OpenMed/multicare-articles huggingface dataset:
Association between Mutation in SMARCAD1 and Basan Syndrome with Cutaneous Squamous Cell Carcinoma
Authors: Ying Xiong, Ting Chen, Jia Yu, He Zhou, Baozhen Lu, Lijie Chen, Liwei Sun, Can Wang, Sujun Li, Bo Wu
Journal: Dis Markers (2022)
MeSH terms: Carcinoma, Squamous Cell / genetics, Ectodermal Dysplasia / diagnosis, Ectodermal Dysplasia / genetics, Skin Neoplasms / genetics, Case Reports, Retracted Publication, DNA Helicases / genetics, Humans, Mutation, Nails, Malformed, Pedigree, SMARCAD1 protein, human, DNA Helicases, Basan syndrome

Background:
Basan syndrome is a rare autosomal-dominant ectodermal dysplasia with certain clinic-pathological features caused by mutations in the SMARCAD1 gene. Currently, no skin malignancy related to Basan syndrome has been reported. This study was aimed at identifying related gene mutations in a new Chinese pedigree with Basan syndrome and discovering the possible association between Basan syndrome and cutaneous squamous cell carcinoma (cSCC).
Methods:
We report a case of Basan syndrome from China with family history of cSCC. The pedigree contains 28 individuals. Among them, 12 members had Basan syndrome, while 4 affected members were diagnosed with cSCC in the 1st and 2nd generations. Whole exome sequencing (WES) and Sanger sequencing were performed for 7 available individuals. The specific gene mutation on pre-mRNA splicing was also analyzed using in vitro Minigene assay. In addition, sequencing data was analyzed with bioinformatics workflow, aiming to discover the gene associated with cSCC.
Results:
Gene sequencing results showed a heterozygous mutation, c.378+5G>A, in the SMARCAD1 gene in all tested individuals with Basan syndrome. Minigene result implicated the specific mutation may cause splicing variations by exon skipping occurring in the targeted exons.
Conclusion:
To the best of our knowledge, this is the first study reported Basan syndrome with family history of cSCC. Despite in this study we cannot draw any conclusion about the association between Basan syndrome and cSCC at the genetic level, this study encourages future works to substantiate this potential but important issue.
Small bowel intussusception in adults
Authors: J Potts, A Al Samaraee, A El-Hakeem
Journal: Ann R Coll Surg Engl (2014)
MeSH terms: Intestine, Small, Intussusception / surgery, Case Reports, Review, Adult, Delayed Diagnosis, Humans, Intestinal Polyps / complications, Intestinal Polyps / surgery, Intussusception / diagnosis, Intussusception / etiology, Male, Middle Aged

Intussusception is the telescoping of a proximal segment of the gastrointestinal tract into an adjacent distal segment. This rare form of bowel obstruction occurs infrequently in adults. We report a case of small bowel intussusception in an adult male patient. We have also performed a literature review of this rare condition.
Treating TNF Receptor Associated Periodic Fever Syndrome in End-Stage Renal Failure
Authors: J Coutinho, R S Chorão, M Oliveira, C R Santos
Journal: Case Rep Nephrol (2019)
MeSH terms: Case Reports

Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is a rare monogenic autoinflammatory disease. Its most severe manifestation is secondary amyloidosis. A 44-year-old male presented with nephrotic syndrome. Kidney biopsy was conclusive for secondary amyloidosis. The patient and his children had a history of recurrent febrile periods since infancy. All subjects were positive for a heterozygous variant of the TNFRSF1A gene, confirming TRAPS diagnosis. The patient progressed to end-stage renal failure and developed recurrent pericarditis episodes. He was started on anakinra while on hemodialysis with marked reduction of his serum amyloid A protein (SAA) levels. Meanwhile he received a cadaveric renal transplant and maintains anakinra treatment. Despite renal failure being the most feared complication of AA amyloidosis caused by TRAPS, little data is available about safety of anti-IL-1 treatment in patients with severe kidney failure. The authors report this case of a patient on dialysis treated with anakinra in which no complications were registered. Though amyloidosis is established, the authors believe containing its progression and reducing inflammatory activity can improve patient prognosis and reduce recurrence of amyloidosis in kidney transplant, as has been demonstrated in transplanted patients due to familial Mediterranean fever amyloidosis.
The Twists and Turns of Diagnosis and Treatment of Pediatric Neuro-Behcet's Disease: A Case Report and Literature Review
Authors: Qiao Zhang, Yizhen Luo, Jianli Zhou, Shaoming Zhou, Zhaoxia Wang
Journal: Front Pediatr (2021)
Keywords: crohn disease, neuro-behcet's disease, cerebral venous sinus thrombosis, child, diagnosis
MeSH terms: Case Reports

