bluuebunny/crossref_metadata_2025_split huggingface dataset:
Frequency and factors associated with thyroid dysfunctions: An analytical cross-sectional study from a tertiary care center in Kabul, Afghanistan
Authors: Naeem M 
Published: October 2021

Abstract

Introduction/Objective
Endocrinopathies are a commonly occurring entity, particularly those of the thyroid gland, however there is lack of scientific literature from Afghanistan, a country with very limited health care facilities and resources. This is the first study aimed to describe the frequency of occurrence and factor associated with thyroid dysfunction in Afghan population. The aim of this study is to estimate the frequency and to identify factors associated with thyroid dysfunction among individuals coming to a tertiary care facility in Kabul, Afghanistan.

Methods/Case Report
A cross-sectional study was conducted from July to Sep 2018 at the Department of Clinical Pathology, French Medical Institute for Mothers and Children (FMIC), Kabul, Afghanistan. Blood samples were obtained, serum TSH levels were analyzed, and the patients were divided into three diagnostic categories according to their serum TSH concentrations: 1) Hypothyroidism 2) Hyperthyroidism 3) normal.

Results (if a Case Study enter NA)
A total of 127 individuals were included in the final analysis. Majority study participants (77%) were females. A large number of the participants (92%) did not have family history of thyroid dysfunction. (74%) participants in the study had normal TSH levels classified as normal thyroid function, (14%) had lower TSH levels and (12%) higher TSH levels (Table 1) classified as hyper and hypothyroid respectively.

Conclusion
The findings of the current study showed a high frequency of thyroid dysfunctions from a single center. Further large scale studies are needed to find out the prevalence and document this entity for better health outcomes in the country.
ARMC5-associated Bilateral Macronodular Adrenocortical Hyperplasia: A Novel Germline Variant Associated with Concomitant Papillary Thyroid Carcinoma and Meningioma
Authors: Strauss K , Smith S , Grover A 
Published: October 2021

Abstract

Introduction/Objective
Germline mutations in the tumor suppressor gene Armadillo-containing repeat protein 5 gene (ARMC5) have been very recently recognized as a cause for a familial form of bilateral macronodular adrenocortical hyperplasia (BMAH), itself a rare cause of Cushing syndrome. In patients with ARMC5 mutations, scattered case reports have also shown an association with meningiomas and cancers of the pancreas, breast, colon, and thyroid.

Methods/Case Report
We present the case of BMAH, arising in a 61-year-old female with a history of metastatic papillary thyroid carcinoma and meningioma. The patient presented with bilateral but asymmetric adrenal enlargement (right greater than left) and Cushing syndrome. Given history of thyroid cancer and meningioma, genetics referral was ordered. Counseling revealed a pedigree without a strongly evident familial pattern of hereditary endocrine neoplasia characteristic of any of the more common inherited dispositions to endocrine neoplasia. Additionally, a targeted capture-based NGS germline genetic sequencing study for variants in 12 genes associated with associated with hereditary thyroid cancer was performed and negative. However, based on recent scholarship regarding ARMC5, follow-up germline NGS and Sanger sequencing studies encompassing the entire coding sequences of ARMC5 were ordered. These identified a germline, heterozygous, novel (not in ClinVar) but likely pathogenic variant in (c.802C&gt;T, p.Arg268*), providing a likely explanation for the patient’s BMAH. In attempt to control the patient’s Cushing symptoms, right-sided adrenalectomy was performed, revealing a 220g adrenal gland with marked multinodular hyperplasia with solid, nested, and tubular architecture.

Results (if a Case Study enter NA)
NA

Conclusion
While case reports exist describing an association between other ARMC5 mutations and BMAH with concomitant meningiomas and/or malignancies, greater study is needed in order to better characterize the phenotypic spectrum of this disease. Our experience with this case not only reports a novel, apparently pathogenic mutation, but it documents its association with BMAH and, additionally, papillary thyroid carcinoma and meningioma.
Neuroendocrine tumors and Survival- a meta-analysis
Authors: Khayyat A , Asad M , Aslam A , Rabbani R , Fabara S , Chandramohan S , Unachukwu N , Nasyrlaeva B , Chowdary S , Hammoud G , Jaiswal R 
Published: October 2021

Abstract

Introduction/Objective
Neuroendocrine tumors (NET) are a rare group of epithelial neoplasm present in gastrointestinal tract (GI) (67.5%), bronchopulmonary tree (25.3-30%) and in 15% cases primary sites cannot be identified. Although endoscopic screening, improvement in pathological techniques and early detection have shown improvement in NET survival rates, the prognosis is very poor. In this study we aimed to evaluate the effect of Gastrointestinal pancreatic NETs (GEP NETs) grade on overall survival.

