OpenMed/multicare-articles huggingface dataset:
Novel variants of NEK9 associated with neonatal arthrogryposis: Two case reports and a literature review
Authors: Fang Liu, Liying Dai, Zhi Li, Xiaowei Yin's
Journal: Front Genet (2023)
Keywords: nima-related kinase 9 (nek9), arthrogryposis, clinical, mutation, recessive

Objective: Pathogenic variants in NEK9 (MIM: 609798) have been identified in patients with lethal congenital contracture syndrome 10 (OMIM: 617022) and arthrogryposis, Perthes disease, and upward gaze palsy (APUG and OMIM: 614262). The shared core phenotype is multiple joint contractures or arthrogryposis. In the present study, three novel variants of NEK9 associated with neonatal arthrogryposis were reported. Methods: The clinical data of two premature infants and their parents were collected. The genomic DNA was extracted from their peripheral blood samples and subjected to trio-whole-exome sequencing (trio-WES) and copy number variation analysis. Results: Using trio-WES, a total of three novel pathogenic variants of NEK9 were detected in the two families. Patient 1 carried compound heterozygous variations of c.717C > A (p. C239*741) and c.2824delA (p.M942Cfs*21), which were inherited from his father and mother, respectively. Patient 2 also carried compound heterozygous variations of c.61G > T (p. E21*959) and c. 2824delA (p. M942Cfs*21), which were inherited from his father and mother, respectively. These variants have not been previously reported in the ClinVar, HGMD, or gnomAD databases. Conclusion: This is the first report about NEK9-related arthrogryposis in neonatal patients. The findings from this study suggest that different types of mutations in NEK9 lead to different phenotypes. Our study expanded the clinical phenotype spectrum and gene spectrum of NEK9-associated arthrogryposis.
Complete Response of Synchronous Liver Metastasis in a Pancreatic Ductal Adenocarcinoma, When Surgery Could Represent a Therapeutic Option
Authors: Antonella Argentiero, Angela Calabrese, Angela Monica Sciacovelli, Sabina Delcuratolo, Antonio Giovanni Solimando, Oronzo Brunetti
Journal: Can J Gastroenterol Hepatol (2020)
MeSH terms: Adenocarcinoma / drug therapy, Adenocarcinoma / secondary, Carcinoma, Pancreatic Ductal, Liver Neoplasms / drug therapy, Liver Neoplasms / secondary, Pancreatic Neoplasms / drug therapy, Pancreatic Neoplasms / pathology, Case Reports, Antineoplastic Combined Chemotherapy Protocols / therapeutic use, Humans, Male, Middle Aged

Metastatic pancreatic ductal adenocarcinoma (PDAC) is characterized by poor prognosis and short survival. Today, the use of new polytherapeutic regimens increases clinical outcome of these patients opening new clinical scenario. A crucial issue related to the actual improvement achieved with these new regimens is represented by the occasional possibility to observe a radiological complete response of metastatic lesions in patients with synchronous primary tumor. What could be the best therapeutic management of these patients? Could surgery represent an indication? Herein, we reported a case of a patient with PDAC of the head with multiple liver metastases, who underwent first-line chemotherapy with mFOLFIRINOX. After 10 cycles, he achieved a complete radiological response of liver metastases and a partial response of pancreatic lesion. A duodenocephalopancreasectomy was performed. Due to liver a lung metastases after 8 months from surgery, a second-line therapy was started with a disease-free survival and overall survival of 8 months and 45 months, respectively. Improvement in the molecular characterization of PDAC could help in the selection of patients suitable for multimodal treatments. This trial is registered with NCT02892305 and NCT00855634.
The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review
Authors: Shiqiu Xiong, Yang Jia, Shijun Li, Peng Huang, Jie Xiong, Dingan Mao, Qingnan He, Liqun Liu
Journal: Front Pediatr (2021)
Keywords: abcb7 gene, x-linked sideroblastic anemia with ataxia, xlsa/a, ataxia, sideroblastic anemia
MeSH terms: Case Reports

