Predictors of Interstitial Lung Disease in Mixed Connective Tissue Disease.

Interstitial lung disease (ILD) frequently complicates mixed connective tissue disease (MCTD) and contributes to increased mortality. We aimed to identify predictors of ILD in MCTD patients. This is a nationwide, multicentre, retrospective study including patients with an adult-onset MCTD clinical diagnosis who met Sharp's, Kasukawa, Alarcón-Segovia, or Kahn's diagnostic criteria and had available chest high-resolution computed tomography (HRCT) data. Univariate and multivariate analyses were conducted. We included 57 MCTD patients, with 27 (47.4%) having ILD. Among ILD patients, 48.1% were asymptomatic, 80.0% exhibited a restrictive pattern on pulmonary function tests, and 81.5% had nonspecific interstitial pneumonia on chest HRCT. Gastroesophageal involvement (40.7% vs. 16.7%, p = 0.043) and lymphadenopathy at disease onset (22.2% vs. 3.3%, p = 0.045) were associated with ILD. Binary logistic regression identified lymphadenopathy at disease onset (OR 19.65, 95% CI: 1.91-201.75, p = 0.012) and older age at diagnosis (OR 1.06/year, 95% CI: 1.00-1.12, p = 0.046) as independent ILD predictors, regardless of gender and gastroesophageal involvement. This study is the first to assess a Portuguese MCTD cohort. As previously reported, it confirmed the link between gastroesophageal involvement and ILD in MCTD patients. Additionally, it established that lymphadenopathy at disease onset and older age at diagnosis independently predict ILD in MCTD patients.

An anatomical approach to the tarsal tunnel syndrome: what can ankle's medial side anatomy reveal to us?

BACKGROUND: The heel is a complex anatomical region and is very often the source of pain complaints. The medial heel contains a number of structures, capable of compressing the main nerves of the region and knowing its anatomical topography is mandatory. The purpose of this work is to evaluate if tibial nerve (TN) and its main branches relate to the main anatomical landmarks of the ankle's medial side and if so, do they have a regular path after emerging from TN. METHODS: The distal part of the legs, ankles and feet of 12 Thiel embalmed cadavers were dissected. The pattern of the branches of the TN was registered and the measurements were performed according to the Dellon-McKinnon malleolar-calcaneal line (DML) and the Heimkes Triangle (HT). RESULTS: The TN divided proximal to DML in 87.5%, on top of the DML in 12,5% and distal in none of the feet. The Baxter's nerve (BN) originated proximally in 50%, on top of the DML in 12,5% and distally in 37.5% of the cases. There was a strong and significant correlation between the length of DML and the distance from the center of the medial malleolus (MM) to the lateral plantar nerve (LPN), medial plantar (MPN) nerve, BN and Medial Calcaneal Nerve (MCN) (ρ: 0.910, 0.866, 0.970 and 0.762 respectively, p <  0.001). CONCLUSIONS: In our sample the TN divides distal to DML in none of the cases. We also report a strong association between ankle size and the distribution of the MPN, LPN, BN and MCN. We hypothesize that location of these branches on the medial side of the ankle could be more predictable if we take into consideration the distance between the MM and the medial process of the calcaneal tuberosity.

The phenotype of mixed connective tissue disease patients having associated interstitial lung disease.

OBJECTIVE: We aimed to compare two matched populations of patients with MTCD with and without associated ILD and to identify predictive factors for ILD progression and severity. METHODS: This international multicenter retrospective study (14 tertiary hospitals), included MCTD patients who fulfilled at least one historical MCTD classification criteria. ILD was defined by the presence of typical chest high-resolution computed tomography (HRCT) abnormalities. Factors associated with ILD were assessed at baseline. Long-term progressive ILD was assessed in MCTD-ILD patients with multiple forced vital capacity (FVC) measurements. RESULTS: 300 patients with MCTD were included. Mean age at diagnosis was 39.7 ± 15.4 years and 191 (63.7%) were women. Mean follow-up was 7.8 ± 5.5 years. At baseline, we identified several factors associated with ILD presence: older age (p = 0.01), skin thickening (p = 0.03), upper gastro-intestinal (GI) symptoms (p<0.001), FVC <80% (p<0.0001), diffusing capacity for carbon monoxide <80% (p<0.0001), anti-topoisomerase antibodies (p = 0.01), SSA/Ro antibodies (p = 0.02), cryoglobulinemia (p = 0.04) and elevated C-reactive protein (p<0.001). Patients with MTCD-ILD were more likely to be treated with synthetic immunosuppressant agents (p<0.001) in particular mycophenolate mofetil (p = 0.03). Digital ulcers (DU) were identified as a risk factor for FVC decline >10%. During follow-up mortality was higher in the MTCD-ILD group (p<0.001). CONCLUSION: In this large international cohort of patients with MTCD, we identified different factors associated with ILD. Our findings also provide evidence that MCTD-ILD patients have increased mortality and that DU are associated with progressive lung disease.

