Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother

Arthrogryposis multiplex congenita is characterized by non-progressive, multiple joint contractures present at birth. The major cause of arthrogryposis is fetal akinesia due to fetal abnormalities like neurogenic, muscle, connective tissue abnormalities or maternal disorders Here we report a rare case of arthrogryposis in infant of diabetic mother with multiple congenital anomalies

A lumpy back: extensive cutaneous collagenomas

A widespread form of eruptive collagenomas in a 12-year-old man is presented for the impressive iconography, challenging differential diagnosis, and histopathological considerations associated with such rare connective tissue disorders. Syndromic forms should be carefully investigated for the different course and prognosis. Treatment is a major unsolved issue as aesthetic concerns are significant, especially in young adults

Connective tissue anomalies in patients with spontaneous cervical artery dissection.

OBJECTIVE: To investigate the prevalence of connective tissue abnormalities in patients with spontaneous cervical artery dissections (sCeAD). METHODS: We systematically assessed clinically detectable signs of connective tissue aberration in a series of consecutive patients with sCeAD and of age- and sex-matched patients with ischemic stroke unrelated to CeAD (non-CeAD IS) by a standard examination protocol including 68 items, and performed extensive molecular investigation for hereditary connective tissue disorders in all patients with sCeAD. RESULTS: The study group included 84 patients with sCeAD (mean age, 44.5 ± 7.8 years; 66.7% men) and 84 patients with non-CeAD IS. None of the patients with sCeAD met clinical or molecular diagnostic criteria for established hereditary connective tissue disorder. Connective tissue abnormalities were detected more frequently in the group of patients with sCeAD than in the group of those with non-CeAD IS (mean number of pathologic findings, 4.5 ± 3.5 vs 1.9 ± 2.3; p < 0.001). Eighty-one patients (96.4%) in the sCeAD group had at least one detectable sign compared with 55 patients (66.7%) in the group with non-CeAD IS (p < 0.001). Skeletal, ocular, and skin abnormalities, as well as craniofacial dysmorphisms, were the clinical signs more strongly associated with sCeAD. Signs suggesting connective tissue abnormality were also more frequently represented in patients with sCeAD than in patients with traumatic CeAD (28.6%, p < 0.001; mean number of pathologic findings, 1.7 ± 3.7, p = 0.045). CONCLUSIONS: Connective tissue abnormalities are frequent in patients with sCeAD. This reinforces the hypothesis that systemic aberrations of the connective tissue might be implicated in the pathogenesis of the disease

Роль дисплазії сполучної тканини в розвитку рецидиву генітального пролапсу

В статье приводится анализ данных, посвященных влиянию дисплазии соединительной ткани на развитие рецидива генитального пролапса. За период с 2003 по 2011 год было обследовано и прооперировано 600 гинекологических пациентов с признаками недифференцированной дисплазии соединительной ткани и без нее трансвагинальным доступом с использованием собственных тканей или аллотрансплантата, проведено морфологическое и иммуногистохимическое исследование тканей. полученные данные указывают на изменение структуры ткани у женщин с заболеванием соединительной ткани, увеличение у этой группы пациенток частоты рецидива генитального пролапса более чем в 2,5 раза. Использование синтетических протезов при соединительнотканной патологии снижает частоту рецидива заболевания в 2 раза и является обоснованным.This article provides an analysis of data on the effects of connective tissue dysplasia on the development of recurrent genital prolapse. During the period from 2003 to 2011 were examined and operated on 600 patients with gynecologic symptoms of undifferentiated connective tissue dysplasia and without transvaginal access using their own tissue or allograft, performed a morphological study of tissues and imunogistohimicheskoe. These data indicate a change in the structure of tissue in women with connective tissue disorders, an increase in this group of patients the frequency of recurrence of genital prolapse in more than 2.5 times. The use of synthetic grafts for diseases of the connective tissue decreases the incidence of recurrent disease in 2 times and it is justified

Bronchiolitis obliterans.

Bronchiolitis obliterans in the adult patient is a relatively uncommon and vexing clinical entity. This confusion results because this pathologic finding occurs in a variety of diverse clinical settings. Bronchiolitis obliterans is a fibrotic process that primarily affects the small conducting airways. The lesion results from damage to the bronchiolar epithelium and the repair process leads to excessive proliferation of granulation tissue. The alveoli adjacent to the small airway are almost always involved; however, a considerable portion of the interstitium is usually spared. The findings in these patients may physiologically and radiographically mimic chronic obstructive pulmonary disease (COPD). On the other hand, some of the processes associated with bronchiolitis obliterans result in restrictive or mixed restrictive and obstructive ventilatory defects; consequently, they may be confused with other diffuse infiltrative lung disorders. This review will focus principally on bronchiolitis obliterans in adults, which, until recently, was considered rare. There has been heightened interest in this process in adults because of its association with the connective tissue diseases, its development following toxic fume exposure, its occurrence as a result of chronic graft versus host reactions, and the increasing recognition of patients with idiopathic forms of the disease that have an insidious onset often confused with more common problems such as COPD or idiopathic pulmonary fibrosis

The role of endothelin-1 in pulmonary arterial hypertension.

