bluuebunny/crossref_metadata_2025_split huggingface dataset:
Paraneoplastic Limbic Encephalitis Secondary To Mixed Non-Seminomatous Germ Cell Tumours
Authors: Ullah A , Heneidi S , Biddinger P , Patel N , Wehrle C , Sinkler M , Klaassen Z , Kruse E , Nichols F , Wallace G 
Published: October 2020

Abstract
Casestudy: Testicular tumors account for 1–2% of all tumors in men, with 95% of these being germ cell tumors. The main risk factor for the development of testicular cancer is cryptorchidism. Paraneoplastic limbic encephalitis is a rare sequela of testicular tumor associated with anti-Ma2 and KLH11 antibodies. The most effective treatment for paraneoplastic limbic encephalitis is treatment of the primary malignancy.
We present a 41-year-old male that presented to the emergency department with two weeks of episodic alteration of consciousness and memory disturbances. Negative neurologic evaluation and imaging led to concern for a paraneoplastic process from a distant malignancy. CT imaging revealed an enlarged, necrotic para-aortic lymph node and subsequent ultrasound demonstrated a right sided testicular mass. Right radical orchiectomy was performed.
Microscopically, the mass consisted of mixed respiratory epithelium, gastrointestinal glands and squamous epithelium with keratinization consistent with a post-pubertal testicular teratoma with associated in-situ germ cell neoplasia.
Resection of the para-aortic mass revealed large anaplastic cells with epithelioid features, nuclear pleomorphism and frequent mitoses. Immunostaining was positive for Pan-Keratin and OCT4, consistent with poorly differentiated embryonal carcinoma. Resection of the primary and metastatic disease, as well as treatment with corticosteroids resulted in resolution of the encephalitis.
This presentation of severe neurological disturbances in the setting of a metastatic mixed nonseminomatous germ cell tumor represents a rare presentation of paraneoplastic limbic encephalitis.
Primary Nodal Lymphangioma: A Rare Case Report and Literature Review
Authors: Youssef B I , Wheeler Y Y 
Published: October 2020

Abstract

Introduction/Objective
Lymphangiomas are benign nodal vascular tumors commonly seen in the skin, mucosa, and soft tissue; however, its occurrence in lymph nodes is extremely rare, with only a few cases reported in English literature.

Methods
We report a case of a 20-year-old female who presented with a 6 cm right upper thigh mass below the inguinal region that has been gradually increasing in size over the past three months. Ultrasound showed a cystic appearance. An excisional biopsy was performed to yield a thin-walled cystic mass filled with clear fluid. The mass appeared to be connected to a regional lymph node. Histologic examination revealed a multiloculated thin-wall cyst involving the hilum of the lymph node. The cyst is lined by flat lymphatic endothelial cells with focally disorganized smooth muscle at the wall of large channels and peripheral lymphoid aggregates. The rest of the lymph node shows reactive change with vascular proliferation and congestion.

Results
Lymphangiomas are soft, relatively well-circumscribed hamartomatous malformations due to the failure of the lymphatic system to communicate with the venous system. This leads to abnormal rests of lymphatic tissue that proliferate and accumulate fluid, causing their cystic morphology. Lymphangiomas are classified as capillary, cavernous, and cystic forms. Imaging techniques such as ultrasonography, mammography, and magnetic resonance imaging may aid in clinical diagnosis and follow-up. Histologically, cavernous lymphangiomas show numerous narrow cavernous spaces lined by a single layer of attenuated endothelial cells, and containing amorphous eosinophilic fluid with few lymphocytes. These spaces may contain blood resulting in misdiagnosis of this lesion as cavernous hemangioma; however, increased lymphoid cells in the stroma, more irregular cavernous spaces, support the diagnosis of lymphangioma.

