (SHFM) is a congenital defect of limb development that involves the central rays of the autopod and presents with median clefts of the hands and feet. It often includes syndactyly and aplasia/hypoplasia of the phalanges. SHFM is a genetic condition with high genetic heterogeneity, with at least 6 associated chromosomal loci. A locus in chromosomal region 7q21.3, associated with SHFM is referred to as SHFM1. Genes considered to be associated with SHFM1 are DLX5 and DLX6. These two genes participate in the Wnt pathway that has a role in limb development. The gene DYNC1I1, located proximally (centromeric) to the SHFM1 locus was recently reported to include enhancer sequences involved in limb development in its exons 15 and 17. These sequences were shown to cis-regulate the function of the adjacent SHFM associated genes. We report a family, in which the father and three of his sons carry an approximately 1 Mb deletion in this chromosomal region, arr[hg19]7q21.3(94,769,383-95,801,045)x1. The deleted region is located proximally (centromerically) adjacent to the SHFM region at 7q21.3. It does not include the SHFM candidate genes DLX5 and DLX6, but includes the enhancer sequences within DYNC111 and six other genes centromeric to DYNC1I1. All deletion carriers have various degrees of intellectual disability while two of them have SHFM. This family is the eighth reported family where a chromosome 7q21.3 deletion co-segregating with SHFM involves the enhancer regions within gene DYNC111, but does not involve the genes DLX5 and DLX 6. This is also the third family where decreased penetrance of enhancer-associated SHFM is demonstrated. Intellectual disability was not observed in the previously reported families and may be associated with deficiency of one or more of the 6 genes included in the reported deletion centromeric to DYNC1I1.
A rare case of fibromuscular dysplasia with multifocal coronary artery involvement evaluated by intravascular ultrasound
Authors: Yuya Sakuma, Kazuhiko Nakazato, Takeshi Shimizu, Ayano Ikeda, Himika Ohara, Atsushi Kobayashi, Takayoshi Yamaki, Takafumi Ishida, Yasuchika Takeishi
Journal: J Cardiol Cases (2022)
Keywords: coronary artery disease, fibromuscular dysplasia, intravascular ultrasound, percutaneous coronary intervention
MeSH terms: Case Reports

Fibromuscular dysplasia (FMD) is non-atherosclerotic, non-inflammatory vascular disease that results in arterial stenosis. The lesions in FMD are commonly found in the renal and extracranial carotid and vertebral arteries, but the prevalence of FMD with lesions in the coronary artery is unclear. Although the vascular morphology of coronary artery lesion in FMD is mostly dissection, the following case of FMD showed the stenotic and aneurysmal lesions in coronary arteries, which was treated by percutaneous coronary angioplasty. Several vascular imaging modalities including computed tomographic angiography and catheter angiography are used for diagnosing FMD, however, the intravascular ultrasound (IVUS) imaging of the coronary artery in FMD has not been well studied. Here we describe a rare case of FMD involving multifocal coronary artery lesions with coronary aneurysm which was evaluated by IVUS imaging.
Learning objective:
The vascular morphologies of coronary artery lesion in fibromuscular dysplasia (FMD) mostly appear as coronary dissection, however, multifocal stenotic and aneurysmal lesions can occur in coronary arteries in FMD as the following case shows. The intravascular ultrasound findings of the stenotic coronary lesions in FMD, that were circumferential thickening of intima with various echo patterns and echolucent circumferential thickened media, may help in the diagnosis of FMD involving coronary arteries.
A rare thyroid hormone receptor beta (THRβ) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report
Authors: Kawther El Shafie, Allal Ouhtit, Yousuf Al Farsi, Abeer Al Sayegh, Mohammed Al Shafaee
Journal: J Med Case Rep (2014)

Introduction:
Resistance to thyroid hormone is a rare syndrome, where although the level of thyroid hormone is elevated, the level of thyroid stimulating hormone is not suppressed. The patient in our case report is, to the best of our knowledge, the first with this syndrome identified in Oman.
Case presentation:
In one Omani family, a 15-year-old girl of Arabian origin was pre-diagnosed with resistance to thyroid hormone. Blood sample was collected and deoxyribonucleic acid was isolated for molecular genetic testing. The results revealed a rare mutation A268G in the gene for thyroid hormone receptor beta. We believe that this mutation is the cause of the pathology in our patient.
Conclusion:
We report the presence of a rare mutation in the thyroid hormone receptor beta gene for the first time in the Omani population. Due to the rates of consanguinity being high among the Omani population, we are aiming to screen our patient's family members and provide genetic counseling.
Clinical epidemiology of venous thromboembolic disease: An institutional registry
Authors: Mohammed AlSheef, Fouad Taiwilaa Alshammari, Mashel Khalid Alhawish, Abduljabar Ghazi Alghamdi, Abdullah Fahad Alqudhybi, Amani Abu-Shaheen
Journal: Front Cardiovasc Med (2022)
Keywords: pe and dvt, vte, epidemiology, provoked vte, unprovoked vte, venous thromboembolism

