scholarly journals Case series of Pulmonary Alveolar Microlithiasis from India

2019 ◽  
Vol 12 (3) ◽  
pp. e227406 ◽  
Author(s):  
Manu Chopra ◽  
Manjit Sharad Tendolkar ◽  
Vasu Vardhan
Keyword(s):  
Rare Disease ◽  
Clinical Symptoms ◽  
Case Series ◽  
Lung Parenchyma ◽  
Response To Treatment ◽  
Definitive Treatment ◽  
Alveolar Type ◽  
Pulmonary Alveolar Microlithiasis ◽  
Alveolar Microlithiasis ◽  
Calcific Deposits

Pulmonary alveolar microlithiasis (PAM) is a rare disease characterised by calcific deposits in lung parenchyma. PAM being a progressive disease with dissociation between severity of clinical symptoms and radiological picture, it is often detected incidentally. Mutations in the SLC34A2 gene encoding the type IIb sodium phosphate cotransporter in alveolar type II cells are considered to be involved in the pathogenesis of PAM. The majority of the patients are diagnosed usually between the ages of 20 and 40 years, although paediatric PAM has also been reported. Diagnosis is confirmed by combination of radiological features, bronchial lavage and histopathological testing. At present, lung transplant is the only definitive treatment available. Though rare, the prevalence of PAM is worldwide. Till June 2018, 86 cases have been reported from India and 1042 cases have been reported worldwide. We report three cases from India, including a student, cement factory worker and a tailor, which will highlight the varied clinical and radiological presentations of this rare disease along with the response to treatment.

scholarly journals A Case Series of 100 COVID-19 Positive Patients Treated with Combination of Ivermectin and Doxycycline

2020 ◽  
pp. 10-15 ◽  
Author(s):  
Mohammed Tarek Alam ◽  
Rubaiul Murshed ◽  
Elias Bhiuyan ◽  
Sadia Saber ◽  
Rafa Faaria Alam ◽  
...  
Keyword(s):  
Case Series ◽  
Viral Clearance ◽  
Response To Treatment ◽  
Definitive Treatment ◽  
Rt Pcr ◽  
National Guidelines ◽  
Exclusion Criteria ◽  
Government Hospitals ◽  
Human Death

Background: A definitive treatment of SARS CoV-2 is yet to arrive and the human death toll rises exponentially globally. In this health emergency, it might be useful to look into the old therapies which could be effective against the virus. In vitro research showed Ivermectin could decrease the concentration of coronavirus 4000 to 5000 folds in living lung tissue. Aim: In this prospective study a combination of Ivermectin and Doxycycline will be evaluated therapeutically to treat COVID-19 patients. Methods: 100 COVID-19 patients were enrolled in this study with a predefined inclusion and exclusion criteria. RT- PCR of the SERS-CoV-2 will be done at designated government hospitals. The clinical features and response to treatment were noted according to a dedicated protocol. Results: In this study male and female were 64 and 36 respectively, the age ranged between 8 to 84 years. Retesting was done between 4 and 18 days of starting medication. All patients tested negative and their symptoms improved within 72 hours. There were no noticeable side effects. Conclusion: Combination of Ivermectin and doxycycline was found to be very effective in viral clearance in mild and moderately sick COVID-19 patients. Medical societies and institutions should undertake larger multi center studies to validate and recommend this combination therapy to include in national guidelines. J Bangladesh Coll Phys Surg 2020; 38(0): 10-15

scholarly journals Pulmonary Alveolar Microlithiasis: CT and pathologic findings in 10 patients

2005 ◽  
Vol 63 (1) ◽  
Author(s):  
H. Sumikawa ◽  
T. Johkoh ◽  
N. Tomiyama ◽  
S. Hamada ◽  
M. Koyama ◽  
...  
Keyword(s):  
Rank Correlation ◽  
Lung Parenchyma ◽  
Ground Glass ◽  
Pulmonary Alveolar Microlithiasis ◽  
Ct Findings ◽  
Ground Glass Attenuation ◽  
Pathologic Findings ◽  
Kappa Value ◽  
Autopsy Specimens ◽  
Alveolar Microlithiasis