Methods/Case Report
We searched observational studies describing the overall survival or prognostic factors of primary GEP NETs from May 2011 -May 2021 following PRISMA guidelines. Studies describing the effect of primary grade 3 GEP NETs on overall survival were included. Meta-analysis was performed and pooled hazard ratio and their 95% confidence interval (95%CI) were obtained. The forest plots were created using random effects models and sensitivity analysis was performed to account for the heterogeneity.

Results (if a Case Study enter NA)
Seven studies with 7692 confirmed patients were included. In our meta-analysis grade 3 GEP NET were associated with higher odds of poor survival (pooled HR: 2.73; 95% CI: 1.36–5.47; p = 0.005), with 92% heterogeneity between studies (p &lt; 0.0001). To account for heterogeneity, sensitivity analysis was performed by removing two outlying studies (Fathi et al. and Foubert et al.) on funnel plots. The results after sensitivity analysis did not change and still showed significant association of grade 3 with poor survival (pooled HR: 4.53; 95% CI: 3.54–5.78; p &lt; 0.00001), with no heterogeneity between studies (p = 0.72; I2 = 0%).

Conclusion
Our meta-analysis found that grade 3 GEP NETs is associated with poor survival and additional future studies are needed to identify other risk factors associated with poor survival in GEP NETs to improve the mortality.
Submucosal Lipoma at the lead point of Small bowel Intussusception in an Adult
Authors: Kiran F , Asuzu I M , Noreen S 
Published: October 2021

Abstract

Introduction/Objective
Morbidity and mortality among adult patients presenting with acute abdominal pain are high, and these patients often require hospitalization with prompt surgical consultation Important differentials include small bowel obstruction from previous surgeries and hernias, acute mesenteric ischemia, and ruptured abdominal aortic aneurysm. Intussusception in adults is rare accounting for about 1% - 5% of small bowel obstructions and thus requiring a high index of suspicion for early detection. In most cases, the lead point is a benign mass, commonly a lipoma, but histopathologic examination of the resected segment is required to rule out malignancy.

Methods/Case Report
We present a case of a 50-year old male with a medical history of psoriasis and hypertension who was admitted on account of a 1-day history of sudden onset persistent abdominal pain with associated nausea non-bilious emesis. Physical examination reveals no fever and soft non-distended abdomen with diffuse tenderness. CT scan demonstrated long segment small bowel-small bowel intussusception with markedly edematous and dilated bowel, compatible with obstruction. The lead-point was suspected to be a 3.9cm lipoma. Segmental resection and primary re-anastomosis were performed. Gross examination revealed a 13cm segment of bowel telescoping into a distal segment with a lead-point demonstrating mucosal congestion and submucosal thickening corresponding to a well-circumscribed 3.5cm tan yellow soft lobulated mass with yellow cut surface. Histopathology was consistent with lipoma. The patient made an uneventful postoperative recovery.

Results (if a Case Study enter NA)
N/A

Conclusion
Intussusception should be kept in the differential diagnosis of adults presenting with sudden onset abdominal pain and pathologic examination of the resected segment is necessary to rule out malignancy.
Histologic features in an autoimmune gastritis patient with hypergastrinemia: Call for a grading system for G cell hyperplasia
Authors: Zia S Q , Chhetri Aryal S , Jaratli H , Wang Z 
Published: October 2021

Abstract

Introduction/Objective
Autoimmune gastritis (AG) is characterized by oxyntic glands destruction, metaplasia, enterochromaffin-like endocrine cell abnormality and G-cell hyperplasia with hypergastrinemia. The gastrin level can be extraordinarily high in certain cases to justify suspicion of Zollinger-Ellison syndrome. We herein report one such case and discuss clinical implication of a grading system for G-cell hyperplasia to correlate histology with gastrin levels.

