OpenMed/multicare-articles huggingface dataset:
Concentrated Growth Factors as an Ingenious Biomaterial in Regeneration of Bony Defects after Periapical Surgery: A Report of Two Cases
Authors: Nivedhitha Malli Sureshbabu, Kathiravan Selvarasu, Jayanth Kumar V, Mahalakshmi Nandakumar, Deepak Selvam
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

The overall success of a periapical surgery is assessed in terms of regeneration of functional periradicular tissues. The regenerative potential of platelets has been well documented. This article describes the use of concentrated growth factors (CGF), a new family of autologous platelet concentrates, as a sole material for bone regeneration after periapical surgery. 32- and 35-year-old female patients diagnosed with Ellis Class IV, an open apex in 11 with apical periodontitis in 11 and 12 and previously root canal-treated 31 and 41 with a chronic apical abscess, respectively, were managed with endodontic surgery. Subsequent to apicectomy and retrograde filling, the CGF fibrin block and membrane were used before suturing. There was uneventful healing during the immediate post-op and the subsequent follow-up periods. CGF is produced by a differential centrifugation process that results in the formation of a denser fibrin matrix richer in growth factors than those observed in PRF. Reasonable osseous healing was seen as early as 6-month follow-up, thereby recommending the use of CGF as an alternative to bone grafts and membranes in extensive periapical lesions to enhance bone regeneration and to decrease the healing time.
Severe Anaemia during Late Pregnancy
Authors: Mahenaz Akhtar, Ismail Hassan
Journal: Case Rep Obstet Gynecol (2012)

Vitamin B12 deficiency is uncommon in pregnancy, it occurs in 10-28% of uncomplicated pregnancies, and is associated with a few complications. We present a case report of a 21-year-old patient with severe anaemia during late pregnancy caused by vitamin B12 deficiency. At 38 weeks gestation and with a BMI of 48.9, a history of rupture of membranes was given but not confirmed. On examination, she appeared pale and therefore full blood counts were done. Interestingly her haemoglobin (Hb) levels were 3.7 g/dL. Folate and vitamin B12 levels were also found to be low, and the diagnosis of anaemia caused by vitamin B12 deficiency was made. After treatment with vitamin B12 injections, folic acid and blood transfusions, the patient's haemoglobin levels improved from 3.7 g/dL to 10.7 g/dL. The conclusion is that effective history taking, diagnosis, and management can prevent many complications that are usually associated with vitamin B12 deficiency anaemia.
Assistance of metagenomics next-generation sequencing for diagnosis of adenovirus pericarditis with pericardial effusion in a child: a case report and literature review
Authors: Liangkang Lin, Min Xu, Haiyang Zhang
Journal: Front Pediatr (2023)
Keywords: adenovirus, case report, metagenomics next-generation sequencing, pericardial effusion, pericarditis
MeSH terms: Case Reports

Human adenoviruses (HAdVs) can cause infection at any age but are most common in the pediatric population, especially young children and infants, with a peak incidence in infants and children from 6 months to 5 years of age. Adenovirus infection can cause severe pneumonia, but pericarditis from adenovirus infection was rare. This article reports a case of a 2-year-old patient with pericarditis caused by adenovirus infection and a moderate pericardial effusion. We detected positive adenovirus nucleic acid in the patient's blood by polymerase chain reaction assay. In addition, HAdVs were identified by metagenomics next-generation sequencing (mNGS) in blood and pericardial effusion. According to the test results and clinical practice, active symptomatic and supportive treatment was given, and finally the child recovered and was discharged from the hospital. Comprehensive and accurate diagnosis of pathogens is a prerequisite for effective treatment, and mNGS provides an effective means for diagnosing rare adenovirus myocarditis in children.
Peritoneal lipomatosis: a case report of a 12-year-old boy
Authors: L Fotis, J Koglmeier, N Shah
Journal: Case Rep Gastrointest Med (2013)

Peritoneal lipomatosis is a rare disease in childhood with only two cases previously described in children. We report a further case of a 12-year-old boy diagnosed with peritoneal lipomatosis. His main symptoms were abdominal pain, alternating bowel habit, abdominal distension, and melaena. His diagnostic work up included an abdominal MRI, wireless capsule endoscopy and single-balloon enteroscopy. Peritoneal lipomatosis although rare can be diagnosed in childhood. It is a benign clinical entity with variable manifestations.
Gingival Cyst of the Adult as Early Sequela of Connective Tissue Grafting
Authors: Mariana Gil Escalante, Dimitris N Tatakis
Journal: Case Rep Dent (2015)

