Multiple fractures and impaired bone metabolism in Wolfram syndrome: a case report.
Authors: Catalano A, Bellone F, Cicala G, Giandalia A, Morabito N, Cucinotta D, Russo GT Abstract Wolfram Syndrome (WS) is a rare and lethal disease characterized by optic atrophy, diabetes mellitus, diabetes insipidus, and hearing loss. To date, osteoporotic related fractures have not been reported in affected patients. Here, we describe the case of a man affected by WS complicated by several bone fragility fractures. A 50-year-old Caucasian man was hospitalized because of tibia and fibula fractures. His clinical features included diabetes mellitus, diabetes insipidus, optic atrophy and deafness that were...
Source: Clinical Cases in Mineral and Bone Metabolism - December 22, 2017 Category: Orthopaedics Tags: Clin Cases Miner Bone Metab Source Type: research

Spondylocarpotarsal synostosis syndrome. A rare case of short stature and congenital scoliosis.
We report a case of young child who presented with short stature and congenital scoliosis. The radiological and clinical findings were compatible with the above diagnosis. Apart from the classical findings, the patient had evidence of odontoid aplasia which has not earlier been described in association with this disorder. We report this case for rarity of this disorder and the associated novel finding. PMID: 29263747 [PubMed] (Source: Clinical Cases in Mineral and Bone Metabolism)
Source: Clinical Cases in Mineral and Bone Metabolism - December 22, 2017 Category: Orthopaedics Tags: Clin Cases Miner Bone Metab Source Type: research

Hydatid cyst in the vastus lateralis muscle: a case report.
We report a rare case of an hydatid cyst located in the vastus lateralis muscle of a 41-year-old man. Muscular echinococcosis is an extremely rare disease. A MRI evaluation should be taken into account as gold standard in the diagnosis. Surgical cystectomy is often indicated, and an excision with wide margins is mandatory to avoid the rupture of the cyst and anaphylaxis. Adjuvant pharmacological therapy is recommended to minimize the risk of recurrence. PMID: 29263748 [PubMed] (Source: Clinical Cases in Mineral and Bone Metabolism)
Source: Clinical Cases in Mineral and Bone Metabolism - December 22, 2017 Category: Orthopaedics Tags: Clin Cases Miner Bone Metab Source Type: research

Giant schwannoma of the foot: a case report and literature review.
We report a case of a giant schwannoma of the foot diagnosed in a 65-year-old woman. A giant schwannoma of the foot is an extremely rare soft tissue tumor. MRI may allow an earlier diagnosis and provide valuable information about the size and possible bone invasion. This case report noted that a complete excision of the schwannoma may prevent the risk of local recurrence, regardless of its size. PMID: 29263749 [PubMed] (Source: Clinical Cases in Mineral and Bone Metabolism)
Source: Clinical Cases in Mineral and Bone Metabolism - December 22, 2017 Category: Orthopaedics Tags: Clin Cases Miner Bone Metab Source Type: research

Periostin and sclerostin levels in juvenile Paget's disease.
In conclusion, a trend towards higher periostin levels was observed in JPD patients, whereas sclerostin levels were similar to controls. PMID: 29263750 [PubMed] (Source: Clinical Cases in Mineral and Bone Metabolism)
Source: Clinical Cases in Mineral and Bone Metabolism - December 22, 2017 Category: Orthopaedics Tags: Clin Cases Miner Bone Metab Source Type: research

From the Editor-in-Chief.
Authors: Brandi ML PMID: 28740518 [PubMed] (Source: Clinical Cases in Mineral and Bone Metabolism)
Source: Clinical Cases in Mineral and Bone Metabolism - July 27, 2017 Category: Orthopaedics Tags: Clin Cases Miner Bone Metab Source Type: research

Low-dose diclofenac in patients with fragility fractures.
The objective of the study is to evaluate the improvement of back pain in the study population treated with low-dose diclofenac and regularly monitored for 2-6 months. Visual Analogic Scale (VAS) and Numerical Rating Scale (NRS) will be used for pain monitoring. The reduction of the risk of occurrence of drug side effects can favour the optimization of elderly patients' care. PMID: 28740519 [PubMed] (Source: Clinical Cases in Mineral and Bone Metabolism)
Source: Clinical Cases in Mineral and Bone Metabolism - July 27, 2017 Category: Orthopaedics Tags: Clin Cases Miner Bone Metab Source Type: research

Vitamin D levels and their impact on mineral metabolism in HIV infected patients: an exploratory study.
CONCLUSION: Sub-optimal vitamin D levels are frequently observed in HIV/AIDS patients on antiretroviral therapy (ART). Systematic assessment of mineral metabolism is considered necessary in HIV/AIDS positive patients. PMID: 28740520 [PubMed] (Source: Clinical Cases in Mineral and Bone Metabolism)
Source: Clinical Cases in Mineral and Bone Metabolism - July 27, 2017 Category: Orthopaedics Tags: Clin Cases Miner Bone Metab Source Type: research

