OpenMed/multicare-articles huggingface dataset:
Heterogeneous clinicopathological findings and patient-reported outcomes in adults with MN1-altered CNS tumors: A case report and systematic literature review
Authors: Stephen C Frederico, Elizabeth Vera, Zied Abdullaev, Alvina Acquaye, Kenneth Aldape, Lisa Boris, Nicole Briceno, Anna Choi, Alexa Christ, Diane Cooper, Ewa Grajkowska, Tricia Kunst, Heather E Leeper, Jason Levine, Nicole Lollo, Drew Pratt, Martha Quezado, Ritu Shah, Kathleen Wall, Mark R Gilbert, Terri S Armstrong, Marta Penas-Prado
Journal: Front Oncol (2023)
Keywords: cns, hgnet-mn1, mn1, adult, astroblastoma, rare cns tumor
MeSH terms: Case Reports

The uncommon MN1-altered primary central nervous system (CNS) tumors were recently added to the World Health Organization 2021 classification under the name Astroblastoma, MN1-altered. Another term used to describe them, "High-grade neuroepithelial tumor with MN1 alteration" (HGNET-MN1), makes reference to their distinct epigenetic profile but is currently not a recommended name. Thought to occur most commonly in children and predominantly in females, MN1-altered CNS tumors are associated with typical but not pathognomonic histological patterns and are characterized by a distinct DNA methylation profile and recurrent fusions implicating the MN1 (meningioma 1) gene. Diagnosis based on histological features alone is challenging: most cases with morphological features of astroblastoma (but not all) show these molecular features, whereas not all tumors with MN1 fusions show astroblastoma morphology. There is large variability in reported outcomes and detailed clinical and therapeutic information is frequently missing. Some patients experience multiple recurrences despite multimodality treatment, whereas others experience no recurrence after surgical resection alone, suggesting large clinical and biological heterogeneity despite unifying epigenetic features and recurrent fusions. In this report, we present the demographics, tumor characteristics, treatment, and outcome (including patient-reported outcomes) of three adults with MN1-altered primary CNS tumors diagnosed via genome-wide DNA methylation and RNA sequencing. All three patients were females and two of them were diagnosed as young adults. By reporting our neuropathological and clinical findings and comparing them with previously published cases we provide insight into the clinical heterogeneity of this tumor. Additionally, we propose a model for prospective, comprehensive, and systematic collection of clinical data in addition to neuropathological data, including standardized patient-reported outcomes.
Evaluation of Androgen Receptor in Relation to Estrogen Receptor (AR/ER) and Progesterone Receptor (AR/PgR): A New Must in Breast Cancer?
Authors: Giuseppe Bronte, Andrea Rocca, Sara Ravaioli, Emanuela Scarpi, Massimiliano Bonafè, Maurizio Puccetti, Roberta Maltoni, Daniele Andreis, Giovanni Martinelli, Sara Bravaccini
Journal: J Oncol (2019)

Steroid nuclear receptors are known to be involved in the regulation of epithelial-mesenchymal transition process with important roles in invasion and metastasis initiation. Androgen receptor (AR) has been extensively studied, but its role in relation to breast cancer patient prognosis remains to be clarified. AR/ER ratio has been reported to be an unfavorable prognostic marker in early primary breast cancer, but its role in the patients with advanced disease has to be cleared. We retrospectively analyzed ER, PgR, and AR expression on a case series of 159 specimens of primary BC samples by using immunohistochemistry and 89 patients of these had luminal tumors for which AR and ER expression and survival data were available. For twenty-four patients both primary and metastatic tumors were available. A significantly shorter overall survival was observed in primary tumors with AR/PgR ratio ≥ 1.54 (HR = 2.27; 95% CI 1.30-3.97; p = 0.004). Similarly OS was significantly shorter when ER/PgR ratio ≥2 in primary tumors (HR = 1.89; 95% CI 1.10-3.24; p = 0.021). The analysis of the 24 patients who had biomarker determinations both in primary tumors and metastasis showed a better OS when AR/ER ratio in the metastasis was ≥ 0.90 (p = 0.022). Patients with a high AR/ER ratio in primary tumor that remained high in the metastasis had better prognosis in terms of OS (p = 0.011). Despite we suggested that the ratios AR/ER and AR/PgR could be used to identify patients with different prognosis, their real value needs to be better clarified in different BC settings through prospective studies.
Hepatocyte growth factor level in cerebrospinal fluid as an additional marker in patient with drug-resistant streptococcus pneumoniae meningitis treated with linezolid
Authors: Hung-Chin Tsai, Yao-Shen Chen, Susan Shin-Jung Lee, Yu-Hung Lin, Shue-Ren Wann, Cheng Len Sy, Yung-Ching Liu
Journal: Clin Med Case Rep (2008)
Keywords: streptococcus pneumoniae, drug-resistance, hepatocyte growth factor, linezolid, meningitis
MeSH terms: Case Reports