Pulmonary arterial hypertension (PAH) is a rare but debilitating disease, which if left untreated rapidly progresses to right ventricular failure and eventually death. In the quest to understand the pathogenesis of this disease differences in the profile, expression and action of vasoactive substances released by the endothelium have been identified in patients with PAH. Of these, endothelin-1 (ET-1) is of particular interest since it is known to be an extremely powerful vasoconstrictor and also involved in vascular remodelling. Identification of ET-1 as a target for pharmacological intervention has lead to the discovery of a number of compounds that can block the receptors via which ET-1 mediates its effects. This review sets out the evidence in support of a role for ET-1 in the onset and progression of the disease and reviews the data from the various clinical trials of ET-1 receptor antagonists for the treatment of PAH

Current Issues and Regulations in Tendon Regeneration and Musculoskeletal Repair with Mesenchymal Stem Cells

Mesenchymal stem cells are multipotent stromal cells residing within the connective tissue of most organs. Their surface phenotype has been well described. Most commonly, mesenchymal stem cells demonstrate the ability to differentiate into mesenchymal tissues (bone, catailge, fat, etc...), however, under the proper conditions these cells can differentiate into epithelial cells and neuroectoderm derived lineages. Their developmental plasticity also depends on the ability of mesenchymal stem cells to alter the tissue microenvironment by secreting soluble factors, as well as their capacity for differentiation in tissue repair. It is the cell-matrix interaction which defines the tissue characteristics. The molecular and functional heterogeneity of this cell population may confound interpretation of their differentiation potential, but it is this heterogeneity that is believed to provide for their therapeutic efficacy. Stem cell therapies are an attractive therapeutic approach for soft tissues as they offer a vehicle for repair and regeneration at the end of a needle. The early introduction of stem cell treatments into the therapeutic armamentarium involves both commercial and non-commercial multidisciplinary partnerships and has occurred in a climate of regulatory reform, so not all the relevant information resides in the public domain, but early clinical studies have shown promising results. Against this backdrop, novel techniques and early results of a small series of tendon and musculotendinous junction interventions are being published and other ongoing studies are yet to report their results. The issue of ensuring governance of these novel technologies falls upon both the scientific community and the established licensing authorities

Rethinking the role of alpha toxin in Clostridium perfringens-associated enteric diseases : a review on bovine necro-haemorrhagic enteritis

Bovine necro-haemorrhagic enteritis is an economically important disease caused by Clostridium perfringens type A strains. The disease mainly affects calves under intensive rearing conditions and is characterized by sudden death associated with small intestinal haemorrhage, necrosis and mucosal neutrophil infiltration. The common assumption that, when causing intestinal disease, C. perfringens relies upon specific, plasmid-encoded toxins, was recently challenged by the finding that alpha toxin, which is produced by all C. perfringens strains, is essential for necro-haemorrhagic enteritis. In addition to alpha toxin, other C. perfringens toxins and/or enzymes might contribute to the pathogenesis of necro-haemorrhagic enteritis. These additional virulence factors might contribute to breakdown of the protective mucus layer during initial stage of pathogenesis, after which alpha toxin, either or not in synergy with other toxins such as perfringolysin O, can act on the mucosal tissue. Furthermore, alpha toxin alone does not cause intestinal necrosis, indicating that other virulence factors might be needed to cause the extensive tissue necrosis observed in necro-haemorrhagic enteritis. This review summarizes recent research that has increased our understanding of the pathogenesis of bovine necro-haemorrhagic enteritis and provides information that is indispensable for the development of novel control strategies, including vaccines

Oral administration of pyrophosphate inhibits connective tissue calcification

Various disorders including pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI), which are caused by inactivating mutations in ABCC6 and ENPP1, respectively, present with extensive tissue calcification due to reduced plasma pyrophosphate (PPi). However, it has always been assumed that the bioavailability of orally administered PPi is negligible. Here, we demonstrate increased PPi concentration in the circulation of humans after oral PPi administration. Furthermore, in mouse models of PXE and GACI, oral PPi provided via drinking water attenuated their ectopic calcification phenotype. Noticeably, provision of drinking water with 0.3 mM PPi to mice heterozygous for inactivating mutations in Enpp1 during pregnancy robustly inhibited ectopic calcification in their Enpp1-/- offspring. Our work shows that orally administered PPi is readily absorbed in humans and mice and inhibits connective tissue calcification in mouse models of PXE and GACI PPi, which is recognized as safe by the FDA, therefore not only has great potential as an effective and extremely low-cost treatment for these currently intractable genetic disorders, but also in other conditions involving connective tissue calcification