Background: The neurological manifestation of Behcet's disease (BD) is known as Neuro-Behcet's disease (NBD). The lack of a specific diagnostic method for NBD renders the diagnosis and treatment of NBD challenging. Methods and Results: We report a boy aged 11 years and 11 months who underwent right-eye intraocular lens implantation, appendectomy, perianal abscess removal, thalidomide therapy, and infliximab infusions for his Crohn disease. Magnetic resonance venography (MRV) and magnetic resonance imaging (MRI) were performed to address the onset of headache during the course of his treatment, and cerebral venous sinus thrombosis was detected. After the diagnosis of NBD, the patient was treated with anticoagulation therapy (nadroparin calcium), low-dose corticosteroids, and an immunosuppressant (cyclophosphamide), and consequently, he recovered. Conclusion: This case report shows that NBD is prone to misdiagnosis and missed diagnosis and should be diagnosed based on clinical manifestations and results from colonoscopy, pathological examination, and MRI or MRV.
Using Resin Infiltration Technique and Direct Composite Restorations for the Treatment of Carious Lesions with Different Depths
Authors: İsmail Serhat Sadıkoğlu
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

Minimally invasive treatment methods are of special interest in restorative dental practice, with numerous methods emerging in the last decade. Such methods are being developed to encompass various applications, an important one being the detection and treatment of caries in the early stages. White spot lesions are the earliest visible stage of the caries process. These lesions have a chalky, opaque appearance, which results in esthetic dissatisfaction. In contrast to the principles of minimally invasive dentistry, considerable amounts of sound tooth structure need to be sacrificed to get rid of these lesions. Therefore, caries infiltration has been introduced as an alternative treatment option for non-cavitated lesions. The resin infiltration technique only works in non-cavitated lesions. Replacement of lost dental tissue with resin composites remains the mainstay therapy in cases with cavity formation. This case report describes a case of caries with lesions of varying depths. In such cases, a combination of treatment methods may be used to provide satisfying esthetics with a minimally invasive approach.
Invasive ductal carcinoma arising in borderline phyllode tumor: A potential role of PIK3CA mutation
Authors: Sarah Bouri, Philippe Simon, Nicky D'Haene, Xavier Catteau, Jean-Christophe Noël
Journal: Int J Surg Case Rep (2020)
Keywords: borderline, invasive carcinoma, mutation, pik3ca, phyllode tumor
MeSH terms: Case Reports

Introduction:
Carcinomatous lesions associated with phyllodes tumors are extremely rare and are found in less than 1% of all cases. To date, the molecular biological mechanisms associated with this carcinomatous transformation remain unknown.
Presentation of case:
We present here the case of a 61-year-old patient with invasive ductal of no special type (NST) carcinoma originating in a borderline phyllode tumor with mutation in the PIK3CA gene.
Discussion:
To the best of our knowledge, this mutation has never been described in this type of association.
Conclusion:
Based on these data, we can better understand the ethiopathogenic molecular mechanisms in this type of lesion. Consequently, they could also in the future give rise to new therapeutic alternatives.
Skeletal muscle metastasis as an initial presentation of follicular thyroid carcinoma: a case report and a review of the literature
Authors: Mutahir A Tunio, Mushabbab Alasiri, Khalid Riaz, Wafa Alshakwer, Muhannad Alarifi
Journal: Case Rep Endocrinol (2013)