The subepithelial connective tissue graft (SCTG) is a highly predictable procedure with low complication rate. The reported early complications consist of typical postsurgical sequelae, such as pain and swelling. This case report describes the development and management of a gingival cyst following SCTG to obtain root coverage. Three weeks after SCTG procedure, a slightly raised, indurated, ~5 mm diameter asymptomatic lesion was evident. Excisional biopsy was performed and the histopathological evaluation confirmed the gingival cyst diagnosis. At the 1-year follow-up, the site had complete root coverage and normal tissue appearance and the patient remained asymptomatic.
Case report: Congenital hyperinsulinemia with ABCC8 gene mutations
Authors: Jin Zhang, Jiyang Wang, Hui Chen
Journal: Front Pediatr (2022)
Keywords: abcc8 gene, case report, congenital hyperinsulinemia, diabetes, subtotal pancreatectomy
MeSH terms: Case Reports

Background:
Congenital hyperinsulinemia (CHI) is an inherited disease of abnormal insulin secretion and is the main cause of persistent and intractable hypoglycemia in infants. The aim of this case report was to investigate the genetic mechanisms and treatment of CHI in an affected patient.
Case summary:
We collected clinical data from, and performed gene capture, high-throughput gene sequencing analysis, and Sanger sequencing validation, in a child with CHI and his family to identify the causative gene mutations. Two heterozygous pathogenic mutations in the ATP-binding cassette subfamily C member 8 (ABCC8) gene were detected in the child: c.863G>A (p.Trp288Ter) in exon 6 and c.2506C>T (p.Arg836Ter) in exon 21. Sanger sequencing showed that c.863G>A was inherited from heterozygous mutations in the paternal line and c.2506C>T from heterozygous mutations in the maternal line.
Conclusion:
The child was a CHI with a biallelic recessive heterozygous mutations in ABCC8 resulting in impairment of its encoded ATP-sensitive potassium (KATP) channel, poor response to diazoxide treatment, and developed diabetes after subtotal pancreatectomy.
Comparison of cognitive profiles in spinocerebellar ataxia subtypes: a case series
Authors: Corey Bolton, Maureen Lacy
Journal: Cerebellum Ataxias (2019)
Keywords: cerebellum, cognition, depression, neuropsychology, spinocerebellar ataxias
MeSH terms: Case Reports

Background:
The spinocerebellar ataxias (SCA) are a heterogeneous group of progressive neurodegenerative disorders that are associated with diffuse cerebellar atrophy. While the physical symptoms of this condition have long been studied, more attention has been given to cognitive changes in recent years. We describe a case series of four adults with various genetically-confirmed subtypes of SCA.
Case presentation:
Patients with SCA types 2, 3, and 6 presented with impaired cognitive profiles consistent with the existing literature while the reported patient with SCA-14 showed notable impairment inconsistent with the only published case controlled study.
Conclusions:
Comparisons were made between the four patients with a common pattern of slowed processing speed, poor memory retrieval, and reduced mental flexibility. Confrontation naming and consolidation-based memory were intact across all patients. These findings are discussed in light of the relevant literature on cerebellar cognitive affective syndrome.
Iris-Occlusion of XEN Gel Stent following Ab Externo Transconjunctival Implantation Technique
Authors: Sunil Ruparelia, Nir Shoham-Hazon
Journal: Case Rep Ophthalmol Med (2021)
MeSH terms: Case Reports

The use of minimally invasive glaucoma surgery (MIGS) devices has become increasingly common for the management of elevated intraocular pressure (IOP) in the context of glaucoma. These technologies have traditionally been associated with fewer postoperative complications than conventional surgical techniques. However, we report on a rare case of transient XEN occlusion associated with pupil dilation following XEN gel stent implantation. This case highlights that in future XEN implantations, it may be preferable to position the XEN at a lesser angle to the iris to prevent such an occlusion. The use of different positionings of XEN is performed to optimize outcomes. However, it is highlighted that complications may arise in certain circumstances.
Video-assisted thoracic surgery for primary myelolipoma of the posterior mediastinum
Authors: Naoya Himuro, Takao Minakata, Yutaka Oshima, Yuri Tomita, Daisuke Kataoka, Shigeru Yamamoto, Mitsutaka Kadokura
Journal: J Cardiothorac Surg (2016)
MeSH terms: Mediastinal Neoplasms / surgery, Myelolipoma / surgery, Thoracic Surgery, Video-Assisted, Case Reports, Humans, Male, Middle Aged