Hepatocyte growth factor (HGF) is a multifunctional cytokine that has well-defined mitogenic, motogenic, and morphogenic functions on the epithelial cells. Strong increases of HGF concentrations in cerebrospinal fluid (CSF) are only present in patients with acute bacterial meningitis. We report a 15-year-old young man with drug resistant Streptococcus pneumoniae meningitis complicated with right 6th cranial nerve palsy. He presented with fever, headache and neck stiffness for 3 days and was treated with intravenous antimicrobial agents including linezolid and dexamethasone successfully. An association between CSF HGF concentrations and CSF proteins is observed (r = 0.897, p = 0.039. Pearson correlation test). This result showed that HGF level in CSF might act as an additional marker in patients with bacterial meningitis.
Pyruvate Kinase Deficiency Causing Priapism
Authors: Vinay Hanyalu Shankar, Bharadwaj Adithya-Sateesh, Nicole Gousy, Girma Ayele, Freyr Petursson, Rediet Atalay, Miriam Michael
Journal: Case Rep Hematol (2023)
MeSH terms: Case Reports

Pyruvate kinase deficiency (PKD) is an autosomal recessive defect of the enzyme pyruvate kinase (PK) which is involved in catalyzing a reaction that produces ATP in the glycolytic pathway. It is the most common defect of the glycolytic pathway associated with congenital anemia. Patients usually present with signs of chronic hemolytic anemia such as hyperbilirubinemia, splenomegaly, reticulocytosis, and gallstones; the presentation can vary by age. Diagnosis is usually made by demonstration of decreased PK enzymatic activity in a spectrophotometric assay and on the detection of mutations in the PK-LR gene. Management strategies vary from full splenectomies to hematopoietic stem cell transplants with gene therapies with transfusions and administration of PK-activators coming in between. Thromboembolic complications do occur in patients with splenectomy, but there are not much data regarding this for patients with PKD. We present a case of a patient with PKD who demonstrated priapism to be a thromboembolic complication. This differs greatly as priapism has been frequently reported in patients with other chronic hemoglobinopathies such as sickle cell disease, thalassemia, and G6PD with and without splenectomy. While it is still unclear how splenectomies can result in thrombotic events in PKD, there does appear to be a correlation between splenectomies with resultant thrombocytosis with increased platelet adhesion.
A Novel Approach to extrude Subgingivally Fractured Tooth using Customized Removable Appliance
Authors: Ziauddin Mohammad, Sarada Penmetcha, Apeksha Bagalkotkar, Srinivas Namineni
Journal: Int J Clin Pediatr Dent (2018)
Keywords: begg bracket, complicated crown root fracture, fiber post, orthodontic extrusion, rolled cone technique
MeSH terms: Case Reports

Traumatic dental injuries (TDIs) are common in growing children. Among all the dental injuries, complicated crown root fractures (Andreasen Class VI) of maxillary permanent anterior teeth are relatively widespread. Such fractured teeth are often considered as hopeless and are extracted. However, if the tooth is to be retained, various treatment strategies have been proposed. The aim of the present case report is to suggest a new technique to treat a complicated crown root fracture. The management of this case included endodontic procedure and orthodontic extrusion to move the fracture line above the supragingival level. A customized removable Hawley's appliance with a modified single cantilever spring was fabricated and an anchoring Begg bracket was bonded on the residual crown of the tooth. This method is useful in the mixed dentition when there is insufficient anchorage of adjacent teeth because of preshedding mobility and trauma. How to cite this article: Mohammad Z, Penmetcha S, Bagalkotkar A, Namineni S. A Novel Approach to extrude Subgingivally Fractured Tooth using Customized Removable Appliance. Int J Clin Pediatr Dent 2018;11(1):53-57.
Endobronchial Metastasis of Renal Carcinoma: A Case Report and Review of Previous Literature
Authors: Guang-Lei Zhang, Shu Chen, Jin-Dong Li, Chun-Guang Wang
Journal: Front Surg (2021)
Keywords: diagnosis, endobronchial metastasis, renal cell carcinoma, surgical therapy, treatment

