Shoulder Dysfunction in Parkinson Disease: Review of Clinical, Imaging Findings and Contributing Factors.

This study aimed to review shoulder clinical and imaging findings in Parkinson's disease (PD), focusing on the significance of timely diagnosis and management of shoulder dysfunction in PD for the prevention of shoulder-related complications. A bibliographical search was employed, using "Parkinson's" and "Shoulder Dysfunction" as keywords. A Magnetic Resonance Imaging, twenty clinical and three US studies were selected as relevant to shoulder dysfunction in PD. Shoulder pain, frozen shoulder and arm swing asymmetry are the most prevalent clinical findings that may antedate cardinal PD symptoms. Supraspinatus tendon thickening or tearing, adhesive capsulitis, acromioclavicular changes, bursa and joint effusion are common shoulder MRI or US-detected abnormalities in mild or severe PD stages. Fractures due to falls or osteoporosis are secondary shoulder pathologies. Higher ipsilateral Unified Parkinson's Disease Rated Scale (UPDRS) scores, rigidity, tremor, and bradykinesia are associated with frozen shoulder. Disease duration, rigidity, and falls are contributing factors for tendon tears, adhesive capsulitis, and fractures respectively. When common symptoms, such as pain and frozen shoulder are unaccounted for by orthopedic or other local primary pathology, they might indicate underlying early PD. Timely diagnosis and appropriate early management of PD may, in turn, help delay or prevent shoulder-related complications.

Evaluation of the Quality of Life and the Quality of Sleep of postmenopausal osteoporotic women, without evidence of an osteoporotic fracture, who attended an outpatient DXA scan service.

OBJECTIVES: The present study aimed to investigate whether impairment of health-related quality of life (HRQOL) and possibly, the quality of sleep (Sleep Quality - SQ), of osteoporotic women, may occur, even before the onset of an osteoporotic fracture. METHODS: The study included 109 women, divided (DXA) into two groups (age-matched): the Control Group (n=68; normal and osteopenic) and the Patient Group (n=41; osteoporotic). Review of medical history of the participants, was followed by evaluation of HRQOL and SQ with the EQ-5D-3L and the PSQI questionnaires, respectively. RESULTS: There was no significant difference between the two groups (Control vs. Patient) in terms of average HRQOL and SQ, as measured by the EQ-5D-3L Questionnaire (0.73 vs. 0.70, p>0.05) and the PSQI Index value (5.56 vs. 6.29, p>0.05), respectively. A high percentage of patients was estimated as having a poor SQ (52.9% of the Control Group and 46.3% of the Patient Group, p>0.05). Increasing age, with or without the presence of osteoporosis, seemed to lead to worst QoL (OR<1.00, p<0.05). CONCLUSIONS: Our study documented homogeneity in HRQOL and SQ, between the two study groups. The strongest predictor for the HRQOL was age (for each year of age increase, the probability of excellent HRQOL significantly decreased).

Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass.

Mosaicism, a state in which an individual has two or more genetically distinct populations of cells in the body, can be difficult to detect because of either mild or atypical clinical presentation and limitations in the commonly used detection methods. Knowledge of the role of mosaicism is limited in many skeletal disorders, including osteopathia striata with cranial sclerosis (OSCS) and cleidocranial dysplasia (CCD). We used whole-genome sequencing (WGS) with coverage >40× to identify the genetic causes of disease in two clinically diagnosed patients. In a female patient with OSCS, we identified a mosaic 7-nucleotide frameshift deletion in exon 2 of AMER1, NM_152424.4:c.855_861del:p.(His285Glnfs*7), affecting 8.3% of the WGS reads. In a male patient with CCD, approximately 34% of the WGS reads harbored a 3710-basepair mosaic deletion, NC_000006.11:g.45514471_45518181del, starting in intron 8 of RUNX2 and terminating in the 3' untranslated region. Droplet digital polymerase chain reaction was used to validate these deletions and quantify the absolute level of mosaicism in each patient. Although constitutional variants in AMER1 and RUNX2 are a known cause of OSCS and CCD, respectively, the mosaic changes here reported have not been described previously. Our study indicates that mosaicism should be considered in unsolved cases of skeletal dysplasia and should be investigated with comprehensive and sensitive detection methods. © 2022 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

Septic Arthritis Complicating a Gout Flare: Report of Two Cases and Review of the Literature.

