Joint dysplasias always represent a great challenge for prosthetic surgeons. The common altered anatomical landmarks and the subversion of the anatomy of soft tissues surrounding the dysplastic joint are problems that can cause difficulties if approached with standard methods. Together with the resolution of functional issues related to dysplasia, the understanding of the underlying cause is fundamental. DNA analysis is generally performed via blood sampling; however, this might lead to misdiagnosis in case mosaicism is not detected in blood components. The etiology of genetic diseases can be further examined by means of whole exome sequencing and the detection of somatic mosaicism, recognized as a fundamental contributor to genetic diseases themselves. In this study, the clinical case of a patient suffering from a rare unilateral dysplasia localized to the left coxo-femoral and glenohumeral joint and treated at our center for reverse shoulder arthroplasty is reported. By virtue of the glenohumeral anatomical peculiarities, we had to devise a hybrid custom-made and navigated approach by means of a custom-made prosthetic stem and dedicated patient-specific instrumentation, using intraoperative GPS navigation for glenoid prosthesis. In addition, a genetic study was conducted on intraoperatively harvested bone marrow, which proved to be crucial in understanding the epigenetic basis of dysplasia. In fact, the patient resulted negative in blood but positive for a truncating variant of PTEN c.781C > T (p.(Gln261 *)) in 12% of the sequence analyzed in the bone marrow.

Background: Stress is a motivator to consume alcohol, a well-documented relapse risk, and is known to differentially affect biological and psychological processes as people age.Objectives: Because alcohol consumption is known to acutely decrease stress and increase affect, this study examined differences in ratings of stress and affect in middle-aged versus younger adults who regularly consume alcohol.Methods: A sample of younger (n = 17) and middle-aged (n = 18) drinkers was studied during a 3-day period of typical alcohol consumption. Resting levels of respiratory sinus arrhythmia (RSA) were measured during a baseline study visit since RSA is a well-documented biomarker of stress and is known to decrease with age. Ecological momentary assessment (EMA) survey ratings (n = 1,598) were modeled using hierarchical regression to assess differences in stress and affect throughout the day between the two age groups.Results: As anticipated, middle-aged participants had lower RSA than those who were younger. Although the middle-aged adults showed overall lower stress, generally they also experienced higher affect than the younger adults. Middle-aged adults experienced a significant reduction in stress following drinking while no such effect was observed in the younger adults.Conclusions: To our knowledge, this is the first investigation using EMA methodology to examine stress and affect between younger and middle-aged adults who habitually consume alcohol. These cross-sectional data suggest potential momentary stress relief to engaging with moderate alcohol consumption in a middle-aged population. Future work must address this important motivational process in curtailing maintenance of alcohol consumption and preventing escalation of consumption.

BACKGROUND: Reverse total shoulder arthroplasty (rTSA) has begun to challenge the place of anatomic total shoulder arthroplasty (aTSA) as a primary procedure for certain indications. One purported benefit of aTSA is improved postoperative range of motion (ROM) compared to rTSA especially in internal rotation; however, it is unclear whether aTSA can provide patients with significant preoperative stiffness superior ROM compared to rTSA. Our purpose was to compare clinical outcomes of aTSA and rTSA performed in stiff vs. non-stiff shoulders for rotator cuff intact (RCI) glenohumeral osteoarthritis (GHOA).
METHODS: A retrospective review of an international shoulder arthroplasty database identified 1608 aTSAs and 600 rTSAs performed for RCI GHOA with minimum 2-year follow-up. Defining preoperative stiffness as ≤ 0° of passive external rotation (ER), we matched: (1) stiff aTSAs (n = 257) 1:3 to non-stiff aTSAs, (2) stiff rTSAs (n = 87) 1:3 to non-stiff rTSAs, and (3) stiff rTSAs (n = 87) 1:1 to stiff aTSAs. We compared ROM, outcome scores, and the rate of complications and revision surgery at latest follow-up.
RESULTS: Despite stiff aTSAs having poorer preoperative ROM and functional outcome scores for all measures assessed (P < .001 for all), only poorer postoperative active abduction (113 ± 27° vs. 128 ± 35°; P < .001), active ER (39 ± 18° vs. 50 ± 20°; P < .001), and passive ER (45 ± 17° vs. 56 ± 18°; P < .001) persisted postoperatively compared to the non-stiff cohort. Similarly, stiff rTSAs had poorer preoperative ROM and functional outcome scores for all measures assessed compared to non-stiff rTSAs (P ≤ .044), but only poorer active abduction (108 ± 24° vs. 128 ± 29°, P < .001), active ER (28 ± 17° vs. 42 ± 17°, P < .001), and passive ER (36 ± 15° vs. 48 ± 17°, P < .001) persisted. When comparing stiff rTSAs to matched stiff aTSAs, no significant differences in preoperative ROM or functional outcome scores were found. However, stiff aTSAs had greater postoperative active internal rotation score (4.8 ± 1.5 vs. 4.2 ± 1.7, P = .022), active ER (40 ± 19° vs. 28 ± 17°, P < .001), and passive ER (46 ± 18° vs. 36 ± 15°, P = .001). Postoperative outcome scores were similar across all matched cohort comparisons despite motion differences. The rate of complications and need for revision surgery did not differ between any group comparisons.
CONCLUSIONS: Patients with RCI GHOA who have preoperative rotational stiffness have poorer postoperative ROM compared with non-stiff patients following both aTSA and rTSA, but similar functional outcome scores. Notably, preoperative limitations in passive ER do not appear to be a limitation to utilizing aTSA. Indeed, patients with limited preoperative ER treated with aTSA had greater postoperative internal rotation and ER compared to those treated with rTSA.

