59,244 results match your criteria rare pulmonary


Alpha-1 antitrypsin deficiency hidden in allegedly normal variants.

J Asthma 2021 Jun 21:1-5. Epub 2021 Jun 21.

Immunology Department, Hospital Universitario Insulsar Gran Canaria Doctor Negrin, Las Palmas de Gran Canaria, Spain.

Rare variants of Alpha-1 antitrypsin (AAT) deficiency (AATD) have been described by the Spanish registry of patients with AATD. The great majority of these rare variants are Mmalton alleles and many recent case series of them have been identified in the Canary Islands. The objective of this study was to analyze the distribution of Mmalton mutations in a Canarian population previously studied for the most common deficient alleles, namely PI*S (S) and PI*Z (Z), with PI*M (M) being the normal variant. Read More

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CD34-negative Solitary Fibrous Tumor: A Clinicopathologic Study of 25 Cases and Comparison With Their CD34-positive Counterparts.

Am J Surg Pathol 2021 Apr 7. Epub 2021 Apr 7.

Department of Pathology, Robert J. Tomsich Pathology & Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH.

CD34-negative solitary fibrous tumors (SFTs) are rare and have not been comprehensively studied. We retrospectively reviewed all cases of SFT confirmed with STAT6 immunohistochemistry and/or STAT6 gene fusion between 2013 and 2020 and collected pertinent clinicopathologic parameters. Of a total of 244 cases, 25 (10%) lacked CD34 expression by immunohistochemistry. Read More

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A challenging case of SARS-CoV-2- AIDS and Nocardiosis coinfection from the SMatteo COvid19 REgistry (SMACORE).

New Microbiol 2021 May 21;44(3). Epub 2021 May 21.

Division of Infectious Diseases I, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

The COVID-19 pandemic is posing an unprecedented threat worldwide. One issue that has faltered, though, concerns the underestimated risk to trade all for COVID-19, misdiagnosing other potentially life-threatening diseases. Further still, the presence of respiratory symptoms in AIDS patients should stimulate more vigilant efforts to uncover other or additional infections. Read More

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Increased Efficacy of Whole Lung Lavage Treatment in Alveolar Proteinosis Using a New Modified Lavage Technique.

J Bronchology Interv Pulmonol 2021 Jul;28(3):215-220

ILD Center of Excellence, Departments of Pulmonary Diseases.

Background: Autoimmune pulmonary alveolar proteinosis is an ultra-rare pulmonary disease. Whole lung lavage (WLL) is considered the gold standard therapy. We report a protocol for a new modified lavage technique (nMLT) in which controlled repetitive manual hyperinflation (MH) and intermittent chest percussion are used to enhance WLL efficacy. Read More

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Hepatocyte proteomes reveal the role of protein disulfide isomerase 4 in alpha 1-antitrypsin deficiency.

JHEP Rep 2021 Aug 24;3(4):100297. Epub 2021 Apr 24.

University of Bordeaux, CNRS, INSERM, BaRITOn, U1053, Bordeaux, France.

Background & Aims: A single point mutation in the Z-variant of alpha 1-antitrypsin (Z-AAT) alone can lead to both a protein folding and trafficking defect, preventing its exit from the endoplasmic reticulum (ER), and the formation of aggregates that are retained as inclusions within the ER of hepatocytes. These defects result in a systemic AAT deficiency (AATD) that causes lung disease, whereas the ER-retained aggregates can induce severe liver injury in patients with ZZ-AATD. Unfortunately, therapeutic approaches are still limited and represents the option To overcome this limitation, a better understanding of the molecular basis of ER aggregate formation could provide new strategies for therapeutic intervention. Read More

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Primary mucinous adenocarcinoma of the thymus; a rare type of thymic carcinoma. Case Report.

SN Compr Clin Med 2021 May 6;3(5):1233-1237. Epub 2021 Mar 6.

Department of Surgical Oncology, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki 852-8501, Japan.

Mucinous adenocarcinoma of the thymus is a particularly rare type among thymic carcinomas. Here, we report a patient who underwent complete surgical resection of the primary mucinous adenocarcinoma of the thymus. She was 74 years old and presented with a 60-mm multilocular cystic tumor in her right anterior mediastinum. Read More

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infection in a non-cystic fibrosis patient: an arcane presentation.

Access Microbiol 2021 15;3(4):000222. Epub 2021 Apr 15.

