OpenMed/multicare-articles huggingface dataset:
Spontaneous clearance of chronic hepatitis C is rare in HIV-infected patients after effective use of combination antiretroviral therapy
Authors: Mario Frias, Antonio Rivero-Juarez, Francisco Tellez, Monserrat Perez-Perez, Angela Camacho, Isabel Machuca, Sandra Lorenzo-Moncada, Pedro Lopez-Lopez, Antonio Rivero, Grupo de Estudio de Hepatitis Virales (HEPAVIR) of the Sociedad Andaluza de Enfermedades Infecciosas (SAEI)
Journal: PLoS One (2017)
MeSH terms: Anti-HIV Agents / therapeutic use, HIV Infections / drug therapy, Hepatitis C, Chronic / drug therapy, Case Reports, Adult, Anti-HIV Agents / administration & dosage, Female, HIV Infections / complications, Hepatitis C, Chronic / complications, Humans, Male, Remission Induction, Retrospective Studies, Young Adult, Anti-HIV Agents

Objective:
To evaluate the rate of spontaneous resolution of chronic hepatitis C (CHC) infection in a cohort of HIV-infected patients.
Methods:
A retrospective analysis of 509 HIV-infected patients with chronic HCV infection was performed at two reference hospitals in Andalusia. The main variable of the study was spontaneous clearance of CHC, defined as a negative HCV RNA result after at least two previous quantitative measurements of HCV RNA separated by a minimum of 12 months.
Results:
Of 509 patients, 3 (0.59%; 95% CI: 0.15%-1.6%) experienced spontaneous clearance of CHC. After combination antiretroviral therapy (cART) initiation, two of three cases experienced an increased CD4+ count, coinciding with HCV viral clearance. All patients were IL28B CC carriers, 2 were co-infected with HCV genotype 3 (the HCV genotype of the remaining patient was not available).
Conclusions:
Spontaneous clearance of CHC is a rare event in the context of HIV/HCV co-infected patients and may be associated with the effective use of cART and thus HIV suppression.
Hyperplastic dental follicle: a case report and literature review
Authors: Ligia Buloto Schmitd, Diego Maurício Bravo-Calderón, Cleverson Teixeira Soares, Denise Tostes Oliveira
Journal: Case Rep Dent (2014)

Hyperplastic dental follicle is an odontogenic hamartomatous lesion associated with delayed or tooth eruption failure in young patients. The occurrence of this pericoronal dental lesion may be single or multiple and it seems to be more frequent than literature has reported. We present a literature review focusing on the etiopathogenesis and clinicopathological features of this hamartomatous lesion in young patients. In addition, we reported a case of hyperplastic dental follicle causing delayed tooth eruption of 14-year-old male patient. Microscopic analyses based on routine staining and immunohistochemistry were used to discuss the cells found in pericoronal follicle. This paper reinforces the importance of association between clinical history and radiographic features with microscopic pericoronal follicle examination for diagnosis of this hamartomatous lesion.
Is Testicular Torsion a Real Problem in Pediatric Patients With Cryptorchidism?
Authors: Marta Diana Komarowska, Alicja Pawelczyk, Ewa Matuszczak, Wojciech Dębek, Adam Hermanowicz
Journal: Front Pediatr (2021)
Keywords: boys, cryptorchid testes, pediatric population, testicular torsion, undescended testis

Purpose: To present management and outcomes of patients with cryptorchidism suffering from testicular torsion. Methods: This is a retrospective review of pediatric patients with torsion of undescended testes, who were treated between 2009 and 2019. We recorded: the age, symptoms, duration of torsion, results of physical examination, surgery findings, and additional treatment. Additionally, an extensive online literature search, from 2015-2020, was performed to identify other similar case series. Results: We identified 9 boys with torsion of the undescended gonad, which represented 4.7% of all 192 boys with testicular torsion. The mean age of boys with torsion of undescended testis was 8.7 years. The mean duration of symptoms in our study group was long and it was up to 28.5 h. All patients had inguinal canal exploration. In eight cases, testicular necrosis and primary orchidectomy was performed. Furthermore, 45 cases were identified in the literature and reviewed. Conclusion: According to clinical experience and available studies, torsion of male undescended gonads is a comparatively rare condition. Nevertheless, diagnosis is still delayed and connected with inevitable orchidectomy.
Endobronchial lipomatous hamartoma: an incidental finding in a patient with atrial fibrillation-a case report
Authors: Friederike Schneider, Hauke Winter, Florian Schwarz, Manuel Niederhagen, Vivian Arias-Herrera, Eimo Martens, Stefan Kääb, Hans Theiss
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Introduction. Lung hamartomas are the most common benign tumors of the lung. Typically, they are located in the peripheral lung, while an endobronchial localisation is rare. Case Presentation. We present a case with the rare diagnosis of an endobronchial hamartoma as incidental finding in a 69-year-old male, caucasian patient with atrial fibrillation. At first admission, the patient's exertional dyspnea was caused by atrial fibrillation. Relapse of exertional dyspnea in the absence of arrhythmia was due to postobstructive pneumonia caused by an endobronchial hamartoma. Conclusion. Endobronchial tumors such as endobronchial lipoma or hamartoma should be considered as potential causes of exertional dyspnea and thus as differential diagnosis of atrial fibrillation. Although endobronchial hamartomas are benign, resection is recommended to prevent postobstructive lung damage.
Lingual Osseous Choristoma of the Tongue Base: Unusual Presentation of a Rare Entity
Authors: Matthew J Heinz, Scott M Peters, Salvatore M Caruana, Angela J Yoon
Journal: Case Rep Otolaryngol (2017)
MeSH terms: Case Reports