The definition of endobronchial metastasis (EBM) lacks clarity because it is currently based on the judgments of surgeons; it is rare in patients with nonpulmonary malignancies. Although EBM represents an advanced stage of malignancy, it does not necessarily indicate a poorer prognosis than that for its primary tumors. The present study defines EBM as bronchoscopy-visible lesions with histologically confirmed primary extrapulmonary tumors, excluding those primary lung tumors with involvement of the bronchial lumen. A bronchoscopy and biopsy provide strong proof for diagnosis. Complete surgical resection is the best choice for patients with EBM. This study analyzed the case of a 69-year-old male patient who had undergone a radical left nephrectomy several years previously after the identification of a bronchoscopy-visible lesion in the left main bronchus. The lesion was initially diagnosed as an angiogenic tumor but was eventually confirmed by surgical biopsy as EBM from the left kidney. After diagnosis, the patient underwent a left pneumonectomy. The analysis of this case focused on diagnosis, symptoms, radiographic findings, treatment, and prognosis. A review of the previous literature relating to EBM was also conducted.
Malignant Isolated Cortical Vein Thrombosis as the Initial Manifestation of Primary Antiphospholipid Syndrome: Lessons on Diagnosis and Management From a Case Report
Authors: Jie Shen, Zi Tao, Wei Chen, Jing Sun, Yan Li, Fangwang Fu
Journal: Front Immunol (2022)
Keywords: anticoagulation, antiphospholipid syndrome, case report, cortical vein thrombosis, decompressive craniectomy, magnetic resonance
MeSH terms: Antiphospholipid Syndrome / complications, Antiphospholipid Syndrome / diagnosis, Antiphospholipid Syndrome / drug therapy, Ischemic Stroke, Thrombosis / etiology, Venous Thrombosis / diagnosis, Venous Thrombosis / drug therapy, Venous Thrombosis / etiology, Case Reports, Research Support, Non-U.S. Gov't, Aged, Female, Heparin, Low-Molecular-Weight / therapeutic use, Humans, Heparin, Low-Molecular-Weight

Background:
Antiphospholipid syndrome (APS) with isolated cortical vein thrombosis (ICoVT) is an extremely rare but potentially malignant entity. It is particularly challenging to diagnose APS-related ICoVT because of the non-specific clinical manifestations and the frequent absence of typical neuroimaging. Moreover, there is currently limited knowledge on the clinical features and management strategies for the condition. Delays in diagnosis and treatment may lead to life-threatening consequences.
Case presentation:
We present a rare case of a 74-year-old Chinese woman who presented with sudden onset of headache and right arm weakness that mimicked acute ischemic stroke. Her initial computed tomography was unremarkable, and intravenous thrombolysis was performed. Serial neuroimages confirmed ICoVT 4 days after symptom onset, and low-molecular-weight heparin (LMWH) was started at a dose of 0.4 ml twice per day, according to the 2019 Chinese guidelines. The workup for the predisposing causes of ICoVT revealed triple positivity APS. LMWH dose was adjusted according to the anti-Xa chromogenic assay. However, the patient's condition deteriorated rapidly, and there was a progressive enlargement of the venous infarction despite treatment with anticoagulants. Transtentorial herniation developed on day 12, and decompressive craniectomy was immediately performed. The patient's symptoms did not improve significantly after surgery, and she remained aphasic and hemiplegic at the 3-month follow-up, with a modified Rankin Scale score of 5.
Conclusion:
ICoVT is a rare yet potentially fatal manifestation of APS, and its diagnosis and treatment are extremely challenging. Timely diagnosis, prompt treatment, and close monitoring are essential to improve the clinical prognosis of patients with APS-related ICoVT.
A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability
Authors: Haiming Yuan, Zhe Meng, Lina Zhang, Xiangyang Luo, Liping Liu, Mengfan Chen, Xinwei Li, Weiwei Zhao, Liyang Liang
Journal: Mol Cytogenet (2016)
Keywords: global developmental delay, hypogonadism, intellectual disability, interstitial duplication15q153q212, short stature
MeSH terms: Case Reports

