Lung disease manifestations in Down Syndrome

2021 ◽  
Author(s):  
Soula Danopoulos ◽  
Gail H. Deutsch ◽  
Claire Dumortier ◽  
Thomas Jay Mariani ◽  
Denise Al Alam
Keyword(s):  
Down Syndrome ◽  
Lung Disease ◽  
Chromosomal Abnormalities ◽  
Respiratory Illness ◽  
Multiple Organ ◽  
Upper Airways ◽  
Live Births ◽  
Organ Systems ◽  
Entire Lung ◽  
Lower Airways

Down Syndrome (DS) is one of the most prevalent chromosomal abnormalities world-wide, affecting 1 in 700 live births. Although multiple organ systems are affected by the chromosomal defects, respiratory failure and lung disease are the leading causes of morbidity and mortality observed in DS. Manifestations of DS in the respiratory system encompass the entire lung starting from the nasopharynx, trachea/upper airways to the lower airways and alveolar spaces, as well as vascular and lymphatic defects. Most of our knowledge on respiratory illness in persons with DS arises from pediatric studies, however many of these disorders present early in infancy supporting developmental mechanisms. In this review we will focus on the different lung phenotypes in DS, as well as the genetic and molecular pathways that may be contributing to these complications during development.

URIC ACID LEVEL AS A PREDICTOR OF SEVERITY IN PREGNANT WOMEN WITH SEVERE PREECLAMPSIA

2021 ◽  
pp. 327-331
Author(s):  
Natasya Natasya ◽  
Fidel Ganis Siregar ◽  
Ratna Akbari Ganie
Keyword(s):  
Developing Countries ◽  
Uric Acid ◽  
Pregnant Women ◽  
Acid Level ◽  
Developed Countries ◽  
Multiple Organ ◽  
Live Births ◽  
Obstetric Emergency ◽  
Organ Systems ◽  
Life Threatening

Preeclampsia is a pregnancy syndrome affecting multiple organ systems, characterized by hypertension and proteinuria after 20 weeks of gestation. The incidence of preeclampsia is estimated to be 3-10% of pregnancies worldwide and is the leading cause of death for pregnant women. Preeclampsia is a life-threatening obstetric emergency, so it needs prompt and precise treatment to prevent morbidity and mortality. WHO estimates that the incidence of preeclampsia is seven times higher in developing countries (2.8% of live births) than in developed countries 1,2 (0.4%).

scholarly journals SARS-CoV-2, ACE2 expression, and systemic organ invasion

2020 ◽  
Author(s):  
Usman M Ashraf ◽  
Ahmed A Abokor ◽  
Jonnelle M. Edwards ◽  
Emily W. Waigi ◽  
Rachel S. Royfman ◽  
...  
Keyword(s):  
Respiratory Illness ◽  
Normal Function ◽  
Multiple Organ ◽  
Angiotensin Converting Enzyme 2 ◽  
Multiple Organs ◽  
Global Pandemic ◽  
Organ Systems ◽  
Novel Coronavirus ◽  
Severe Respiratory Illness ◽  
Organ Invasion

A novel coronavirus disease, COVID-19, has created a global pandemic in 2020, posing an enormous challenge to healthcare systems and affected communities. COVID-19 is caused by Severe Acute Respiratory Syndrome (SARS)-CoronaVirus-2 (CoV-2) that manifests as bronchitis, pneumonia, or a severe respiratory illness. SARS-CoV-2 infects human cells via binding a "spike" protein on its surface to angiotensin-converting enzyme 2 (ACE2) within the host. ACE2 is crucial for maintaining tissue homeostasis and negatively regulates the renin-angiotensin-aldosterone system (RAAS) in the humans. The RAAS is paramount for normal function in multiple organ systems including the lungs, heart, kidney, and vasculature. Given that SARS-CoV-2 internalizes via ACE2, the resultant disruption in ACE2 expression can lead to altered tissue function and exacerbate chronic diseases. The widespread distribution and expression of ACE2 across multiple organs is critical to our understanding of the varied clinical outcomes of COVID-19. This perspective review based on the current literature was prompted to show how disruption of ACE2 by SARS-CoV-2 can affect different organ systems.