X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare X-liked inherited disease, which was linked to the ABCB7 gene mutations. So far, five families have been reported worldwide. We present the first Chinese family of XLSA/A with novel ABCB7 gene mutation (c.2024A > G) and make a retrospective literature review. All affected patients were male. Age of symptom onset was <2 years old. The main symptoms included ataxia, delay in motor development, and mild sideroblastic anemia with obviously increased erythrocyte protoporphyrin. In this case, he had new symptoms that had not been reported in other cases such as epilepsy and cryptorchidism. We also discuss the possible molecular mechanism linking ABCB7 gene mutations to sideroblastic anemia and ataxia.
Clinicopathologic Features and Treatment of CD10-Positive Mantle Cell Lymphoma: A Case Report and Review of Literature
Authors: Christopher Hino, Bryan Pham, Austin L Gray, Jun Wang, Dan Ran Castillo, Mojtaba Akhtari, Yan Liu
Journal: Pathol Oncol Res (2022)
Keywords: b-cell chronic lymphoproliferative disorders, ccnd1, cd10, case report, immunophenotyping, mantle cell lymphoma
MeSH terms: Lymphoma, B-Cell / pathology, Lymphoma, Mantle-Cell / drug therapy, Lymphoma, Mantle-Cell / genetics, Lymphoma, Mantle-Cell / metabolism, Case Reports, Review, Adult, Humans, Immunophenotyping, In Situ Hybridization, Fluorescence, Neprilysin, Translocation, Genetic, Neprilysin

Mantle cell lymphoma (MCL) is a rare and aggressive non-Hodgkin's B cell lymphoma characterized by the translocation t(11;14) (q13;32) and overexpression of CCND1. MCL is immunophenotypically identified as CD20+, CD5+, CyclinD1+, CD43+, CD10-, BCL6-, and CD23-. It is often distinguished from B cell lymphomas of germinal center cell origin by the absence of CD10 expression. Here we report the unique clinicopathologic features of a patient with CD10+ MCL with gastrointestinal involvement and review current literature identifying this unique immunophenotype.
A Personalized Therapeutics Approach Using an In Silico Drosophila Patient Model Reveals Optimal Chemo- and Targeted Therapy Combinations for Colorectal Cancer
Authors: Mahnoor Naseer Gondal, Rida Nasir Butt, Osama Shiraz Shah, Muhammad Umer Sultan, Ghulam Mustafa, Zainab Nasir, Risham Hussain, Huma Khawar, Romena Qazi, Muhammad Tariq, Amir Faisal, Safee Ullah Chaudhary
Journal: Front Oncol (2021)
Keywords: boolean network models, cancer systems biology, combinatorial therapeutics, personalized in silico cancer models, preclinical in silico drug screening

In silico models of biomolecular regulation in cancer, annotated with patient-specific gene expression data, can aid in the development of novel personalized cancer therapeutic strategies. Drosophila melanogaster is a well-established animal model that is increasingly being employed to evaluate such preclinical personalized cancer therapies. Here, we report five Boolean network models of biomolecular regulation in cells lining the Drosophila midgut epithelium and annotate them with colorectal cancer patient-specific mutation data to develop an in silico Drosophila Patient Model (DPM). We employed cell-type-specific RNA-seq gene expression data from the FlyGut-seq database to annotate and then validate these networks. Next, we developed three literature-based colorectal cancer case studies to evaluate cell fate outcomes from the model. Results obtained from analyses of the proposed DPM help: (i) elucidate cell fate evolution in colorectal tumorigenesis, (ii) validate cytotoxicity of nine FDA-approved CRC drugs, and (iii) devise optimal personalized treatment combinations. The personalized network models helped identify synergistic combinations of paclitaxel-regorafenib, paclitaxel-bortezomib, docetaxel-bortezomib, and paclitaxel-imatinib for treating different colorectal cancer patients. Follow-on therapeutic screening of six colorectal cancer patients from cBioPortal using this drug combination demonstrated a 100% increase in apoptosis and a 100% decrease in proliferation. In conclusion, this work outlines a novel roadmap for decoding colorectal tumorigenesis along with the development of personalized combinatorial therapeutics for preclinical translational studies.
Colonic atresia and anorectal malformation in a Haitian patient: a case study of rare diseases
Authors: Max Herby Derenoncourt, Gerard Baltazar, Tamar Lubell, Alice Ruscica, Cyril Sahyoun, Francisca Velcek
Journal: Springerplus (2014)
Keywords: anorectal malformation, colonic atresia, intestinal atresia, wingspread classification

