Fontaine Progeroid Syndrome -- A Case Report

Fontaine Progeroid Syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene located on chromosome 1. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a patient from birth until his death at 7 months.

Sphingosine 1-Phosphate (S1P) in the Peritoneal Fluid Skews M2 Macrophage and Contributes to the Development of Endometriosis

Sphingosine 1-phosphate (S1P), an inflammatory mediator, is abundantly contained in red blood cells and platelets. We hypothesized that the S1P concentration in the peritoneal cavity would increase especially during the menstrual phase due to the reflux of menstrual blood, and investigated the S1P concentration in the human peritoneal fluid (PF) from 14 non-endometriosis and 19 endometriosis patients. Although the relatively small number of samples requires caution in interpreting the results, S1P concentration in the PF during the menstrual phase was predominantly increased compared to the non-menstrual phase, regardless of the presence or absence of endometriosis. During the non-menstrual phase, patients with endometriosis showed a significant increase in S1P concentration compared to controls. In vitro experiments using human intra-peritoneal macrophages (MΦ) showed that S1P stimulation biased them toward an M2MΦ-dominant condition and increased the expression of IL-6 and COX-2. An in vivo study showed that administration of S1P increased the size of the endometriotic-like lesion in a mouse model of endometriosis.

Experimental demonstration of broadband negative refraction at visible frequencies by critical layer thickness analysis in a vertical hyperbolic metamaterial

This work presents a vertical hyperbolic metamaterial (vHMM) consisting of a vertically stacked metal-dielectric multilayer that operates in the visible spectrum. The vHMM is designed by exploiting the relation between negative refraction and effective permittivity along the perpendicular direction of the layers (ε ⊥). When a vHMM has a high loss tangent defined by tan δ ⊥ ≡ Im(ε ⊥)/Re(ε ⊥), even a vHMM composed of relatively thick layers can generate negative refraction. A fabricable vHMM composed of gold and copolymer resist (EL8) which exhibits negative refraction at the wavelengths between 450 and 550 nm is designed using critical layer thickness analysis. The largest negative refraction is observed at the wavelength of 500 nm, where the angle of refraction reaches −1.03°. The corresponding loss tangent and equivalent refractive index are 1.08 and −0.47, respectively. However, negative refraction is not observed at the wavelengths longer than 550 nm due to low tan δ ⊥. We uncover that the tan δ ⊥ of a vHMM is the dominant condition for generating negative refraction rather than the ratio of layer thickness to wavelength.

Climate and human induced 2000-year vegetation diversity change in Yunnan, southwestern China

Understanding long-term vegetation diversity patterns and their potential responses to climate and/or human driven processes are important for ecosystem modeling and conservation. Late-Holocene fossil pollen assemblage and associated vegetation diversity estimates provide an opportunity to explore the interactions among vegetation, climate, and human activities. A continuous 2000-year palynological record was obtained from the Beihai Wetland, southwestern China, to represent regional vegetation history, particularly the vegetation diversity changes. The results indicate that regional vegetation was dominated by deciduous broadleaved forest components (e.g. Alnus, deciduous Quercus), which showed a gradual decrease accompanied by expansion of herbaceous taxa (mainly Poaceae) after AD 800. Such progressive decline of forest was attributed to regional deforestation driven by intensified human activities, which was further confirmed by the increasing non-pollen polymorph abundance, particularly an abrupt rise after AD 1350. Vegetation diversity based on the Hill numbers ( N0, N1, and N2) showed a dramatic decline between ca. AD 200–400, which was triggered by regional fire events as shown by increased charcoal abundance from a nearby lake. The vegetation diversity reduced gradually after AD 800, especially the vegetation richness reflected by N0, revealing the transitional process from climate-driven to human-dominated vegetation changes. Minor increases of vegetation diversity occurred during Chinese dynastical transitions, probably due to reduced human activities following war-induced population crises. On the multidecadal scale, variations in vegetation diversity correlated significantly with climate fluctuations (revealed by synthesized temperature of China and stable oxygen isotope record from Dongge Cave) before AD 800, indicating a climate dominant condition. Then, the correlation between vegetation diversity and climate declined after AD 800, representing a progressive transition to human-dominant condition. In addition, the compositional turnover based on DCCA of the fossil pollen assemblage revealed a stepwise decrease, indicating reduced vegetation turnovers under anthropogenic influences.

