DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability.

In this study we provide clinical and molecular presentation of two new patients with DSE related mcEDS. Analysing clinical exome data, a homozygous pathogenic DSE variant, c.1150_1157del p.(Pro384Trpfs*9), was identified in a 32 year old man with bilateral congenital talipes equinovarus, characteristic facial features, myopia, hyperextensible skin at the elbows, significant palmar wrinkling, bilateral inguinal hernias and chronic leg, back and joint pain. Electron microscopical examination of skin biopsy showed changes consistent with mild compensatory elastic fibre hypertrophy and mildly loose collagen bundles. The variant is predicted to result in a frameshift and introduction of a premature termination codon in the final exon of the DSE gene, anticipated to lead to the loss of approximately 60% of the normal reading frame. The second patient has a phenotype consistent with previously reported cases of DSE associated musculocontractural EDS. A novel homozygous missense DSE variant of uncertain clinical significance was detected. This case study further delineates the DSE associated mcEDS phenotype and illustrates absence of major cutaneous, cardiovascular, renal and respiratory features, which supports previous suggestions that patients with DSE associated mcEDS present with a milder phenotype compared to those with CHST14 mutations. PMID: 31655143 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research

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Quick question. Sorry about another salary thread but I am asking a specific question. Anybody working in private practice in NYC or within 30 min driving distance? Please feel free to post here or PM me about starting salary range. Thank you.
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Pain Medicine Source Type: forums
It's that time of year. How much Xmas bonus do you fork out for your staff, manager, mid levels, etc?
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Pain Medicine Source Type: forums
Publication date: Available online 14 December 2019Source: Orthopaedics &Traumatology: Surgery &ResearchAuthor(s): Alessio Bernasconi, Cecilia Iervolino, Rosa D’Alterio, François Lintz, Shelain Patel, Francesco SadileAbstractBackgroundThe role of subtalar arthroereisis (STA) for treating flexible flatfoot (FFF) in children is controversial. We hypothesized that (1) STA provided significant radiographic correction of low longitudinal arch and forefoot abduction in paediatric FFF and that (2) mid-term clinical outcomes were satisfactory and comparable to a normal population.MethodsA retrospective compara...
Source: Orthopaedics and Traumatology: Surgery and Research - Category: Orthopaedics Source Type: research
We report the clinical findings, imaging features, surgery and histological analyses of primary synovial chondromatosis in glenohumeral joint, biceps tendon sheath and subcoracoid bursa in a child, aged 14. Primary synovial chondromatosis is characteristized by multiple calcified nodules in joints, tendons or bursa areas. The condition is more usual in large joints, in particular in lower extremities. It may be symptomless until the volume of chondromatosis has increased to such an extent that it results in pain, locking symptom or palpable mass. The treatment is removal of the loose bodies and potentially synovectomy, in ...
Source: Journal of Clinical Orthopaedics and Trauma - Category: Orthopaedics Source Type: research
CONCLUSIONS: The use of this novel cartilage restoration surgical technique provides excellent clinical, functional, and MRI-based outcomes in young, active individuals with full-thickness cartilage or osteochondral defects. LEVEL OF EVIDENCE: Level IV-Therapeutic case series. PMID: 31835970 [PubMed - in process]
Source: Journal of Orthopaedic Surgery - Category: Orthopaedics Authors: Tags: J Orthop Surg (Hong Kong) Source Type: research
CONCLUSION: TPTD treatment prevented ovariectomy-induced bone loss and ovariectomy-induced mechanical hyperalgesia in hind limbs, and it suppressed CGRP and TRPV1 expressions in DRG neurons. These results suggest that TPTD is useful for the treatment of osteoporotic pain in postmenopausal women. PMID: 31833446 [PubMed - in process]
Source: Journal of Orthopaedic Surgery - Category: Orthopaedics Authors: Tags: J Orthop Surg (Hong Kong) Source Type: research
ConclusionsOral zinc therapy was found to be an adjunct in reducing burning sensation and lesion size in symptomatic OLP.
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research
ConclusionsOral complications in HSCT survivors are common and may include GVHD, dry mouth, and taste changes. All patients must be screened prior to HSCT and followed up by a dentist periodically to assess the oral health status and modify treatment, if needed.
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research
This study was designed to compare taste perception before and after successful treatment in BMS.Study DesignA retrospective study was conducted at a private oral medicine clinic. Thirty-two patients diagnosed with primary BMS, who had spatial taste testing with 4 supersaturated salt (1 M sodium chloride [NaCl]), sweet (1 M sucrose), sour (0.032 M citric acid), and bitter (0.001 M quinine hydrochloride) solutions and 50% ethanol, with self-rated pain intensity on a generalized labeled magnitude scale (gLMS) at the initial and final visits, were included in the study. Analysis was performed with Wilcoxon's signed-rank test,...
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research
Publication date: January 2020Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, Volume 129, Issue 1Author(s): Sumeia Gamal Werfalli, Mark Drangsholt, Michael Martin, Linda LerescheObjectivesBurning mouth syndrome (BMS) is a chronic pain condition. Xerostomia is a common complaint among patients with BMS. However, previous studies have reported inconsistent findings regarding salivary flow rate reduction among these patients. The aim of this study was to examine unstimulated whole saliva (UWS) and stimulated whole saliva (SWS) flow rates, degree of mucosal hydration, and xerostomia in female patients w...
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research
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