Introduction:
Colonic atresia and anorectal malformation are rare congenital anomalies individually. Few reports of the conditions combined in a single patient have been published in the literature. Neither colonic atresia, anorectal malformation or a combination of the disorders has previously been reported in the Haitian population.
Case presentation:
A 5-day-old female presented with feculent emesis, failure to pass stool since birth and an imperforate and stenotic anus. Exploratory laparotomy revealed colorectal atresia distal to a malformed cecum and a Wingspread low subtype anorectal malformation without any associated urogenital fistulae. Temporizing percutaneous ileal drainage was followed by second-stage anal perforation and dilation, ileal J-pouch and pull through.
Discussion:
This is the first reported case of colonic atresia, anorectal malformation or the combination of the disorders among the Haitian population and one of only a handful of such cases reported worldwide. Although vascular accidents in utero have been implicated as the etiology of colonic atresia, simultaneous presence of anorectal malformation suggests a multifactorial cause. Investigation for multisystem abnormalities is warranted. Two-staged operative correction is considered the best treatment; however, long-term postoperative outcomes are uncertain.
Conclusion:
The coexistence of colonic atresia and anorectal malformation is a very rare occurrence and presents unique clinical and operative challenges. Investigation for additional congenital abnormalities is appropriate, and although two-stage operative correction is considered the best treatment, long-term outcomes are uncertain.
Cardiac failure after liver transplantation requiring a biventricular assist device
Authors: Rita Jermyn, Eiei Soe, David D'Alessandro, Julia Shin, William Jakobleff, Daniel Schwartz, Milan Kinkhabwala, Paul J Gaglio
Journal: Case Rep Transplant (2014)

Increased hepatic iron load in extrahepatic organs of cirrhotic patients with and without hereditary hemochromatosis portends a poorer long term prognosis after liver transplant. Hepatic as well as nonhepatic iron overload is associated with increased infectious and postoperative complications, including cardiac dysfunction. In this case report, we describe a cirrhotic patient with alpha 1 antitrypsin deficiency and nonhereditary hemochromatosis (non-HFE) that developed cardiogenic shock requiring mechanical circulatory support for twenty days after liver transplant. Upon further investigation, she was found to have significant iron deposition in both the liver and heart biopsies. Her heart regained complete and sustained recovery following ten days of mechanical biventricular support. This case highlights the importance of preoperatively recognizing extrahepatic iron deposition in patients referred for liver transplantation irrespective of etiology of liver disease as this may prevent postoperative complications.
Positive experience with TNF-α inhibitor in toxic epidermal necrolysis resistant to high-dose systemic corticosteroids
Authors: Ekaterina A Nikitina, Daria S Fomina, Ulyana A Markina, Sergey S Andreev, Yuri V Streltsov, Tatiana S Kruglova, Marina S Lebedkina, Alexander V Karaulov, Maryana A Lysenko
Journal: Front Med (Lausanne) (2023)
Keywords: etancercept, stevens-johnson syndrome, tnf-α inhibitor, tnf-α inhibitor/anti tnf-α, toxic epidermal necrolysis, toxic epidermal necrolysis (stevens-johnson syndrome/toxic epidermal necrolysis)
MeSH terms: Case Reports

Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare, potentially life-threatening syndromes characterized by the development of necrotic epidermal and mucosal lesions. The most common etiologic cause of SJS/TEN is drug-induced mechanisms. The group of drugs with high potential risk includes sulfonamides, anticonvulsants, non-steroidal anti-inflammatory drugs (NSAIDs), allopurinol, phenobarbital, etc. There is no gold standard treatment algorithm for SJS/TEN. In medical practice, systemic glucocorticosteroids (sGCS), intravenous immunoglobulin (IVIG), plasmapheresis, and cyclosporine are used empirically and in various combinations. Recently published studies have demonstrated the efficacy of TNF-α inhibitors as a promising approach in SJS/TEN, including cases resistant to high-dose sGCS, with etanercept and infliximab being the most commonly used drugs. In a large multicenter study by Zhang J et al. (XXXX), 242 patients treated with etanercept, sGCS, or a combination of both had lower mortality compared to the control group. A shorter skin healing time was documented compared to sGCS monotherapy, thus reducing the risk of secondary infections. The published data show a high efficacy with THF-α inhibitor blockade, but the safety of TNF-α inhibitors in patients with SJS/TEN is still questionable due to the paucity of available information. As all clinical research data should be accumulated to provide reliable evidence that the use of TNF-α inhibitors may be beneficial in SJS/TEN, we report a case of etoricoxib-associated SJS with progression to TEN in a 50-year-old woman who was refractory to high-dose sGCS therapy.
Cystic Dilation of the Aqueductus Sylvii in Case of Trisomy 17p11.2-pter with the Deletion of the Terminal Portion of the Chromosome 6
Authors: Emese Horváth, János Sikovanyecz, Attila Pál, László Kaiser, Bálint L Bálint, Póliska Szilárd, Zoltán Kozinszky, János Szabó
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Since the 1970s, about 30 cases of partial or complete trisomy 17p have been presented in the literature. Partial trisomies of the short arm of chromosome 17 are somewhat more common, but complete trisomy is quite rare. Most of these cases were described in infants and newborns; and to our knowledge only 3 cases of trisomy 17p have been detected intrauterine. Phenotypic features of trisomy 17p in fetuses are intrauterine growth retardation, ventriculomegaly, cleft lip and cleft palate, micrognathia, horseshoe kidneys, single umbilical artery, and congenital heart defects. The sonographic and foetopathologic findings of a pregnancy trisomy 17p11.2-pter with the deletion of the terminal portion of the chromosome 6 due to paternal balanced translocation are described in this case report.
Invasive Mole Resulting in Uterine Rupture: A Case Report
Authors: Anshan Wu, Qiong Zhu, Chang Tan, Long Chen, Yin Tao
Journal: Front Surg (2022)
Keywords: gtn, hcg, invasive mole, mole, uterine rupture
MeSH terms: Case Reports