Conclusion
Lymphangiomas are slowly progressive painless lesions that frequently recur in cases of incomplete excision. It is important to identify this primary nodal lymphangioma to avoid misdiagnosis of benign vascular proliferation, benign vascular tumor, or malignant vascular tumor.
Clinico-pathologic Features of Esophageal Poorly Differentiated Neuroendocrine Carcinomas, a Case Series and Review of Literature
Authors: Perveze I , Rao D 
Published: October 2020

Abstract

Introduction/Objective
Esophageal neuroendocrine carcinomas (NECs) constitute an extremely rare and distinct group of neoplasms. The clinico-pathologic characteristics are poorly understood and differ starkly from high grade well differentiated neuroendocrine tumors. Only one case series describing clinico-pathologic features of NECs has been described in recent literature.

Methods
We describe a case series of three patients highlighting the typical presentation, diagnostic techniques and pathologic attributes for this rare disease process.

Results
All three patients were middle age to elderly with two males (ages 58 and 83) and one female (age 72). The typical presentation was dysphagia (2/3, 66%) followed by severe GERD (1/3, 33%). Typical locations were distal esophagus (2/3, 66%) and gastro-esophageal junction (1/3, 33%). Computed tomography showed bulky masses in all patients (3/3, 100%) with median size of 5.6 cm. PET imaging showed metastatic disease (mediastinal or epigastric lymphadenopathy and lung metastasis) in 2/3, 66% of the patients. All the patients were found to have necrotic masses on EGD with biopsy showing poorly differentiated neuroendocrine carcinoma in all (3/3, 100%). Immuno- histochemical stains revealed Synaptophysin positivity in 3/3, 100%, Chromogranin in 1/3, 33% and CD56 in 1/3, 33% of the patients. Patients with metastatic disease at presentation (2/3, 66%) opted for palliative care while the patient without any evidence of metastasis (1/3, 33%) underwent surgical resection followed by chemotherapy.

Conclusion
ENCs are an exceedingly rare group of malignant neoplasm with variable presentations posing a diagnostic challenge for the clinician and pathologist alike. Most patients tend to be elderly with advanced disease at presentation and guarded prognosis. This case series underscores the importance of including this entity among the differential diagnosis for poorly differentiated carcinomas of the distal esophagus. IHC with positive neuroendocrine markers particularly Synaptophysin helps make the correct diagnosis when combined with typical morphology.
Schistosomiasis with Duodenal Involvement Presenting as Irritable Bowel Syndrome in a 9-Year-Old Patient
Authors: Ding L , Pape E , Kozielski R 
Published: October 2020

Abstract

Introduction/Objective
Schistosomiasis is extremely rare in the United States. Most patients diagnosed in the US have an international travel history or recently immigrated from endemic areas. We report a case of a 9-year-old boy who presented with a three-month history of daily abdominal pain, decreased appetite, weight loss, and microcytic anemia. The patient had alternating symptoms of constipation and diarrhea mimicking Irritable Bowel Syndrome (IBS).

Methods
CT scans showed distal sigmoid colon with wall thickening and hyperenhancement. Stool Helicobacter pylori antigen test was positive and hemoglobin levels were low (11 g/dL). The blood eosinophil count was initially within the normal range but was significantly elevated three months later (2,115 cells/µL).
Esophagogastroduodenoscopy and colonoscopy were performed, which showed patchy areas of erythema and punctate bleeding within the descending and sigmoid colon.

Results
Gastrointestinal tract biopsies revealed focal, prominent eosinophilic infiltrates in the lamina propria. There were multifocal granulomas and fibrosis surrounding Schistosoma ova in the lamina propria and submucosa of duodenum, cecum, colon, and rectum. Acid-fast stain highlights the shell and spine of the ova. A retrospective chart review revealed that the patient had traveled to Yemen one month before the onset of symptoms. Schistosomiasis is among the top differentials for marked, sustained eosinophilia, especially with relevant travel history. Distortions caused by processing and sectioning can make speciation difficult on tissue sections. Acid-fast staining of the shell would favor S. mansoni over S. intercalatum; however, the S. intercalatum-S. hematobium hybrid also has an acid fast–positive shell. The duodenum is an uncommon location to find Schistosoma ova, which are usually found in the rectum and sigmoid colon.