Osseous lesions of the tongue, also referred to as osseous choristomas, are benign growths of bony tissue. These lesions are not true neoplasms but rather represent growth of normal tissue at an abnormal location. Clinically, they appear as exophytic masses of the tongue, and they are treated by surgical excision. Lingual osseous choristomas are rare entities, with only 71 reported cases in the literature. We present the case of a lingual osseous choristoma of the tongue base in a 21-year-old female. Of the cases of lingual osseous choristoma reported in the literature, ours is only the fifth case to involve this location.
Interceptive Correction of Anterior Crossbite Using Short-Span Wire-Fixed Orthodontic Appliance: A Report of Three Cases
Authors: S Nagarajan M P Sockalingam, Khairil Aznan Mohamed Khan, Elavarasi Kuppusamy
Journal: Case Rep Dent (2018)
MeSH terms: Case Reports

Anterior crossbite is relatively a common presentation in the mixed dentition stage. If left untreated, it can lead to a host of problems and may complicate future orthodontic treatment. One of the major difficulties in performing anterior crossbite correction in young children is treatment compliance. In most cases, poor compliance is due to the unacceptability of the removable appliance used. This article describes three cases of successful correction of anterior crossbite of patients in mixed dentition using short-span wire-fixed orthodontic appliances. This sectional appliance provides an alternative method of correcting anterior crossbite of dental origin and offers many advantages compared to the use of removable appliances.
A Fatal Case of Concurrent Disseminated Tuberculosis, Pneumocystis Pneumonia, and Bacterial Septic Shock in a Patient with Rheumatoid Arthritis Receiving Methotrexate, Glucocorticoid, and Tocilizumab: An Autopsy Report
Authors: Shin-Ichiro Ohmura, Ryuhei Ishihara, Ayaka Mitsui, Yoshiro Otsuki, Toshiaki Miyamoto
Journal: Case Rep Rheumatol (2021)
MeSH terms: Case Reports

Recently, treatment for rheumatoid arthritis has dramatically improved but increases the risk of bacterial and opportunistic infections. Herein, we report a fatal case of concurrent disseminated tuberculosis, pneumocystis pneumonia, and septic shock due to pyelonephritis caused by extended-spectrum β-lactamase-producing Escherichia coli in a patient with rheumatoid arthritis who received methotrexate, glucocorticoid, and tocilizumab. Despite undergoing intensive treatment, the patient developed respiratory failure and died after 7 days of admission. An autopsy indicated that pulmonary tuberculosis were the ultimate causes of death, while pyelonephritis was controlled.
Primary aortic intimal sarcoma masquerading as intramural hematoma
Authors: Xiaodong Fan, Xiaofeng Chen, Zhiqi Yang, Tianhui Zhang, Yuting Liao, Weixiong Fan, Xiangguang Chen
Journal: Open Med (Wars) (2021)
Keywords: intimal sarcoma, intramural hematoma, thoracic aorta
MeSH terms: Case Reports

Primary aortic intimal sarcoma is a very rare disease and most patients present with features similar to those of atherosclerotic plaque and thrombus; however, primary aortic intimal sarcoma presents with features similar to those of intramural hematoma (IMH) on CT imaging and clinical presentation had never been previously reported. Here we report a case involving a 49-year-old woman with primary aortic intimal sarcoma masquerading as IMH on radiological images and clinical presentation. We also discuss some of the diagnostic pitfalls and hope that these diagnostic pitfalls will be very useful for clinicians.
Successful surgical resection for peritoneal implantation of hepatocellular carcinoma at the paracardial portion
Authors: Yuichi Sanada, Shinji Osada, Yasuharu Tokuyama, Yoshihiro Tanaka, Takao Takahashi, Kazuya Yamaguchi, Kazuhiro Yoshida
Journal: J Oncol (2009)
MeSH terms: Case Reports