scholarly journals Ongoing clinical trials and treatment options for patients with systemic sclerosis–associated interstitial lung disease

Rheumatology ◽  
2018 ◽  
Vol 58 (4) ◽  
pp. 567-579 ◽  
Author(s):  
Dinesh Khanna ◽  
Donald P Tashkin ◽  
Christopher P Denton ◽  
Martin W Lubell ◽  
Cristina Vazquez-Mateo ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Treatment Guidelines ◽  
Treatment Options ◽  
Multiple Organ ◽  
Organ Systems ◽  
The Uk ◽  
Disease Modifying Treatment ◽  
Substantial Morbidity

Abstract SSc is a rare CTD that affects multiple organ systems, resulting in substantial morbidity and mortality. Evidence of interstitial lung disease (ILD) is seen in ∼80% of patients with SSc. Currently there is no approved disease-modifying treatment for ILD and few effective treatment options are available. CYC is included in treatment guidelines, but it has limited efficacy and is associated with toxicity. MMF is becoming the most commonly used medication in clinical practice in North America and the UK, but its use is not universal. Newer agents targeting the pathogenic mechanisms underlying SSc-ILD, including fibrotic and inflammatory pathways, lymphocytes, cell–cell and cell–extracellular membrane interactions, hold promise for better treatment outcomes, including improved lung function, patient-related outcomes and quality of life. Here we review ongoing trials of established and novel agents that are currently recruiting patients with SSc-ILD.

scholarly journals Combating a Case of COVID Pneumonia with ARDS – a Physiotherapist’s Standpoint

2021 ◽  
pp. 412-417
Author(s):  
Chaithanya Ratheesh ◽  
Aishwarya Nair
Keyword(s):  
Case Report ◽  
Ventilatory Support ◽  
Treatment Protocol ◽  
Respiratory Illness ◽  
Supplemental Oxygen ◽  
Multiple Organ ◽  
Vital Role ◽  
Correct Identification ◽  
Physiotherapy Treatment ◽  
Organ Systems

Introduction: Coronavirus disease (COVID-19) is an infectious disease caused by the SARS-CoV-2 virus, affecting multiple organ systems. The disease usually presents as mild to moderate respiratory illness but in many cases has progressed to development of pneumonia and ARDS ultimately requiring ventilatory support and prolonged ICU stay. Prolonged immobilization itself is a harbinger of various complications drastically altering a patient’s functional status. Physiotherapy plays a vital role in the management of COVID-19 symptoms as well as in the prevention of complications.  Case Study: This case report describes the progress of a 44-year old female patient diagnosed with COVID-19 presenting with subsequent pneumonia and ARDS. The patient was started with medical management and supplemental oxygen therapy. In combination to the above-mentioned protocols, physiotherapy treatment was also initiated. After 2 weeks of rehabilitation and drug therapy, the patient displayed improved respiratory function at room air and was able to independently ambulate with minimal breathing difficulty. Discussion: This case report aims to highlight the importance of early intervention of physiotherapy in COVID-19 patients. The scope of physiotherapy treatment in patients with COVID-19 pneumonia is vast. The treatment protocol adapted for this patient are in tune with the various research articles analysed to ensure evidence-based care. This will enable the healthcare professionals to ensure timely referral and early initiation of Physiotherapy treatment. Conclusion: As per the findings and results of this case report, it is evident that the patient benefited from the timely advent of physiotherapy intervention. The key factor was the correct identification of the problematic areas and accurate prioritization based on the clinical presentation and investigation findings

scholarly journals HUBUNGAN ANTARA USIA IBU HAMIL DENGAN RESIKO TERJADINYA KELAHIRAN SINDROMA DOWN

EGALITA ◽  
2012 ◽  
Author(s):  
Ana Rahmawati
Keyword(s):  
Down Syndrome ◽  
Developmental Disorder ◽  
Chromosome Structure ◽  
Chromosomal Abnormalities ◽  
Chromosome 21 ◽  
Oral Disease ◽  
Hormone Deficiency ◽  
Medical Problems ◽  
Live Births ◽  
Chromosomal Disorder