Background and Aim. To evaluate CT findings of pulmonary alveolar microlithiasis and correlate the CT with the pathologic findings. Methods. The study included 10 patients with pathologically proven microlithiasis. Two independent observers evaluated the presence, extent and distribution of the CT findings. CT findings were compared with those at autopsy in two patients and with transbronchial biopsy in eight patients. Results. All patients had a myriad of calcified nodules measuring approximately 1 mm in diameter. Close apposition of the nodules resulted in areas of ground-glass attenuation and consolidation, which were the predominant abnormality on CT in all 10 patients, involving 41% ± 16.3 (mean ± SD) and 30% ± 4.8 of the lung parenchyma, respectively. Calcifications were also seen along interlobular septa, bronchovascular bundles and pleura. Other findings included interlobular septal thickening, thickening of bronchovascular bundles, nodules, and subpleural cysts. There was a solid agreement between the observers for the presence (kappa value; 0.77) and extent (Spearman rank correlation; r= 0.81 to 1.0 p<0.01) of abnormalities. Autopsy specimens demonstrated microliths in alveolar airspaces and along interlobular septa, bronchovascular bundles and pleura. Subpleural small cysts were shown to represent dilated alveolar ducts. Conclusion. Pulmonary microlithiasis is characterised by the presence of numerous small, calcified nodules, calcifications along interlobular septa, bronchovascular bundles and pleura, ground-glass opacities, consolidation, and subpleural cysts. The cysts represent dilated alveolar ducts.

scholarly journals Pulmonary alveolar microlithiasis: review of the 1022 cases reported worldwide

2015 ◽  
Vol 24 (138) ◽  
pp. 607-620 ◽  
Author(s):  
Giuseppe Castellana ◽  
Giorgio Castellana ◽  
Mattia Gentile ◽  
Roberto Castellana ◽  
Onofrio Resta
Keyword(s):  
Clinical Course ◽  
Alveolar Type ◽  
High Resolution Computed Tomography ◽  
Gene Encoding ◽  
Pulmonary Alveolar Microlithiasis ◽  
Evolutionary Phase ◽  
Uncommon Disease ◽  
The Usa ◽  
Alveolar Microlithiasis

Pulmonary alveolar microlithiasis (PAM) is a rare disease characterised by the widespread intra-alveolar accumulation of minute calculi called microliths. It is caused by mutation of the SLC34A2 gene encoding the type IIb sodium phosphate cotransporter in alveolar type II cells. The present study explores the epidemiological, familial, genetic, clinical, diagnostic, radiological and therapeutic aspects with the aim of contributing to a better understanding of this uncommon disease.We searched articles on PAM published up to December 2014 and 544 papers were found, accounting for 1022 cases.PAM is present in all continents and in many nations, in particular in Turkey, China, Japan, India, Italy and the USA. Familiality is frequent. The clinical course is not uniform and the causes of this clinical variability seem to be largely nongenetic. The optimal diagnostic procedure is the association of chest high-resolution computed tomography (HRCT) with bronchoalveolar lavage, but a chest radiograph may suffice in families in which a case has already been diagnosed. Moreover, chest radiography and HRCT allow the classification of the evolutionary phase of the disease and its severity. At present lung transplantation is the only effective therapy. However, better knowledge of the gene responsible offers hope for new therapies.

scholarly journals Immunotherapies for the Treatment of Uveal Melanoma—History and Future

Cancers ◽  
2019 ◽  
Vol 11 (8) ◽  
pp. 1048 ◽  
Author(s):  
Schank ◽  
Hassel
Keyword(s):  
Rare Disease ◽  
Uveal Melanoma ◽  
Case Series ◽  
Standard Of Care ◽  
Definitive Treatment ◽  
Tumor Control ◽  
Standard Of Care Treatment ◽  
One Year ◽  
Almost All