Background:
Myelolipoma is an uncommon tumor comprising adipose tissue and normal hematopoietic cells and mainly occurs in the adrenal cortex. Mediastinal myelolipoma is very rare; we report a case of posterior mediastinal myelolipoma that required surgical resection.
Case presentation:
A 56-year-old male was diagnosed with a posterior mediastinal tumor by computed tomography. The tumor was originally noted in 2005, and during follow-up in March 2014, it was found to have increased in size. During consultation at our hospital, on magnetic resonance imaging (MRI), we considered the possibility that the tumor was malignant. Consequently, we resected the tumor by video-assisted thoracic surgery (VATS). The histopathological findings revealed that the tumor had undergone intrathoracic extramedullary hematopoiesis. However, after considering the patient's background and histopathological findings, we diagnosed the tumor as a thoracic extra-adrenal myelolipoma.
Conclusions:
Pathological analysis was instrumental in clarifying the diagnosis. We recommend surgery as a treatment option for posterior mediastinal tumors.
Ectopic Papillary Thyroid Cancer with Distant Metastasis
Authors: Oscar R Vázquez, Frieda Silva, Eduardo Acosta-Pumarejo, Maria L Marín
Journal: Case Rep Endocrinol (2018)
MeSH terms: Case Reports

Ectopic thyroid tissue is a rare clinical entity wherein malignant lesions may arise, the most common one being papillary carcinoma. We present a case of a 68-year-old female who presented with a growing mass in the right clavicle. An MR of the shoulder showed a soft tissue mass arising from the anterior margin of the right distal clavicle. A fine needle aspiration of the mass showed papillary thyroid carcinoma. PET/CT confirmed the clavicular and mediastinal mass. Excision of the clavicular mass and total thyroidectomy with modified right neck dissection were performed. Pathology revealed no evidence of malignancy in the thyroid; lymph nodes were positive for metastatic thyroid carcinoma. Postsurgery CT showed the superior mediastinal mass with surrounding adenopathy; radioiodine (RAI) treatment with dose of 142.1 mCi [5257.7 MBq] was recommended. Posttherapy whole-body scan (WBS) showed RAI avid tissue in the neck and superior mediastinum. Follow-up chest CT revealed pulmonary nodules that increased in number and size; a second RAI therapeutic dose was given. The posttherapy RAI WBS was negative. Repeat PET/CT showed multiple hypermetabolic lesions in the mediastinum, neck, lymph nodes, pulmonary nodes, and right shoulder. The FDG avid lesions with no RAI uptake suggested tumor dedifferentiation.
Is your drinking-water safe? A rotavirus outbreak linked to water refilling stations in the Philippines, 2016
Authors: Niño D Rebato, Vikki Carr D de Los Reyes, Ma Nemia L Sucaldito, Gretchen R Marin
Journal: Western Pac Surveill Response J (2019)
MeSH terms: Drinking Water / standards, Drinking Water / virology, Rotavirus Infections / diagnosis, Case Reports, Adolescent, Adult, Case-Control Studies, Child, Disease Outbreaks / prevention & control, Disease Outbreaks / statistics & numerical data, Drinking Water / adverse effects, Feces / virology, Female, Humans, Male, Middle Aged, Philippines / epidemiology, Polymerase Chain Reaction / methods, Population Surveillance / methods, Risk Factors, Rotavirus / pathogenicity, Rotavirus Infections / epidemiology, Drinking Water

