Imaging Diagnosis of Lateral Meningocele Syndrome

Neurographics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 66-71
Author(s):  
S. Raichandani ◽  
D. Van Tassel ◽  
K. Wong
Keyword(s):  
Connective Tissue ◽  
Clinical Management ◽  
Genetic Disorder ◽  
Facial Features ◽  
Imaging Features ◽  
Imaging Diagnosis ◽  
Connective Tissue Disorders ◽  
Multisystem Involvement ◽  
Clinical Presentations ◽  
Urogenital Anomalies

Lateral meningocele syndrome, also known as Lehman syndrome, is an exceptionally uncommon genetic disorder, which is characterized by specific facial features and multisystem involvement, including skeletal, cardiac, and urogenital anomalies, akin to other connective tissue disorders, but it is set apart by the unique occurrence of multiple lateral meningoceles. Knowledge of the distinctive imaging features can strongly suggest the diagnosis in patients with complex clinical presentations to assist in the guidance of appropriate and timely clinical management.

scholarly journals Meyer dysplasia in children’s connective-tissue disorders phenotype (the results of observation in the Municipal Children’s Polyclinic №2, Stavropol city)

2019 ◽  
Vol 26 (2) ◽  
pp. 32-36
Author(s):  
A. A Vorotnikov ◽  
D. Yu Zakota ◽  
G. A Saneeva ◽  
G. A Airapetov
Keyword(s):  
Connective Tissue ◽  
Detailed Examination ◽  
Diagnostic Methods ◽  
Connective Tissue Disorders ◽  
Hip Joints ◽  
Small Children ◽  
X Ray ◽  
Ultrasonic Examination ◽  
Clinical Presentations ◽  
Connective Tissue Dysplasia

Aim. The research of the prevalence, nosological structure, clinical presentations, and pathogenetic features of different forms of coxal epiphyseal pathology including Meyer dysplasia in small children based on the results of clinical and instrumental observation on outpatient orthopedic admission. Material and methods. In 12,000 children from 0 to 5 years, an orthopedic examination was conducted with an assessment of external dysmorphogenetic signs of connective tissue dysplasia, an ultrasonic examination of hip joints, an in-depth X-ray examination. The step-by-step examination algorithm was structured and detailed according to the presence and severity of the coxal region pathology, children’s age. Conclusion. The combination of dysplastic phenotype with joints formation inhibition in children aged 1 year is a predictor of Mayer’s dysplasia and must be the reason for a detailed examination of the hip joints with use of visual diagnostic methods.

Treatment of an asymptomatic penetrating aortic ulcer in a young patient

VASA ◽  
2010 ◽  
Vol 39 (2) ◽  
pp. 175-179
Author(s):  
Hakimi ◽  
Geisbüsch ◽  
Gross ◽  
Hyhlik-Dürr ◽  
Hausser ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Connective Tissue ◽  
Aortic Arch ◽  
Open Surgery ◽  
Open Repair ◽  
Thoracic Endovascular Aortic Repair ◽  
Concomitant Disease ◽  
Connective Tissue Disorders ◽  
Penetrating Aortic Ulcer ◽  
Pathological Analysis

We want to report and discuss the indication for open surgery for an asymptomatic penetrating aortic ulcer (PAU) in the era of thoracic endovascular aortic repair (TEVAR). A 31-year-old female presented with the diagnosis of an aneurysm in the distal aortic arch. With respect to the patient’s young age, the controversial status of connective tissue disorders and in the absence of concomitant disease, open repair was indicated. There was no proof of a mycotic plaque or connective tissue disease in the microbiological-, pathological analysis and at electron-microscopy. The patient was discharged on the thirteenth postoperative day. In spite of good preliminary results of TEVAR in PAU, in selective cases there is still an indication for open surgery.