Objective: To highlight potential pitfalls in diagnosis and management of patients with concomitant gout and septic arthritis. Methods: Presentation of two patients with concomitant gout and septic arthritis, the latter caused by Streptococcus agalactiae and Staphylococcus aureus, in one patient each. We also reviewed the English language literature on PubMed for similar cases. Results: Data on concurrent gout and septic arthritis is limited. Three case series of 14, 25, and 30 patients each where identified. The coexistence of septic arthritis and gout is an infrequent condition. Clinical appearance of the two diseases may be very similar and the presence of monosodium urate (MSU) crystals per se cannot exclude infection. On the other hand, patients with chronic tophaceous gout are prone to infection of MSU tophi and the development of biofilms on the latter may render the eradication of microbes particularly difficult. Vice versa, persistent activation of the immune system fuelled by the infection, together with prolonged hospitalisation and immobilisation, may increase the risk for a gout flare, thus initiating a vicious cycle. Conclusion: In patients with gout, a high index of suspicion for infection is needed by treating physicians, because septic arthritis is a medical emergency which can lead to rapid joint destruction.

Uncoupling of Bone Turnover may Compromise Skeletal Health of Young Patients With Haemophilia A.

There is evidence that bone mass is decreased and bone metabolism is dysregulated in children with haemophilia (CWH). The objective of this study was to investigate the impact of haemophilia on skeletal health in children, with regards to bone mineral density (BMD) and metabolic bone profile. This study included 51 male CWH A. Dual-energy X-ray absorptiometry (DXA) was performed to assess BMD in lumbar spine (LS) and total body less head (TBLH) and Z-scores were calculated (low BMD Z-score<-2, low-normal BMD Z-score between -1 and -2). Serum levels of osteocalcin (OC), procollagen type I C-terminal propeptide (PICP), bone alkaline phosphatase (bALP), bone tartrate-resistant acid phosphatase 5b (TRAP5b), vitamin D, parathormone (PTH), urinary calcium/creatinine (uCa/uCr) and urine deoxypyridinoline/creatinine (uDPD/uCr) were measured. Mean BMD Z-scores were lower than predicted at both sites of measurement. More specifically, 10% of CWH A had low and 20% low-normal BMD Z-scores in LS, whereas 9.1% had low-normal TBLH BMD Z-scores and there were no patients with low BMD Z-scores at this site of measurement. 36.7% of CWH had low vitamin D levels and 19.6% had a history of fracture. Also, patients with haemophilia had lower OC and higher uDPD/uCr levels while OC positively correlated to BMD Z-scores and uDPD/uCr negatively correlated to BMD Z-scores at both sites. No statistically significant differences were observed with regards to mode of treatment, number of haemorrhages and the presence of target-joints. CWH A had decreased BMD Z-scores at both sites with an uncoupling of bone turnover LS BMD seemed to be more affected than TBLH BMD.

Atypical femoral fracture in a metastatic bone disease patient six months after discontinuation of denosumab received sequentially to previous bisphosphonate therapy - A case report.

Although, both bisphosphonates and denosumab are effective in reducing the risk of skeletal-related events in patients with metastatic bone disease, many concerns were being raised about the possible association between their use and atypical femoral fractures. A case of an atypical femoral fracture in a metastatic bone disease patient, six months after discontinuation of long-term zoledronic acid therapy and sequential treatment with denosumab is reported. After extensive laboratory and imaging examination, the fracture was classified as atypical and it was finally treated with discontinuation of denosumab, long cephalomedullary interlocking nailing and vitamin D administration. Sequential treatment with bisphosphonates and denosumab in patients with metastatic bone disease, may lead to an overlapping treatment effect, increasing bone suppression and the risk of atypical femoral fracture. In addition, discontinuation of denosumab may activate bone remodeling units in an area with microdamage accumulation in cortical bone caused by the previous bone suppression from the antiresorptive treatment. The activation of bone remodeling units may accelerate the occurrence of the atypical femoral fractures.

Teriparatide Treatment in Patients with Pregnancy- and Lactation-Associated Osteoporosis.