Department of Microbiology, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.

Introduction: is an aerobic, Gram-negative bacillus, which exhibits innate resistance to multiple antibiotics and disinfectants. Although it is a chronic colonizer of the respiratory tract, it may rarely present with fatal necrotizing pneumonia-like features in immunosuppressed individuals, as those with chronic granulomatous disease, or patients with significant pulmonary compromise, like cystic fibrosis.

Case Presentation: A 76-year-old male presented with complaints of breathlessness, cough with mucoid expectoration and fever for 3 days. Read More

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Primary Tuberculosis of Tonsil Mimicking Carcinoma Tonsil.

Indian J Otolaryngol Head Neck Surg 2021 Jun 10;73(2):257-259. Epub 2020 Mar 10.

Department of Otorhinolaryngology and Head and Neck and Surgery, Yashodha Hospital, Hyderabad, India.

Tuberculosis is one of the major causes of ill health and death worldwide. Primary tuberculosis of the oral cavity and oropharynx is usually uncommon. Among tuberculosis of oral cavity and oropharynx, primary tuberculosis of tonsil in the absence of active pulmonary tuberculosis is a very rare clinical entity which presents difficulties in diagnosis because of similarity of presentation of carcinoma tonsil. Read More

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Clinical Features and Prognosis of Invasive Ventilation in Hospitalized Patients with COVID-19: A Retrospective Study.

Anesth Pain Med 2020 Dec 19;10(6):e108773. Epub 2020 Dec 19.

Rasoul Akram Hospital Clinical Research Development Center ( RCRDC), Tehran, Iran.

Background: World Health Organization (WHO) declared that the outbreak of COVID-19 constituted a public health emergency of global concern.

Objectives: Owing to limited data on critically ill patients admitted to ICU, we aimed to describe the clinical characteristics and prognosis of these patients based on ventilatory variables and clinical features.

Methods: In this retrospective study, 45 critically ill patients with laboratory-confirmed COVID-19 who were admitted to Intensive Care Unit (ICU) wards of the hospital from April 8 to May 9, 2020, were enrolled. Read More

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December 2020

Disseminated Armillifer armillatus Infestation: A Rare Cause of Acute Abdomen.

Cureus 2021 May 15;13(5):e15038. Epub 2021 May 15.

Cancer Imaging, University of Hull, Hull, GBR.

We report a case of an 80-year-old symptomatic female with severe visceral infestation who presented with complaints of progressively worsening colicky abdominal pain with associated constipation and mild abdominal distension. Imaging workup demonstrated unique radiological features of the parasite including multiple curvilinear opacities, measuring approximately 3 to 6 mm in length, scattered in the lung fields, abdomen, pelvis, and inguinal region. Histologic examination of inguinal biopsies revealed enlarged lymph nodes containing several parasitic pseudocysts. Read More

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Primary Spontaneous Pneumothorax in a 32-Week Complicated Pregnancy.

Cureus 2021 May 15;13(5):e15037. Epub 2021 May 15.

Obstetrics and Gynecology, General Hospital of Nikaia "Agios Panteleimon", Piraeus, GRC.

Primary spontaneous pneumothorax during pregnancy is a very rare entity. We present a 37-year-old Caucasian woman with spontaneous pneumothorax during the 32nd week of her fourth pregnancy who was treated with intercostal chest drain and was followed up with chest ultrasound. The patient experienced two more episodes of recurrent pneumothorax during pregnancy and puerperium and a uniportal video-assisted thoracoscopic surgery (VATS) was performed. Read More

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Bronchopleural fistula in a 5- years old child with novel CARMIL 2 mutation: A rare disease and a rare case.

Ann Med Surg (Lond) 2021 Jun 6;66:102443. Epub 2021 Jun 6.

Department of Pediatric Thoracic Surgery and Intensive Care Medicine, Infectious Disease, and Immunology, Maternity and Children Hospital, Dammam, Saudi Arabia.

A five year girl had eczema and allergic rhinitis in the past, presented with a history of cough, shortness of breath for the last one month. Her chest -X-ray showed a left side pleural effusion, and a computed tomographic scan (CT) of the chest showed left side hydropneumothorax. Left side 21 Fr drain was inserted. Read More

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Giant cavity pulmonary lesion and pneumothorax simultaneously following COVID-19 pneumonia.

Radiol Case Rep 2021 Jun 14. Epub 2021 Jun 14.