BACKGROUND: Revision shoulder arthroplasty often requires management of glenoid bone defects. Options include using allograft, harvesting iliac crest autograft, or using augmented metal components. The purpose of this study is to report outcomes of revision shoulder arthroplasty requiring management of glenoid bone defects with femoral head allograft in a large cohort of patients using a single reverse shoulder implant system and compare them to a matched cohort based on the indication for surgery. Outcomes of patients who had successful glenoid reconstruction were compared to those that required a re-revision, and to a control group that was revised without the need for bone graft.
METHODS: This was a retrospective review of data collected from 2009 to 2018. There were 36 patients in the bone graft group and 52 in the control group. All patients underwent revision to a reverse shoulder arthroplasty to manage a failed total shoulder arthroplasty (n = 29 and 11), hemiarthroplasty (n = 1 and 24), or reverse shoulder arthroplasty (n = 6 and 17). All patients had a minimum of 2 yr of clinical follow-up. The primary endpoint was survival of baseplate fixation. Secondary outcomes included range of motion and functional outcome scores. Patients that had recurrent baseplate failure and were re-revised were compared to patients with bone graft that did not require additional surgery, and to patients who were revised without the need for bone graft. Patients who required revisions for reasons other than recurrent baseplate failure were also recorded.
RESULTS: Five of 36 (14%) patients had recurrent baseplate failure. Mean time to failure was 12 mo. Three of 5 had successful re-implantation of another baseplate. Two of 5 were revised to a hemi arthroplasty after failure of their revisions. Preoperative American Shoulder and Elbow Surgeons scores were 31 in the grafted patients that did not require re-revision, 39 in the grafted patients that required re-revision, and 33 in the control group. Final American Shoulder and Elbow Surgeons scores were 64, 36, and 56, respectively. One patient required revision surgery not related to baseplate failure. There were no baseplate failures in the control group.
CONCLUSIONS: The use of femoral head allograft to manage glenoid bone defects in the revision setting produces predictable improvement in functional outcomes that is not inferior to those in patients revised without bone graft. However, there is a 14% rate of baseplate failure.

OBJECTIVE: Recurrent spontaneous abortion (RSA) is a condition which is defined as three consecutive pregnancy losses prior to 20 weeks from the last menstrual period. Progesterone is a steroid hormone that has an essential role in the implantation and maintenance of pregnancy. The progesterone signaling is performed by nuclear progesterone receptors (NPRs) and membrane progesterone receptors (mPR). The aim of this study was to analyze gene expression of mPR-α, mPR-β and NPR in the endometrium of patients with a history of RSA compared to normal fertile women.
RESULTS: In this study, endometrial samples were obtained from 10 women with a history of RSA and 10 fertile women during days 10-14 of menstrual cycle. Relative expression of mPR-α, mPR-β and NPR genes were studied by a quantitative real time polymerase chain reaction (qRT-PCR) and compared between the two groups. The mean relative expression of mPR-β gene was significantly lower in the case group compared to the fertile women (p < 0.05). However, the gene expression of mPR-α and NPR showed no significant difference between two groups. The findings suggest a reduction of endometrial gene expression of mPR-β in RSA patients may play an important role in pathogenesis of RSA.

BACKGROUND: Osteoporotic tibial plateau fractures (TPFs) are difficult to treat with either open reduction internal fixation (ORIF) or acute total knee arthroplasty (TKA). They have high complication rates, poor outcomes and often fail in the short- to mid-term. We investigated the use of impaction bone grafting (IBG) as an adjunct to stabilise the fracture in a cohort of osteoporotic TPFs.
METHODS: Nine consecutive osteoporotic TPFs were surgically stabilised with ORIF augmented with IBG or with IBG alone (one pure depression fracture) using on average allograft from 2 femoral heads/case (range 1-4 heads or 25-100 cm(3)). The median bone mineral density T-score of the patients was -2.9 (-2.5 to -4.5). All patients were mobilised weight-bearing as tolerated immediately after surgery and had regular follow-up to a minimum of 2 years where functional scores were taken and gait was assessed. Fracture reduction was assessed on plain radiographs and computed tomography (CT) scans; maintenance of fracture reduction was monitored using plain radiographs, CT and radiostereometric analysis (RSA). Bone graft remodelling was assessed by comparison of immediate post-operative CT scans with scans at a minimum of 1 year.
RESULTS: All surgeries were uneventful. All patients progressed to full weight bearing within 6 weeks of surgery and regained a normal gait by 3 months. Seven fractures healed with a cranio-caudal migration of less than 3mm (range 0-2.6mm using RSA and 0-2mm using CT). Two fractures had an isolated posterolateral fragment depression of 13.5mm and 9 mm, respectively, which did not affect the overall joint alignment or clinical outcomes at short-term follow-up. At latest CT follow-up, on average 51% of the graft area (range 36-70%) had remodelled into new host bone.
CONCLUSIONS: Impaction bone grafting shows promising results as an adjunct to the surgical stabilisation of osteoporotic TPFs. In this case series the technique provided enough fracture stability for patients to mobilise weight-bearing as tolerated immediately after surgery and achieve full weight-bearing by the sixth postoperative week. There was no failure of fixation and 7 of the 9 cases healed with minimal fracture displacement.