Pregnancy- and lactation-associated osteoporosis (PLO) is a rare disease, presenting in most cases with severe back pain due to low energy vertebral fractures (VFs). Our purpose was to assess the effect of teriparatide (TPTD) vs. conventional management on areal bone mineral density (aBMD) and trabecular bone score (TBS) in patients with PLO. A multicenter retrospective cohort study concerning premenopausal women with PLO. Nineteen women were treated with TPTD (20 µg/day) (group A) plus calcium and vitamin D and eight women with calcium and vitamin D only (group B) for up to 24 months. The primary end-point was between group differences in lumbar spine (LS) and total hip (TH) aBMD, and TBS at 12 and 24 months. Patients in group A had sustained a median of 4.0 VFs (3-9) vs. 2.5 VFs (1-10) in group B (p = 0.02). At 12 months, patients on TPTD vs. controls achieved a mean aBMD increase of 20.9  ±  11.9% vs. 6.2  ±  4.8% at the LS (p < 0.001), 10.0  ±  11.6% vs. 5.8  ±  2.8% at the TH (p = 0.43), and 6.7  ±  6.9% vs. 0.9  ±  3.7% in TBS (p = 0.09), respectively. At 24 months, seven patients on TPTD and six controls achieved a mean LS aBMD increase of 32.9  ±  13.4% vs. 12.2  ±  4.2% (p = 0.001). P1NP levels during the first month of TPTD treatment were positively correlated with the 1-year LS aBMD change (r = 0.68, p = 0.03). No new clinical fractures occurred while on-treatment. In patients with PLO, TPTD treatment resulted in significantly greater increases in LS aBMD compared with calcium and vitamin D supplementation at 12 and 24 months.

Progression of Rebound-Associated Vertebral Fractures Following Denosumab Discontinuation Despite Reinstitution of Treatment: Suppressing Increased Bone Turnover May Not Be Enough.

Rebound-associated vertebral fractures (RAVFs) could occur in a minority of the patients who discontinue denosumab. In such patients, denosumab is often reinstituted to rapidly suppress bone turnover and avert the risk of additional fractures. Herein we report the cases of 2 patients who sustained RAVFs, and in whom resuming denosumab treatment did not avert the occurrence of new RAVFs a few months later, despite the suppression of bone turnover markers. It seems that denosumab reinstitution cannot completely eliminate the risk of new RAVFs and that the rebound of bone turnover may not be the sole mechanism to explain this phenomenon.

Atypical Femoral Fracture in a Patient without Bisphosphonate or Denosumab Exposure-A Case Report.

Introduction: Atypical femoral fractures (AFF) are associated with the use of bisphosphonates (BPs) or denosumab. However, few cases that meet the characteristics of these fractures, as established by the American Society of Bone and Mineral Research, have occurred in patients who have never used antiresorptive drugs. Case Report: We report a case of AFF in a 67-year-old woman who had never used antiresorptive medications. The history and comorbidities of the patient, the characteristics of the fracture, and the subsequent treatment are presented. Conclusion: AFFs may occur even in patients who have never been exposed to BPs or denosumab. The absence of antiresorptive osteoporosis therapy and the lack of radiographic focal periosteal reaction in the lateral femoral cortex, as in our case, can make it difficult to detect and prevent the disorder. Prolonged use of proton pump inhibitors and Vitamin D deficiency-related osteomalacia may contribute to the occurrence of these fractures. Further studies are required to accurately understand all inciting factors contributing to the development of AFFs.

Periaortitis and diffuse subendocardial vasculitis in a patient with systemic lupus erythematosus - Lupus flare or a coexisting disease?

Systemic lupus erythematosus (SLE) is a heterogeneous disease with a broad spectrum of clinical manifestations. Periaortitis is a rare disorder which may manifest isolated or in association with other autoimmune diseases, including SLE. Another rare, yet severe cardiovascular manifestation of lupus is diffuse subendocardial vasculitis (DSV), which should be suspected in patients presenting with myocardial hypokinesis, impaired ejection fraction and normal coronary angiography. Cardiovascular Magnetic Resonance (CMR) imaging is crucial to distinguish between DSV and lupus myocarditis, which should also be included in the differential diagnosis. Herein, we describe a case of a female patient with pre-existing SLE, who presented with both periaortitis and DSV, and discuss the diagnostic challenges associated with these rare manifestations.

Ultrasound-guided Platelet-rich Plasma Application Versus Corticosteroid Injections for the Treatment of Greater Trochanteric Pain Syndrome: A Prospective Controlled Randomized Comparative Clinical Study.