Peritoneal implantation from hepatocellular carcinoma has been rarely reported. It may occur at various sites. Here we present a surgically resected case of peritoneal implantation to the diaphragm from hepatocellular carcinoma. A 50-year-old woman underwent right hemihepatectomy extended to a medial part of Couinaud segment IV for hepatocellular carcinoma in May 2000. In December 2008, the elevation of alpha-phetoprotein and the appearance of a heterogeneously enhanced mass, with dimensions of 9 x 7 cm, and adjacent to the remnant liver and pericardium suggested intrahepatic recurrence with markedly enhanced growth. After transcatheter arterial embolization, surgical resection under laparotomy combined with median sternotomy was selected. Samples of pericardial fluid showed no malignancy after cytological examination. At the superior border of the tumor, the confluence of pericardium and diaphragm was displaced, but the tumor itself showed a generally expanding but not invasive growth. The resected tumor showed moderately differentiated hepatocellular carcinoma whose pathology revealed a peritoneal implantation to the diaphragm. The patient is in good health without any postoperative complications or any further sign of recurrence.
Lithophagia as a clue for celiac disease: a case report and literature review
Authors: Mosayeb Shahryar, Iraj Shahramian, Seyed Mohsen Dehghani, NoorMohammad Noori, Maryam Ataollahi
Journal: Gastroenterol Hepatol Bed Bench (2017)
Keywords: celiac disease, iron deficiency anemia, lithophagia, pica
MeSH terms: Case Reports

Lithophagia is a type of pica that might be resulted from Iron Deficiency Anemia (IDA) which is the frequent presenting signs of Celiac Disease (CD). A 5-year-old child with a two year history of the lithophagia with a, refractory IDA, abdominal distention and constipation. The child did not grow well and had failure to thrive. With suspicion to CD, TTg IgA level was measured and due to an incearse of TTg IgA level the patients were undergone esophagogastrodeudonoscpy and jejunal biopsy. The biopsy showed severe villous atrophy and an increase in limphoplasma cells. Biopsy confirmed diagnosis of CD and glutten free diet was initiated finally. Six months after diagnosis and commencing the gluten free diet, the lithophagia and constipation in patient eradicated completely. IDA and failure to thrive were improved and the level of TTg IgA was reached to the normal. The case demonstrated the relationship between lithophagia and CD in anemia. Therefore, in the same cases such as our case should be considered CD as the most important causes of lithophagia.
Findings in percutaneous cholangiography in two cases of Type III cystic biliary atresia (with ultrasound correlation)
Authors: Dimitri Parra, Annie Fecteau, Alan Daneman
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Cystic biliary atresia (Type III) is uncommon and it may be difficult to differentiate this from a choledochal cyst, an entity that has a very different management and prognosis. This report shows the percutaneous cholangiographic findings in two cases of Type III biliary atresia with a non-communicating cyst, with ultrasound and clinical correlation. These findings are helpful in the diagnosis and management of patients with this condition.
Desmoplastic small round cell tumor: a case report and review of the literature
Authors: Xiang Li, Jing Yu, Shibao Fang, Xiaoming Xing, Jie Zhao
Journal: World J Surg Oncol (2014)
MeSH terms: Abdominal Neoplasms / pathology, Biomarkers, Tumor / metabolism, Desmoplastic Small Round Cell Tumor / pathology, Case Reports, Review, Abdominal Neoplasms / metabolism, Adolescent, Desmoplastic Small Round Cell Tumor / metabolism, Humans, Immunoenzyme Techniques, Male, Prognosis, Biomarkers, Tumor

Desmoplastic small round cell tumor is a rare malignant tumor that has a poor prognosis. It affects predominantly young males. In the current report, a 14-year-old male patient was admitted to the hospital for evaluation of abdominal distension, and abdominal pain. Imaging examination revealed a high prevalence of multiple intraperitoneal and liver parenchymal cystic and solid tumors. After an explorative surgery, the pathological findings confirmed the presentation of desmoplastic small round cell tumor. Diagnosis of desmoplastic small round cell tumor could easily have been overlooked since there was no specific evidence for this condition available in the clinical and imaging examinations. In the present study, ultrasound examination detected solid cystic masses, which suggested the presence of necrosis and hemorrhage. Immunohistochemistry and cytogenetic studies confirmed the diagnosis of desmoplastic small round cell tumor in this patient.
Severe Ovarian Hyperstimulation Syndrome in a Woman With Breast Cancer Under Letrozole Triggered With GnRH Agonist: A Case Report and Review of the Literature
Authors: Giuseppe Gabriele Iorio, Marika Ylenia Rovetto, Alessandro Conforti, Luigi Carbone, Roberta Vallone, Federica Cariati, Francesca Bagnulo, Raffaella Di Girolamo, Antonio La Marca, Carlo Alviggi
Journal: Front Reprod Health (2021)
Keywords: gnrh agonist, ohss, breast cancer, fertility preservation, ovulation induction, vascular endothelial growth factor
MeSH terms: Case Reports

