Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias

The term “fibrillinopathies” gathers various diseases with a wide spectrum of clinical features and severity but all share mutations in the fibrillin genes. The first described fibrillinopathy, Marfan syndrome (MFS), is a multisystem disease with a unique combination of skeletal, thoracic aortic aneurysm (TAA) and ocular features. The numerous FBN1 mutations identified in MFS are located all along the gene, leading to the same pathogenic mechanism. The geleophysic/acromicric dysplasias (GD/AD), characterized by short stature, short extremities, and joint limitation are described as “the mirror image” of MFS. Previously, in GD/AD patients, we identified heterozygous FBN1 mutations all affecting TGFβ-binding protein-like domain 5 (TB5). ADAMTS10, ADAMTS17 and, ADAMTSL2 are also involved in the pathogenic mechanism of acromelic dysplasia. More recently, in TAA patients, we identified mutations in THSD4, encoding ADAMTSL6, a protein belonging to the ADAMTSL family suggesting that ADAMTSL proteins are also involved in the Marfanoid spectrum. Together with human genetic data and generated knockout mouse models targeting the involved genes, we provide herein an overview of the role of fibrillin-1 in opposite phenotypes. Finally, we will decipher the potential biological cooperation of ADAMTS-fibrillin-1 involved in these opposite phenotypes.

Using Autoplasma in Treatment of Secondary Arthrosis, Developed from Dislocation of TMJ Disc

22 patients diseased with secondary arthrosis, developed from dislocation of TMJ disc, were observed by the authors of the article. Between these patients were 17 females and 5 males. The age of patients was from 21 to 60 years. In the clinical case, the leading symptom was constant or periodical pain, located at the injured joint, limitation of mandibular movement, aggravation of pain while moving jaw and was attached with clicking in joint. In the complex treatment of this problematical disease, successfully and for the first time was used autoplasmolifting. Authors injected autoplasma once in 5-6 days, 6 injections on one course of treatment. After noted treatment, 18 patients all the symptoms were released, 4 patients condition got better there was slight pain left, while moving jaw. In 1 patient's case, the neuralgia of III branch of the trigeminal nerve was diagnosed and he received suitable treatment. In 3 cases there was necessary to include orthopedic/orthodontic treatment.

Interdependent Iron and Phosphorus Availability Controls Photosynthesis Through Retrograde Signaling

Iron deficiency hampers photosynthesis and is associated with chlorosis. We recently showed that iron deficiency-induced chlorosis depends on phosphorus availability. How plants integrate these cues to control chlorophyll accumulation is unknown. Here, we show that iron limitation downregulates photosynthesis genes in a phosphorus-dependent manner. Using transcriptomics and genome-wide association analysis, we identify two genes, a chloroplastic ascorbate transporter (PHT4;4) and a nuclear transcription factor (bZIP58), which prevent the downregulation of photosynthesis genes leading to the stay-green phenotype under iron-phosphorus deficiency. Joint limitation of these nutrients induces ascorbate accumulation by activating expression of an ascorbate biosynthesis gene, VTC4, which requires bZIP58. Exogenous ascorbate prevents iron deficiency-induced chlorosis in vtc4 mutants, but not in bzip58 or pht4;4. Our study demonstrates chloroplastic ascorbate transport is essential for preventing the downregulation of photosynthesis genes under iron-phosphorus combined deficiency. These findings uncover a molecular pathway coordinating chloroplast-nucleus communication to adapt photosynthesis to nutrient availability.

Complete reversibility of pembrolizumab-induced eosinophilic fasciitis without corticosteroids: A case report

Checkpoint inhibitor immunotherapy has recently started to play a fundamental role in the management of metastatic melanoma. It is however accountable for many undesirable adverse effects involving many organ systems. Eosinophilic fasciitis is a rare immune-related adverse effect associated to checkpoint inhibitors such as pembrolizumab and nivolumab. We report the case of a 25-year-old male who received pembrolizumab as a second-line therapy for metastatic melanoma. Approximately 8 months after starting the treatment, the patient developed signs and symptoms of eosinophilic fasciitis, including edema of his hands and lower legs, as well as joint limitation. Pembrolizumab was discontinued after 15 cycles because of symptom progression. The patient experienced complete resolution of symptoms 4 months after cessation of pembrolizumab and without corticosteroids. This case illustrates the reversibility of this immune adverse effect by discontinuation of the treatment, speculating that corticotherapy may not be needed in all cases.