Evaluation of Antinuclear Antibody in Connective Tissue Disorders

2012 ◽  
Vol 3 (6) ◽  
pp. 19-21
Author(s):  
Dr.Ashish Patela ◽  
◽  
Dr.Dipika Sathvara ◽  
Dr.Himanshu Patel ◽  
Dr.C.Chakrabarti Dr.C.Chakrabarti
Keyword(s):  
Connective Tissue ◽  
Antinuclear Antibody ◽  
Connective Tissue Disorders

Work-related Musculoskeletal Disorders in Emergency Medical Personnel

2020 ◽  
pp. 42-45
Author(s):  
L.M. Karamova ◽  
V.O. Krasovskiy ◽  
D.M. Vagapova ◽  
N.V. Vlasova ◽  
A.S. Khafizova ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Musculoskeletal Disorders ◽  
Disease Incidence ◽  
Medical Personnel ◽  
Incidence Rates ◽  
Connective Tissue Disorders ◽  
Ambulance Personnel ◽  
Occupational Risk Factors ◽  
Emergency Medical ◽  
Emergency Medical Personnel

Relevance. The importance of studying and analyzing contribution of occupational risk factors in musculoskeletal disorders among emergency medical personnel is related to high disease incidence rates and work specifics. The objective of our research envisaged formalization of information obtained for the analysis and assessment of occupational risks of developing musculoskeletal and connective tissue disorders in ambulance personnel. Results. According to professional medical examination results, musculoskeletal and connective tissue disorders ranked second among all diagnosed diseases. The relative risk of developing those disorders was 70% indicating the link between them and transport vibration (category 1) affecting the backbone during long trips in ambulance cars.

scholarly journals Imaging diagnosis of classical and new pneumoconiosis: predominant reticular HRCT pattern

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Akira Masanori
Keyword(s):  
Computed Tomography ◽  
Interstitial Lung Disease ◽  
Imaging Features ◽  
Imaging Findings ◽  
Imaging Diagnosis ◽  
High Resolution Computed Tomography ◽  
Pleural Fibrosis ◽  
Pathologic Findings ◽  
Characteristic Imaging ◽  
The Individual

AbstractOur understanding of the manifestations of pneumoconioses is evolving in recent years. Associations between novel exposures and diffuse interstitial lung disease have been newly recognized. In advanced asbestosis, two types of fibrosis are seen, probably related to dose of exposure, existence of pleural fibrosis, and the host factor status of the individual. In pneumoconiosis of predominant reticular type, nodular opacities are often seen in the early phase. The nodular pattern is centrilobular, although some in metal lung show perilymphatic distribution, mimicking sarcoidosis. High-resolution computed tomography enables a more comprehensive correlation between the pathologic findings and clinically relevant imaging findings. The clinician must understand the spectrum of characteristic imaging features related to both known dust exposures and to historically recent new dust exposures.

scholarly journals Rapid ascending aorta stiffening in bicuspid aortic valve on serial cardiovascular magnetic resonance evaluation: comparison with connective tissue disorders

2021 ◽  
Vol 23 (1) ◽  
Author(s):  
Alejandro Perez-Casares ◽  
Audrey Dionne ◽  
Kimberlee Gauvreau ◽  
Ashwin Prakash
Keyword(s):  
Cardiovascular Magnetic Resonance ◽  
Magnetic Resonance ◽  
Aortic Valve ◽  
Connective Tissue ◽  
Bicuspid Aortic Valve ◽  
Aortic Stiffness ◽  
Comparison Group ◽  
Aortic Distensibility ◽  
Connective Tissue Disorders ◽  
Aortic Stiffening

Abstract Background Aortic stiffness has been shown to be abnormal in patients with bicuspid aortic valve (BAV), and is considered a component of the aortopathy associated with this condition. Progressive aortic stiffening associated with aging has been previously described in normal adults. However, it is not known if aging related aortic stiffening occurs at the same rate in BAV patients. We determined the longitudinal rate of decline in segmental distensibility in BAV patients using serial cardiovascular magnetic resonance (CMR) studies, and compared to previously published results from a group of patients with connective tissue disorders (CTD). Methods A retrospective review of CMR and clinical data on children and adults with BAV (n = 49, 73% male; 23 ± 11 years) with at least two CMRs (total 98 examinations) over a median follow-up of 4.1 years (range 1–9 years) was performed to measure aortic distensibility at the ascending (AAo) and descending aorta (DAo). Longitudinal changes in aortic stiffness were assessed using linear mixed-effects modeling. The comparison group of CTD patients had a similar age and gender profile (n = 50, 64% male; 20.6 ± 12 years). Results Compared to CTD patients, BAV patients had a more distensible AAo early in life but showed a steeper decline in distensibility on serial examinations [mean 10-year decline in AAo distensibility (× 10−3 mmHg−1) 2.4 in BAV vs 1.3 in CTD, p = 0.005]. In contrast, the DAo was more distensible in BAV patients throughout the age spectrum, and DAo distensibility declined with aging at a rate similar to CTD patients [mean 10 year decline in DAo distensibility (× 10−3 mmHg−1) 0.3 in BAV vs 0.4 in CTD, p = 0.58]. Conclusions On serial CMR measurements, AAo distensibility declined at significantly steeper rate in BAV patients compared to a comparison group with CTDs, while DAo distensibility declined at similar rates in both groups. These findings offer new mechanistic insights into the differing pathogenesis of the aortopathy seen in BAV and CTD patients.

