A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia by Lei Zhang, Linda D. Cooley, Sonal R. Chandratre, Atif Ahmed, Jill D. Jacobson

“…Molecular analysis revealed compound heterozygous mutations in the 21-hydroxylase gene (CYP21A2), confirming the diagnosis of CAH. Chromosome analysis revealed sex chromosome mosaicism with three cell lines: 45,X[8]/45,X,tas(Y;16)(p11.32;p13.3)[8]/45,X,t(Y;8)(p11.32;p23.3)[4] with the Y chromosome in telomere association with chromosomes 8p and 16p in different cell lines, a “jumping translocation.” …”
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Severe Diabetic Ketoacidosis in Children with Type 1 Diabetes: Ongoing Challenges in Care by Simone Foti Randazzese, Mariarosaria La Rocca, Bruno Bombaci, Alessandra Di Pisa, Elèna Giliberto, Teresa Inturri, Daniel Militi, Fortunato Lombardo, Eloisa Gitto, Giuseppina Salzano, Stefano Passanisi

“…Several prevention strategies, including awareness campaigns, early diagnosis of diabetes, regular monitoring and management, effective insulin therapy, education, access to healthcare and technological assistance, may contribute to reduce the risk of severe diabetic ketoacidosis episodes in children and adolescents.…”
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A case of neuronal intranuclear inclusion disease (NIID) presenting with hydrocephalus-like clinical features: case report by Yonghong Wang, Yongxiang Li, Wei Pan, Yuezhen Shen, Junxia Li, Ying Liu, Yuhua Peng, Shulai Zhu

“…Genetic testing revealed 91 GGC repeats in the NOTCH2NLC gene, indicating abnormal expansion. The final diagnosis was NIID. We provided symptomatic treatment for the tremor and cognitive impairment, but there was no significant improvement in the clinical symptoms. …”
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PAROXYSMAL NOCTURNAL HEMOGLOBINURIA (PNH) DENGAN HYPERCOAGULABLE STATE by Fitrach Desfiyanda, Irza Wahid

“…Pada pasien ini telah dapat ditegakkan diagnosis sebagai PNH dengan beberapa gejala dan tanda yang patognomonis disertai pemeriksaan gold standar CD 55 dan CD 59. . …”
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Development of a Novel Sensor System Based on Magnetic Microspheres to Detect Cardiac Troponin T by Junrong Zhang, Hongxiang Liu, Baofeng Xu, Sijun Huang, Rui Liu, Jinming Zhu, Yi Guo, Li Xu

“…Thus, the proposed sensor improves the accuracy and efficiency of diagnosis before clinical deterioration of AMI.…”
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Probable Pulmonary Blastomycosis in a Wild Coyote (Canis latrans) by Luis E. Rodríguez-Tovar, Alicia M. Nevárez-Garza, Ricardo Vladimir Barajas-Juárez, Juan J. Zarate-Ramos, Rogelio A. Ledezma-Torres, Armando Trejo-Chávez

“…Based on the microscopic findings of the pulmonary lesions and the morphological features of the organism, a diagnosis of chronic pyogranulomatous pneumonia caused by Blastomyces dermatitidis was made. …”
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Choroidal Detachment after XEN Gel Stent Implantation by Carlo Alberto Cutolo, Letizia Negri, Sara Olivari, Francesca Cappelli, Carlo Enrico Traverso, Michele Iester

“…The mean intraocular pressure (IOP) at the time of CD diagnosis was 6.4 ± 3.1 mmHg. Age (OR = 1.10, p<0.019), early postoperative IOP (OR = 0.70, p<0.001), and number of preoperative IOP-lowering drugs (OR = 5.70, p<0.001) were significantly associated with CD presence. …”
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Sporadic ALS hiPSC-derived motor neurons show axonal defects linked to altered axon guidance pathways by Lisha Ye, Katarina Stoklund Dittlau, Adria Sicart, Rekin'’s Janky, Philip Van Damme, Ludo Van Den Bosch

“…Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by the selective and progressive loss of motor neurons, leading to gradual paralysis and death within 2 to 5 years after diagnosis. The exact underlying pathogenic mechanism(s) remain elusive. …”
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An optimized method for counting viral particles using electron microscopy by B. N. Zaitsev, O. S. Taranov, N. B. Rudometova, N. S. Shcherbakova, A. A. Ilyichev, L. I. Karpenko

“…Usually, such sensitivity is insufficient and can result in error diagnosis. This study aims to develop a method making it possible to detect the number of viral particles more precisely and work with samples in which the concentration of particles is lower than 107/ml. …”
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Assessment of Coverage and Quality of Selected Clinical Chemistry Tests among Medical Laboratories of Health Facilities in Jimma Zone, South West Ethiopia by Aklilu Getachew, Waqtola Cheneke, Yaregal Asres, Shiferaw Bekele, Estifanos Kebede