Conclusion
The symptoms of gastrointestinal schistosomiasis may mimic IBS, and eosinophilia may initially be not evident as in this case. However, a high degree of suspicion is required in diagnosing schistosomiasis in patients from endemic areas.
Mismatch Repair Gene Expression In Testicular Germ Cell Tumors And Retroperitoneal Lymph Node Metastasis
Authors: Youssef M , Rodriguez Pena M , Canete-Portillo S , Al Diffalha S , Magi-Galluzzi C 
Published: October 2020

Abstract

Introduction/Objective
Testicular germ cell tumors (TCGT) with somatic mismatch repair pathway defects have shown to have worse prognosis and response to therapy. Immunohistochemical staining pattern of MMR panel was classified in a previous study as low (absent or minimal) and high staining (moderate or high staining), with the low staining pattern suggestive of poor prognosis and high risk of recurrence. Herein, we studied the MMR staining pattern in TGCT and lymph node metastasis.

Methods
21 TGCT were included in the study: 10 primary testicular tumors and 11 unrelated retroperitoneal lymph node metastasis. All cases were analyzed for MMR protein expression by immunohistochemistry. Clinical, histopathological and follow-up was obtained in all cases. Retained MLH1, MSH2, MSH6, and PMS2 was defined as nuclear staining. Loss of expression was defined as absence of nuclear staining within tumor cells with retained expression in internal control cells, including benign testicular tissue, stromal cells, and infiltrating lymphocytes.

Results
All primary testicular tumors were mixed GCT: embryonal carcinomas was present in 5, yolk sac tumor in 3 and teratoma in 6 cases. One (10%) of the primary tumors showed focal loss of MLH1 and PMS2 expression in a focus of embryonal carcinoma. All lymph node metastases consisted of teratoma. Seven (64%) metastatic cases showed scattered areas of focal MLH1 loss, 5 (45%) of which showed also focal loss of PMS2. High staining for MSH2 and MSH6 was detected in all 21 cases.

Conclusion
In our small cohort, focal loss of MLH1 and PMS2 was detected in 10% of primary TGCT, compared to focal loss of MLH1 and PMS2 is 64% and 45%, respectively, of metastatic tumors, suggesting a possible relationship between heterogeneous MLH1 and PMS2 expression and retroperitoneal lymph node metastasis. The current cohort will be expanded to include additional cases.
Identification Of Strn-Ntrk2 Rearrangement In A High Grade Sarcoma, With Good Clinical Response To Firstline Larotrectinib Therapy
Authors: Lin R , Wang Z , Jiang W , Basu-Mallick A 
Published: October 2020

Abstract

Casestudy
Gene fusions involving tropomyosin receptor kinase genes, NTRK (NTRK1-3), are important in tumorigenesis. Larotrectinib, a selective NTRK inhibitor, is recently approved to treat NTRK fusion positive solid tumors. We herein report a case of soft tissue sarcoma harboring two STRN-NTRK2 gene fusions, with good clinical response to firstline larotrectinib treatment.

Results
A 35 year-old female presented with pain in the right gluteal region, and a large solid mass without overlying erythema, edema and induration was identified. Initial MRI study showed a heterogenous, vascular and partially necrotic mass (16.5 x 12.9 x 10.4 cm) centered in the right gluteus medius and maximus muscles. A core biopsy of the mass showed a cellular mesenchymal neoplasm with round/ovoid cells, high mitosis (21 per 10 HPFs) and focal staghorn type vessels, reminiscent of solitary fibrous tumor. However, STAT6 immunostaining was negative.
Additional immunostains show no specific lineage. Our in-house NGS fusion panel showed two in-frame STRN- NTRK2 fusions, containing the same 5’ partner sequence (exon 1-3) of STRN, with the 3’ fusion partner starting from either the exon 15 or the exon 16 of NTRK2. Due to the large size and location of the tumor, larotrectinib was initiated as firstline therapy. The patient noticed a quick amelioration of tumor related pain, and a significant shrinkage of the size of tumor following the initial 7-day treatment. On post-treatment day 52, MRI showed the tumor significantly decreased in size to 7.7 x 7.4 x 6.6 cm with satisfactory symptomatic relief.