Achondroplasia with seronegative spondyloarthropathy resulting in recurrent spinal stenosis : A case report

Background: Achondroplasia is an autosomal dominant condition caused by the G380 mutation of the gene encoding fibroblast growth factor receptor 3 on chromosome 4P. The classical findings include rhizomelic extremities, short stature, and spinal stenosis involving the upper cervical and distal lumbar spine. Rarely, achondroplasia coexisting with seronegative spondyloarthropathy can result in recurrent canal stenosis. Here, we report a 36-year-old male with symptomatic recurrent L3-L4 spinal stenosis 9 years following an original L2-S1 lumbar decompression for stenosis. Case Description: A 36-year-old male with achondroplasia (height of 113 cm and weight 43 kg [BMI-33.7]) presented with low back and right lower extremity sciatica (ODI 39). He had achondroplasia with a short stature. Nine years ago, he had an L2-S1 laminectomy for decompression of stenosis. When the new MRI revealed recurrent severe L3-4 stenosis, he underwent a repeated L3-L4 decompression with fusion. One year later, the patient was neurologically intact with radiographic confirmation of adequate L3-L4 arthrodesis. Conclusion: A 36-year-old male with achondroplasia and a history 9 years ago of an L2-S1 laminectomy for stenosis, presented with symptoms and signs of recurrent L3-L4 stenosis that responded to repeated decompression and fusion.

Rapid molecular diagnosis of ALB gene variants prevents unnecessary interventions in familial dysalbuminemic hyperthyroxinemia

Objectives Familial dysalbuminemic hyperthyroxinemia (FDH) is an autosomal dominant condition caused by heterozygous gain-of-function mutations in the human ALB gene. Case presentation We report, a three-year-old boy with FDH due to p.R242P (or p.R218P without signal peptide) mutation in the ALB gene with a phenotype characterized by extremely high serum total and free thyroxine concentrations. His parents had normal thyroid function tests (TFT), so the mutation detected in this patient is assumed “de novo”. Although the most frequent variant was p.R242H in Caucasians and p.R242P in Japanese, our patient had p.R242P variant. Conclusions Early identification of FDH is fundamental to prevent unnecessary repeats of TFT with different methods. We encourage the ALB gene hot spot sequencing initially and indicate that this molecular diagnosis is a rapid and simple method to diagnose FDH in individuals with euthyroid hyperthyroxinemia.

The Skin in Cowden Syndrome

Cowden syndrome (CS) is an autosomal dominant condition caused by mutations in the phosphatase and tensin homolog (PTEN) gene, and is characterized by multiple hamartomas and a predisposition to malignant tumors. Characteristic skin lesions include trichilemmomas, acral keratosis, mucocutaneous neuromas, oral papillomas, and penile macules, and are often the first clues to the underlying diagnosis. Here, we discuss the mucocutaneous manifestations of CS, differential diagnoses of genetic causes of each cutaneous finding, genetic analyses for patients with skin manifestations, management of patients with CS, and potential new targeted therapies for CS.

“VAN DER WOUDE SYNDROME: REPORT OF TWO CASES”

Van Der Woude syndrome is a rare autosomal dominant condition which is associated with developmental malformations involving lips, palate. This syndrome can be a genetic origin due to Microdeletion of chromosome bands 1q32-q41 and also mutation of Interferon regulatory factor 6 (IRF-6) can be a pathogenic cause. We report two interesting cases of Van Der Woude syndrome with lip pits and orofacial features.

Diffuse neurofibroma of the chest and abdominal wall invading the diaphragm leads to diaphragmatic eventration: case report

Background Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a high rate of new mutation and variable expression. Diffuse neurofibroma of the epidermis invading deeper organs is rare.We report a case of diffuse subcutaneous neurofibroma in the thoracoabdominal wall which had invaded the diaphragm and caused diaphragmatic eventration. Case presentation We describe a patient with diffuse neurofibroma of the chest and abdomen who was admitted to the hospital due to sudden abdominal pain and a possible diaphragmatic hernia. We performed thoracotomy and found that the neurofibroma had invaded the diaphragm and caused diaphragmatic eventration. Conclusions This occurrence has not been reported, and it shows that although neurofibromatosis is a benign disease, it still has the biological behavior of a malignant tumor and may cause a serious impact on and damage to other organs.