scholarly journals Pulmonary alveolar microlithiasis

2020 ◽  
Vol 29 (158) ◽  
pp. 200024
Author(s):  
Patrick Kosciuk ◽  
Cristopher Meyer ◽  
Kathryn A. Wikenheiser-Brokamp ◽  
Francis X. McCormack

Pulmonary alveolar microlithiasis (PAM) is a fascinating rare lung disease that is associated with the accumulation of hydroxyapatite microliths within the lumen of the alveolar spaces. In most patients, PAM is discovered incidentally on radiographs performed for other purposes, and the typical disease course is characterised by slowly progressive respiratory insufficiency over decades. Recent genetic analyses that have revealed that the deficiency of the sodium-phosphate cotransporter NPT2B is the cause of PAM have enabled the development of powerful animal models that inform our approach to disease management and treatment. Here we review the epidemiology and molecular pathophysiology of PAM, as well as the diagnostic approach, clinical manifestations, radiographic and pathologic features, and clinical management of the disease. Although there are no proven treatments for PAM, progress in our understanding of disease pathogenesis is providing insights that suggest strategies for trials.

2015 ◽  
Vol 16 ◽  
pp. 77-80 ◽  
Author(s):  
Marco Favio Michele Vismara ◽  
Emma Colao ◽  
Fernanda Fabiani ◽  
Francesco Bombardiere ◽  
Oscar Tamburrini ◽  
...  

2010 ◽  
pp. 3454-3455
Author(s):  
D.J. Hendrick

Pulmonary alveolar microlithiasis is caused by mutations of the type IIb sodium phosphate cotransporter gene, which by an unknown mechanism leads to the accretion of calcified microliths in the lungs. Almost invariably the patient is symptom free when the diagnosis is made after a chest radiograph is taken incidentally (or during family screening) and reveals profuse small calcified nodules. Patients usually survive 10–20 years from diagnosis, lung transplantation being the only effective treatment in severe cases....


2015 ◽  
Vol 7 (313) ◽  
pp. 313ra181-313ra181 ◽  
Author(s):  
Atsushi Saito ◽  
Nikolaos M. Nikolaidis ◽  
Hassane Amlal ◽  
Yasuaki Uehara ◽  
Jason C. Gardner ◽  
...  

Biomedicines ◽  
2021 ◽  
Vol 9 (7) ◽  
pp. 812
Author(s):  
Guendalina Bastioli ◽  
Maria Regoni ◽  
Federico Cazzaniga ◽  
Chiara Maria Giulia De Luca ◽  
Edoardo Bistaffa ◽  
...  

Parkinson’s disease (PD) is the most common neurodegenerative movement disorder. The neuropathological hallmark of the disease is the loss of dopamine neurons of the substantia nigra pars compacta. The clinical manifestations of PD are bradykinesia, rigidity, resting tremors and postural instability. PD patients often display non-motor symptoms such as depression, anxiety, weakness, sleep disturbances and cognitive disorders. Although, in 90% of cases, PD has a sporadic onset of unknown etiology, highly penetrant rare genetic mutations in many genes have been linked with typical familial PD. Understanding the mechanisms behind the DA neuron death in these Mendelian forms may help to illuminate the pathogenesis of DA neuron degeneration in the more common forms of PD. A key step in the identification of the molecular pathways underlying DA neuron death, and in the development of therapeutic strategies, is the creation and characterization of animal models that faithfully recapitulate the human disease. In this review, we outline the current status of PD modeling using mouse, rat and non-mammalian models, focusing on animal models for autosomal recessive PD.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 882.1-882
Author(s):  
C. Sengler ◽  
S. Eulert ◽  
M. Niewerth ◽  
T. Kallinich ◽  
H. Wittkowski ◽  
...  