New quantitative ultrasound techniques for bone analysis at the distal radius in hip fracture cases: differences between femoral neck and trochanteric fractures.
CONCLUSIONS: The new QUS parameters indicated that TR fracture cases were more osteoporotic than were FN fracture cases, even at the distal radius. There might be systemic differences between them, in addition to localized factors at the proximal femur. PMID: 28740521 [PubMed] (Source: Clinical Cases in Mineral and Bone Metabolism)
Source: Clinical Cases in Mineral and Bone Metabolism - July 27, 2017 Category: Orthopaedics Tags: Clin Cases Miner Bone Metab Source Type: research

Use of teriparatide off-label: our experience and review of literature.
Authors: Ciurlia E, Leali PT, Doria C Abstract The aim of this paper is to report our experience and to present a review of literature about the use of teriparatide off-label in the therapy of non-unions. Teriparatide is used exclusively in treatment of osteoporosis and to prevent bone fracture because it has a positive effect on bone strength and architecture. The use of teriparatide in non-unions is described as effective in numerous case report. PMID: 28740522 [PubMed] (Source: Clinical Cases in Mineral and Bone Metabolism)
Source: Clinical Cases in Mineral and Bone Metabolism - July 27, 2017 Category: Orthopaedics Tags: Clin Cases Miner Bone Metab Source Type: research

The effects of zoledronic acid on ECG: a prospective study on patients with bone metastatic cancer.
CONCLUSION: There were no significant alterations in ECG in the acute period, indicated that ZA had no arrhythmia potential in the early period in patients with no underlying cardiac disease. However: patients receiving ZA should be monitored more closely because of the risk of arrhythmia which may ensue due to hypocalcemia, hypomagnesemia, or other chemotherapeutics. PMID: 28740523 [PubMed] (Source: Clinical Cases in Mineral and Bone Metabolism)
Source: Clinical Cases in Mineral and Bone Metabolism - July 27, 2017 Category: Orthopaedics Tags: Clin Cases Miner Bone Metab Source Type: research

A comparison of two fixation methods for femoral trochanteric fractures: a new generation intramedullary system vs sliding hip screw.
CONCLUSIONS: PFNa may be considered an useful choice for the treatment of stable or rather stable trochanteric fractures as well as DHS. The light superiority of PFNa may be principally related to its mechanical advantages. PMID: 28740524 [PubMed] (Source: Clinical Cases in Mineral and Bone Metabolism)
Source: Clinical Cases in Mineral and Bone Metabolism - July 27, 2017 Category: Orthopaedics Tags: Clin Cases Miner Bone Metab Source Type: research

The use of cholecalciferol in patients with hip fracture.
CONCLUSIONS: The correction of vitamin D inadequacy is preliminary to any treatment for osteoporosis and together with calcium may reduce fracture risk by itself. The prescription of vitamin D supplements is low in patients before and after a hip fracture in a Mediterranean region and despite the overall increase in vitamin use and abuse in the general population. Proper educational programs and active fracture liaison services are needed in order to bridge this gap. PMID: 28740525 [PubMed] (Source: Clinical Cases in Mineral and Bone Metabolism)
Source: Clinical Cases in Mineral and Bone Metabolism - July 27, 2017 Category: Orthopaedics Tags: Clin Cases Miner Bone Metab Source Type: research

Evaluation of bone microstructure in CRPS-affected upper limbs by HR-pQCT.
DISCUSSION: CRPS associated with significant alterations in the bone microstructure of the affected upper limb that may amplify as the duration of disease increases. PMID: 28740526 [PubMed] (Source: Clinical Cases in Mineral and Bone Metabolism)
Source: Clinical Cases in Mineral and Bone Metabolism - July 27, 2017 Category: Orthopaedics Tags: Clin Cases Miner Bone Metab Source Type: research

Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update.
Authors: Marini F, Cianferotti L, Giusti F, Brandi ML Abstract Primary hyperparathyroidism (PHPT) is one of the most frequent endocrine disease in developed countries. It mainly occurs as sporadic cases (about 90-95% of cases), while only the remaining 5-10% is represented by familial inherited parathyroid disorders due to causative mutations in specific target genes. Clinical variability among the different familial parathyroid syndromes is generally linked to the specific mutated gene and it can predispose subjects to different manifestations of parathyroid pathology, various degrees of PHPT severity, pe...
Source: Clinical Cases in Mineral and Bone Metabolism - July 27, 2017 Category: Orthopaedics Tags: Clin Cases Miner Bone Metab Source Type: research