Introduction. Follicular thyroid carcinoma (FTC) frequently metastasizes to the lungs and bones. However, metastasis to the skeletal muscles is an extremely rare manifestation of FTC. To date, only seven cases of FTC have been reported in the literature. Skeletal muscle metastases from FTC usually remain asymptomatic or manifest as swelling and are associated with dismal prognosis. Case Presentation. A 45-year-old Saudi woman presented with right buttock swelling since 8 months. Physical examination revealed right gluteal mass of size 13 × 10 cm and right thyroid lobe nodule. The rest of examination was unremarkable. Magnetic resonance imaging (MRI) showed 13 × 11.7 × 6.8 cm lobulated mass arising from the gluteus medius muscle, and tru-cut biopsy confirmed the metastatic papillary carcinoma of thyroid origin. The patient subsequently underwent palliative radiotherapy followed by total thyroidectomy and radioactive iodine ablation. At the time of publication, the patient was alive with partial response in gluteal mass. Conclusion. Skeletal muscles metastases are a rare manifestation of FTC, and searching for the primary focus in a patient with skeletal muscle metastasis, thyroid cancer should be considered as differential diagnosis.
Successful Transabdominal Removal of Penetrating Iron Rod in the Rectum: A Case Report
Authors: Jay Lodhia, David Msuya, Kondo Chilonga, Danson Makanga
Journal: East Afr Health Res J (2021)
MeSH terms: Case Reports

Foreign bodies in the anus and rectum are not uncommon presentations globally. Reasons for foreign bodies in the rectum can be trauma, assault, psychiatric reasons but the most common reason documented is sexual pleasure, and objects range from sex toys to tools to packed drugs. Regardless of the reason, health care providers must maintain nonjudgmental composure and express empathy. Numerous cases have been reported of anorectal foreign body due to various causes. Removal of the objects has mostly been through rectally but some does need surgical intervention. A multidisciplinary approach and radiologic investigations are important to guide in the management outline. Establishment of guidelines for anorectal foreign bodies are needed to guide surgeons and emergency physicians on the course of treatment. We present a case of an eleven-year old school boy slid and fell on an iron rod that penetrated his rectum through his anal canal. Presented with clinical features of peritonitis, where emergency laparotomy was done and the iron rod was extracted abdominally with primary repair of the rectum. The boy recovered well and was discharged four days after with no complications.
Case Report: Acute Renal and Splenic Infarctions Secondary to Atrial Fibrillation
Authors: Li Yihan, Fan Guanqi, Hu Tong, Ge Junye, Jingquan Zhong, Tongshuai Chen
Journal: Front Cardiovasc Med (2022)
Keywords: radiofrequency ablation, atrial fibrillation, left atrial appendage occlusion, renal infarctions, splenic infarctions
MeSH terms: Case Reports

Acute renal and splenic infarctions are an uncommon condition that can result from obstruction or decrease of renal and splenic arterial flow. We described a 73-year-old woman who presented with right flank pain and nocturnal dyspnea. The computed tomography (CT) scan with intravenous contrast showed multiple infarcts in both bilateral kidneys and spleen. Serum creatinine clearance was impaired. Further investigation by electrocardiogram (ECG) and 24-h Holter revealed that the patient had paroxysmal atrial fibrillation (PAF). Transthoracic and transesophageal echocardiographic findings were unremarkable except for severe spontaneous echo contrast (SEC) in the left atrial appendage. The development of thromboembolic renal and splenic infarction was attributed to embolism caused by atrial fibrillation. Anticoagulant therapy was initiated with low molecular weight heparin (LMWH) and followed by an oral anticoagulant. To manage PAF and prevent further embolism, the "One-stop" procedure, including atrial fibrillation catheter ablation and left atrial appendage occlusion (LAAO), was applied to this patient. Follow-up at 1 month showed normal sinus rhythm, improved renal function, and relieved renal and splenic infarction.
Extended Peritoneal Dialysis and Renal Recovery in HIV-Infected Patients with Prolonged AKI: A Report of 2 Cases
Authors: Donlawat Saengpanit, Pongpratch Puapatanakul, Piyaporn Towannang, Talerngsak Kanjanabuch
Journal: Case Rep Nephrol (2017)
MeSH terms: Case Reports