Prenatal diagnosis of closed gastroschisis: What to expect in the most severe form of gastroschisis? Case report and literature review.

Closed gastroschisis (CG) and vanishing gastroschisis (VG) are the most severe forms of evolution of the malformation. In this case, a fetus presented with gastroschisis at 13 weeks, and the gastroschisis was not visualized at 22 weeks of gestation. Distal ileum, cecum, and ascending colon atresia were diagnosed at surgery, and the child is fully enteral-fed at 5 months of age. In a literature review of 43 cases of prenatal diagnosis of CS-VG, intrauterine death occurred in 4.5% of cases. 79.6% of the cases underwent surgical treatment. Of these cases, 20% of cases died due to complications of treatment, 26% were still under treatment and 54% are alive with enteral feeding. In 77% of the cases, the closure of the umbilical ring occurred after 26 weeks of gestation and the absence of prenatal diagnosis of CG-VG during pregnancy has a risk of 71% of death.

Treating Little Finger's Flexor Profundus Tendon Rupture after Percutaneous K-wire Fixation of a Bennet Fracture - A Case Report.

Introduction: About 20% of all fractures in the human skeleton involves the hand, affecting primarily the young and active population. A Bennett's fracture (BF) is a fracture of the base of the first metacarpal and surgical management is generally needed, with the K-wire fixation being the most preferred option. Among the most common complications with K-wires, we find infection and soft-tissues damages like tendon ruptures. Case Report: Here, we report a case of iatrogenic rupture of the Little Finger's Flexor Profundus Tendon after K-wire fixation of a BF that was diagnosed 4 weeks after the lesion. Different surgical strategies were proposed for managing chronic flexor tendon's ruptures; however, no consensus exist around what option would be the best. Here, we describe a flexor transfer from the 5th to the 4th finger that resulted in a great improvement in patient's DASH score and general quality of life. Conclusion: It is important to remember that percutaneous fixations with K wires in the hand can have disastrous complications, patients should be evaluated for possible tendon ruptures after the surgery, no matter how impossible they may seem, as even unexpected complications can have easier solutions in the acute setting.

Prenatal diagnosis of Pallister-Hall syndrome: ultrasound, magnetic resonance imaging, and three-dimensional reconstructions of phenotypical findings.

Pallister - Hall syndrome is a rare malformation that involves the presence of a suprasellar hamartoma and associated malformations. Prenatal diagnosis is also rare, and few cases have been reported using magnetic resonance imaging (MRI). A 35-year-old G5P2A2 woman at the 35th week of gestation was referred to our service. Fetal MRI showed an isointense image in the suprasellar region, pushing the brainstem up and backward, and compressing the vermis and cerebellum on T2-weighted images. On T1-weighted images, the hypointense signal of the tumor was similar to that of the brain parenchyma. Ultrasound images showed a suprasellar mass, which was more echogenic than the normal cerebral parenchyma, posteriorly pushing the brain stem, with involvement of the vermis of the tumor and compression of the posterior fossa. Three-dimensional reconstruction using MRI scan data showed a space view of the tumor and its relationships with the other brain tissues allowing better understanding by parents and multidisciplinary team.

Long non-coding RNA H19 regulates matrisome signature and impacts cell behavior on MSC-engineered extracellular matrices.

BACKGROUND: The vast and promising class of long non-coding RNAs (lncRNAs) has been under investigation for distinct therapeutic applications. Nevertheless, their role as molecular drivers of bone regeneration remains poorly studied. The lncRNA H19 mediates osteogenic differentiation of Mesenchymal Stem/Stromal Cells (MSCs) through the control of intracellular pathways. However, the effect of H19 on the extracellular matrix (ECM) components is still largely unknown. This research study was designed to decode the H19-mediated ECM regulatory network, and to reveal how the decellularized siH19-engineered matrices influence MSC proliferation and fate. This is particularly relevant for diseases in which the ECM regulation and remodeling processes are disrupted, such as osteoporosis. METHODS: Mass spectrometry-based quantitative proteomics analysis was used to identify ECM components, after oligonucleotides delivery to osteoporosis-derived hMSCs. Moreover, qRT-PCR, immunofluorescence and proliferation, differentiation and apoptosis assays were performed. Engineered matrices were decellularized, characterized by atomic force microscopy and repopulated with hMSC and pre-adipocytes. Clinical bone samples were characterized by histomorphometry analysis. RESULTS: Our study provides an in-depth proteome-wide and matrisome-specific analysis of the ECM proteins controlled by the lncRNA H19. Using bone marrow-isolated MSC from patients with osteoporosis, we identified fibrillin-1 (FBN1), vitronectin (VTN) and collagen triple helix repeat containing 1 (CTHRC1), among others, as having different pattern levels following H19 silencing. Decellularized siH19-engineered matrices are less dense and have a decreased collagen content compared with control matrices. Repopulation with naïve MSCs promotes a shift towards the adipogenic lineage in detriment of the osteogenic lineage and inhibits proliferation. In pre-adipocytes, these siH19-matrices enhance lipid droplets formation. Mechanistically, H19 is targeted by miR-29c, whose expression is decreased in osteoporotic bone clinical samples. Accordingly, miR-29c impacts MSC proliferation and collagen production, but does not influence ALP staining or mineralization, revealing that H19 silencing and miR-29c mimics have complementary but not overlapping functions. CONCLUSION: Our data suggest H19 as a therapeutic target to engineer the bone ECM and to control cell behavior.