scholarly journals Echocardiographic Prevalence and Risk Predictors of Ventricular Dysfunction in Connective Tissue Disorders: Tertiary Care Hospital-Based Prospective Case-Control Study

2020 ◽  
Vol 1 (3-4) ◽  
pp. 132-141
Author(s):  
Saru Thakur ◽  
Geeta Ram Tegta ◽  
Prakash Chand Negi ◽  
Kunal Mahajan ◽  
Ghanshyam Verma ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Connective Tissue ◽  
Lupus Erythematosus ◽  
Systolic Dysfunction ◽  
Tertiary Care ◽  
Left Ventricular ◽  
Care Hospital ◽  
Connective Tissue Disorders ◽  
Cardiac Symptom ◽  
Recorded Data

Background: There is a paucity of contemporary Indian data about the prevalence of cardiac abnormalities in patients of connective tissue disorders (CTD) and their risk determinants. Methods: We prospectively recorded data from 35 consecutive CTD patients who presented to our out-patient department and had no significant cardiovascular risk factors at baseline. We also recorded data from their age- and sex-matched controls. All cases and controls were subjected to 12 lead electrocardiogram and echocardiography after routine investigations. Results: The CTD group comprised 19 (54.3%) patients of systemic lupus erythematosus, 12 (34.3%) patients of systemic sclerosis, 2 (5.7%) patients of mixed CTD, and 1 (2.9%) patient each of overlap syndrome and dermatomyositis. Cardiovascular involvement on echocardiography was documented in 71.4% of CTD patients despite majority of them having no cardiac symptom. Overt left ventricular (LV) systolic dysfunction was observed in 3 (8.6%) CTD patients, while subclinical LV systolic dysfunction was recorded in 13 (37.1%) patients. LV diastolic dysfunction was observed in 11.4% (n = 4) patients. RV systolic dysfunction was prevalent in 20% (n = 7) patients. Pulmonary hypertension was observed in 40% (n = 14) of CTD patients. Conclusion: The present study evaluated subclinical LV systolic dysfunction and pulmonary hypertension in about one third of CTD patients. It is imperative to screen for these abnormalities in CTD to ensure timely diagnosis and treatment.

scholarly journals Hereditary Hearing Impairment with Cutaneous Abnormalities

Genes ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 43
Author(s):  
Tung-Lin Lee ◽  
Pei-Hsuan Lin ◽  
Pei-Lung Chen ◽  
Jin-Bon Hong ◽  
Chen-Chi Wu
Keyword(s):  
Connective Tissue ◽  
Hearing Impairment ◽  
Early Identification ◽  
Database Search ◽  
Connective Tissue Disorders ◽  
Cutaneous Manifestations ◽  
Genetic Causes ◽  
Profound Influence ◽  
Pubmed Database ◽  
Hereditary Hearing Impairment

Syndromic hereditary hearing impairment (HHI) is a clinically and etiologically diverse condition that has a profound influence on affected individuals and their families. As cutaneous findings are more apparent than hearing-related symptoms to clinicians and, more importantly, to caregivers of affected infants and young individuals, establishing a correlation map of skin manifestations and their underlying genetic causes is key to early identification and diagnosis of syndromic HHI. In this article, we performed a comprehensive PubMed database search on syndromic HHI with cutaneous abnormalities, and reviewed a total of 260 relevant publications. Our in-depth analyses revealed that the cutaneous manifestations associated with HHI could be classified into three categories: pigment, hyperkeratosis/nail, and connective tissue disorders, with each category involving distinct molecular pathogenesis mechanisms. This outline could help clinicians and researchers build a clear atlas regarding the phenotypic features and pathogenetic mechanisms of syndromic HHI with cutaneous abnormalities, and facilitate clinical and molecular diagnoses of these conditions.

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