Introduction:
In April 2016, the Department of Health in Zamboanga Peninsula reported an increase in the number of acute gastroenteritis cases reported from Zamboanga City. An epidemiologic investigation was conducted to verify the existence of an outbreak, determine source/mode of transmission and recommend control measures.
Methods:
A line list of cases was compiled from the 11 hospitals within Zamboanga City and a case-series study was conducted. Suspected cases were any persons from Zamboanga City who had three or more episodes of acute diarrhoea within 24 hours from 15 March to 29 May 2016. Confirmed cases were suspected cases with active symptoms during the investigation who had a stool sample collected with rotavirus detected. Water samples were also collected for viral detection.
Results:
There were 2936 suspected cases with 22 deaths (case fatality rate: 0.75%), an age range of 8 days to 89 years (median: 2 years), with those aged less than 5 years the most affected age group (1903/2936, 65%). The majority were males (1549/2936, 53%). From the 138 active case patients included in the case-series study, the majority reported contact with a family member who had diarrhoea (89/138, 64%) and using water refilling stations as their major source of drinking-water (88/134, 64%). Of the 93 stool specimens collected, 56 (60%) were positive for rotavirus. Five samples from water refilling stations where case patients reported collecting drinking-water were all positive for rotavirus.
Discussion:
Strict regulation of water refilling stations and boiling drinking-water in households were implemented, immediately controlling the outbreak. After complying with all the requirements set by the Department of Health, a water safety certificate was awarded to Zamboanga City in September 2018.
Clear-cell adenocarcinoma of vesical origin: a case study of metastatic disease treated with chemotherapy
Authors: Carolina Pena Álvarez, Isabel Lorenzo Lorenzo, Silvia Varela Ferreiro, Rosa Pardavila Gómez, Hae Jin Suh Oh, Andrea Saénz de Miera Rodríguez, Marta Covela Rúa, Wilver Federico Carbonell Luyo, Francisco Ramón García Arroyo, Pedro López Clemente, Patricia Palacios Ozores, Manuel Constenla Figueiras
Journal: Chemother Res Pract (2010)
MeSH terms: Case Reports

Vesical clear cell adenocarcinoma is an uncommon tumour. The description of nearly all published cases focuses on histological issues, providing few clinical particulars and limited followup. The treatment choice is resection. No publications have been found regarding systemic treatments for advanced disease. We present a case of metastatic clear cell adenocarcinoma of the bladder treated with chemotherapy.
Bilateral Peritonsillar Abscesses: A Case Presentation and Review of the Current Literature with regard to the Controversies in Diagnosis and Treatment
Authors: G X Papacharalampous, P V Vlastarakos, G Kotsis, D Davilis, L Manolopoulos
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Although unilateral peritonsillar abscess is a common complication of acute bacterial tonsillitis, bilateral peritonsillar abscesses are quite rare. The incidence of unsuspected contralateral peritonsillar abscess identified at tonsillectomy has been reported to be between 1.9% and 24%, while the overall incidence of bilateral peritonsillar abscess is reported to reach 4.9%. Diagnosis can be based on clinical criteria or imaging techniques. As far as the treatment is concerned, it is generally accepted that the basic strategy consists of systemic antibiotics and drainage of the pus. We report the case of a 19-year-old girl, treated in the emergency room with a bilateral diagnostic needle aspiration followed by bilateral incision and drainage along with intravenous clindamycin plus anti-inflammatory agents and hydration. Following treatment, the patient progressively experienced a marked alleviation of her odynophagia. She was discharged 48 hours later on a 10-day course of clindamycin.
Case Report: An NTRK1 fusion-positive embryonal rhabdomyosarcoma: clinical presentations, pathological characteristics and genotypic analyses
Authors: Na-Mei Li, Shi-He Jiang, Peng Zhou, Xiao-Hong Li
Journal: Front Oncol (2023)
Keywords: ntrk1 fusion, case report, embryonal rhabdomyosarcoma, next generation sequencing (ngs), pathological features
MeSH terms: Case Reports

Rhabdomyosarcoma (RMS) is a prevalent form of soft tissue sarcoma that primarily affects children. Pediatric RMS is characterized by two distinct histological variants: embryonal (ERMS) and alveolar (ARMS). ERMS is a malignant tumor with primitive characteristics resembling the phenotypic and biological features of embryonic skeletal muscles. With the widespread and growing application of advanced molecular biological technologies, such as next-generation sequencing (NGS), it has been possible to determine the oncogenic activation alterations of many tumors. Specifically for soft tissue sarcomas, the determination of tyrosine kinase gene and protein related changes can be used as diagnostic aids and may be used as predictive markers for targeted tyrosine kinase inhibition therapy. Our study reports a rare and exceptional case of an 11-year-old patient diagnosed with ERMS, who tested positive for MEF2D-NTRK1 fusion. The case report presents a comprehensive overview of the clinical, radiographic, histopathological, immunohistochemical, and genetic characteristics of a palpebral ERMS. Furthermore, this study sheds light on an uncommon occurrence of NTRK1 fusion-positive ERMS, which may provide theoretical basis for therapy and prognosis.
A Case Report of Two Kala-azar Cases in China Diagnosed by Metagenomic Next-Generation Sequencing
Authors: Hongguang Gao, Jing Wang, Shu Zhang, Tian Li
Journal: Front Med (Lausanne) (2022)
Keywords: leishmania, diagnosis, fever, kala-azar, mngs