Background:
Interstitial duplications distal to 15q13 are very rare.
Case presentation:
Here, we reported a 14-year-old boy with severe short stature, delayed bone age, hypogonadism, global developmental delay and intellectual disability. His had distinctive facial features including macrocephaly, broad forehead, deep-set and widely spaced eyes, broad nose bridge, shallow philtrum and thick lips. A de novo 6.4 Mb interstitial duplication of 15q15.3q21.2 was detected by chromosomal microarray analysis. We compared our patient's clinical phenotypes with those of several individuals with overlapping duplications and several candidate genes responsible for the phenotypes were identified as well.
Conclusion:
The results suggest a novel contiguous gene duplication syndrome characterized with shared features including short stature, hypogonadism, global developmental delay and other congenital anomalies.
Reversible Adrenal Insufficiency in Three Patients With Post-Roux-en-Y Gastric Bypass Noninsulinoma Pancreatogenous Hypoglycemia Syndrome
Authors: Shelly Mathur, Jasmine Boparai, Sanjay N Mediwala, Jose M Garcia, Glenn R Cunningham, Marco Marcelli, Madhuri M Vasudevan
Journal: J Investig Med High Impact Case Rep (2014)
Keywords: roux-en-y gastric bypass, adrenal insufficiency, noninsulinoma pancreatogenous hypoglycemia syndrome

Objective. Noninsulinoma pancreatogenous hypoglycemia syndrome (NIPHS) is a disorder of endogenous hyperinsulinemia that is clinically distinguishable from insulinoma, with a greater preponderance after Roux-en-Y gastric bypass (RYBG). Hyperinsulinemic hypoglycemia can predispose to attenuation of counterregulatory hormone responses to hypoglycemia, and consequent suppression of the hypothalamic-pituitary-adrenal (HPA) axis. This case series describes 3 individuals who were diagnosed with adrenal insufficiency (AI) after undergoing RYGB, complicated by NIPHS. Methods. A retrospective chart review was performed for each individual. Chart review applied particular attention to the onset of hyperinsulinemic hypoglycemia following bariatric surgery and the dynamic testing leading to the diagnoses of NIPHS and AI. Results. In each case, reactive hypoglycemia ensued within months to years after RYGB. Cosyntropin stimulation testing confirmed the diagnosis of AI. Hydrocortisone therapy reduced the frequency and severity of hypoglycemia and was continued until successful medical and/or surgical management of hyperinsulinism occurred. Follow-up testing of the HPA axis demonstrated resolution of AI. In all cases, hydrocortisone therapy was finally discontinued without incident. Conclusion. We speculate that transient AI is a potential complication in patients who experience recurrent hyperinsulinemic hypoglycemia after RYGB. The putative mechanism for this observation may be attenuation of the HPA axis after prolonged exposure to severe, recurrent hypoglycemia. We conclude that biochemical screening for AI should be considered in individuals who develop post-RYGB hyperinsulinemic hypoglycemia. If AI is diagnosed, supportive treatment should be maintained until hyperinsulinemic hypoglycemia has been managed effectively.
Case Report: Squamous Cell Carcinoma of Pancreas With High PD-L1 Expression: A Rare Presentation
Authors: Baohong Yang, Haipeng Ren, Guohua Yu
Journal: Front Oncol (2021)
Keywords: anti-pd 1, chemotherapy, immunotherapy, pancreas cancer, squamous cell carcinoma
MeSH terms: Case Reports

Primary pancreatic squamous cell carcinoma is sporadic. The diagnosis is usually made following surgery or needle biopsy and requires a thorough workup to exclude metastatic squamous cell carcinoma. Squamous cell carcinoma of the pancreas often has a very poor prognosis. There is no treatment guideline for this type of cancer, and to date, no therapeutic regimen has been proven effective. Here, we report the effectiveness of immunotherapy in combination with chemotherapy against locally advanced squamous cell carcinoma of the pancreas with high programmed cell death ligand 1 (PD-L1) expression. Regional intra-arterial infusion chemotherapy consisting of nab-Paclitaxel followed by gemcitabine infused via gastroduodenal artery every three weeks for two cycles. This therapy resulted in the depletion of carcinoma, and the patient continues to lead a high-quality life with no symptoms for more than 16 months.
Novel surgical approach without bowel resection for multiple gastrointestinal lipomatosis: A case report
Authors: Yasunori Yoshimoto, Tomoharu Yoshida, Takahisa Fujikawa, Yasuyuki Shirai, Tsunenori Yamamoto
Journal: Int J Surg Case Rep (2019)
Keywords: endoscopic submucosal dissection (esd), intussusception, local excision, multiple gastrointestinal lipomatosis