Introduction:
Venous thromboembolism (VTE) is a major health concern, with an annual incidence of ~1 in 1,000. The epidemiology of VTE in Saudi Arabia has not been adequately described yet. Therefore, this study aimed to assess the clinical characteristics, risk factors, diagnostic methods, management, and clinical outcomes of patients with VTE.
Methods:
This study was based on a VTE registry created over ten years at King Fahad Medical City (KFMC) in Riyadh, Saudi Arabia. All adult inpatients and outpatients referred to the thrombosis unit of the KFMC with clinically suspected VTE including pulmonary embolism (PE) and deep vein thrombosis (DVT) were enrolled. Data were collected using a standardized case report form, which included demographic and clinical characteristics, risk factors, diagnostic methods, management, and outcomes.
Results:
A total of 1,008 patients were recruited. Most patients were women (73.2%), and more than half of all patients had unprovoked VTE (58%). Among the provoked cases, the most frequent cause was surgery (29.8%), followed by hospitalization (24.2%). There was a significant statistical association between provoked status and sex, family history of VTE, smoking, recent hospitalization within 3 months for a medical condition, the site of VTE, and underlying peripheral vascular disease and varicose veins (all p < 0.05). The majority (88.3%) of patients with deep vein thrombosis was hospitalized for ≤3 days (n = 433, 79.9%), while fewer than half of the patients with PE needed hospitalization (45.3%). Thrombolytic therapy was administered to 14.1% (n = 142) of patients, and catheter-directed thrombolysis was performed in 1.0% (n = 10) of patients. The odds of mortality for provoked VTE were 3.20 times higher than those of unprovoked VTE [2.12-4.83; p-value < 0.001].
Conclusion:
Unprovoked VTE was more common than provoked VTE in the Saudi Arabian cohort, implying hereditary predisposition. Furthermore, male sex, family history of VTE, prior history of VTE, type of VTE, underlying obesity, history of trauma, surgery, hospitalization, pregnancy, and 3-6 months of anticoagulation therapy were the most critical risk factors for VTE recurrence. The treatment patterns and clinical results were comparable to those reported in the literature.
Personal Experience of Daboia siamensis Envenomation
Authors: Tein-Shun Tsai, Chun-Chieh Liu, Po-Chun Chuang
Journal: Case Rep Med (2021)
MeSH terms: Case Reports

Reports of envenomation induced by Daboia siamensis, a medically important venomous snake in Taiwan, are rare, and species identification might not be definitive. This article reports the complete course of a definite D. siamensis bite. The patient in this report was one of the authors who was bitten on the right palm near the base of the index finger by D. siamensis. The patient experienced local effects, neurological manifestations, and acute kidney injury. The laboratory analysis revealed elevated D-dimer and coagulopathy. The patient was administered 8 vials of antivenom and did not undergo surgical intervention or endotracheal tube intubation, but serum sickness occurred 8 days after antivenom administration. The horse immunoglobulin produced by the Centers for Disease Control, R. O. C. (Taiwan), against D. siamensis was effective and safe in the treatment of the patient. However, the best antivenom administration strategy remains unclear and requires further study.
Leptomeningeal Carcinomatosis From Carcinoma of Unknown Primary in a Young Patient: A Case Report and a Literature Review
Authors: Leila Moosavi, Carlos D'Assumpcao, Jonathan Bowen, Arash Heidari, Everardo Cobos
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: carcinoma of unknown primary, caudal type homeobox 2, cytokeratin, leptomeningeal carcinomatosis, leptomeningeal metastasis, ovarian mucinous carcinoma, placental alkaline phosphatase
MeSH terms: Meningeal Carcinomatosis / secondary, Neoplasms, Unknown Primary / diagnosis, Neoplasms, Unknown Primary / pathology, Case Reports, Review, Adult, Female, Humans, Meningeal Carcinomatosis / diagnosis, Meningeal Carcinomatosis / diagnostic imaging, Meningeal Carcinomatosis / pathology, Neuroimaging, Tomography, X-Ray Computed, Ultrasonography