Uterine surgery is a common predisposing factor for uterine rupture, while an invasive mole that leads to uterine rupture is a rare clinical occurrence. Here, we report a case of a 31-year-old childless woman who underwent abortion after 53 days of pregnancy. She still experienced abdominal pain and scanty vaginal bleeding after the abortion. Her levels of human chorionic gonadotropin (HCG) were high, while ultrasound and MRI results revealed an enlarged uterus and a mass in the myometrium. During preparation for treatment, the gynecologist ruptured the uterus of the patient, leaving her shocked. Eventually the patient's uterus was removed the uterus and pathologically diagnosed as result is the an invasive mole.
Conjunctivitis as the only sign and symptom of COVID-19: A case report and review of literature
Authors: Hamzeh Mohammad Alrawashdeh, Khalid Al Zubi, Dina M Abdulmannan, Omar Al-Habahbeh, Luai Abu-Ismail
Journal: Qatar Med J (2021)
Keywords: covid-19, sars-cov-2, conjunctivitise, coronavirus, healthcare providers, ophthalmologists
MeSH terms: Case Reports

Similar to several viruses, coronaviruses can affect the eye and cause conjunctivitis. In addition to ocular involvement, it causes systemic manifestations, mainly respiratory symptoms. However, conjunctivitis as the only sign and symptom of coronavirus disease 2019 (COVID-19) is a rare presentation. We present a case of a 20-year-old male patient who presented with conjunctivitis for 3 days and diagnosed on the same day with COVID-19 without other manifestations. Conjunctivitis affected both eyes and resolved over 2 weeks with artificial tears only and without any ocular complications. Conjunctivitis can be the only sign and symptom of COVID-19 in some patients. Therefore, healthcare providers, particularly ophthalmologists, should take precautions when dealing with patients presenting with conjunctivitis amid the COVID-19 pandemic.
The Mysterious Whistling Breath: Foreign Body Aspiration
Authors: Sobhashinni Chandran, Boon Chye Gan, Bee-See Goh
Journal: Cureus (2023)
Keywords: bronchi, bronchoscopy, emergencies, foreign bodies, otorhinolaryngology
MeSH terms: Case Reports

Foreign body aspiration is commonly seen in the pediatric age group and can be a life-threatening condition. Typical presentations include coughing, wheezing, and choking and can often masquerade as asthma causing misdiagnosis and treatment delay. Most of the time, the actual aspiration event is unnoticed, and patients may remain asymptomatic until they present with recurrent infections with or without positive radiological findings. Aspirated objects tend to migrate distally, and organic objects may induce edema and inflammation. Diagnosis is crucial as near-total or total obstruction of the airway may cause asphyxia and, subsequently, death if no immediate intervention is taken.
Case Report: Extramedullary Acute Promyelocytic Leukemia: An Unusual Case and Mini-Review of the Literature
Authors: Dennis Christoph Harrer, Florian Lüke, Ingo Einspieler, Karin Menhart, Dirk Hellwig, Kirsten Utpatel, Wolfgang Herr, Albrecht Reichle, Daniel Heudobler
Journal: Front Oncol (2022)
Keywords: pml-rara rearrangement, acute promyelocytic leukemia, chloroma, myeloid sarcoma, normal blood counts
MeSH terms: Case Reports