Introduction:
Asymptomatic lipoma only requires observation, whereas symptomatic lipoma requires treatment such as endoscopic or surgical resection. However, in case of multiple lipomas, with evident diffusion and malignancy, resection procedure and range cannot be determined. We experienced GI lipomatosis (multiple lipomas) diffusely existing from the duodenum to the small intestine and involved recurrent intussusception.
Presentation of case:
47 year-old female was a history of open bowel resection for intestinal obstruction caused by intussusceptions of multiple small intestinal lipoma 11 years ago. EGD showed duodenal lipoma, and CT showed diffuse multiple lipomas from the proximal jejunum to the distal ileum. Another CT also showed intussusception of small intestine, but no signs of intestinal obstruction. Surgical procedures performed included diagnostic laparoscopy. All intestinal lipomas were resected with local excision, and duodenal lipoma was resected with ESD without any bowel resection.
Discussion:
Multiple local excision ESD for multiple GI lipomatosis have not been reported. The most problematic thing is that if extensive resection is performed to cut off all multiple lipoma, short bowel syndrome may occur. Determining the range to be cut remains unclear.
Conclusions:
Multiple local excision ± ESD seemed to be one of the methods in resecting multiple GI lipomatosis. In the future, cases and indications of surgery and resection method for GI lipoma should be accumulated and considered, respectively.
Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6
Authors: Mohammed Abdulmageed Kambal, Doha Ayed Al-Harbi, Areej Rashed Al-Sunaid, Mohsen Suliaman Al-Atawi
Journal: Front Pediatr (2019)
Keywords: mody (maturity-onset of diabetes in the young), c983a>t p(asp328val), cholestasis, congenital, duodenal atresia, homozygous, neonatal diabetes mellitus (ndm), regulatory factor x6 (rfx6)
MeSH terms: Case Reports

We report a Saudi girl who presented at birth with neonatal diabetes, duodenal atresia, and progressive cholestasis. After other gene testing was negative, the clinical diagnosis of Mitchell-Riley syndrome was ultimately considered and further genetic analysis revealed a novel missense homozygous variant in RFX6: c.983A>T (p.asp328Val). Despite intensive management, the patient died from severe Klebsiella pneumoniae sepsis at 5 months of age. This rare syndrome should be suspected in any neonate with hyperglycemia complicated by intestinal atresia and/or progressive cholestasis that could suggest biliary hypoplasia. Early recognition and diagnosis through genetic testing are essential for guiding aggressive clinical management as well as family counseling, particularly in light of the high possibility of early death in this highly complex disorder.
Dural tear from diagnostic lumbar puncture followed by long-term morbidity: a case report
Authors: Aleksander Fjeld Haugstvedt, Inger Birgitte Havsteen, Hanne Christensen
Journal: Neurol Res Pract (2020)
Keywords: general neurology, post dural-puncture headache, spinal puncture

Background:
Lumbar punctures are performed in different medical settings and are a key procedure in the diagnosis of several neurological conditions. Complications are rare and generally self-limiting. There are no reports of symptomatic accumulation of fluid in the epidural space after lumbar puncture in adults and there are no studies on long-term outcome after post dural puncture headache (PDPH).
Case:
A lumbar puncture was performed in a 29 y.o. slender woman with unspecific symptoms to rule out neuro-infection. Next day MRI showed substantial accumulation of CSF in the epidural space from C2 to the sacrum dislocating the spinal chord in the spinal canal. The condition was ameliorated by epidural blood-patching. At 5 months she was still impaired by severe orthostatic headache.
Conclusions:
The only plausible explanation for the massive CSF leak was a dural tear occurring during multiple attempts of lumbar puncture. Anterior dislocation of the spinal chord due to CSF leak is not a recognised complication to lumbar puncture. This complication was followed by long-term disability in our case. The diagnosis can be made by MRI. A difficult procedure with several attempts and use of traumatic technique may increase risk of this complication.
Successfully Treated Norovirus- and Sapovirus-Associated Diarrhea in Three Renal Transplant Patients
Authors: Noha Ghusson, Gustavo Vasquez
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

Objectives:
To examine the burden of norovirus- and sapovirus-related diarrhea in renal transplant patients and to propose the use of nitazoxanide as a therapeutic option for treatment.
Methods:
We reviewed three renal transplant patients with viral diarrhea requiring hospitalization due to acute renal failure and signs of graft rejection. All three patients were treated with nitazoxanide. We examined their clinical courses after therapy and compared time to resolution of symptoms and viral shedding.
Results:
In all three renal transplant patients, improvement of diarrheal illness was witnessed within one week of nitazoxanide initiation.
Conclusions:
Infectious diarrhea remains an underestimated yet significant cause of morbidity in solid organ transplant patients. Norovirus and sapovirus are often responsible for this presentation. Nitazoxanide was used as a treatment modality with success in reduction of symptoms, decreased duration of illness, and cessation of viral shedding.