Leptomeningeal carcinomatosis, leptomeningeal meningitis, or, as referred here, leptomeningeal metastasis (LM), is a rare but frequently fatal complication seen in advanced stage of cancer either locally advanced or after a metastasis of a known primary cancer. We present a rare and uncommon case of leptomeningeal metastases from carcinoma of unknown primary. A 32-year-old female was diagnosed with LM; however, no known primary carcinoma was identified after 2 separate biopsies. The first biopsy of the right pre-tracheal lymph node showed poorly differentiated pan-keratin (AE1 and AE3) and placental alkaline phosphatase with the possibility of germ cell origin. Second cytology of cervical lymphadenopathy was remarkable for cytokeratin 7 and 20, placental alkaline phosphatase, and CDX2 suggestive of germ line tumor with both mucinous ovarian and gastrointestinal carcinomas. Unfortunately, the LM progressed rapidly despite multiple cycles of germ cell origin directed systemic and intrathecal chemotherapy, and the patient opted for hospice care without getting a chance to identify the primary source.
Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases
Authors: Carl Ludwig Behnes, Christina Schlegel, Moneef Shoukier, Isabella Magiera, Frank Henschke, Alexander Schwarz, Felix Bremmer, Hagen Loertzer
Journal: BMC Urol (2013)
MeSH terms: Carcinoma, Renal Cell / secondary, Kidney Neoplasms / secondary, Lymph Nodes / pathology, Neoplasms, Multiple Primary / genetics, Case Reports, Adult, Biopsy, Carcinoma, Renal Cell / genetics, Carcinoma, Renal Cell / pathology, Female, Fumarate Hydratase / genetics, Genetic Predisposition to Disease, Humans, Kidney Neoplasms / genetics, Kidney Neoplasms / pathology, Leiomyomatosis / genetics, Leiomyomatosis / pathology, Lymphatic Metastasis, Mutation, Missense, Neck, Neoplastic Syndromes, Hereditary / genetics, Neoplastic Syndromes, Hereditary / pathology, Skin Neoplasms, Uterine Neoplasms, Fumarate Hydratase, Hereditary leiomyomatosis and renal cell cancer

Background:
Papillary renal cell carcinoma is a rare cancer. Some cases can be attributed to individuals with hereditary renal cell carcinomas usually consisting of the clear cell subtype. In addition, two syndromes with hereditary papillary renal cell carcinoma have been described. One is the hereditary leiomyomatosis and renal cell carcinoma, which is characterized by cutaneous and uterine leiomyomas and renal cell carcinoma mostly consisting of the papillary renal cell carcinoma type II with a worse prognosis.
Case presentation:
We describe a case of a 30-year-old woman with hereditary leiomyomatosis and renal cell carcinoma syndrome with extensively metastasized papillary renal cell carcinoma, primarily diagnosed in a cervical lymph node lacking leiomyomas at any site.
Conclusion:
Papillary renal cell carcinoma in young patients should be further investigated for a hereditary variant like the hereditary leiomyomatosis and renal cell carcinoma even if leiomyomas could not be detected. A detailed histological examination and search for mutations is essential for the survival of patients and relatives.
A Family with a High Incidence of Migraine and Vestibular Migraine and a Case of Menière's Disease
Authors: Marco Familiari, Omar Gatti, Iacopo Cangiano, Roberto Teggi
Journal: Case Rep Med (2021)
MeSH terms: Case Reports

Vestibular migraine (VM) and Menière's disease (MD) are common neurotological disorders causing episodic vertigo. Sometimes, VM is accompanied by cochlear symptoms suggestive for MD. Therefore, in those cases, the differential diagnosis between the two disorders can be difficult. Moreover, a comorbidity with migraine in MD patients is widely reported, up to the hypothesis of a possible MD-VM overlapping syndrome. In this brief case report, we consider the clinical history of a family presenting high incidence of subjects fulfilling the diagnostic criteria of VM and single case fulfilling criteria for definite MD. The relationship between VM and MD is still under debate; anyway, it can be speculated that commonly shared genetic mutations could play a role as predisposing factors in both disorders. A congenital nystagmus in the family was present too, but its correlation with the other conditions is still not clear. Future goal of our work will be to assess genetics in this family.
Relapsed acute lymphoblastic leukemia with unusual multiple bone invasions: A case report
Authors: Mayumi Hangai, Kentaro Watanabe, Ryosuke Shiozawa, Mitsuteru Hiwatari, Kohmei Ida, Junko Takita
Journal: Oncol Lett (2014)
Keywords: acute lymphoblastic leukemia, bone relapse, computed tomography, positron emission tomography