Methods/Case Report
The patient was a symptomatic 65 year-old female with hypergastrinemia (2,068 pg/mL), negative abdomen/pelvis CT scan, positive anti-intrinsic factor and anti-parietal cell antibodies. Under esophagogastroduodenoscopy, biopsies were obtained from gastric cardia, fundus, corpus, incisura angularis, and antrum. Morphology and immunostains confirmed autoimmune gastritis. Diffuse linear pattern G-cell hyperplasia was evident in antrum and incisura angularis, counting up to 200 G-cells per linear millimeter. One study defined G-cell hyperplasia as &gt;140 gastrin-positive cells per linear millimeter while another proposed a 2-tier stratification, i.e., simple hyperplasia (4-5 cells for each gland) and linear hyperplasia (continuous chain-like distribution of G-cells). Such scoring, however, was largely qualitative and fell short in delineating the extent of G-cell hyperplasia and correlation with gastrinemia.

Results (if a Case Study enter NA)
NA

Conclusion
Lack of G-cell grading system hindered our unequivocal determination of the G-cell hyperplasia as underlying or contributing cause of hypergastrenemia. The unique features of our case highlighted the necessity for installing a practical grading system that incorporates G-cell density, pattern (linear vs. nodular), extent of involved areas, other features of AG to correspond to gastrin level. With accumulation of clinical information, one such grading system is feasible and will improve our knowledge and patient care.
Rapid Progression of Non-Alcoholic Fatty Liver Disease into Cirrhotic Liver in Trisomy 21 Patient: A Case Report and Brief Literature Review
Authors: Sonani H , Srivastava A C , Varshney N 
Published: October 2021

Abstract

Introduction/Objective
Trisomy 21 (Down syndrome) is the most common chromosomal disorder. Among trisomy 21 patients in the pediatric setting, obesity is one of the most common conditions, with prevalence ranging from 23% to 70%. Trisomy 21 has several risk factors for obesity, including increased unfavorable dietary patterns, lower levels of physical activity, and other comorbidities. Epidemiologic studies found this increase in pediatric obesity along with an increased prevalence of non-alcoholic fatty liver disease (NAFLD). Furthermore, children with trisomy 21 have a higher prevalence of NAFLD than children without trisomy 21, even in the absence of obesity. As per literature, NAFLD is present in 64.3 percent of patients with Trisomy 21.

Methods/Case Report
We present a case of a 17-year-old female with trisomy 21 who was diagnosed with B-cell acute lymphoblastic leukemia (B-ALL) after being admitted due to abdominal pain and decreased appetite. The patient was found to have elevated liver enzymes with abnormal ultrasonography findings. MR images showed fatty liver infiltration with a hepatic fat fraction of 47%. Subsequently, a percutaneous liver biopsy was obtained. Microscopic examination showed minimal hepatic parenchyma with collapsed architecture replaced by abundant steatosis (approximately 90%). Portal triads showed mild lymphocytic inflammation and presence of neutrophils. No fibrosis was confirmed with the trichrome stain. She was then enrolled on AALL1731, a clinical trial for a therapy to treat B-ALL. A 4-month follow-up MR image showed hepatic steatosis. After 9 months, liver biopsy revealed cirrhotic liver along with portal lymphoplasmacytic inflammation, bile duct proliferation and mild macro vesicular steatosis.

Results (if a Case Study enter NA)
NA

Conclusion
This case report signifies the importance of histological evaluation of liver abnormalities to provide better treatment. It is vital to schedule close follow-ups in Trisomy 21 patient polpulation, because NAFLD can transform rapidly into a completely cirrhotic liver escpecially with acute lymphoblastic leukemia on chemotherapy. We also emphasizes early lifestyle modifications, including weight loss and proper diet.
Agreement and Intraobserver Variability in Detection of Helicobacter pylori Infection Using Routine Histology, H. pylori Immunohistochemical Stain, and Warthin-Starry Special Stain on Gastric Tissue Biopsy Samples
Authors: Oyedeji O S , Rodgers S , Zia S Q , Ormsby A 
Published: October 2021

Abstract

Introduction/Objective
Helicobacter pylori (HP) is a prevalent cause of gastritis in the US and worldwide. Accurate detection of the organism is important for appropriate treatment. Diagnosis is made using immunohistochemistry and special stains including Warthin-Starry stain (WS) which is low cost, technically easy to perform on tissue sections, and can be automated. We aimed to assess interobserver variability, reproducibility and validity of hematoxylin and eosin stain (H&E), WS and anti-Helicobacter pylori immunohistochemical staining (HP-IHC) for the histopathological identification and evaluation of HP organisms on gastric mucosa biopsies.

