Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein.

AADC deficiency is a severe neurometabolic inherited rare disorder due to the absence or decrease of dopamine and serotonin levels, causing deep motor and neurodevelopmental impairments. The disease is often fatal in the first decade of life, and pharmacological treatments (dopamine agonists, pyridoxine, and monoamine oxidase inhibitors as the first-line choices) can only alleviate the symptoms. Gene therapy surgery is now available for severe patients in the European Union and the United Kingdom, and follow-up data witness encouraging improvements.

Survey on patients' attitude towards the nutritional counselling in the dental setting.

Aim: A healthy diet could help to prevent both oral and systemic diseases, with dentists and nutritionists supplementing their skills. The dental setting, where patients periodically refer to seeking oral health care, represents a powerful opportunity for nutritional counselling. To the best of our knowledge, no study is available on patients' attitudes towards dietary counselling in the dental setting.

An attenuated, adult case of AADC deficiency demonstrated by protein characterization.

A case of an adult with borderline AADC deficiency symptoms is presented here. Genetic analysis revealed that the patient carries two AADC variants (NM_000790.3: c.

Oral Surgery and Osteoradionecrosis in Patients Undergoing Head and Neck Radiation Therapy: An Update of the Current Literature.

Osteoradionecrosis (ORN) is a serious long-term complication of head and neck radiotherapy (RT), which is often triggered by dental extractions. It results from avascular aseptic necrosis due to irradiated bone damage. ORN is challenging to treat and can lead to severe complications.

Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders.

Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in the DDC gene and mainly characterized by developmental delay, hypotonia, and oculogyric crises. Early diagnosis is crucial for correct patient management; however, many patients remain misdiagnosed or undiagnosed due to the rarity and clinical heterogeneity of the disorder especially in the milder forms. Here, we applied exome sequencing approach by screening 2000 paediatric patients with neurodevelopmental disorders to identify possible new AADC variants and AADC deficiency patients.

Fragility Score: a REMS-based indicator for the prediction of incident fragility fractures at 5 years.

Background: Accurate estimation of the imminent fragility fracture risk currently represents a challenging task. The novel Fragility Score (FS) parameter, obtained during a Radiofrequency Echographic Multi Spectrometry (REMS) scan of lumbar or femoral regions, has been developed for the non-ionizing estimation of skeletal fragility.

Aims: The aim of this study was to assess the performance of FS in the early identification of patients at risk for incident fragility fractures with respect to bone mineral density (BMD) measurements.

A new standard scoring for interstitial pneumonia based on quantitative analysis of ultrasonographic data: A study on COVID-19 patients.

Objective: To assess the effectiveness of 3 novel lung ultrasound (LUS)-based parameters: Pneumonia Score and Lung Staging for pneumonia staging and COVID Index, indicating the probability of SARS-CoV-2 infection.

Methods: Adult patients admitted to the emergency department with symptoms potentially related to pneumonia, healthy volunteers and clinical cases from online accessible databases were evaluated. The patients underwent a clinical-epidemiological questionnaire and a LUS acquisition, following a 14-zone protocol.

Minimally invasive approach supported by the use of mouthguard in the treatment of sport-related root fracture: a case report.

All sporting activities have an associated risk of orofacial injuries that can affect the oral health-related quality of life (OHRQoL). A custom-made mouthguard can be used as an adjuvant treatment for faster recovery of an athlete to resume sporting activities. This case report described a minimally invasive approach by use of mouthguard for treating sport-related root fracture and its impact on OHRQoL.

Actinomycosis of the Tongue: A Case Report and Review of Literature.

: Actinomycosis of the tongue is an uncommon, suppurative infection of lingual mucosa, caused by actinomyces. The clinical diagnosis may present serious difficulties because of its ability to mimic other lesions, including both benign and malignant neoplasms. : Here, we describe the case of a 52-years-old patient affected by an asymptomatic, tumor-like tongue swelling, then diagnosed as actinomycosis.

Automatic ultrasound technique to measure angle of progression during labor.