Nephrology and Urology Research Center, Baqiyatallah University of Medical Sciences, Tehran.

Cavitary lung formation with spontaneous pneumothorax has been rarely reported as a complication of COVID-19 pneumonia. We report a rare case of a 38 years-old male patient affected by COVID-19 pneumonia, exceptionally complicated by a simultaneous giant cavity in the right upper lung and a small right pneumothorax in the right hemithorax. Whilst pneumothorax emphysema, giant bullae and pneumothorax with alveolar rupture are known to potentially develop in COVID-19 patients as a result of high-flow O support, the exact origin of the giant lung cavitation in our patient could be not confirmed. Read More

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Case Report: A Rare Case of Metachronous Multiple Primary Lung Cancers in a Patient With Successful Management by Switching From Anti-PD-1 Therapy to Anti-PD-L1 Therapy.

Front Immunol 2021 2;12:683202. Epub 2021 Jun 2.

State Key Laboratory of Respiratory Disease, National Clinical Research Centre for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.

Without global standard diagnostic criteria, distinguishing multiple primary lung cancers (MPLCs) from intrapulmonary metastasis or histologic transformation has been a big challenge in clinical practice. Here, we described a rare case of metachronous adenocarcinoma and small cell lung cancer (SCLC) in a patient who developed drug resistance to pembrolizumab. Both DNA-sequencing and RNA-sequencing were performed on primary adenocarcinoma and resistant lesions. Read More

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Continuous Complete Remission in Two Patients with Acute Lymphoblastic Leukemia and Severe Fungal Infection Following Short-Term, Dose-Reduced Chemotherapy.

Front Pharmacol 2021 2;12:599552. Epub 2021 Jun 2.

Department of Internal Medicine III, Hematology and Oncology, University Hospital of Regensburg, Regensburg, Germany.

Spontaneous remission in acute lymphoblastic leukemia (ALL) is a rare phenomenon, which typically involves a pattern of feverish or septic disease followed by quick but mostly transient remission. We report on two male patients (46-year-old (pt. 1) and 19-year-old (pt. Read More

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Spontaneous Regression of Small Cell Lung Carcinoma and Associated Hemichorea.

Intern Med 2021 Jun 19. Epub 2021 Jun 19.

Department of Medicine, Tokyo Women's Medical University Medical Center East, Japan.

The spontaneous regression (SR) of cancer is defined as either partial or complete, and temporary or permanent, disappearance without appropriate treatment for the disease, and this phenomenon is rare in the case of small cell lung carcinoma (SCLC). We herein report an 83-year-old woman who presented with left-sided hemichorea associated with anti-SOX1 (SOX1-Ab) and -CV2/CRMP5 (CV2/CRMP5-Ab) antibodies with SR following a 7-year interval free of disease progression of SCLC. Hemichorea can present with the coexistence of anti-SOX1 and CV2/CRMP5-Ab with SR after a long interval free of SCLC. Read More

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Pulmonary complications in children with Down syndrome: A scoping review.

Paediatr Respir Rev 2021 May 5. Epub 2021 May 5.

Department of Pediatrics, Antwerp University Hospital, Drie Eikenstraat 655, 2650 Edegem, Belgium; Laboratory of Experimental Medicine and Pediatrics (LEMP), Antwerp University, Belgium.

Context: Down syndrome (DS) is a prevalent chromosomal disorder associated with a wide range of congenital anomalies and other health problems.

Objectives: To give a scoping overview of encountered lower airway problems (both infectious and non-infectious) in DS children.

Data Sources: We systematically searched the MEDLINE and PubMed databases for relevant publications. Read More

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Recurrent Chylous Ascites Leading to Transudative Chylothorax Due to Bi-Ventricular Heart Failure.

J Investig Med High Impact Case Rep 2021 Jan-Dec;9:23247096211026144

Appalachian Regional Healthcare, Internal Medicine Residency Program, Harlan, KY, USA.

Chylothorax is a pleural effusion of >110 mg/dL of triglycerides with a milky appearance with transudative being rare. In this article, we present a case of transudative chylothorax with concurrent chylous ascites that is secondary to congestive heart failure (CHF). A 70-year-old male with CHF with ejection fraction of 10%, coronary artery disease status post coronary artery bypass graft, sleep apnea, chronic kidney disease stage 3, and chronic obstructive pulmonary disease presented with worsening abdominal distention, shortness of breath, and increased lower extremities edema. Read More

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A case of severe allergic eosinophilic asthma with nasal polyposis in a patient affected by Birt-Hogg-Dubè syndrome successfully treated with benralizumab.