Experience in using Total Elbow Arthroplasty at dr. M. Hoesin General Hospital Palembang (Case Series)

Total elbow arthroplasty (TEA) has proven to be a reliable joint replacement procedure that has a high degree of patient satisfaction. Despite these favorable outcomes, few patientswith disabling elbow degenerative conditions have TEA recommendedto them as an alternative procedure by rheumatologists, physiatrists,or orthopedists. The semi-constrained, hinged (linked) prosthesis is the most commonly used prosthesis.This prosthesis is stable postoperatively. Patients are encouraged to do range of motionexercises and use their elbow for activities of daily living as dictated by their pain leveland status of wound healing. Wound management is critical following TEA. A posterior triceps–sparing approach, which preserves the continuity of the triceps, whenpossible, is typically used. Postoperatively the therapist and patient need to respect the integrity of the triceps and posterior incision when performing both active and passiveelbow flexion exercises and functional activities. The surgeon may choose to limitflexion range of motion based on the intraoperative inspection of the triceps tendon. We have study on 5 cases patients with elbow arthrosis and went TEA for management of elbow pain and joint limitation of movement

The Analysis of the Joint Limitation Condition of Wave Height-Period on the Floating Crane Lifting Operation

Considering the influence of wave period on the motion of ship, the hydrodynamic model of the floating crane-lifting objects coupling system is built. This model can calculate the motion response of floating crane and lifting object under wave conditions with different wave heights and periods. And it takes stability and sea-keeping of ship, personnel comfort as well as safety of equipment into full account. By comparing swing amplitude and acceleration amplitude of the floating crane and the lifting object, the limit working condition including both wave height and period for hoisting operation of the floating crane is determined. The method for limitation operation condition analysis of the floating crane not only offers calculating foundation for the construction operating adaptability of the engineering ship and the allowable working time window of the construction sea area, but also provides a new technical approach to the arrangement for the construction plan.

A child with Myhre syndrome presenting with moyamoya disease: a case report and literature review

Background: Myhre syndrome (MS) is a very rare connective tissue disorder characterized by facial dysmorphism, thickened skin, muscular pseudohypertrophy and joint limitation. Developmental delay is common. But there are no reports of MS combined with moyamoya disease (MMD). Here, we present the first Chinese case of MS complicated with MMD. Case presentation: A 7-old-year girl presented with developmental disorder, short stature, brachydactyly, short stature, and intellectual deficiency with behavioral problems. We sequenced SMAD4 using exome sequencing and identified a denovo mutation (p.Ile500Thr) in the patient. In addition, The patient also had recurrent hemiplegia and seizures was diagnosed with definitive MMD by digital subtraction angiography (DSA) according to the diagnostic criteria. Conclusions: MMD has never been described in the individual with the clinical presentation of MS. we present an unusual association of MS with a typical moyamoya syndrome in a young girl who developed recurrent hemiplegia and seizure in an effort to explore whether MS may contribute to the MMD.

Traumatic Obturator Hip Dislocation with Marginal Femoral Head Fracture in a 15-Year-Old Adolescent: A High-Energy Trauma—A Case Report and a Review of the Literature

We report the case of a 15-year-old boy brought to the emergency department after a bike accident, complaining of an isolated left hip pain. The X-rays showed an obturator hip dislocation treated by closed reduction under general anaesthesia, followed by 6 weeks of discharge. The follow-up MRI performed 6 weeks after the trauma showed an avascular femoral head necrosis, for which we performed multiple retrograde femoral head drilling, completed by the injection of autologue stem cells from the iliaq crest. One year later, the patient has no hip pain, no joint limitation, and can practice BMX at a high level again. The purpose of this report is to make the physicians aware of this rare problem that may be damaging for hip function, especially in young people.