We report a rare case of ovarian hyperstimulation syndrome (OHSS) in a 28-year-old woman with breast cancer and with a history of polycystic ovary syndrome (PCOS) despite treatment with letrozole and gonadotropin-releasing hormone agonist (GnRH-a) triggering in a GnRH antagonist (GnRH-ant) protocol without the administration of any human chorionic gonadotropin (hCG) for luteal-phase support. The patient, who underwent controlled ovarian syndrome (COS)-oocyte cryopreservation before chemotherapy, required hospitalization. Complete recovery was achieved after treatment with volume expanders, human albumin, and cabergoline. Based on our case and literature review, it is possible to establish that estradiol (E2) modulation with letrozole and GnRH-a triggering does not eliminate the risk of OHSS. Furthermore, it is advisable to postpone GnRH-a depot to minimize the risk of OHSS after the suspension of letrozole, following menstruation or at least 7-8 days after triggering. It would be desirable to identify high-risk patients, also on a genetic basis, in order to avoid delays in oncologic treatments that could strongly impact life expectancy.
Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series
Authors: Li Kang, Yixuan Ma, Peng Zhao
Journal: Transl Neurosci (2023)
Keywords: cohen syndrome, vps13b gene, mutation
MeSH terms: Case Reports

Background:
Cohen syndrome (OMIM No. # 216550) is a rare autosomal recessive disorder caused by homozygous mutation in the vacuolar protein sorting 13 homolog B (VPS13B) gene on chromosome 8q22.2. Clinical manifestations include hypermobile joints, microcephaly, intellectual disabilities, craniofacial and limb anomalies, and neutropenia. To date, more than 200 mutations of VPS13B have been reported in over 1,000 Cohen syndrome patients. This article reviews the clinical data of two cases of Cohen syndrome diagnosed by whole exome sequencing.
Results:
Both children visited for psychomotor retardation. Gene detection showed a mutation in 8q22.2, NM_017890.4 Intron38 c.6940+1G > T and heterozygotic deletion of exon 3-19 of the VPS13B gene (Case 1), and a mutation in 8q22.2, NM_017890.4 Intron38 c.6940+1G > T and 8q22, NM_017890.4 Exon56 c10334_10335del in the VPS13B gene (Case 2). The variation was predicted to be pathogenic by related software, and they have not been reported.
Conclusion:
Cohen syndrome should be considered in the differential diagnosis of any child with developmental retardation and neutropenia. The present study increases the mutation spectrum of the VPS13B gene and could be helpful in genetic diagnosis and genetic counseling in Cohen syndrome patients.
High-Amplitude Gastric Contractions following Laparoscopic Sleeve Gastrectomy
Authors: Jerry Zhou, Carolyn Jameson, Vincent Ho
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

A proportion of laparoscopic sleeve gastrectomy patients experience symptoms of regurgitation and epigastric pain postoperation. The appearance of gastric sleeve contractions has been documented but its implications have not been adequately investigated. This case describes a 61-year-old female following laparoscopic sleeve gastrectomy. The patient underwent high-resolution impedance esophageal manometry that identified compartmentalized pressurization leading to propagating contractions throughout the gastric sleeve. Combined treatment with calcium channel blockers and gastric sleeve dilation relieved all symptoms. This case highlights the application of high-resolution impedance esophageal manometry to assess motor function and bolus transit in patients following laparoscopic sleeve gastrectomy.
Coexistence of Multiple Endocrine Neoplasia Type 2B and Chilaiditi Sign: A Case Report
Authors: Deniz Cetin, Mustafa Unübol, Aykut Soyder, Engin Güney, Adil Coşkun, Serdar Ozbaş, Alparslan Unsal, Muhan Erkuş
Journal: Case Rep Endocrinol (2012)