<p>Down syndrome is a genetic disease caused by a chromosomal disorder. It is the most common chromosomal abnormality occurs in live births (1/900 ). The characteristics or clinical sign of Down Syndrome is mental retardation, usually have short stature and has a crease of the eye like Mongolian race,nose wide and flat,rounded face, mouth always open, both nostrils wide apart. Down syndrom often also have medical problems<br />such as the congenital heart disease, growth hormone deficiency, thyroid disease, obesity, oral disease, leukemia, hearing impairment, chronic tonsilitis, developmental disorder of speech, language,intelligibility etc. There are two kinds of chromosomal abnormalities mechanism in Down Syndrome. The first is the change in chromosome structure/translocation, the second is nondisjunction or failed to split on chromosome 21 upon the formation of gamete cells parents. Down Syndrome is associated with maternal age occurs because of nondisjunction. Some of the research data reveal an association between the age of mother during pregnancy with the risk of Down Syndrome births.</p><p>Sindroma Down adalah penyakit genetik yang disebabkan karena gangguan kromosom. Merupakan abnormalitas kromosom yang paling sering terjadi pada kelahiran hidup ( 1/900 kelahiran). Ciri-ciri atau tanda klinis sindroma Down adalah keterbelakangan mental, biasanya memiliki tubuh yang pendek, hidung lebar dan datar, wajah membulat, mulutselalu terbuka,kedua lubang hidung lebar, memiliki lipatan mata seperti yang dimiliki oleh ras Mongolia. Sindroma Down seringkali juga memiliki masalah-masalah kesehatan seperti penyakit jantung kongenital, defisiensi hormon pertumbuhan, penyakit tiroid, kegemukan, gangguan kesehatan mulut, leukemia,gangguan pendengaran, tonsilitis kronik, gangguanperkembangan bahasa,bicara, kecerdasan dan lain-lain. Terdapat dua macam mekanisme terjadinya kelainan kromosom pada sindroma Down, pertama yaitu karena adanya perubahan struktur kromosom/ translokasi, kedua yaitu terjadi karena nondisjunction atau gagal berpisah kromosom21 pada saat pembentukan sel gamet pada orangtuanya. Sindroma Down yang dihubungkan dengan faktor usia ibu hamil adalah sindroma Down yang terjadi karena nondisjunction. Beberapa data penelitian mengungkapkan adanya keterkaitan antara usia ibu saat hamil dengan resiko terjadinya kelahiran sindroma Down.<br /><br /><br /></p>

scholarly journals Nipah virus encephalitis: A review

2019 ◽  
Vol 34 (02) ◽  
Author(s):  
Archana Bharti ◽  
Yamini Verma ◽  
Amita Dubey ◽  
Madhu Swamy
Keyword(s):  
Virus Disease ◽  
Nipah Virus ◽  
Signs And Symptoms ◽  
Respiratory Illness ◽  
Multiple Organ ◽  
Subclinical Infection ◽  
Highly Pathogenic ◽  
Organ Systems ◽  
Contaminated Food ◽  
Effective Drugs

Nipah virus disease is emerging disease caused by highly pathogenic paramyxoviruses. It is spread by contaminated food with secretions of infected bats to animals and human or directly between infected to healthy one. It causes a range of illnesses from asymptomatic (subclinical) infection to acute respiratory illness and fatal encephalitis. Virus has ability to infect multiple organ systems, with a predominant neurological or respiratory tropism. Initial signs and symptoms of infection are nonspecific, hence early diagnosis is difficult. To overcome this awful situation efforts to prevent transmission and development of new effective drugs should first focused.