: Background: Uveal melanoma is the most common primary intraocular malignancy among adults. It is, nevertheless, a rare disease, with an incidence of approximately one case per 100,000 individuals per year in Europe. Approximately half of tumors will eventually metastasize, and the liver is the organ usually affected. No standard-of-care treatment exists for metastasized uveal melanoma. Chemotherapies or liver-directed treatments do not usually result in long-term tumor control. Immunotherapies are currently the most promising therapy option available. Methods: We reviewed both relevant recent literature on PubMed concerning the treatment of uveal melanoma with immunotherapies, and currently investigated drugs on ClinicalTrials.gov. Our own experiences with immune checkpoint blockers are included in a case series of 20 patients. Results: Because few clinical trials have been conducted for metastasized uveal melanoma, no definitive treatment strategy exists for this rare disease. The outcomes of most immunotherapies are poor, especially compared with cutaneous melanoma. However, encouraging results have been found for some very recently investigated agents such as the bispecific tebentafusp, for which a remarkably increased one-year overall survival rate, and similarly increased disease control rate, were observed in early phase studies. Conclusions: The treatment of metastatic uveal melanoma remains challenging, and almost all patients still die from the disease. Long-term responses might be achievable by means of new immunological strategies. Patients should therefore be referred to large medical centers where they can take part in controlled clinical studies.

scholarly journals Cytomegalovirus associated severe pneumonia in three liver transplant recipients

2020 ◽  
Vol 14 (11) ◽  
pp. 1338-1343
Author(s):  
Adem Kose ◽  
Murat Yalcinsoy ◽  
Emine Turkmen Samdanci ◽  
Bora Barut ◽  
Baris Otlu ◽  
...  
Keyword(s):  
Liver Transplant ◽  
Ct Scan ◽  
Clinical Symptoms ◽  
Clinical Sample ◽  
Quantitative Polymerase Chain Reaction ◽  
Case Series ◽  
Severe Pneumonia ◽  
Fold Increase ◽  
Lung Parenchyma ◽  
Bronchial Biopsy

Introduction: Cytomegalovirus (CMV), is the most common opportunistic infection, remains a cause of life-threatening disease and allograft rejection in liver transplant (LT) recipients. The purpose of this case series is to state that CMV may lead to severe pneumonia along with other bacteria. Methodology: CMV pneumonia was diagnosed with the thoracic computed tomography (CT) scan findings, bronchoscopic biopsy, real time quantitative Polymerase Chain Reaction (qPCR) and clinical symptoms. For extraction of CMV DNA from the clinical sample, EZ1 Virus Mini Kit v2.0 (Qiagen, Germany) was used, and aplification was performed with CMV QS-RGQ Kit (Qiagen, Germany) on Rotor Gene Q 5 Plex HMR (Qiagen, Germany) device. Results: All recipients had severe pneumonia, leukopenia, thrombocytopenia and at least two-fold increase in transaminases on seventh, twenty-eighth and twenty-second days after surgery, respectively. Thoracic CT scan revealed as diffuse interstitial infiltration in the lung parenchyma. Bronchoscopy, Gram-staining and culture from bronchoalveolar lavage (BAL) fluid were performed in all of them. During bronchoscopy, a bronchial biopsy was administered to two recipients. One recipient could not be performed procedure because of deep thrombocytopenia. PCR results were positive from serum and BAL fluid. Bronchial biopsy was compatible with CMV pneumonia. However, Pseudomonas aeruginosae was found in two cases and Klebsiella pneumoniae in one case BAL fluid cultures. Conclusions: CMV pneumonia can be seen simultaneously with bacterial agents due to the indirect effects of the CMV. It should be kept in mind that CMV pneumonia may cause severe clinical courses and can be mortal.

scholarly journals Pulmonary Alveolar Microlithiasis and Rheumatoid Arthritis: A Case Report and Review of the Literature

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Waleed Hafiz ◽  
Ahmedhusam Alahmed ◽  
Mohammed Alahmadi ◽  
Rakan Alotaibi ◽  
Abdullah Alsharif ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Autosomal Recessive ◽  
Lung Parenchyma ◽  
Systemic Autoimmune Disease ◽  
Pulmonary Alveolar Microlithiasis ◽  
Slow Progression ◽  
Autosomal Recessive Condition ◽  
Alveolar Microlithiasis ◽  
Synovial Membranes ◽  
Inflammatory Polyarthritis