“…Medical laboratories play essential roles in measurement of analyte in clinical sample for the diagnosis and monitoring of diseases. Thus, data generated from the laboratory have to be reliable for which strict quality assurance is maintained. …”
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Assessing the impact of long-term inhaled corticosteroid therapy on patients with COVID-19 and coexisting chronic lung disease: A multicenter retrospective cohort study by Adela Pina Belmonte, Manuel Madrazo, Laura Piles, Manuel Rubio-Rivas, Lucía de Jorge Huerta, María Gómez Antúnez, Juan Francisco López Caleya, Francisco Arnalich Fernández, Martin Gericó-Aseguinolaza, Paula Maria Pesqueira Fontan, Nicolás Rhyman, Marina Prieto Dehesa, Juan Luis Romero Cabrera, Gema María García García, Gonzalo García-Casasola, Ane Labirua-Iturburu Ruiz, Francisco Javier Carrasco-Sánchez, Sara Martínez Hernández, Maria de los Reyes Pascual Pérez, José López Castro, José Luis Serrano Carrillo de Albornoz, José F. Varona, Ricardo Gómez-Huelgas, Juan-Miguel Antón-Santos, Carlos Lumbreras-Bermejo

“… # Results Two thousand five hundred ninety-eight patients were included, of which 1,171 patients had a diagnosis of asthma and 1,427 of COPD (53.37% and 41.41% with ICS, respectively). …”
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Evaluation of Clinical and Radiographic Findings among Patients with Traumatic Dental Injuries Seeking Delayed Treatment by Sanjeeb Chaudhary, Harender Singh, Archana Gharti, Bhawana Adhikari

“…Clinical findings analyzed were the type of fracture, type and number of injured teeth, crown discoloration, and pulpal status of the injured tooth (pulpal diagnosis). The radiographic findings analyzed included pulp canal obliteration (PCO), root resorption (RR), and periapical radiolucency (PR). …”
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CAN WE PREDICT INCIPIENT DIABETES MELLITUS IN PATIENTS WITH TRANSFUSION DEPENDENT β-THALASSEMIA (β-TDT) REFERRED WITH A HISTORY OF PREDIABETES? by Vincenzo De Sanctis, Ashraf Soliman, Shahina Daar, Ploutarchos Tzoulis, Christos Kattamis

“…Methods: The ADA criteria for the diagnosis of glucose dysregulation were adopted. Investigations included evaluation of plasma glucose levels and insulin secretion, analysis of glycemic trajectories and indices of β-cell function and insulin sensitivity/resistance assessed in steady state and during OGTT. …”
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Qualitative and quantitative agreement research on three diagnostic methods for maxillary transverse discrepancy by Zhang Ningbo, Wang Tianxiao, Yan Feng, Chen Rui, Fu Xinyu, Ren Liling

“…For patients with skeletal class I and class II malocclusion, it is recommended to use AEA and UPA for MTD diagnosis.…”
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Investigating neutropenic enterocolitis: a systematic review of case reports and clinical insights by Samane Nematolahi, Ali Amanati, Hossein Molavi Vardanjani, Mohammadreza Pourali, Mahnaz Hosseini Bensenjan, Farnoosh Nozari, Mohebat Vali, Seyed Reza Abdipour Mehrian, Seyed Ali Nabavizadeh, Farima Safari

“…It identifies typical clinical features and helps characterize risk factors and prognostic indicators to aid in the early diagnosis and management of this potentially lethal complication.…”
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Reexpansion Pulmonary Edema following Laparoscopy-Assisted Distal Gastrectomy for a Patient with Early Gastric Cancer: A Case Report by Kazuhito Yajima, Tatsuo Kanda, Ryo Tanaka, Yu Sato, Takashi Ishikawa, Shin-ichi Kosugi, Tadayuki Honda, Katsuyoshi Hatakeyama

“…Chest radiography results showed diffuse ground-glass attenuation and alveolar consolidation in both lungs without cardiomegaly. A diagnosis of pulmonary edema was made, and the patient was immediately intubated and received ventilatory support with high positive end-expiratory pressure. …”
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Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing by Xingwu Wu, Qiang Xu, Ge Chen, Jialyv Huang, Yanying Zhong, Lifeng Tian, Qiongfang Wu, Jia Chen

“…Nanopore sequencing can be a powerful tool for the genetic diagnosis of unexplained intellectual disability and the detection of precise breakpoints of chromosomal rearrangement in PGT-SR treatment.…”
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Predictive Factors and Clinical Prediction Score for Serious Intracranial Causes in Acute Nontraumatic Headache at an Emergency Department by Siriwimon Tantarattanapong, Lalita Chalongkulasak

“…The two groups were compared in regard to the baseline characteristics, clinical presentation, physical examination, investigation, and diagnosis. The significant factors to predict a serious intracranial cause were examined using a multivariate logistic regression model. …”
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Azathioprine Hypersensitivity Syndrome during Treatment of Severe Interstitial Lung Disease with Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis by Eri Nakano, Tomohiko Asakawa, Mea Asou, Eri Nohara, Tomoyuki Seki, Makoto Araki

“…Renal function and the pulmonary lesions are stable, although the high MPO-ANCA titer and hematuria persist. The diagnosis of azathioprine hypersensitivity is often delayed because of the difficulty in identifying the relationship between immunosuppressive agents and hypersensitivity and in distinguishing this from infection or relapse of the primary disease. …”
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Acceptability and feasibility of shared medical appointments to support self-management of anxiety and depression in primary care in England: a qualitative study of service user/pa... by Fiona Graham, Mei Yee Tang, Megan Hanrahan

“…We employed a deductive, theory-informed approach to thematically analyse the data.Participants The final sample consisted of 17 predominantly White ethnic adults with a clinical diagnosis of anxiety and/or depression from five different regions in England. …”
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