Background:
Acute promyelocytic leukemia (APL) constitutes a serious hematological emergency necessitating rapid diagnosis and therapy to prevent lethal bleedings resulting from APL-induced thrombocytopenia and coagulopathy. Atypical manifestations of APL, such as extramedullary disease at first presentation, pose diagnostic challenges and delay the onset of appropriate therapy. Nevertheless, extramedullary manifestations of APL are mostly accompanied by blood count alterations pointing to an underlying hematological disease. In this report, we present the first case of APL bearing close resemblance to a metastasized laryngeal carcinoma with normal blood counts and absent coagulopathy.
Case presentation:
A 67-year-old man with a previous history of smoking was admitted to our hospital with progressive hoarseness of voice, odynophagia, dysphagia and exertional dyspnea. Laryngoscopy revealed a fixed right hemi larynx with an immobile right vocal fold. Imaging of the neck via magnetic-resonance imaging (MRI) and positron emission tomography-computed tomography (PET/CT) with F-18-fluordeoxyglucose (FDG) showed a large hypermetabolic tumor in the right piriform sinus and tracer uptake in adjacent lymph nodes, highly suspicious of metastasized laryngeal carcinoma. Surprisingly the histological examination revealed an extramedullary manifestation of acute promyelocytic leukemia. Remarkably, blood counts and coagulation parameters were normal. Moreover, no clinical signs of hemorrhage were found. PML-RARA fusion was detected in both laryngeal mass and bone marrow. After diagnosis of APL, ATRA-based chemotherapy was initiated resulting in complete remission of all APL manifestations.
Conclusions:
This is the first case report of APL initially presenting as laryngeal chloroma. Additionally, we performed a comprehensive literature review of previously published extramedullary APL manifestations. In aggregate, a normal blood count at first presentation constitutes an extremely rare finding in patients initially presenting with extramedullary APL manifestations.
Tumor-induced osteomalacia caused by primary fibroblast growth factor 23 secreting neoplasm in axial skeleton: a case report
Authors: Gunjan Y Gandhi, Aashish A Shah, Kevin J Wu, Vivek Gupta, Ali Reza Shoraka
Journal: Case Rep Endocrinol (2012)

We report the case of a 66-year-old woman with tumor-induced osteomalacia (TIO) caused by fibroblast growth factor 23 (FGF-23) secreting mesenchymal tumor localized in a lumbar vertebra and review other cases localized to the axial skeleton. She presented with nontraumatic low back pain and spontaneous bilateral femur fractures. Laboratory testing was remarkable for low serum phosphorus, phosphaturia, and significantly elevated serum FGF-23 level. Magnetic resonance imaging (MRI) of the lumbar spine showed a focal lesion in the L-4 vertebra which was hypermetabolic on positron emission tomography (PET) scan. A computed tomography (CT) guided needle biopsy showed a low grade spindle cell neoplasm with positive FGF-23 mRNA expression by reverse transcriptase polymerase chain reaction (RT-PCR), confirming the diagnosis of a phosphaturic mesenchymal tumor mixed connective tissue variant (PMTMCT). The patient elected to have surgery involving anterior resection of L-4 vertebra with subsequent normalization of serum phosphorus. Including the present case, we identified 12 cases of neoplasms localized to spine causing TIO. To our knowledge, this paper represents the first documented case of lumbar vertebra PMT causing TIO. TIO is a rare metabolic bone disorder that carries a favorable prognosis. When a lesion is identifiable, surgical intervention is typically curative.
Reconstruction of Severely Atrophied Mandible and Simultaneous Implant Insertion with an Inverted Sandwich Technique
Authors: Milad Etemadi Sh, Alireza Tamizifar, Fatemeh Aghajani, Mahshad Saei
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

Objectives:
To reconstruct and rehabilitate a severely atrophied mandible. Case presentation. A 40-year-old female patient with the chief complaint of denture instability was admitted to our care. In our opinion, the optimum reconstructive method for their severely atrophied mandible (width of 4 mm) was bone grafting with an inverted sandwich technique. 2 split-thickness autogenous calvarial grafts were attained. 4 onlay bone blocks were prepared, placed with an inverted sandwich technique, and fixed with 8 lag screws. 4 implants (Osstem, ⌀4×10 mm) were placed simultaneously, and an immediate post-operation cone beam computed tomography confirmed the proper placement of the grafts and implants. No complications were reported within 4 and 8 months following graft and implant placement. Final impressions for full dental rehabilitation were taken at the 8-month follow-up.
Conclusion:
Split-thickness calvarial grafts and simultaneous implant placement seem to be a very efficient and promising approach for major reconstruction of the mandible. However, further studies are recommended.