Pulmonary alveolar microlithiasis is a rare autosomal recessive condition that is characterized by the formation of excessive calcium phosphate microliths in the alveoli. Most patients are diagnosed in adulthood due to the slow progression of the disease. Children with this disease are asymptomatic, and changes in the lung parenchyma are usually discovered incidentally. The diagnosis is made by the combination of a positive chest imaging and histological examination. Rheumatoid arthritis (RA) is a chronic systemic autoimmune disease characterized by chronic seropositive symmetrical inflammatory polyarthritis with numerous extra-articular manifestations. It targets the lining of the synovial membranes, frequently affects females more than males, and is treated with the disease-modifying antirheumatic drugs (DMARDs). If left untreated, it leads to increased morbidity, mortality, and socioeconomic burdens. In this case, we report a 19-year-old young man who presented with clinical and radiographic features of PAM associated with RA.

Pulmonary Alveolar Microlithiasis in Children: Case Series and Review of Literature

2011 ◽  
Vol 24 (4) ◽  
pp. 221-224
Author(s):  
Meenu Singh ◽  
Arushi G. Saini ◽  
Joseph Mathew ◽  
Uma Nahar ◽  
Kim Vaiphei
Keyword(s):  
Case Series ◽  
Review Of Literature ◽  
Pulmonary Alveolar Microlithiasis ◽  
Alveolar Microlithiasis

scholarly journals The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Tiziana Vaisitti ◽  
Daniela Peritore ◽  
Paola Magistroni ◽  
Andrea Ricci ◽  
Letizia Lombardini ◽  
...  
Keyword(s):  
Rare Disease ◽  
Organ Failure ◽  
Rare Diseases ◽  
Clinical Symptoms ◽  
Specific Treatment ◽  
Disease Diagnosis ◽  
Definitive Treatment ◽  
Transplant Recipients ◽  
Monogenic Diseases ◽  
Lung Transplants

Abstract Background Rare diseases are chronic and life-threatening disorders affecting < 1 person every 2,000. For most of them, clinical symptoms and signs can be observed at birth or childhood. Approximately 80% of all rare diseases have a genetic background and most of them are monogenic conditions. In addition, while the majority of these diseases is still incurable, early diagnosis and specific treatment can improve patients’ quality of life. Transplantation is among the therapeutic options and represents the definitive treatment for end-stage organ failure, both in children and adults. The aim of this paper was to analyze, in a large cohort of Italian patients, the main rare genetic diseases that led to organ transplantation, specifically pointing the attention on the pediatric cohort. Results To the purpose of our analysis, we considered heart, lung, liver and kidney transplants included in the Transplant Registry (TR) of the Italian National Transplantation Center in the 2002–2019 timeframe. Overall, 49,404 recipients were enrolled in the cohort, 5.1% of whom in the pediatric age. For 40,909 (82.8%) transplant recipients, a disease diagnosis was available, of which 38,615 in the adult cohort, while 8,495 patients (17.2%) were undiagnosed. There were 128 disease categories, and of these, 117 were listed in the main rare disease databases. In the pediatric cohort, 2,294 (5.6%) patients had a disease diagnosis: of the 2,126 (92.7%) patients affected by a rare disease, 1,402 (61.1%) presented with a monogenic condition. As expected, the frequencies of pathologies leading to organ failure were different between the pediatric and the adult cohort. Moreover, the pediatric group was characterized, compared to the adult one, by an overall better survival of the graft at ten years after transplant, with the only exception of lung transplants. When comparing survival considering rare vs non-rare diseases or rare and monogenic vs rare non-monogenic conditions, no differences were highlighted for kidney and lung transplants, while rare diseases had a better survival in liver as opposed to heart transplants. Conclusions This work represents the first national survey analyzing the main genetic causes and frequencies of rare and/or monogenic diseases leading to organ failure and requiring transplantation both in adults and children.

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