Manifestation Of Connective Tissue Disorder Research Articles

Neurological Manifestations of Connective Tissue Disorders.

Connective tissue disorders (CTD) are a group of disorders affecting the connective tissues. Usually the musculoskeletal and the vascular system is impacted. Along with these systems, the nervous system is also involved in CTD, which leads to various neurological manifestations. The pathophysiology of neurological complications of CTD is caused by various factors and is complicated. Disturbed immune complexes, chronic inflammation, and autoimmunity in which the body attacks its cells are considered to be responsible for the neurological complications of CTD. Additionally, the vascular symptoms that lead to decreased blood flow to the brain are also responsible for the neurological manifestations of CTD in diseases like systemic lupus erythematosus (SLE). In SLE, vessel wall integrity is compromised, which may lead to decreased blood flow leading to neurological complications. CTD can manifest a variety of neurological complications. These neurological complications can be classified into symptoms affecting the peripheral nervous system, central nervous system, and the autonomic nervous system. Some of the common neurological complications of CTD are headaches, seizures, ataxia, neuropathies leading to cranial nerve palsies, myelopathies, tremors, encephalitis, and cerebral infarction. Cranial nerve palsies can disturb sensations, vision, hearing, and mastication. Neuropsychiatric symptoms are also commonly observed in CTD. Cognitive dysfunction can be caused due to neuropsychiatric problems. Some of the cognitive dysfunctions are lack of concentration, memory loss, confusion, and coma. In this review, we will address various neurological manifestations of CTD.

Association of mast-cell-related conditions with hypermobile syndromes: a review of the literature.

Ehlers–Danlos syndrome (EDS) is a group of related connective tissue disorders consisting of 13 subtypes, each with its own unique phenotypic and genetic variation. The overlap of symptoms and multitude of EDS variations makes it difficult for patients to achieve a diagnosis early in the course of their disease. The most common form, hypermobile type EDS (hEDS) and its variant, hypermobile spectrum disorder (HSD), are correlated with rheumatologic and inflammatory conditions. Evidence is still needed to determine the pathophysiology of hEDS; however, the association among these conditions and their prevalence in hEDS/HSD may be explained through consideration of persistent chronic inflammation contributing to a disruption of the connective tissue. Aberrant mast cell activation has been shown to play a role in disruption of connective tissue integrity through activity of its mediators including histamine and tryptase which affects multiple organ systems resulting in mast cell activation disorders (MCAD). The overlap of findings associated with MCAD and the immune-mediated and rheumatologic conditions in patients with hEDS/HSD may provide an explanation for the relationship among these conditions and the presence of chronic inflammatory processes in these patients. It is clear that a multidisciplinary approach is required for the treatment of patients with EDS. However, it is also important for clinicians to consider the summarized symptoms and MCAD-associated characteristics in patients with multiple complaints as possible manifestations of connective tissue disorders, in order to potentially aid in establishing an early diagnosis of EDS.Supplementary InformationThe online version contains supplementary material available at 10.1007/s12026-022-09280-1.

New developments in esophageal function testing and esophageal manifestations of connective tissue disorders.

This work summarizes new and emerging metrics and tools in esophageal function testing and their potential clinical impact. Because the diagnostic sensitivity and reliability of conventional impedance-pH variables are suboptimal, several novel impedance parameters, such as the postreflux swallow-induced peristaltic wave index and the mean nocturnal baseline impedance, as well as mucosal impedance, are entering a validation stage prior to general clinical use. The accurate diagnosis of behavioral disorders in patients with rumination syndrome and supragastric belching using ambulatory multiple intraluminal impedance-pH can lead directly to behavioral interventions in patients with refractory gastroesophageal reflux disease (GERD). New provocative measures, such as multiple rapid swallows and the rapid drink challenge, have been developed to overcome the limitations of standard high-resolution esophageal manometry, aiming at further clarifying esophageal dysmotility. Furthermore, the current diagnostic and therapeutic challenges in patients with esophageal involvement in Sjogren's syndrome and scleroderma, who tend to have severe forms of GERD, are entering a new investigative and clinical phase.

An Observational Cross-Sectional Study of Varied Clinical Manifestations of Connective Tissue Disorders and their Association with Antinuclear Antibodies in a Tertiary Care Center.

Context:Connective tissue disorders (CTD) occur in 3–5% of the population. The advent of antibodies to extractable nuclear antigens (ENA) has become a reliable predictor to establish the diagnosis of CTD, subclassify patients into prognostic groups, and monitor disease activity.Aims:The aim of this study was to (a) study the frequency of cutaneous manifestations, systemic manifestations, and anti-ENA antibodies in CTD; (b) determine the association between systemic manifestations and ENAs; and (c) determine the association between cutaneous and systemic manifestations of CTD.Subjects and Materials:An observational cross- sectional study was conducted on 50 patients diagnosed to have CTD. The clinical profile and antibodies to ENA (ANA Profile) reports were retrieved and studied.Results:The major dermatological manifestations were skin tightness (36%), salt and pepper pigmentation (30%), Raynaud's phenomenon (28%), and malar rash (28%). The common antibodies seen were anti SS-A (36%), anti-UI-ribonucleoprotein (U1-RNP) (34%), anti-dsDNA (32%), and anti-Sm (24%). Patients with anti-Sm and anti-dsDNA antibodies had increased frequency of renal manifestations. A strong association with significant P values was seen between neurological manifestations and anti-Sm antibody, and cardiovascular manifestations and anti-RNP antibody. An association between gastrointestinal manifestations and malar rash as well as neurological manifestations and photosensitivity was also seen.Conclusions:ENA panel predicts systemic involvement, thus helping in the multidisciplinary management. Cutaneous manifestations of CTD can be an early predictor in giving a clue to impending systemic manifestations.