Methods/Case Report
We prospectively evaluated gastric biopsies from ten adult patients. These patients underwent upper gastrointestinal endoscopy with subsequent biopsy for various abdominal complaints. Seven of the ten biopsies (7/10) were HP infection positive, and three cases (3/10) were HP negative by H&E stain and HP-IHC (determined by GI Pathologist). The presence or absence and density of HP, were assessed on H&E, HP-IHC and WS in blinded fashion by five general surgical (GS) pathologists. The GS pathologists assessed the cases for presence and density of HP using the semi-quantitative modified Sydney classification (none, mild, moderate, and severe). Percentage agreement and interobserver variablilty using Cohen-Kappas statistics (KS) were calculated.

Results (if a Case Study enter NA)
The percentage agreement for presence or absence of HP in the biopsies with H&E, HP-IHC and WS stains were 91%, 98% and 99%, respectively. The interobserver agreement for evaluation of presence of HP was excellent with WS staining method (Overall KS = 0.737 95%, Confidence Interval (CI) = 0.501- 0.973) and HP-IHC (Overall KS = 0.783, 95% CI = 0.585-0.980). Agreement for H&E was moderate (Overall KS = 0.532, 95% CI= 0.392-0.672). HP density agreement was excellent using WS and HP-IHC and H&E was in the moderate range.

Conclusion
This study found excellent interobserver agreement using IHC and WS. While IHC is the most specific stain, WS is more sensitive in identifying the shape and morphology of HP organisms and is an efficient and low-cost alternative with excellent morphology in general surgical practice.
A Rare Case of Rectal Mixed Adeno-Neuroendocrine Carcinoma (MANEC) with Liver Metastasis
Authors: Akkad Wattar M , Tarakji R , Bibars W 
Published: October 2021

Abstract

Introduction/Objective
Mixed Adeno-Neuroendocrine Carcinoma (MANEC) is a rare subtype of colorectal cancer which was recognized and described by the world health organization (WHO) in 2010. It was defined as malignant neoplasms in which each component represents at least 30% of the lesion. In this abstract, we present a case of mixed adeno-neuroendocine carcinoma of the rectum with metastasis of the neuroendocrine component to the liver. We discuss the histomorphological and immunohistochemical features of this tumor.

Methods/Case Report
A 64-year-old male presented with abdominal pain in the right upper quadrant area. An abdominal CT scan showed multiple nodules in the liver as well as a mass lesion in the rectum. Liver needle core biopsy revealed infiltrating nests of atypical cells with marked pleomorphism, a variable amount of cytoplasm, and prominent nucleoli. Mitotic activity and necrosis were seen. By immunohistochemical staining, the tumor cells were negative for CK7 and CK20, positive for CD56, and partially positive for CDX2. Although glands formation was not seen; however, given the positivity of CDX2 as well as the colonic mass, mismatch protein analysis (MMR) was performed and it was intact. These findings were consistent with poorly differentiated high-grade neuroendocrine carcinoma. The rectal mass was excised through colonoscopy and revealed invasive carcinoma with morphology similar to that of the liver biopsy in addition to a vague glandular differentiation. Tubulovillous adenoma was also seen. On immunohistochemical staining, the invasive component was positive for CD56, synaptophysin, and chromogranin A, partially positive for CDX2, and negative for CK20, consistent with the neuroendocrine component. The adenoma was positive for CK20, and CDX2, and negative for CD56. Rare positivity was seen by synaptophysin and chromogranin A. The carcinoma and the adenoma were both positive for P53. The neuroendocrine carcinoma comprised 40-50% of the tumor.