The relation between mandibular symphysis and the Angle class in orthodontic treatment.

Objectives: Facial perception depends on the different components of the face. The chin is a striking anatomical structure in the individual's identity and mandibular symphysis (MS) shape influences the adjacent soft tissue, determining facial harmony. In lateral cephalometry, the MS corresponds to the image of the mandibular body in its anterior curvature. It shape, inclination and thickness provide valuable information for orthodontic diagnosis and prognosis. Since facial features are associated with malocclusions, the present investigation aims to relate the height, thickness and inclination of the MS using Angle's Class. Methods: 495 lateral incidence cephalograms of an orthodontic population were analyzed using a previously developed and tested software. The sample was randomly selected and the height, thickness and inclination of the MS were measured. The values were statistically analyzed (p ≤ 0.05). Results: The distribution according to Angle's Class was 48.9% for Class I, 34.7% for Class II Division 1, 7.4% for Class II Division 2 and 8.9% for Class III. The MS height did not't show significant differences between the three dental classes. The MS thickness was significantly increased in Class II Division 2 and Class I subjects (p = 0,037). The MS inclination was significantly less in Class III subjects when compared to Class I and Class II Division 1 (p ≤ 0.001). Conclusions: The MS presented variations, which may be associated with a natural compensation against malocclusion, influencing the position of the teeth and their relationship with the other dento-craniofacial structures and with consequences on the facial harmony.

Presence of Human Papillomavirus in Human Tissues and the Environment.

Human Papillomavirus is one of the most well-known pathogens having potential to cause both benign and malignant illnesses. The current controversy focuses on its continuity in non-epithelial tissues and the environment, and its ability to cause infection in these settings. This review addresses the virology aspects that contribute to its presence and resistance in humans and the environment.

Maternal-fetal physical model: image fusion obtained by white light scanner and magnetic resonance imaging.

BACKGROUND: Physical fetal models developed from three-dimensional (3D) ultrasound or magnetic resonance imaging (MRI) scan data may be used for medical education purposes, for parental counseling/multidisciplinary team management and to improve the maternal-fetal attachment (MFA) in blind pregnant women. PURPOSE: We proposed a new technique to create a maternal-fetal physical model by using MRI scan data to improve the MFA. METHODS: For the construction of the maternal-fetal physical model, two different processes were used. For the internal part of the maternal-fetal physical model, we used the segmentation and the 3D reconstruction made from the MRI scan data, and for the outside, we performed 3D scanning by using a white light scanner. After obtaining the 3D models, we used a registration tool to position them in alignment. CONCLUSION: Maternal-fetal physical models improve the MFA by using both tactile and visual sensations of the pregnant woman and her fetus.

Placenta accreta: Virtual reality from 3D images of magnetic resonance imaging.

Image from a fragment of the video of virtual reality model evaluating a case of placenta accreta spectrum and placental invasion. In this image, the placenta (purple) goes through the uterus and reaches the bladder muscle and mucosa (pink).

Antenatal Diagnosis of Parapagus Conjoined Twins: 3D Virtual and 3D Physical Models.

Conjoined twins (CTs) are a rare complication from monochorionic and monoamniotic twin pregnancies. We describe the use of 3D technologies, including 3D virtual and 3D physical models on prenatal evaluation of one parapagus CT. A 16-year-old G1P0 woman was referred for fetal magnetic resonance imaging (MRI) anatomical evaluation of a CT at 28 weeks of gestation. 3D images of the fetal surface were generated by the software during the examination for spatial comprehension of the relationship between the fetal parts. The pair of CTs died at the 32nd week of gestation, a few hours after cesarean section. 3D technologies are an important tool for parental counseling and preparation of the multidisciplinary care team for delivery and neonatal assistance and possible surgical planning for postnatal separation in CTs cases.

Gêmeos unidos (GUs) são uma complicação rara de gestações gemelares monocoriônicas e monoamnióticas. Descrevemos o uso de tecnologias 3D, incluindo modelos 3D virtuais e físicos, na avaliação pré-natal de GU parapagus. Mulher de 16 anos, G1P0, foi encaminhada para avaliação anatômica por ressonância magnética (RM) fetal de GU com 28 semanas de gestação. Imagens 3D da superfície fetal foram geradas pelo software durante o exame para compreensão espacial da relação entre as partes fetais. O par de GUs morreu na 32ª semana de gestação, poucas horas após a cesariana. As tecnologias 3D são uma importante ferramenta de aconselhamento dos pais e de preparação da equipe multiprofissional para o parto e a assistência neonatal, além de possível planejamento cirúrgico para separação pós-natal em casos de GUs.