Conclusion
NTRK2 fusions are relatively rare when compared with NTRK1 and NTRK3, especially in sarcoma. Of note, the only other report in the literature of NRTK2 fusion- positive sarcoma also showed SFT-like morphology, and the patient responded well to larotrectinib as second line therapy.
Unusual Death; Light Microscopy Solves The Mystery With An Archetypal Depiction Of An Unexpected Rare Cause
Authors: Ibrahim D , Gohara A 
Published: October 2020

Abstract
Casestudy: Hypertrophic cardiomyopathy is a heterogeneous disease with a number of phenotypes. We present the rarest phenotype, 1% of all cases, the midventricular obstructive type. It is characterized by hypertrophy in the mid portion of the left ventricle involving the papillary muscles, resulting in systolic intraluminal obstruction of the mid-ventricle. An unusual case of a 41-year-old male who died suddenly while hiking. He had no past medical history except for hyperlipidemia. He had no history of hypertension, with documented repeated normal blood pressures. No family history of cardiac problems, sudden death, or death at young age. On autopsy examination, his heart weighed 540 grams. The left ventricle was concentrically hypertrophied, 1.8 cm in thickness, with prominent papillary muscles and small lumen. The interventricular septum measured 1.8 cm in thickness, with increase sub-aortic wall thickness. Microscopic examination revealed myocyte hypertrophy with boxcar-like nuclear enlargement and interstitial fibrosis. There was myocardial fiber disarray. Intramural vessels showed dysplastic changes with medial thickening and narrowing of the lumen. Genetic cardiomyopathy panel testing on paraffin-embedded sections was negative; testing-on whole blood is preferred but body was embalmed before autopsy. The immediate cause of death was hypertrophic cardiomyopathy leading to pulmonary edema with potential complications as arrhythmias and low cardiac output. This case highlights the importance of light microscopy in the diagnostic process despite negative genetics. It also underscores the crucially of adopting better strategies to identify the disease since sudden death occurs frequently in those where diagnosis is missed during life.
Naegleria Fowleri Diagnosed with Hospital Autopsy in a Toddler: A Case Study
Authors: Palmer R F , Palavecino E , McLemore J L 
Published: October 2020

Abstract

Casestudy
Naegleria fowleri, an amoeba, is typically found in warm freshwater lakes, ponds, rivers and hot springs. It is responsible for causing the incredibly rare and lethal central nervous system infection called Primary Amoebic Meningoencephalitis (PAM). In the United States, 145 confirmed cases have been documented since 1962. Most cases are associated with freshwater lakes, ponds and reservoirs, while only a handful have been linked to artificial recreational venues such as pools, interactive water play-grounds, and spas. In addition to highlighting a rare amoebic disease, this case illustrates the continued importance of hospital autopsies especially given recent ruling to eliminate the autopsy requirement by the Centers for Medicare and Medicaid Services.

Results
An otherwise healthy toddler had upper respiratory symptoms and otitis media days after returning from an artificial recreational water venue, becoming increasingly lethargic and febrile over the next few days. At the hospital, cerebrospinal fluid (CSF) abnormalities were suggestive but not consistent with bacterial meningitis. A meningoencephalitis panel, a Computed Tomograph (CT) scan of the head, and chest-x-ray were negative for abnormalities. Appropriate antimicrobial therapy was initiated. Three days after hospital admission, his symptoms worsened including development of dysconjugate gaze and signs of cerebellitis. He became increasingly hemodynamically unstable, suffered an arrest, and passed away days later.

Conclusion
Since this death did not fall under the state’s statutes mandating medicolegal autopsy, a hospital- requested autopsy was performed. Cerebral edema and a light gray to light green exudate was along the inferior and lateral left temporal lobe, brain stem, and cerebellum. An exuberant lymphoplasmacytic infiltrate with scattered polymorphonuclear leukocytes expanded the meninges. Small histiocyte-like cells with distinct eccentric nuclei and granular, vacuolated cytoplasm, confirmed by Centers for Disease Control and Prevention (CDC) to be Naegleria fowleri, were best visualized in the Virchow-Robin spaces and deeper parenchyma.
The Pivotal Role Of Coconut Oil Or Liquid Paraffin As Antidote Effective In Reducing Acute Aluminum Phosphide Poisoning In Cardiogenic Shock
Authors: Fyala A S , Fathalla E , Aly S , Fathy A M , Bakhet M 
Published: October 2020

Abstract

Introduction/Objective
Aluminum phosphide (Alp) is a self-poisoning agent for raising the mortality rates in developing countries. Alp is known as “Rice-tablet” which is a cheap solid fumigant pesticide that is used for grain preservation which becomes a common mode of suicidal attempts in the rural community in Egypt. This study aims to identify the mechanism of salient features and management strategies were carried out on acute Alp-poisoned patients at Poison-Emergency-Unit, ElBehira-Hospitals. That was performed between Jan2018-Jun2019.