Results (if a Case Study enter NA)
NA

Conclusion
Only a few cases of Mixed Adeno-Neuroendocrine Carcinoma (MANEC) were reported. We add a new case with liver metastasis. The systematic application of immunohistochemical studies aided in the recognition of each component of the neoplasm.
Pancreatic Carcinosarcoma with a Rare Presentation
Authors: Khan J , Guo S 
Published: October 2021

Abstract

Introduction/Objective
Carcino-sarcoma of the pancreas is a rare tumor and very limited clinical and pathologic data have been reported in the literature. As per World Health Organization (WHO) classification of tumors of the digestive system, the carcinosarcoma of the pancreas is classified together with sarcomatoid carcinoma and anaplastic giant cell carcinomas in undifferentiated carcinoma of pancreas. Carcinosarcoma is a rare entity with very poor prognosis.

Methods/Case Report
Here we report a rare case of pancreatic carcinosarcoma in a 68 year old male patient who underwent a pancreatoduodenectomy for unilocular cystic mass in the head of the pancreas. The mass grossly replaces the whole head of the pancreas. Histologically, the lesion showed a high-grade spindle cell component and adjacent moderately differentiated adenocarcinoma. On immunohistochemical examination, the carcinomatous component was positive for epithelial markers, and the sarcomatous component was positive for DOG1 and had a focal cytoplasmic staining for S-100. The diagnosis of pancreatic carcinosarcoma was rendered. Treatment options are same as of pancreatic carcinoma. Surgical resection is the best option available for patients. Systemic chemotherapy is indicated for patients with distant metastasis or patients with other contraindications. Despite surgery and adjuvant chemotherapy, recurrence rates are high, and prognosis is poor. However, there are no relevant standard chemotherapies available. Based on the limited number of reported cases, the prognosis of carcinosarcoma of the pancreas appears to be poor. But some cases with long term survival have been reported. There are very few primary pancreatic neoplasms with carcinomatous and sarcomatous components reported in the current literature.

Results (if a Case Study enter NA)
NA

Conclusion
This case highlights the importance of familiarity with histopathology of this rare entity, and to order proper immunohistochemical and molecular work-up when there is a suspicious abnormal spindle cell component.
Malignant Gastrointestinal Neuroectodermal Tumor: a case report and a review of the literature
Authors: Youssef B , Asberry D , Mohamed R 
Published: October 2021

Abstract

Introduction/Objective
Malignant gastrointestinal neuroectodermal tumor (GNET) is a rare soft tissue tumor arising in the wall of the gastrointestinal tract. The GNET was first described as an osteoclast rich tumor of the gastrointestinal tract with features resembling clear cell sarcoma, with only few cases reported in the literature.

Methods/Case Report
We report a case of a 71-year-old man with a past medical history of hypertension, hyperlipidemia, and benign prostatic hyperplasia presented with complaints of dyspnea, dizziness, fatigue, black stools, and a recent syncopal episode. Laboratory testing revealed anemia (HB 5.4 g/dL). Esophagogastroduodenoscopy demonstrated a submucosal gastric mass. An abdominal CT scan confirmed a 7.8 cm mass along the gastric cardia and fundus.

Results (if a Case Study enter NA)
Biopsy rendered a gastrointestinal neuroectodermal tumor (GNET). Microscopically, the tumor cells were spindle with eosinophilic cytoplasm and arranged in fascicules. They were positive for CD56, CD99, and Fli-1, synaptophysin, and negative for chromogranin, TTF-1, SMA, desmin, CD34, EMA, pan-cytokeratin, and lymphoid markers. Two months later, further imaging confirmed metastasis to the liver and spleen. GNETs typically arise within the muscularis propria of the gastrointestinal tract and often extend into the submucosa and subserosa.

Conclusion
The most important differential of GNET is the clear cell sarcoma of the gastrointestinal tract (CCS-GI). Both share similar morphological as well as molecular features and show S100 positivity; however, the lack of melanocytic differentiation in GNET distinguishes it from CCS-GI. Both typically show rearrangements of the EWSR1 gene, with t(12;22) (q13;q12) EWSR1-ATF1 or t(2;22)(q34;q12) EWSR1-CREB1 fusions. Pathologists should be aware of GNET diagnostic entity due to its aggressive behavior and high rate of recurrence and mortality even after complete resection.