Abdominal wall hernias

Hernias are abnormal protrusion of an organ through a weakness/defect in the body wall that contains it. Classifications include groin hernias, ventral abdominal wall hernias (umbilical, femoral), incisional, Spigelian, and lumbar hernias. Inguinal hernias are the commonest types of abdominal wall hernias (~75%). Male are affected 15-times more frequently. Hernias are more common in smokers, patients with underlying connective tissue disorders (Ehlers Danlos Syndrome, Marfan syndrome), and patients with increased intra-abdominal pressure (obesity, heavy lifting, chronic cough, and chronic straining during defecation and urination). Hernias present as incidental finding on imaging, asymptomatic lumps, painful lumps, or incarcerated or strangulated hernias. Clinical history and examination are the mainstay of diagnosis. Most hernias are treated with surgical repair (open or laparoscopic). Conservative wait and watch policy is indicated in some cases.

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The role of the dental practitioner in diagnosing connective tissue and other systemic disorders: a case report of a patient diagnosed with type III Ehlers-Danlos syndrome

Oral Surgery ◽

10.1111/ors.12129 ◽

2014 ◽

Vol 8 (2) ◽

pp. 96-101 ◽

Cited By ~ 2

Author(s):

D. Awal ◽

T.W. Lloyd ◽

H.J. Petersen

Keyword(s):

Case Report ◽

Connective Tissue ◽

Ehlers Danlos Syndrome ◽

Type Iii ◽

Dental Practitioner ◽

Danlos Syndrome

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Hereditary Connective Tissue Diseases in Young Adult Stroke: A Comprehensive Synthesis

Stroke Research and Treatment ◽

10.4061/2011/712903 ◽

2011 ◽

Vol 2011 ◽

pp. 1-18 ◽

Cited By ~ 4

Author(s):

Olivier M. Vanakker ◽

Dimitri Hemelsoet ◽

Anne De Paepe

Keyword(s):

Connective Tissue ◽

Metabolic Disorders ◽

Type Iv Collagen ◽

Connective Tissue Diseases ◽

Haemorrhagic Stroke ◽

Monogenic Disease ◽

Connective Tissue Disorders ◽

Ehlers Danlos Syndrome ◽

Type Iv ◽

Danlos Syndrome

Though the genetic background of ischaemic and haemorrhagic stroke is often polygenetic or multifactorial, it can in some cases result from a monogenic disease, particularly in young adults. Besides arteriopathies and metabolic disorders, several connective tissue diseases can present with stroke. While some of these diseases have been recognized for decades as causes of stroke, such as the vascular Ehlers-Danlos syndrome, others only recently came to attention as being involved in stroke pathogenesis, such as those related to Type IV collagen. This paper discusses each of these connective tissue disorders and their relation with stroke briefly, emphasizing the main clinical features which can lead to their diagnosis.

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Geno-phenotypic characteristics of Ehlers–Danlos syndrome: difficulties of disease type identification and approaches to pathogenetic treatment

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) ◽

10.21508/1027-4065-2021-66-1-22-30 ◽

2021 ◽

Vol 66 (1) ◽

pp. 22-30

Author(s):

E. A. Nikolaeva ◽

A. N. Semyachkina

Keyword(s):

Connective Tissue ◽

Clinical Symptoms ◽

Molecular Genetic ◽

Symptomatic Treatment ◽

Pathological Process ◽

Social Adaptation ◽

Molecular Defect ◽

Ehlers Danlos Syndrome ◽

Pathogenetic Therapy ◽

Danlos Syndrome

Veltischev Researchand Clinical Institutefor Pediatricsofthe Pirogov Russian National Research Medical University, Moscow, Russia The article presents modern data on the most common monogenic connective tissue disease – Ehlers–Danlos syndrome. The authors describe two previous classifications of the syndrome: Berlin (1988) classification, which distinguishes 11 types of the disease, and Beyton (1998) classification, which includes 6 types of the syndrome and takes into account the results of molecular genetic studies. Particular attention is paid to a new classification, proposed by the International Consortium in 2017. This classification is based on the clinical and molecular genetic data and unites 13 types of Ehlers–Danlos syndrome, divided in 7 groups (A–G), depending on the main molecular defect. This defect determines the violation of various collagen structures (primary, spatial, cross-linking) and others constituents of the connective tissue (myomatrix, glycosaminoglycans, complement component, etc.). The classification provides general clinical symptoms for all types of the disease and comprehensive information on the specific signs of each of the 13 types of the syndrome.The authors discuss approaches to the pathogenetic therapy of the syndrome, the possibilities of symptomatic treatment, including both medications of different spectrum of action, and physiotherapeutic measures, exercise therapy. The complex of the listed therapeutic measures is aimed at stabilizing the main pathological process, preventing complications, improving the patient’s quality of life and social adaptation. The authors emphasize that correct patient management, targeted medical supervision and medical genetic counseling requires molecular genetic verification of the diagnosis.

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