Objective: To evaluate the accuracy and reliability of an automatic ultrasound technique for assessment of the angle of progression (AoP) during labor.

Methods: Thirty-nine pregnant women in the second stage of labor, with fetus in cephalic presentation, underwent conventional labor management with additional translabial sonographic examination. AoP was measured in a total of 95 acquisition sessions, both automatically by an innovative algorithm and manually by an experienced sonographer, who was blinded to the algorithm outcome.

Elaboration of a nomogram to predict nonsentinel node status in breast cancer patients with positive sentinel node, intraoperatively assessed with one step nucleic amplification: Retrospective and validation phase.

Background: Tumor-positive sentinel lymph node (SLN) biopsy results in a risk of non sentinel node metastases in micro- and macro-metastases ranging from 20 to 50%, respectively. Therefore, most patients underwent unnecessary axillary lymph node dissections. We have previously developed a mathematical model for predicting patient-specific risk of non sentinel node (NSN) metastases based on 2460 patients.

Interventions for treating oral leukoplakia to prevent oral cancer.

Background: Oral leukoplakia is a relatively common oral lesion that, in a small proportion of people, precedes the development of oral cancer. Most leukoplakias are asymptomatic; therefore, the primary objective of treatment should be to prevent onset of cancer. This review updates our previous review, published in 2006.

Overwintering of Rabies Virus in Silver Haired Bats (Lasionycteris noctivagans).

Silver-haired bats, (Lasionycteris noctivagans) are semi-colonial, migratory tree bats that have infrequent contact with humans. Despite the species rarity, the L. noctivagans rabies variant is the most commonly reported rabies virus variant (RABV) in domestically acquired human rabies cases in the US.

An Advanced Quantitative Echosound Methodology for Femoral Neck Densitometry.

The aim of this paper was to investigate the clinical feasibility and the accuracy in femoral neck densitometry of the Osteoporosis Score (O.S.), an ultrasound (US) parameter for osteoporosis diagnosis that has been recently introduced for lumbar spine applications.

Basal Cell Carcinoma of the Nipple in a Male Patient: A Particular Case Report.

Basal cell carcinoma (BCC) is a common skin cancer worldwide. However, BCC of the nipple and areola complex is rare. Men are more affected than women.

Automatic Echographic Detection of Halloysite Clay Nanotubes in a Low Concentration Range.

Aim of this work was to investigate the automatic echographic detection of an experimental drug delivery agent, halloysite clay nanotubes (HNTs), by employing an innovative method based on advanced spectral analysis of the corresponding "raw" radiofrequency backscatter signals. Different HNT concentrations in a low range (5.5-66 × 10 part/mL, equivalent to 0.

A novel ultrasound methodology for estimating spine mineral density.

We investigated the possible clinical feasibility and accuracy of an innovative ultrasound (US) method for diagnosis of osteoporosis of the spine. A total of 342 female patients (aged 51-60 y) underwent spinal dual X-ray absorptiometry and abdominal echographic scanning of the lumbar spine. Recruited patients were subdivided into a reference database used for US spectral model construction and a study population for repeatability and accuracy evaluation.

A new clinical cut-off of cytokeratin 19 mRNA copy number in sentinel lymph node better identifies patients eligible for axillary lymph node dissection in breast cancer.

Aims: Cytokeratin 19 (CK19) mRNA copy number predicts the probability of tumour load in axillary lymph nodes (ALN) and can help in decision-making regarding the axillary dissection. The purpose of this study was to define a new cut-off of CK19 mRNA copy number using the one-step nucleic acid amplification (OSNA) assay on metastatic sentinel lymph nodes (SLN) in order to identify cases at risk of having one or more positive ALN.

Methods: 1296 SLN from 1080 patients were analysed with the OSNA assay.

Acupuncture and burning mouth syndrome: a pilot study.

Burning mouth syndrome (BMS) is a chronic condition most common in middle-aged and elderly women, with prevalence rates in the general population ranging from 0.5% to 5%. Defined by the International Headache Society as "an intraoral burning sensation for which no medical or dental cause can be found," BMS is considered a form of neuropathic pain.