Pathological mandibular fracture complicated by osteonecrosis in an adult patient with pycnodysostosis: clinical report and review of the literature.

Pycnodysostosis is an ultra-rare osteosclerotic skeletal disorder characterized by short stature, susceptibly to fractures, acroosteolysis of the distal phalanges, and craniofacial features (frontal bossing, prominent nose, obtuse mandibular angle, micrognathia). Dental abnormalities (delayed eruption of teeth, hypodontia, malocclusion, dental crowding, persistence of deciduous teeth, enamel hypoplasia, and increased caries) are also frequent; due to bone metabolism alteration, the patients have an increased risk for jaw osteomyelitis, especially after tooth extraction or mandible fracture. Other complications are obstructive sleep apnea, endocrine alterations and cytopenia. Pycnodysostosis is caused by biallelic loss of function variants in CTSK gene, coding the lysosomal protease cathepsin K. CTSK is involved in the degradation of bone matrix proteins, such as type I and type II collagen. In pycnodysostosis, this degradation is decreased, leading to increased bone density and bone fragility with pathological fractures and poor healing. We present a clinical report of a female adult patient with typical pycnodysostosis phenotype. At the age of 52 years, she had a pathological spontaneous fracture of the right mandible complicated by osteonecrosis, treated with load bearing osteosynthesis. The direct sequencing of CTSK gene revealed the presence of the pathogenic homozygous variant c.746T>A, (p.Ile249Asn), that confirmed the diagnosis of pycnodysostosis. We also review the literature case series published to date, that suggest to always consider the diagnosis of pycnodysostosis in case of osteosclerosis, even in the absence of brachydactyly or short stature. This report details the natural history of the disease in this patient, from childhood to adulthood, and highlights the importance of a quality of life assessment. In addition, we describe a case of mandibular osteonecrosis and spontaneous fracture in pycnodysostosis, drawing attention on the maxillofacial complications in these patients and on the importance of a personalized follow-up.

Monitoring Volatile Organic Compounds and Aroma Profile of Robinia pseudoacacia L. Honey at Different Storage Temperatures during Shelf Life.

Bee honey has different volatile organic compound profiles that depend on the botanical origin and the state of conservation and which are mainly responsible for its specific aroma. During honey storage, the profile of these molecules and other indicators, such as 5-hydroxymethylfurfural and the diastatic index, can change depending on temperature and time. This study analyzed the variations that these parameters in acacia honey stored at three different temperatures for a total period of 550 days, using gas chromatography coupled with mass spectrometry and an electronic nose equipped with 10 different sensors. The results confirm that the composition of acacia honey varies over time due to both the reduction in the concentration of volatile molecules (e.g., formic acid, a natural acaricide) and the increase in compounds resulting from heat-dependent degradations (e.g., 5-hydroxymethylfurfural). This study supports the usefulness of the electronic nose for the early detection of aromatic alterations in honey subjected to high-temperature storage.

Influence of the Physical State of Two Monofloral Honeys on Sensory Properties and Consumer Satisfaction.

Honey is a worldwide known and appreciated food product. Its appreciation by consumers is due to both its nutritional properties and the extremely reduced processing. The floral origin, color, aroma and taste are key factors in determining the quality of honey. Nevertheless, rheological properties, as crystallization rate, play a fundamental role in the perceived overall quality. Indeed, crystallized honey is often considered of poor quality by consumers, but a fine-grained or creamy texture is becoming interesting from the producers' side. The purpose of this study was to investigate textural and aromatic properties and consumers' perception and acceptance of two monofloral honeys that were differently crystallized. Liquid and creamy samples were obtained from crystallized samples. Physico-chemical, descriptive and dynamic sensory analysis, as well as consumer and CATA tests, were conducted on the three honey textures. The physico-chemical analysis well-discriminated the crystallization levels and evidenced that, although the honey variety was different, the textural properties of the creamy samples are very similar. Crystallization was shown to affect the honey sensory perceptions: liquid samples were sweeter, but less aromatic. Consumer tests allowed the validation of panel data and confirmed consumers' higher appreciation for liquid and creamy honey.

Large Gartner cyst of the posterior vaginal fornix.

International classifications of congenital anomalies do not extensively describe vaginal cysts. For this reason, clinicians who deal with such conditions can only rely on their personal or other colleague's experience, and only a few case reports are present in the literature. This paper illustrates the clinical scenario due to a particular Gartner cyst, the diagnostic workup followed for its diagnosis and its surgical management.