We present a 15-year-old female patient with medullary thyroid carcinoma, marfanoid habitus, and mucosal ganglioneuromatosis. Our case had a RET protooncogene mutation ser836 polymorphism in exon 14 and ser904 polymorphism in exon 15. Our patient is thought to be atypical MEN2B due to the absence of M918T or A883F mutations. Chilaiditi sign is an incidental radiographic finding of a usually asymptomatic condition in which a part of intestine is located between the liver and diaphragm; however, the term "Chilaiditi syndrome" is used for symptomatic hepatodiaphragmatic interposition. The patient had no symptoms as abdominal pain, constipation, diarrhea, or emesis. Incidentally, Chilaiditi sign was diagnosed with chest radiograph and thoracoabdominal CT. Our case is the first in the literature indicating the coexistence of Chilaiditi sign and MEN2B.
Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia
Authors: Guilan Xie, Yan Zhang, Wenfang Yang, Liren Yang, Ruiqi Wang, Mengmeng Xu, Landi Sun, Boxing Zhang, Xiaoyi Cui
Journal: Front Genet (2022)
Keywords: cask gene, cerebellar hypoplasia, intellectual disability, microcephaly, whole exome sequencing
MeSH terms: Case Reports

Objective: Microcephaly with pontine and cerebellar hypoplasia (MICPCH) is a rare X-linked dominant genetic disease, and most MICPCHs are ascribed to CASK mutations, while few are revealed in Chinese patients. This study aims to identify the pathogenic mutation in a Chinese proband with MICPCH. Methods: A 3-year-old female Chinese proband with MICPCH and her parents were included. Clinical data were collected from the medical records and recalled by the proband's mother. Whole genome sequencing and Sanger sequencing were used to find the pathogenic mutation of MICPCH. Results: The proband presented with postnatal progressive microcephaly, cerebellar hypoplasia, intellectual disability, motor and language development retardation and limb hypertonia. Genetic analysis indicated that there was a novel compound heterozygote nonsynonymous mutation, c.755T>C(p.Leu252Pro) in exon8 of CASK gene in the proband, but not in her parents. This CASK mutation has not been reported in other databases. Conclusion: This study broadens the mutation spectrum of the CASK gene and is of great value for precise prenatal diagnosis and genetic counseling.
Case Report: Significant Response to the Combination of Lenvatinib and Immune Checkpoint Inhibitor in a Patient With Heavily Pretreated Metastatic Triple Negative Breast Cancer
Authors: Jin Sun Lee, Susan E Yost, Yuan Yuan
Journal: Front Oncol (2021)
Keywords: immune checkpoint inhibitors, lenvatinib, pembrolizumab, personalized treatment, triple negative breast cancer
MeSH terms: Case Reports

Background:
Triple negative breast cancer (TNBC) has poor prognosis without targetable mutations. The combination of lenvatinib and pembrolizumab has shown clinical activity in different types of solid tumors.
Case presentation:
We report a case of one patient with metastatic TNBC who has been heavily pretreated. The patient had been treated with multiple lines (≥ 8 lines) of chemotherapy without durable clinical responses. Her tumor regressed significantly under the combination of lenvatinib and immune checkpoint inhibitor, and remains stable for 10 months.
Conclusions:
The combination of lenvatinib and immune checkpoint inhibitor may have significant clinical activity in selective patients with heavily pretreated metastatic TNBC.
'I stand corrected'
Authors: Sumer N Shikhare, Poh Lye Paul See, Niraj Dubey
Journal: BJR Case Rep (2015)
MeSH terms: Case Reports

Fibular hemimelia is a rare congenital disorder with partial or complete absence of the fibula. It is usually associated with other osseous and soft tissue abnormalities of the knee joint and lower limb. Here we report an interesting case of fibular hemimelia diagnosed incidentally with characteristic radiographic and magnetic resonance imaging MRI findings in the knee joint and lower limb. The radiologists need to be aware of the typical features and associations of fibular hemimelia so as to be able to guide further orthopaedic management in these patients.
Variant Biliary Anatomy in Biological Siblings
Authors: Murali Dharan, Eric Vecchio
Journal: Cureus (2023)
Keywords: aberrant, bile, duct, familial, posterior, right
MeSH terms: Case Reports

Laparoscopic cholecystectomy is the standard of care for cholecystolithiasis but carries an increased risk of biliary injury compared to open cholecystectomy. Complications from laparoscopic cholecystectomy can be related to several factors. These include - (i) technical factors that depend on the skill of the surgeon, (ii) pathologic factors such as associated inflammation and adhesions, and (iii) anatomic factors such as biliary anatomy. Aberrant biliary anatomy is a major cause of bile duct injury during surgery. To the best of our knowledge familial aberrant biliary anatomy has not been previously reported in the literature. We report a case series of two biological sisters with isolated posterior right duct syndrome and present a brief literature review of this medical condition.