The present study describes a unique pediatric case with multiple bone invasions of acute lymphoblastic leukemia (ALL) during remission. An eight-year-old male with a history of ALL was admitted complaining of intermittent and migrating pain in the limb 2 years following complete remission. Magnetic resonance imaging and whole-body positron emission tomography with 18F-fluorodeoxyglucose revealed abnormal multifocal involvement in the bones and corresponding soft tissues. Repeated bone marrow (BM) aspiration indicated normal cellular marrow without leukemic cells, and marked leukemic cell infiltration in different sections of the ilium, respectively. These findings suggested isolated bone relapse, and it is probable that systematic BM relapse occurred as a consequence.
Diffuse Idiopathic Skeletal Hyperostosis: Persistent Sore Throat and Dysphagia in an Elderly Smoker Male
Authors: Ana Goico-Alburquerque, Beenish Zulfiqar, Ranae Antoine, Mohammed Samee
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Diffuse idiopathic skeletal hyperostosis (DISH) is rarely symptomatic. However, it can present with dyspnea, hoarseness, dysphagia, and stridor. An 80-year-old chronic smoker male presented with 6-month history of sore throat and progressive dysphagia. Computed tomography of the neck revealed bulky anterior bridging syndesmophytes along the anterior aspect of the cervical spine and facet effusion involving four contiguous vertebrae consistent with DISH. Dysphagia secondary to DISH was diagnosed. Fiberoptic laryngoscopy showed bilateral vocal cord paralysis. Patient's airway became compromised requiring tracheostomy tube placement. After discussion of therapeutic options, patient agreed on a percutaneous endoscopic gastrostomy tube insertion for nutritional support. Osteophytectomy was left to be discussed further.
Local Excision of a Mucinous Adenocarcinoma of the Anal Margin (Extramammary Paget's Disease) and Reconstruction with a Bilateral V-Y Flap
Authors: Michele Pagnanelli, Paola De Nardi, Stefano Martella, Luca Caruso, Riccardo Rosati
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

The case of a 75-year-old female with invasive extramammary Paget's disease of the anal margin, without involvement of the anal canal, is reported. The patient underwent wide local excision of the lesion with reconstruction with a double V-Y flap, a biopsy of the inguinal sentinel node, and a laparoscopic temporary colostomy. No guidelines exist on the treatment of this rare disease, and both wide local excision and abdominoperineal resection have been proposed. In the present case, the absence of invasion of the anal canal, also confirmed by intraoperative biopsies on the resection margins, and of local lymph node metastasis, as confirmed by the sentinel lymph node biopsy, allowed a sphincter-sparing operation with good functional and oncological results.
Bidirectional Ventricular Tachycardia with Stress-Induced Cardiomyopathy
Authors: Ariyon Schreiber, Michael Gardner, Chris Soussu, Natasha Green, Chowdhury Ahsan
Journal: Case Rep Cardiol (2022)
MeSH terms: Case Reports

Bidirectional ventricular tachycardia (BDVT) is a rare electrocardiographic finding characterized by rapid, wide complex, alternating QRS morphology with 180-degree swings in the frontal plane axis or, less commonly, alternating right bundle branch and left bundle branch block morphology. The most proposed mechanisms for BDVT involve triggered activity or enhanced automaticity resulting from calcium dysregulation. Catecholamine surge can cause myocardial injury as well as calcium dysregulation resulting in enhanced automaticity that can lead to arrhythmias such as BDVT. This case report stands to describe a unique presentation of BDVT and stress-induced cardiomyopathy, resulting from catecholamine surge following multiple traumatic gunshot wounds in the setting of methamphetamine use.
A staged approach with initial tumor thrombectomy followed by hepatectomy for icteric-type hepatocellular carcinoma: A case report
Authors: Takehisa Yazawa, Takehiro Ohta, Shun-Ichi Ariizumi, Yutaka Takahashi, Ryota Higuchi, Masakazu Yamamoto
Journal: Int J Surg Case Rep (2019)
Keywords: biliary drainage, hemobilia, tumor thrombus in the bile duct

Introduction:
Biliary drainage for patients with icteric-type hepatocellular carcinoma (HCC) is sometimes difficult, because the drainage tube makes contact with the tumor thrombus (TT) and effective drainage cannot be achieved due to hemobilia.
Presentation of case:
We performed endoscopic naso-biliary drainage for an icteric-type HCC patient; however, the serum bilirubin level was not decreased due to bleeding from the TT. Therefore, we performed tumor thrombectomy in the bile duct and transection of the right hepatic bile duct prior to right hepatectomy. After the first operation, the bilirubin level was decreased, and liver function was recovered so that the patient could undergo right hepatectomy 4 months after the first operation. The postoperative course was uneventful after the second operation and the patient was discharged from the hospital on the 30th postoperative day. The patient is well without recurrence 10 years after surgery.
Conclusion:
Biliary drainage is one of the key points for successful treatment of icteric-type HCC patients. A staged approach with initial tumor thrombectomy followed by hepatectomy should be considered as one of the options for icteric-type HCC.