Rheumatoid Arthritis and Otolaryngological Findings: Highlights

Ear-nose-throat (ENT) manifestations of connective tissue disorders can be the first manifestation of these disorders and represent a diagnostic challenge for clinicians as they often constitute the initial sign of an otherwise asymptomatic autoimmune disease. Rheumatic diseases have high taxes spread worldwide and the otolaryngological manifestations (auditory, nasal, laryngeal) of this represent a great challenge not only to the generalist physician but also to the ENT doctor and rheumatologist [1,2].

Acral erythma as a manifestation of undifferentiated connective tissue disease

Acral erythema (AE) is a swelling and numbness of the hands and feet that is observed in viral infections such as hepatitis C, HIV, and toxic drug induced skin reactions (chemotherapy). Patients with undifferentiated connective tissue disease (UCTD) may present with various symptoms. The most common symptoms at presentation include Raynaud's phenomenon (48-59%), arthralgia (37-81%), arthritis (22-71%), mucocutaneous symptoms such as photosensitivity, malar rash, alopecia and oral ulcerations (23-52%), fever (15-23%), sicca symptoms (12-42%) and central nervous system symptoms (8.5%). There is no literature available on patient presenting with AE as a symptom of connective tissue disease who are not on any treatment. In this particular patient icterus, multiple oral ulcers, bilateral pitting edema feet and reddish discoloration of palms and soles were present. Nervous system examination revealed weakness in muscles of shoulder and pelvic girdle (power grade 3/5). Laboratory investigations showed conjugated hyperbilirubinemia, raised liver enzymes and albuminuria. HIV and hepatitis C serology was negative. Electromyography showed mixed neurogenic and myogenic pathology. Autoantibody testing revealed that the patient was positive for the following: Antiribonucleoprotein (RNP) antibody, anti-Smith antibodies, anti-double-stranded DNA antibody, antihistone antibodies, antinucleosomal antibodies, antiribosomal P antibody thereby suggesting UCTD. This case is unique for the fact that AE was the sole cutaneous manifestation of connective tissue disorder without any history of drug intake.

Atrio-ventricular valve dysplasia in 22 newborn infants

We retrospectively studied the experience of our institution with isolated dysplasia of one or both atrio-ventricular valves in 22 newborn infants. All patients with associated cardiac malformations were excluded. Ten patients exhibited isolated tricuspid valve dysplasia. One patient had tricuspid valve dysplasia and a dysplastic pulmonary valve. In 10 patients, both atrio-ventricular valves were affected. Finally, mitral valve dysplasia was associated with pulmonary valve stenosis in 1 case. Associated syndromes and/or chromosomal anomalies were: Down syndrome ( n=2), trisomy 18 ( n=1), Noonan syndrome ( n=1), Marfan syndrome ( n=3), Ehlers-Danlos and Cutis laxa ( n=2). Mortality was 27.2% during follow-up (mean 51 months): 3 patients with chromosomal aneuploidies, 2 patients with severe neonatal Marfan syndrome and 1 with Ehlers-Danlos. Complications were: sustained supra-ventricular tachycardia in 3, neonatal staphylococcal tricuspid valve endocarditis in 1, persistent significant valvular disease in 8. In the remaining 9 survivors, the dysplasia of the atrio-ventricular valves persists with absent or mild incompetence. Beside obvious chromosomal anomalies, newborn infants with dysplastic valves should be investigated for manifestations of connective tissue disorders. This may help to identify new pleiotropic syndromes which include valvular dysplasia as one manifestation.

Cardiovascular manifestations of connective tissue disorders.

Disease processes that involve abnormalities of the connective tissue are protean in their manifestations because of the ubiquitous and crucial function that connective tissue serves in the body. Connective tissue supports of the heart and vascular structures play an integral role in normal cardiovascular performance, and it is not surprising that many connective tissue disorders produce important pathophysiologic processes that affect cardiac and vascular elements. The article focuses on the cardiac and vascular manifestations of hereditary and acquired forms of connective tissue disease. Special attention is focused on the use of imaging modalities and their role in diagnosing cardiovascular pathology produced by collagen disorders.

Essentials of Respiratory Disease

The author aims to provide a practical guide to clinical problems useful to senior students and doctors in their early postgraduate years. The text is divided into three sections. Clinical methods comprise 37 pages, pulmonary physiology in relation to disease 82 pages, and varieties of lung disease 148 pages. The book is attractive, easily managed with one hand, and easily read. In a specialty where roentgenography constitutes a major form of diagnosis, only eight pages are devoted to its review, while the pulmonary manifestations of connective tissue disorders are spread over the same space. In part 2, the section on pulmonary function testing, the practical assessment of lung function by test could have used more representative examples of testing such as classification of disease, screening of disease, assessing individual lung function, pulmonary exercise tolerance, xenon scanning, and assessment of respiratory failure or insufficiency. A discussion of limitations of tests, and

Renal manifestations of connective tissue disorders.

A remarkably similar pattern of renal functional and structural change is seen in many of the connective tissue disorders. Renal functional impairment is common and often is progressive. Therapy has centered on the use of immunosuppressive agents in the form of corticosteroids or antimetabolites, with variable results. The electron microscopic and immunofluorescent appearance of renal lesions is described and illustrated.