Methods
Patients were subjected to a full history evaluation of age, sex, Blood gases, and ECG, were demonstrated. Patients were grouped according to their outcome into survivors and non-survivors groups.

Results
The results demonstrated that (93%) of Alp-poisoning cases by oral-ingestion as suicidal attempts which were (54%) survived while (46%) non-survived. The blood-gases were showed that over 50% of the cases had metabolic acidosis with a highly-significant difference between survivors and non-survivors. PH and HCO3 values were significantly lower in non-survivors than those in the survivor group. Furthermore, SaO2 value was significantly higher in survivors than that of non-survivors. So the managing Alp-poisoning should be started for first 6hr since exposure. Treatment includes early gastric lavage with potassium-permanganate-(1:10,000), sodium-bicarbonate or coconut-oil/liquid-paraffin. The mechanism of Alp-poisoning explained that, phosphine gas inhibits 70% of mitochondrial cytochrome-c-oxidase in myocardial-tissue by the effect of free-radicals; electrolyte disturbance, and intracellular acidosis all cause a reduction in cardiac function, and multi-organ damage. These effects may cause arrhythmia and myocarditis which may be the cause of death.

Conclusion
It was concluded that myocardial depression with shock and metabolic acidosis may lead to respiratory failure due to acute Alp-poisoning. This case study reported that coconut oil play a pivotal role in managing acute Alp- poisoning even 6h post ingestion for reducing the oxidative outcomes of phosphine and recommended as antidote for acute Alp-intoxication.
An Unusual Case Of Pernio (Chilblains) With Underlying Cryoglobulinemia – Case Study
Authors: Kanteti A P , Sofronescu A 
Published: October 2020

Abstract

Introduction/Objective
Pernio or chilblains, is a rare condition associated with small pruritic swellings of the extremities triggered by low temperature. Generally, the patients experience a burning and itching sensation in the affected areas that increases with return to warm temperature. The underlying risk factors include autoimmune disorders and cryoglobulinemia. Herein we present an unusual and rare case of chilblains that evaded diagnosis for few years. The general concepts of analytical and clinical evaluations of this condition, with emphasis on accurate diagnosis of gammopathies, along with the importance of laboratory evaluations and accurate interpretation of laboratory results will be discussed.

Methods
Multiple laboratory investigations (CBC, electrolyte analysis, serum protein electrophoresis, free light chain analysis) were pursued together with skin biopsies. Additionally, CT scan under low radiation exposure and bone marrow biopsy were followed. Plasma sample viscosity at room temperature was evaluated.

Results
Skin biopsies from right anterior thigh and left arm revealed leucocytoclastic vasculitis with normal perivascular staining for C3 and fibrinogen. Serum sample at room temperature exhibited increased viscosity and protein electrophoresis identified a highly elevated IgG kappa monoclonal globulin peak whose concentration increased upon warming and dilution of the sample, suggesting that agglutinin precipitated at cold temperature (below body temperature). Analysis of free light chains revealed elevated concentration of kappa light chain whose concentration also increased upon warming the serum sample. Whole body CT scan and bone marrow biopsy analysis further identified lytic lesions. These investigations established the diagnosis of plasma cell myeloma (CD138 staining) with expression of monoclonal immunoglobulin precipitating at temperatures below that of the body.

Conclusion
Given the above findings this case of chilblains can be classified as cryoglobulinemia vasculitis. The importance of attention to details (e.g. characteristics of serum samples), accurate interpretation of laboratory findings and analysis clinical information are all very crucial to arrive at a differential diagnosis.