Microprobe analysis of inclusion bodies related to two benzofuran derivatives

1987 ◽  
Vol 45 ◽  
pp. 672-673
Author(s):  
T. L. Benning ◽  
P. Ingram ◽  
J. D. Shelburne
Keyword(s):  
Inclusion Bodies ◽  
Uranyl Acetate ◽  
Multiple Organ ◽  
High Dose ◽  
En Bloc ◽  
Tissue Samples ◽  
Transmission Electron ◽  
Organ Systems ◽  
Dense Inclusion ◽  
Melanin Complex

Two benzofuran derivatives, chlorpromazine and amiodarone, are known to produce inclusion bodies in human tissues. Prolonged high dose chlorpromazine therapy causes hyperpigmentation of the skin with electron-dense inclusion bodies present in dermal histiocytes and endothelial cells ultrastructurally. The nature of the deposits is not known although a drug-melanin complex has been hypothesized. Amiodarone may also cause cutaneous hyperpigmentation and lamellar lysosomal inclusion bodies have been demonstrated within the cells of multiple organ systems. These lamellar bodies are believed to be the product of an amiodarone-induced phospholipid storage disorder. We performed transmission electron microscopy (TEM) and energy dispersive x-ray microanalysis (EDXA) on tissue samples from patients treated with these drugs, attempting to detect the sulfur atom of chlorpromazine and the iodine atom of amiodarone within their respective inclusion bodies.A skin biopsy from a patient with hyperpigmentation due to prolonged chlorpromazine therapy was fixed in 4% glutaraldehyde and processed without osmium tetroxide or en bloc uranyl acetate for Epon embedding.

Impairment Rating and Spinal Cord Injuries: Revisiting the Guides

2010 ◽  
Vol 15 (3) ◽  
pp. 1-7
Author(s):  
Richard T. Katz
Keyword(s):  
Spinal Cord ◽  
Spinal Cord Injuries ◽  
Functional Independence ◽  
Outcome Data ◽  
Multiple Organ ◽  
Loss Of Function ◽  
Sixth Edition ◽  
Organ Systems ◽  
Cord Injury ◽  
Impairment Ratings

Abstract This article addresses some criticisms of the AMA Guides to the Evaluation of Permanent Impairment (AMA Guides) by comparing previously published outcome data from a group of complete spinal cord injury (SCI) persons with impairment ratings for a corresponding level of injury calculated using the AMA Guides, Sixth Edition. Results of the comparison show that impairment ratings using the sixth edition scale poorly with the level of impairments of activities of daily living (ADL) in SCI patients as assessed by the Functional Independence Measure (FIM) motor scale and the extended FIM motor scale. Because of the combinations of multiple impairments, the AMA Guides potentially overrates the impairment of paraplegics compared with that of quadriplegics. The use and applicability of the Combined Values formula should be further investigated, and complete loss of function of two upper extremities seems consistent with levels of quadriplegia using the SCI model. Some aspects of the AMA Guides contain inconsistencies. The concept of diminishing impairment values is not easily translated between specific losses of function per organ system and “overall” loss of ADLs involving multiple organ systems, and the notion of “catastrophic thresholds” involving multiple organ systems may support the understanding that variations in rating may exist in higher rating cases such as those that involve an SCI.

Renal Manifestations of Tuberous Sclerosis Complex

2020 ◽  
Vol 7 (3) ◽  
pp. 5-19
Author(s):  
Nikhil Nair ◽  
Ronith Chakraborty ◽  
Zubin Mahajan ◽  
Aditya Sharma ◽  
Sidarth Sethi ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Gene Disruption ◽  
Treatment Guidelines ◽  
Renal Cysts ◽  
Skin Lesions ◽  
Multiple Organ ◽  
Tsc2 Gene ◽  
Genetic Condition ◽  
Organ Systems

Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors and seizures. TSC can manifests in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.

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