Purpose The purpose of this clinical study was to evaluate and compare the effectiveness of ultrasound (US)-guided platelet-rich plasma (PRP) injections versus US-guided corticosteroid injections (CSI) in the treatment of greater trochanteric pain syndrome (GTPS). Methods Between January 2015 and December 2016, 24 patients with GTPS were enrolled and randomized in two groups (A and B). Group A (study group) patients received US-guided PRP injection treatment, while group B (control group) patients received US-guided CSI treatment. Clinical outcomes in both groups were evaluated and compared using the Visual Analogue Scale (VAS) of pain, the Harris Hip Score (HHS) and the presence or absence of complications at 4, 12, and 24 weeks post-injection. The level of significance was set at p<0.05. Results Both groups showed improved scores (VAS and HHS) compared to the pre-injection period, but patients in group A had a statistically significant (p <0.05) decrease in VAS score and a significantly increased HHS at the last follow-up (24 weeks post-injection). No complications were reported. Conclusions In conclusion, patients with GTPS present better and longer-lasting clinical results when treated with US-guided PRP injections compared to those with CSI. Further studies are needed to optimize the technical preparation of PRP, the sample concentration, the number of injections and the time intervals between them, in order to achieve the maximum desired results.

Achilles and Patroclus: Lesser known Physicians of Homer's Iliad.

During the Trojan War, aside from the renowned Greek physicians, Machaon and Podalirius, sons of Asclepius, another two heroes, Achilles and Patroclus, are reported to have been capable of providing medical care to the wounded in the Greek camp.

Impact of target joint and FVIII inhibitor οn bone properties in children with haemophilia A: A peripheral quantitative computed tomography study.

BACKGROUND: Haemophilic children are prone to low bone mass accrual. OBJECTIVE: To assess bone properties in haemophilic children, using peripheral quantitative computed tomography (pQCT) and to correlate findings with clinical data. SUBJECTS/METHODS: Peripheral quantitative computed tomography scan of both radii and tibiae were performed in 31 haemophilic A children (severe 24, mean age 11.2 years). Seven subjects had a history of inhibitors. Five children had an upper extremity target-joint and 12 had at least one lower extremity target-joint. The following parameters were measured: trabecular, total and cortical bone density and content (TBD, ToBD, CBD, TbC, CC), strength-stress index (SSI), and tibial cross-sectional area (CA), outer and inner bone contour length (PERI, ENDO) and cortical thickness (CTHC). RESULTS: Mean right radius TBD was significantly higher than the left one (P = 0.015). In subjects with arm target-joint, radius TBD was significantly lower in the target than in non-target arm (186.6 ± 60.4 vs 218.6 ± 39.8, P = 0.032). Left arm target-joint subjects had significantly lower left radius TBD in comparison to subjects without arm target-joint (155.4 ± 50.3 vs 215.7 ± 37.9, P = 0.019). There were no similar differences in leg target-joint. Bone quality and geometry parameters in cortical compartment were significantly lesser in inhibitor group, with statistically significant side-to-side differences for legs and arms and left side predominance. CONCLUSION: In children with haemophilia A and a history of target-joint and/or FVIII inhibitor, abnormalities may occur in the long bones as were revealed by pQCT, where low trabecular density and weak cortical bone quality in upper and lower extremities, respectively, were confirmed.

Primary Myxoid Liposarcoma of the Upper Thoracic Spine in an Elderly Patient.

Liposarcoma, one of the most common soft-tissue sarcomas, originates from primitive mesenchymal cells, and its diagnostic criteria have been well established. Myxoid liposarcoma is the second most common histological subtype, occurring more frequently during the fourth and fifth decades of life. There are only a few sporadic published cases of spinal liposarcomas, whatever primary or metastatic. We describe an unusual case of primary myxoid liposarcoma of the thoracic spine in a 79-year-old male, presented with a 2-month history of intractable dorsal pain and progressive weakness of lower limbs. Surgical treatment was performed with wide tumor resection, spinal cord decompression, and posterior instrumentation complemented by radiotherapy. Only one other case has been reported with this spinal localization in the literature. Despite its rarity, myxoid liposarcoma should be considered in the differential diagnosis of primary tumors of the thoracic spine.

Secondary aneurysmal bone cyst in McCune-Albright syndrome.

Polyostotic fibrous dysplasia in combination with caféau-lait macules and hyperfunctioning endocrinopathies consists of a rare clinical condition termed as McCune-Albright syndrome. Aneurysmal bone cysts are tumor-like cystic lesions, composed of blood-filled compartments. They may occur as primary lesions or secondary to other pathologies; most commonly giant cell tumors of bone. However, secondary aneurysmal bone cysts in McCune-Albright syndrome are exceptional. We present a 28-year-old female with McCune-Albright syndrome. She experienced precocious puberty at age 3 months. In childhood, she experienced multiple long bone fractures, facial deformity and progressive visual and hearing impairment. One year ago, she experienced a painful, gradually enlarging bone lesion involving the right ilium, pubic and ischial bone with groundglass appearance, septa, marginal sclerosis, endosteal scalloping and blow-out expansion resulting in localized thinning of the cortex. CT-guided needle biopsy of the pelvic lesion showed aneurysmal bone cyst. Selective arterial embolization was recommended, however, the patient and her relatives did not consent to proceed to treatment, and she remained in close surveillance thereafter.