Background:Although children and adolescents are less likely to develop COVID-19 and generally show milder disease courses, it is unclear what impact the SARS-CoV2 infection has on children and adolescents with rheumatic and musculoskeletal disease (RMD). Due to their underlying disease as well as therapeutic immunosuppression these patients may be at higher risk of being more severely affected by SARS-CoV2. Furthermore, SARS-CoV2 infection might trigger a flare of the underlying disease.Objectives:To evaluate clinical characteristics and disease course of COVID-19 in children and adolescents with RMD and to analyze possible effects of SARS-CoV2 infection on the underlying disease under different therapeutic regimens.Methods:Data from juvenile patients with RMD recorded via the SARS-CoV2 questionnaire within the National Pediatric Rheumatology Database and the registry for hospitalized children and adolescents with COVID-19 of the German Society for Pediatric Infectious Diseases were analyzed. In addition to age, sex and diagnosis, information was collected about the date and method of a positive SARS-CoV2 testing, reason for testing, on clinical manifestations, disease course, treatment and outcome of COVID-19, on drug therapy at the time of virus detection, on disease activity (NRS 0 – 10, 0 = best) of the underlying disease at the last visit before and after the SARS-CoV2 infection.Results:From April 17th 2020 until January 25th 2021, data of 67 patients with RMD and confirmed SARS-CoV2 infection were collected. Mean age was 13.5 ± 3.9 years with equal sex distribution. The majority of patients were diagnosed with juvenile idiopathic arthritis (JIA, 64%), 12 (18%) patients had an autoinflammatory disease (FMF, CAPS, PFAPA, TRAPS) and 5 (7%) a connective tissue disease. Fifty-two patients (78%) were treated with a disease modifying antirheumatic drug (DMARD), 39% with a biological DMARD and 9% systemic glucocorticoids at the time of SARS-CoV-2 infection. Nineteen patients (28%) were tested for SARS-CoV-2 because of typical symptoms, the majority (67%) because of contact to an infected person. PCR was used most often (in 60 %).52 patients (78%) developed symptoms of COVID-19, 15 patients remained asymptomatic. The most common symptom of COVID-19 was rhinitis (42%) and fever (38%), followed by fatigue (34%), taste/smell disorder (33%), sore throat (27%) and cough (23%).Disease severity was graded as mild in 44 of 52 (85%) symptomatic patients, only two patients were hospitalized, one of whom required intensive care and died of cardiorespiratory failure 3 days after symptom onset. In 22 of 26 (85%) SARS-CoV2-positive patients, no relevant increase in disease activity (difference in NRS ≤ 1 before/after infection) of the underlying disease was observed 31 days after symptom onset (median, IQR 17-52 days). One patient, who had paused tocilizumab for 2 doses, experienced a flare of his seronegative polyarthritis 2 months after asymptomatic SARS-CoV-2 infection.Conclusion:In our cohort, the clinical picture of COVID-19 in children and adolescents with RMD was similar to that of healthy peers. The majority of patients showed mild disease course with good outcome under various medications, however, one patient with a severe course of COVID-19 died. In addition, SARS-CoV2 infection does not appear to have a relevant impact on the underlying disease activity, whereas discontinuation of therapy might pose a risk of flare.Disclosure of Interests:None declared.


1982 ◽  
Vol 7 (3) ◽  
pp. 103-107 ◽  
Author(s):  
CHOHEI SHIGENO ◽  
MASAO FUKUNAGA ◽  
RIKUSHI MORITA ◽  
HISATOSHI MAEDA ◽  
MEGUMU HINO ◽  
...  

1968 ◽  
Vol 103 (3) ◽  
pp. 509-518 ◽  
Author(s):  
JIRAYR P. BALIKIAN ◽  
FARID J. D. FULEIHAN ◽  
CHARLES N. NUCHO

1980 ◽  
Vol 24 (1) ◽  
pp. 24-26
Author(s):  
B. RAMA RAO ◽  
MICHAEL B. MARTIN

1998 ◽  
Vol 7 (3) ◽  
pp. 324
Author(s):  
Akihiko Kimura ◽  
T Matsuyama ◽  
J Takada ◽  
S Ishii ◽  
M Usui

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