A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1

Spondyloepimetaphyseal dysplasias (SEMDs) belong to a clinically and genetically heterogeneous group of inherited skeletal disorders defined by a defect in the growth and shape of vertebrae, epiphyses and metaphyses. Rhizomelic SEMD is characterized by a disproportionate small stature caused by severe shortening and deformation of the limbs’ proximal bones, with the cranio-facial sphere unaffected. We report a second individual, an 8-year-old girl, with autosomal recessive rhizomelic SEMD associated with a homozygous exonic missense variant, c.226G > A p.(Glu76Lys), in GNPNAT1 identified by trio genome sequencing. Our data corroborate the recent findings of Ain et al. and further delineate the clinical and radiographic features of this form of SEMD associated with rhizomelic dysplasia while outlining a potential hotspot in this newly described genetic disorder.     

Discordance Between Clinical and Pathological Staging and Grading in Upper Tract Urothelial Carcinoma

IntroductionThis study aimed to evaluate the concordance in tumor stage and grade between ureteroscopic (URS) biopsy and radical nephroureterectomy (RNU) in patients with upper tract urothelial carcinoma (UTUC).Patients and MethodsRecords of 1,214 UTUC patients who had undergone URS biopsy followed by RNU were included. Univariable and multivariable logistic regression analyses were performed to identify factors contributing to the pathological upstaging.ResultsThe concordance between URS biopsy-based clinical and RNU pathological staging was 34.5%. Clinical understaging occurred in 59.5% patients. Upstaging to muscle-invasive disease occurred in 240 (41.7%) of 575 patients diagnosed with ≤cT1 disease. Of those diagnosed with muscle-invasive disease on final pathology, 89.6% had been clinically diagnosed with ≤cT1 disease. In the univariable analyses, computed tomography urography (CTU)–based invasion, ureter location, hydronephrosis, high-grade cytology, high-grade biopsy, sessile architecture, age, and women sex were significantly associated with pathological upstaging (P < .05). In the multivariable analyses, CTU-based invasion and hydronephrosis remained associated with pathological upstaging (P < .05). URS biopsy-based clinical and pathological gradings were concordant in 634 (54.2%) patients. Clinical undergrading occurred in 496 (42.4%) patients.ConclusionsClinical understaging/undergrading and upstaging to muscle-invasive disease occurred in a high proportion of UTUC patients undergoing RNU. Despite the inherent selection bias, these data underline the challenges of accurate UTUC staging and grading. In daily clinical practice, URS biopsy and CTU offer the most accurate preoperative information albeit with limited predictive value when used alone. These findings should be considered when utilizing preoperative, risk-adapted strategies.     

Pulmonary Functions in Patients With Chronic Neck Pain: A Case-Control Study

ObjectiveThe purpose of the study was to investigate pulmonary functions of patients with chronic neck pain and compare them with those of asymptomatic controls.MethodsThis case-control study was conducted with 25 patients with chronic neck pain (age, 26.84 ± 7.89 years) and 27 age-matched asymptomatic controls (age, 25.96 ± 7.13 years). Pulmonary function tests were performed using spirometry (Quark PFT, COSMED, Rome, Italy). Forced vital capacity (FVC), forced expiratory volume in the first second (FEV₁), forced expiratory flow at 25% to 75% vital capacity, peak expiratory flow, maximum voluntary ventilation, and the FEV₁/FVC ratio were measured and are expressed as (%) predicted value for patients with chronic neck pain and asymptomatic controls.ResultsThe chronic neck pain group had lower FEV₁ (P = .015), FVC (P = .029), forced expiratory flow at 25% to 75% vital capacity (P = .040), and maximum voluntary ventilation (P = .042) compared with asymptomatic controls; however, FEV₁/FVC (P = .470) and peak expiratory flow (P = .183) were similar in both groups.ConclusionThese results demonstrated that dynamic lung volumes were lower in patients with chronic neck pain compared with asymptomatic controls.     

Intraoperative complications in temporomandibular joint arthroscopy: A retrospective observational analysis of 899 arthroscopies

This study aims to describe intraoperative complications in temporomandibular joint arthroscopy in patients with Wilkes stage II, III y IV. An analytic observational retrospective study. Inclusion criteria were patients who had no improvement with conservative treatment diagnosed as Wilkes II stage to Wilkes stage IV, and no previous TMJ surgery. Exclusion criteria were disc perforation observed by arthroscopy. Data collected from 458 patients (899 arthroscopies). Of this population, 772 (85.8%) arthroscopies correspond to women, and 127 men (14.1%). Of the sample evaluated, 368 (40.9%) were arthroscopic without discopexy, and 531 (59%) were arthroscopic with discopexy using resorbable pins. In total, 330 complications (36.7%) were found, of which 293 (32.5%) were implicated with iatrogenic damage to the anatomy, and 36 (4%) were associated with some instrument failure. Of this total number of complications, 191 (51.9%) of 386 corresponded to the arthroscopy without discopexy group and 138 (25.9%) of 531 corresponded to the arthroscopy with discopexy group. These study data suggest that the main complications were irrigation fluid extravasation (p = 0.000), and intra-articular bleeding (p = 0.001) followed by pin problems (p = 0.001) in cases of arthroscopies with discopexy. Within the limitations of the study it seems that the learning curve has an important influence on the occurrence of complications. At the beginning of the learning curve, complications are more related to anatomy. Afterwards, the rate of complications decreases but they are more related to the instruments used in advanced techniques. Therefore, proper training and a wide learning curve can reduce the risk of complications and if any occur, more timely management could be given.