John C. Carapanayiotis (1909-1999): the Greek radiologist and pioneer of physiatry in Greece

John C. Carapanayiotis was specialized in physical medicine and rehabilitation in the USA in 1948, at a time when the medical world in post-war Greece was ignorant of this specific medical specialty, and the political, economic and social backdrop was incapable of accepting and understanding the wealth of scientific knowledge that he was trying to introduce. At this point it should be noted that the specialty of Physical Medicine and Rehabilitation was established in Greece in 1973. John C. Carapanayiotis was a member of the American Congress of Physical Medicine during the 1950's. In the same period, he expressed interest, on behalf of the New York University, in the establishment of a Physical Therapy Clinic in Greece, which would be granted unlimited funding by the Marshal Plan. His efforts clashed constantly with the backward mentality of his time, with the entrenched conservatism and with the bureaucratic red tape. Unfortunately, he was far ahead of his time and was condemned to the same fate as all other visionaries and pioneers in the way that his knowledge and scientific background were not put into practice for decades to come.

Medical care in free-beseiged Missolonghi (1822-1826). Johann Jacob Meyer and the first military hospital.

During the siege of Missolonghi by the Ottomans the conditions of hygiene living, clothing and feeding of the vast majority of enslaved Greeks could be assessed as deprived and miserable. The humid climate and geophysical environment favored the outbreak of epidemics that further darkened an already unfavorable situation of the fighters and their families. Necessarily, the priority was to meet the military and economic needs and secondarily tackling public health issues, health care and medicine - social welfare. The inadequate infrastructure of nursing care, the limited number of health personnel and serious shortages into pharmaceutical material revealed the resolution of those doctors who provided their services during the siege. Johann Jacob Meyer, a famous Swiss philhellene, a man known as the first journalist in Greece, along with his Greek wife, contributed to the founding and organization of the first military hospital and to the improvement of the general health care during the siege of Missolonghi (1822-1826).

Vertebral fracture assessment: Current research status and application in patients with kyphoplasty.

Imaging of the spine is of paramount importance for the recognition of osteoporotic vertebral fractures (VFs), and standard radiography (SR) of the spine is the suggested diagnostic method but is not routinely used because of the cost and radiation exposure considerations. VF assessment (VFA) is an efficient, low radiation method for identifying VFs at the time of bone mineral density (BMD) measurement. Prediction models used to indicate the need for VFA may have little predictive power in subspecialty referral populations such as rheumatologic patients or patients who underwent kyphoplasty. Rheumatologic patients are frequently at increased risk for VFs, and VFA should be performed on an individual basis, also taking in account the guidelines for the general population. Kyphoplasty is a new minimal invasive procedure for the treatment of VFs and is being performed with increasing frequency. Following kyphoplasty, there may be a risk of new VFs in adjacent vertebrae. The assessment and follow-up of patients who underwent kyphoplasty requires repetitive X-ray imaging with the known limitations of SR. Thus, VFA may facilitate the evaluation of VFs in these patients because most of the kyphoplasty patients would fulfill the criteria. In a pilot study, we measured the BMD and performed VFA in 28 patients treated with kyphoplasty. Ratios of anterior to posterior (A/P) and middle to posterior (M/P) height were measured, and Genant's method was used to classify vertebrae accordingly. Intraobserver and interobserver reliability for A/P, M/P and the Genant's method were determined. Only 1 patient did not meet the criteria for VFA. Of the 364 available vertebrae, 295 could be analyzed. Most missing data (concerning 69 vertebrae) occurred in the upper thoracic region. Three of the 69 non-eligible vertebrae were lumbar vertebrae with cement leakage from the kyphoplasty procedure. In our hands, VFA was highly reproducible, demonstrating very good agreement in terms of intraobserver and interobserver reliability. Agreement was very good on the vertebral level, "vertebrae with kyphoplasty" level and "2 above and 1 below the kyphoplasty vertebrae" level. The application of Genant's method to these patients also resulted in perfect agreement. We believe that the potential value of VFA in patients treated with kyphoplasty requires further evaluation, particularly comparing VFA with SR and performing a longitudinal follow-up. More research will help to adopt care processes that determine which patients require VFA and how often VFA should be performed, while also considering the impact of this technique on the cost of healthcare organizations.