Background:
Leishmaniasis being a local disease, as kala-azar this particular form is a visceral form. It is transmitted by sandflies, and is a parasitic disease involving the reticuloendothelial system of mononuclear macrophages. Due to its poor prognosis and high fatality rate, the fatality rate of patients without effective treatment can exceed 95%. Thereby, early diagnosis and treatment can significantly improve its prognosis. The metagenomic next-generation sequencing (mNGS) has the advantage of being able to find pathogens that cannot be detected by traditional methods. More importantly, it can conduct nucleic acid detection of pathogens covering a wide range in a short time. For infectious diseases like kala-azar, which is clinically complicated and difficult, mNGS detection provides a basis for accurate etiological diagnosis.
Case report:
We report 2 cases of kala-azar in West China Hospital, Chengdu, China. The first case is a 47-year-old male patient who had recurrent fever for 4 months, accompanied by reduction of red blood cell, white blood cell, and blood platelet. He was detected by mNGS and clinically diagnosed as kala-azar (Leishmania detection), finally died of multiple organ failure. The second patient was a 15-year-old male who had fever for more than 10 days. He was detected by mNGS and clinically diagnosed as kala-azar (Leishmania detection). He recovered and discharged quickly after treatment with sodium stibogluconate.
Conclusion:
Efforts should be made to improve early etiological diagnosis in order to improve patient prognosis. mNGS detection is beneficial to the diagnosis and treatment of infectious diseases with unknown causes in the early stage of emergency treatment.
Bile Leak following Laparoscopic Cholecystectomy due to Perforated Duodenal Ulcer in Patient with Roux-en-Y Gastric Bypass
Authors: Amanda M Marsh, Ayman Almousa, Thomas Genuit, David Forcione, Karin Blumofe
Journal: Case Rep Surg (2021)
MeSH terms: Case Reports

Perforated ulcers of the excluded stomach or duodenum are exceedingly rare in patients who have undergone Roux-en-Y gastric bypass surgery. The diagnosis of perforated ulcer after Roux-en-Y gastric bypass remains challenging as there is often absence of free air or contrast extravasation from the biliopancreatic limb. We present a patient with signs and symptoms of acute cholecystitis. Laparoscopic cholecystectomy was complicated by postoperative bile leak. EDGE procedure was performed to access the remnant stomach and endoscopic evaluation revealed a perforated ulcer in the posterior duodenal bulb. Although unusual, in patients with bariatric surgery and upper abdominal pain, differential diagnosis including perforated ulcer of the biliopancreatic limb must be considered and early surgical exploration is essential.
A rare case of arrhythmogenic right ventricular cardiomyopathy associated with LAMA2 mutation: A case report and literature review
Authors: Yue Wang, Yibing Fang, Dan Zhang, Yifei Li, Shuhua Luo
Journal: Front Med (Lausanne) (2022)
Keywords: arvc, lama2, case report, ipsc, literature review
MeSH terms: Case Reports

Background:
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable heart muscle disorder that predominantly affects the right ventricle. Mutations in genes that encode components of desmosomes, the adhesive junctions that connect cardiomyocytes, are the predominant cause of ARVC. A case with novel heterozygous mutation in the LAMA2 gene is reported here. The protein encoded by LAMA2 gene is the α2 chain of laminin-211 protein, which establishes a stable relationship between the muscle fiber membrane and the extracellular matrix. We explored the potential mechanism and the relationship between the mutation and ARVC.
Case presentation:
At the age of 8, the patient developed syncope and palpitation after exercise. Dynamic electrocardiogram recorded continuous premature ventricular beats, and MRI showed the right ventricle was significantly enlarged and there were many localized distensions at the edge of the right ventricular wall. The patient was diagnosed with ARVC and received heart transplantation at the age of 14 due to severe heart dysfunction. The myocardial histological pathological staining revealed a large amount of fibrosis and adipose migration. Whole exome sequencing (WES) identified the heterozygous mutation in the LAMA2 gene [NM_000426.3: c.8842G > A (p.G2948S)]. This is the first report of these variants. Analysis was performed on genetic disorders to reveal splice site changes and damage to protein structure. LAMA2 p.G2948S predicted unstable protein structure and impaired function. Induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) were established. RNA-seq and the western blot were performed on IPSC-CMs to explore the ARVC-related signaling pathway.
Conclusion:
This is the first case report to describe an ARVC phenotype in patients possessing a novel LAMA2 c.8842G > A (p.G2948S) mutation. Our results aid in understanding of the pathogenesis of ARVC. The molecular mechanism of LAMA2 leading to ARVC disease still needs further study.