Peritoneal dialysis (PD) has recently been established as a treatment option for renal replacement therapy (RRT) in patients with acute kidney injury (AKI). Its efficacy in providing fluid and small solute removal has also been demonstrated in clinical trials and is equivalent to hemodialysis (HD). However, effect of RRT modality on renal recovery after AKI remains a controversy. Moreover, the setting of human immunodeficiency virus- (HIV-) infected patients with AKI requiring RRT makes the decision on RRT initiation and modality selection more complicated. The authors report here 2 cases of HIV-infected patients presenting with severe AKI requiring protracted course of acute RRT. PD had been performed uneventfully in both cases for 4-9 months before partial renal recovery occurred. Both patients eventually became dialysis independent but were left in chronic kidney disease (CKD) stage 4. These cases highlight the example of renal recovery even after a prolonged course of dialysis dependence. Thus, PD might be a suitable option for HIV patients with protracted AKI.
Case Report: Partial Response Following Nivolumab Plus Docetaxel in a Patient With EGFR Exon 20 Deletion/Insertion (p.N771delinsGF) Mutant Lung Adenocarcinoma Transdifferentiated From Squamous Cell Carcinoma
Authors: Lingling Zhu, Yanyang Liu, Honglin Gao, Jiewei Liu, Qinghua Zhou, Feng Luo
Journal: Front Cell Dev Biol (2022)
Keywords: egfr exon 20 mutation, histological transformation, immune checkpoint blockade, immune therapy, non-small cell lung cancer
MeSH terms: Case Reports

The histological transformation from lung squamous cell carcinoma (LUSC) to lung adenocarcinoma (LUAD) and p. N771delinsGF mutations in EGFR exon 20 (ex20) are exceedingly rare in non-small cell lung carcinoma (NSCLC). EGFR ex20 mutations are insensitive to EGFR tyrosine kinase inhibitors in NSCLC. Here, we present a 76-year-old male smoker harboring LUAD with a novel p. N771delinsGF deletion/insertion mutation in EGFR ex20 transdifferentiating from advanced LUSC after chemoradiotherapy. The patient presented reduced hydrothorax and relieved tightness with the treatment of nivolumab plus docetaxel and carboplatin after the failure of second-line chemotherapy. The case highlights the importance of rebiopsy and molecular retesting after the progression of lung cancer and supports the idea that the combination of immune checkpoint blockade and chemotherapy may be an attractive option for patients with EGFR ex20 mutations associated with LUSC-LUAD transformation.
Postpartum reverse-Takotsubo from pheochromocytoma diagnosed by bedside point-of-care ultrasound: A case report
Authors: Jordan K Leitch, Anthony M-H Ho, Rene Allard, Glenio B Mizubuti
Journal: POCUS J (2020)
Keywords: cardiogenic shock, cardiomyopathy, pheochromocytoma, point-of-care ultrasound, pregnancy
MeSH terms: Case Reports

Point-of-care ultrasound is invaluable in the setting of obstetric anesthesia, where the differential diagnosis for dyspnea, hypoxemia and/or hemodynamic abnormalities is broad. This report describes a previously apparently healthy parturient with an uncomplicated pregnancy at 35-weeks gestation who underwent an emergency cesarean section under general anesthesia due to severe acute abdominal pain and fetal bradycardia. Intraoperatively, she presented with severe hypertension and tachycardia that were difficult to control and associated with ischemic ECG changes. In the immediate postoperative period, she developed retrosternal tightness and dyspnea, and a bedside point-of-care ultrasound scan revealed a grossly dilated and hypokinetic left ventricle, as well as diffuse B-lines throughout all lung fields - consistent with cardiogenic pulmonary edema. She was admitted to the intensive care unit, where she recovered over several days. Pheochromocytoma was subsequently diagnosed, and she eventually underwent uneventful elective adrenalectomy after appropriate endocrine and hemodynamic optimization.
Case Report: "Incognito" proteus syndrome
Authors: Michelangelo Vestita, Angela Filoni, Nicola Arpaia, Grazia Ettorre, Domenico Bonamonte
Journal: F1000Res (2018)
Keywords: cerebriform, diagnosis, elusive, hidden, keloid, proteus syndrome

Proteus syndrome (PS) is a postnatal mosaic overgrowth disorder, progressive and disfiguring. It is clinically diagnosed according to the criteria reported by Biesecker et al. We describe the case of a 49-year-old woman who presented with a 10-year history of pauci-symptomatic infiltrating plaque lesions on the sole and lateral margin of the left foot, which had been diagnosed as a keloid. The patient had a positive history for advanced melanoma and a series of subtle clinical signs, such as asymmetric face, scoliosis, multiple lipomas on the trunk, linear verrucous epidermal nevi, and hyperpigmented macules with a mosaic distribution. Even if the clinical presentation was elusive, she had enough criteria to be diagnosed with PS. This case describes the first evidence, to the best of our knowledge, of pauci-symptomatic PS in adulthood, reports its rare association with advanced melanoma, and illustrates the importance of even minor cutaneous clinical signs, especially when atypical, in formulating the diagnosis of a complex cutaneous condition such as this.
Does radiation therapy need more than two photon energies from Linac?
Authors: Xile Zhang, Fugen Zhou, Bo Liu, Tianyu Xiong, Xiangzhi Bai, Qiuwen Wu
Journal: Front Oncol (2022)
Keywords: energy synthesis, linear accelerator, photo energy, photon beam data characteristics, radiotherapy