Eur Ann Allergy Clin Immunol 2021 Jun 18. Epub 2021 Jun 18.

Department of Medical and Surgical Sciences, University of Foggia, Ospedali Riuniti c/o Colonnello D'Avanzo, Foggia, Italy.

Summary: Birt-Hogg-Dubè (BHD) syndrome is a rare genetic pathology characterized by cutaneous fibrofolliculomas, pulmonary cysts and kidney tumours. Severe asthma is the most serious form of asthma that does not respond to standard treatments. We present the case of a 68 years-old male patient who had frequent respiratory tract infections, shortness of breath and decline in lung function, nasal polyposis and hypertrophy of the nasal turbinates, for this reason was treated as a severe asthmatic patient for several years with ICS + LABA and high doses of OCS. Read More

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[Girl with hypersensitivity pneumonitis. A case report].

Rev Alerg Mex 2021 Jan-Mar;68(1):84-88

Hospital Universitario La Paz, Servicio de Alergología, Madrid, España.

Background: Hypersensitivity pneumonitis entails several inflammatory lung diseases that preferentially affect the alveolar and perialveolar tissue. It is a very rare disease in children, with a complicated diagnosis due to the fact that antigen exposure usually goes unnoticed.

Case Report: A 12-year-old girl with dry cough, dyspnea, wheezing, and tachypnea, with partial improvement after treatment with inhaled bronchodilators and corticoids. Read More

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Analysis of Pulmonary Surgery in Children and Adolescents in Germany: Who Is doing What?

Eur J Pediatr Surg 2021 Jun 20. Epub 2021 Jun 20.

Department of Pediatric Surgery, Hannover Medical School, Hannover, Lower Saxony, Germany.

Introduction:  In Germany, pediatric surgery is organized in a decentralized manner. A nationwide clinical registry does not exist. The aim of this research is to analyze the current status of pulmonary surgery in the country in respect of children and adolescents. Read More

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Robotic-assisted hiatal hernia repair and pulmonary embolism: an institution-based retrospective cohort study.

J Robot Surg 2021 Jun 19. Epub 2021 Jun 19.

Department of Surgery, St. Luke's University Health Network, Bethlehem, PA, USA.

Hiatal hernia (HH) is an abnormal protrusion of components of the abdominal viscera through the esophageal hiatus. The laparoscopic approach is the gold standard for repair with the robotic technique now gaining wide acceptance. Pulmonary embolism (PE) is a well-known post-operative complication but its incidence following robotically assisted HH repairs is not well known. Read More

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Altered EEG markers of synaptic plasticity in a human model of NMDA receptor deficiency: anti-NMDA receptor encephalitis.

Neuroimage 2021 Jun 17:118281. Epub 2021 Jun 17.

Department of Neuropediatrics and Children's Research Center, University Children's Hospital Zurich, 8032, Zurich, Switzerland. Electronic address:

Plasticity of synaptic strength and density is a vital mechanism enabling memory consolidation, learning, and neurodevelopment. It is strongly dependent on the intact function of N-methyl-D-aspartate receptors (NMDAR). The importance of NMDAR is further evident as their dysfunction is involved in many diseases such as schizophrenia, Alzheimer's disease, neurodevelopmental disorders, and epilepsies. Read More

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Follicular Dendritic Cell Sarcoma of the Chest.

Ann Thorac Surg 2021 Jun 17. Epub 2021 Jun 17.

Thoracic Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY. Electronic address:

Follicular dendritic cell sarcoma is a rare, low-grade cancer derived from follicular dendritic cells, which serve as accessory cells to the lymphoid system. Here, we describe the case of a 57-year-old man who had a mediastinal mass with aortic involvement incidentally identified during evaluation for indeterminate pulmonary nodules. The mass, later diagnosed as follicular dendritic cell sarcoma, was successfully treated with surgical resection aided by placement of endovascular aortic stent graft. Read More

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Maximal Wall Thickness Measurement in Hypertrophic Cardiomyopathy: Biomarker Variability and its Impact on Clinical Care.

JACC Cardiovasc Imaging 2021 Jun 16. Epub 2021 Jun 16.

