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Background: This study investigates the effects of erbium, chromium:yttrium-scandium-gallium-garnet (Er,Cr:YSGG) laser irradiation and hand instrumentation on the attachment of periodontal ligament (PDL) fibroblasts to periodontally involved root surfaces.Methods: Twenty-four single-rooted periodontally involved human teeth (test groups), and six healthy premolar teeth extracted for orthodontic reasons (control group) were included in this study. A total of 45 root slices were obtained from all selected teeth and assigned to the following five groups: 1) untreated healthy group (+control); 2) untreated periodontally diseased group (-control); 3) hand instrumentation group (scaled Gracey); 4) laser I, Er,Cr:YSGG laser irradiation setting-I (short pulse); and 5) laser II, Er,Cr:YSGG laser irradiation setting-II (long pulse). All of the root slices were autoclaved in phosphate buffered saline and slices were placed onto cell culture inserts. PDL fibroblasts were placed at the density of 80,000 cells on the root plate (5 x 6 mm) and incubated for 48 hours and transferred to 24-well plates. The attachment PDL fibroblasts on the root plates were observed using confocal microscopy (at 12 hours and on days 3 and 7) and scanning electron microscopy (at 12 hours and day 3). 3-(4,5-dimethyl-thiazol-2-yl)-2,5-diphenyl-tetrazolium bromide assay was performed on day 5 for PDL fibroblast survival.Results: 3-(4,5-dimethyl-thiazol-2-yl)-2,5-diphenyl-tetrazolium bromide assay shows that whereas laser-treated specimens showed a significantly higher cell density, the Gracey-treated group showed a lower cell density compared to the positive control group (P <0.05). Based on confocal microscopy, apparent reduction was observed in the attachment of PDL cells to the periodontally diseased root surfaces. In the laser and Gracey groups, cells looked well-oriented to the root surfaces. Laser-treated groups provided suitable environment for cell adhesion and growth. Laser I treatment was more favorable for the attachment of PDL compared to scaled Gracey, laser II, and even healthy root surfaces.Conclusion: The results of the study indicate that short-pulse laser setup (laser I) looks more promising regarding the attachment, spreading, and orientation of PDL cells. [ABSTRACT FROM AUTHOR]

This report describes a case of immediate hypersensitivity reaction associated with the mercury component of amalgam restorations. The release of mercury induced an acute reaction which resulted in erythematous lesions, severe burning and itchy sensation and difficulty in breathing. Skin patch test results indicated a very strong positive reaction to mercury. Amalgam restorations were replaced with composite filling material. The patient, her family and her dental practitioner were strictly advised to use alternative restorative materials in case of a need for restoration. [ABSTRACT FROM AUTHOR]

The PLEKHG5 gene encodes a protein that induces the nuclear factor kappa B (NFjB) signaling pathway. Biallelic pathogenic variants in PLEKHG5 have been linked to distal spinal muscular atrophy IV and intermediate axonal neuropathy. We present a six-year-old girl complaining of difficulties climbing stairs and getting up from crouching. Neurological examination revealed a symmetrical proximal limb weakness with milder distal weakness. While the patellar reflexes were absent, the biceps reflexes were hyporeflexic. Electromyography showed a mild denervation pattern in the proximal muscle groups with normal nerve conduction studies. MLPA in SMN1 showed no abnormalities. Exome sequencing revealed a homozygous missense variant in PLEKHG5 (c.1399G>A: NM_020631.4 [p.Glu467Lys]). Their unaffected mother and father were both carriers. [ABSTRACT FROM AUTHOR]

Hereditary neuropathy is a term used for Mendelian-inherited neuropathies, genetically and clinically heterogeneous groups of disorders. This initiative aims to create a national network that can identify variants in subjects with hereditary neuropathy, explore the pathogenicity of these discovered variants, create deep phenotype profiles of patients with pathogenic variants in genes associated with hereditary neuropathy, and discover new genes/variants associated with hereditary neuropathies. Patients with clinically diagnosed neuropathy are tested after acquired causes are excluded. If Charcot-Marie-Tooth disease is suspected, patients are first tested for PMP22 gene copy number (usually via MLPA). A genetic panel is ordered once that has been excluded. Patients with pathogenic variants in known hereditary neuropathy genes are included in a phenotyping plan that includes multiple clinical variables such as the age of onset, ethnicity, consanguinity, inheritance pattern, family history, weakness pattern, musculoskeletal abnormalities, creatine kinase level, cognition and respiration status, nerve conduction studies, and EMG findings. The disease burden is further assessed by disease-specific instruments. In patients with negative hereditary neuropathy or neuromuscular panel results (may also include patients with negative specific single gene test), we will use WES to further analyze these pathogenic variant-negative patients. The first cohort of patients was generated from the Izmir center. All patients were diagnosed clinically between April 2020 and March 2023. These cases were either seen by our experts in our centers or their clinical information, electrophysiological and radiological records, and pathological findings were provided by local paediatric neurologists. So far, we have been able to identify 30 patients with PMP22 deletions/duplications. We have also been able to detect variants in 49 patients in 21 genes (PMP22, MFN2, MPZ, SH3TC2, GJB1, LITAF, GDAP1, HSPB1, DNM2, INF2, FGD4, DNAJB2, HINT1, MCM3AP, DYNC1H1, IGHMBP2, SACS, BSCL2, WARS, PRX, SCN9A). The pathogenicity of these variants and the phenotypes of the patients are being studied. In a very similar design to our setup, several referral centers throughout Turkey are providing service to patients and local paediatric neurologists for the diagnosis of hereditary neuropathies. As a next step, our collaborative centers in Istanbul, Ankara, Samsun, Mersin, and Afyon will start enrolling patients by the end of 2023. In parallel with the advance of molecular and genetic technologies, the number of hereditary neuropathies is increasing, and complex genetic variants and novel phenotypes are being reported. Collecting information on phenotypes, natural history, and genetic variants for a rare neuromuscular disease requires a multidisciplinary approach involving collaboration with medical professionals, patient advocacy groups, and geneticists or molecular biologists. Combining traditional and novel neurological techniques with computerized analysis and data sharing between centers is needed to advance the diagnosis and development of precision medicine in peripheral neuropathies. [ABSTRACT FROM AUTHOR]