Purpose:
Modern Linacs are equipped with multiple photon energies for radiation therapy, and proper energy is chosen for each case based on tumor characteristics and patient anatomy. The aim of this study is to investigate whether it is necessary to have more than two photons energies.
Methods:
The principle of photon energy synthesis is presented. It is shown that a photon beam of any intermediate energy (Esyn) can be synthesized from a linear combination of a low energy (Elow) and a high energy (Ehigh). The principle is validated on a wide range of scenarios: different intermediate photon energies on the same Linac; between Linacs from the same manufacturer or different manufacturers; open and wedge beams; and extensive photon energies available from published reference data. In addition, 3D dose distributions in water phantom are compared using Gamma analysis. The method is further demonstrated in clinical cases of various tumor sites and multiple treatment modalities. Experimental measurements are performed for IMRT plans and they are analyzed using the standard clinical protocol.
Results:
The synthesis coefficients vary with energy and field size. The root mean square error (RMSE) is within 1.1% for open and wedge fields. Excellent agreement was observed for British Journal of Radiology (BJR) data with an average RMSE of 0.11%. The 3D Gamma analysis shows a good match for all field sizes in the water phantom and all treatment modalities for the five clinical cases. The minimum gamma passing rate of 95.7% was achieved at 1%/1mm criteria for two measured dose distributions of IMRT plans.
Conclusion:
A Linac with two photon energies is capable of producing dosimetrically equivalent plans of any energy in-between through the photon energy synthesis, supporting the notion that there is no need to equip more than two photon energies on each Linac. This can significantly reduce the cost of equipment for radiation therapy.
Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases
Authors: Ana Costa E Castro, Raquel Maia, Sara Batalha, João Parente Freixo, Catarina Martins, Conceição Neves, Ana Isabel Cordeiro, João Farela Neves
Journal: Front Immunol (2022)
Keywords: bone marrow failure, case report, hypopigmentation, immunodeficiency, ligase iv, lymphopenia
MeSH terms: Leukopenia, Lymphopenia, Case Reports, Research Support, Non-U.S. Gov't, Bone Marrow Failure Disorders, DNA Ligases / genetics, Homozygote, Humans, Male, DNA Ligases

DNA ligase IV deficiency is a rare autosomal recessive disorder associated with impaired DNA repair mechanisms. Most patients with DNA repair defects present with neurologic deficits, combined immunodeficiency, bone marrow failure, and/or hematologic neoplasia. We present 3 unrelated cases of ligase IV deficiency with different clinical presentations. Patient 1 presented at the age of 5 with bone marrow failure, dysmorphic features, and T and B lymphopenia. A compound heterozygous variant L19W/K635fs in the LIG4 gene was identified. Patient 2 presented at the age of 16 with recurrent infections. He had agammaglobulinemia and absent B cells. A homozygous R278H in the LIG4 gene was identified. Patient 3 was referred for vitiligo and B-cell lymphopenia (low class-switched B cells) and hypogammaglobulinemia. Homozygous R278H in LIG4 was also identified. In the last few years, the spectrum of clinical manifestations caused by ligase IV deficiency has widened, making it very difficult to establish an accurate clinical diagnosis. The use of NGS allows a proper diagnosis and provides a better prognosis and adequate family counseling.
Prosthetic rehabilitation in children: an alternative clinical technique
Authors: Nádia Carolina Teixeira Marques, Carla Vecchione Gurgel, Ana Paula Fernandes, Marta Cunha Lima, Maria Aparecida Andrade Moreira Machado, Simone Soares, Thais Marchini Oliveira
Journal: Case Rep Dent (2013)

Complete and partial removable dentures have been used successfully in numerous patients with oligodontia and/or anodontia. However, there is little information in the literature regarding the principles and guidelines to prosthetic rehabilitation for growing children. This case report describes the management of a young child with oligodontia as well as the treatment planning and the prosthetic rehabilitation technique.