Cardiovascular Division, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Objectives: The aim of this study was to define the variability of maximal wall thickness (MWT) measurements across modalities and predict its impact on care in patients with hypertrophic cardiomyopathy (HCM).

Background: Left ventricular MWT measured by echocardiography or cardiovascular magnetic resonance (CMR) contributes to the diagnosis of HCM, stratifies risk, and guides key decisions, including whether to place an implantable cardioverter-defibrillator (ICD).

Methods: A 20-center global network provided paired echocardiographic and CMR data sets from patients with HCM, from which 17 paired data sets of the highest quality were selected. Read More

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Recent updates in thoracic SMARCA4-deficient undifferentiated tumor.

Semin Diagn Pathol 2021 Jun 4. Epub 2021 Jun 4.

Department of Pathology, All India Institute of Medical Sciences, New Delhi, India. Electronic address:

Germline inactivating mutations in SMARCA4 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4) gene encoding for BRG1 (Brahma related gene-1) are the molecular drivers in small cell carcinoma of ovary, hypercalcemic type (SCCOHT) and in malignant rhabdoid tumors (MRT) that occur in the context of rhabdoid tumor predisposition syndrome-type 2. Somatic SMARCA4 mutations and/or loss of BRG1 have been identified in a variety of adult-onset epithelial and mesenchymal neoplasms. Among thoracic tumors, these include subsets of smoking-related non-small cell lung carcinoma (NSCLC) and a relatively rare, newly recognised tumor entity: thoracic SMARCA4-deficient undifferentiated tumor (SMARCA4-UT). Read More

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[Genetic study of cardiovascular disease subtypes defined by International Classification of Diseases].

Beijing Da Xue Xue Bao Yi Xue Ban 2021 Jun;53(3):453-459

Department of Global Health, School of Public Health, Peking University 100191, China.

Objective: To study the molecular connection among cardiovascular diseases (CVD) subtypes defined by the International Classification of Diseases (ICD) version 10 (ICD-10).

Methods: Both phenotypic data and genotypic data used in this study were obtained from the UK Biobank. A total of 380 083 participants aged between 40 and 69 years were included. Read More

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Upper extremity arterial thromboembolism in a patient with severe COVID-19 pneumonia: A case report.

Jt Dis Relat Surg 2021 11;32(2):551-555. Epub 2021 Jun 11.

Gümüşhane Devlet Hastanesi Ortopedi ve Travmatoloji Kliniği, 29000 Gümüşhane, Türkiye.

Although novel coronavirus-2019 (COVID-19) primarily affects the respiratory system, it can affect multiple organ systems, leading to serious complications, such as acute respiratory distress syndrome (ARDS) and multiple organ failure. Nearly 20 to 55% of patients with COVID-19 experience coagulation disorders that cause high mortality in line with the severity of the clinical picture. Thromboembolism can be observed in both venous and arterial systems. Read More

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Influenza virus infection expands the breadth of antibody responses through IL-4 signalling in B cells.

Nat Commun 2021 06 18;12(1):3789. Epub 2021 Jun 18.

Laboratory for Cytokine Regulation, Research Center for Integrative Medical Sciences (IMS), RIKEN Yokohama Institute, Yokohama, Kanagawa, Japan.

Influenza viruses are a major public health problem. Vaccines are the best available countermeasure to induce effective immunity against infection with seasonal influenza viruses; however, the breadth of antibody responses in infection versus vaccination is quite different. Here, we show that nasal infection controls two sequential processes to induce neutralizing IgG antibodies recognizing the hemagglutinin (HA) of heterotypic strains. Read More

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A 64-Year-Old Man with Traumatic Right Middle Lobe Lung Herniation Successfully Managed Conservatively.

Am J Case Rep 2021 Jun 19;22:e931446. Epub 2021 Jun 19.

Section of Diagnostic Radiology, School of Medicine, University of Puerto Rico (UPR) Medical Sciences Campus, San Juan, Puerto Rico.

BACKGROUND Intercostal lung hernias can be congenital or acquired and involve a protrusion of lung tissue beyond the thoracic cage. Post-traumatic intercostal lung hernias can present with symptoms of pain and dyspnea or can be asymptomatic. This report is of a case of traumatic right middle lobe lung herniation through the intercostal junction of the fourth and fifth ribs in a 64-year-old man that was successfully managed conservatively. Read More

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