Clinical Cases in Mineral and Bone Metabolism最新文献

Juvenile Paget's disease (JPD) is a rare, autosomal recessive disorder featuring markedly increased serum alkaline phosphatase activity, indicative of greatly accelerated bone turnover throughout the skeleton. The main aim of this study was to evaluate circulating periostin and sclerostin levels in two adult patients with mild JPD (due to "Balkan" mutation). We measured periostin and sclerostin levels in a previously described woman and a newly diagnosed man with JPD, and 10 apparently healthy individuals, matched (1:5) to JPD patients for gender, age and body mass index. Sclerostin levels were similar between JPD patients and controls. Periostin levels were about 2.5 times higher in JPD patients. Periostin and sclerostin levels were negatively correlated (rs= -0.63; p=0.03). In conclusion, a trend towards higher periostin levels was observed in JPD patients, whereas sclerostin levels were similar to controls.

A 55-year-old man was hospitalized for a low back pain lasting for 3 months. Spinal MRI revealed a suggestive aspect of multilevel discitis L5-S1-S2 with paravertebral abscess. A thoraco-abdominal CT scan confirmed the presence of multiple pathological lymph nodes in several locations, bilateral micronodular pulmonary infiltrate; it also showed mirror bone erosions of vertebral L5 and S1 endplates, suggestive of disseminated tuberculosis with lung involvement and lymphadenopathy. A discovertebral L5-S1 biopsy was performed confirming the diagnosis of metastatic prostatic adenocarcinoma including a tumor infiltration of the intervertebral disc, without arguments for a septic processus superimposed without tuberculosis granuloma. Although rare, cases of metastases located at the disco-vertebral junction including prostatic cancer have already been described, and should be known to the clinician. The differential diagnosis with an infectious spondylodiscitis can be difficult in some case around the vertebral disc and in case of epiduritis and soft tissues involvement on MRI sequences. Disco-vertebral biopsy remains the cornerstone of the diagnosis.

Primary Hyperparathyroidism is asymptomatic in most patients (PHPT). We report a case of PHPT in a young male patient. He presented with severe pancreatitis due to hypercalcemia and multiple bone lesions resulting in pathological fractures. The patients recovered rapidly after parathyroidectomy.

Spondylocarpotarsal synostosis is a very rare skeletal disorder characterized by vertebral malsegmentation defects. Apart from severe vertebral defects, the disease is associated with carpal and tarsal synostosis which is quite characteristic for the disease. 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.

We report a case of a 54-year-old HIV-negative female who presented with a 2-month history of ongoing post meridiem low-level fever and new onset progressive paralysis. On MRI (magnetic resonance imaging), an infiltrative enhancing lesion was noted, which initially resembled that of MS, but she reacted not sensitively with immunosuppressive therapy, we performed a brain biopsy to her, it turned out to be primary CNS (central nervous system) diffuse large B-cell lymphoma (DLBCL). And the morphology, the flow cytometric findings were consistent with germinal center B-like diffuse large B-cell lymphoma. There were only a few case reports concerning primary CNS DLBCL of GCB. The misdiagnose of this patient should alarm the bell, and we should consider biopsy when the lesion is near the cortex in the brain. Why she reacted not sensitively with immunosuppressive therapy later is analyzed.

Vitamin K is mainly known as an agent involved in blood coagulation, maintaining the activity of coagulation factors in the liver. In addition, epidemiological studies suggested that a lack of vitamin K is associated with several diseases, including osteoporosis and vascular calcification. There are two main kinds of vitamin K: Phylloquinone (or PK) and Menaquinones (MKn), both act as co-enzyme of y-glutamyl carboxylase (GGCX) transforming under-carboxylated in carboxylated vitamin K dependent proteins, such as Bone Gla Protein (or Osteocalcin) and Matrix Gla Protein. Recently, Vitamin K was also identified as a ligand of the nuclear steroid and xenobiotic receptor (SXR) (in murine species Pregnane X Receptor: PXR), expressed in osteoblasts. The purpose of this literature review is to evaluate the protective role of Vitamin K in bone and vascular health.

Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumoral syndrome, featured by a combination of neoplasms of various endocrine and nonendocrine tissues. Approximately 33% of MEN1-related deaths are due to the malignant behaviour of well-differentiated neuroendocrine tumors (NETs), for which a preventive surgical treatment is not feasible. Somatostatin analogues (SSA) have been employed in the treatment of NETs in the stage of advanced or metastatic disease, in order to control the growth and secretion of tumor lesions. A longitudinal, open label study named "LARO-MEN1" was undertaken in order to assess whether early medical treatment with long-acting SSA could act as a preventive approach in small MEN1-related gastroenteropancreatic (GEP) NETs. Thirty consecutive patients affected by MEN1 were screened and 8 patients with small (<2 cm) NETs and abnormal laboratory values of at least one of the GEP hormones were administered octreotide acetate slow-release formulation (LAR) (10 mg i.m. every 28 days). Octreotide LAR was effective in decreasing GEP hormones and overall safe in the majority of patients up to six years of treatment, maintaining the disease stable also in terms of tumor size. The positive outcomes of this study in MEN1 patients reinforce the results obtained in advanced NETs on the use of SSA, opening to the opportunity for preventive use of octreotide LAR, aimed to delay or even avoid surgery in these patients.

Adipose-derived stem/stromal cells (ASCs), together with adipocytes, vascular endothelial cells, and vascular smooth muscle cells, are contained in fat tissue. ASCs, like the human bone marrow stromal/stem cells (BMSCs), can differentiate into several lineages (adipose cells, fibroblast, chondrocytes, osteoblasts, neuronal cells, endothelial cells, myocytes, and cardiomyocytes). They have also been shown to be immunoprivileged, and genetically stable in long-term cultures. Nevertheless, unlike the BMSCs, ASCs can be easily harvested in large amounts with minimal invasive procedures. The combination of these properties suggests that these cells may be a useful tool in tissue engineering and regenerative medicine.

Our study demonstrated percutaneous vertebroplasty (PVP) is an effective procedure to rapidly reduce back pain in patients affected by acute osteoporotic vertebral compression fractures (OVCFs) assessed by MRI. We confirmed in our sample, femoral bone density impacts more deeply than vertebral T-score and/or BMD on bone strenght, as it is less affected by any interferences. We interestingly found the presence of previous osteoporotic fragility fractures and chronic glucocorticoids therapy should especially negatively influence bone health of our patients. On the other hand, even if both FRAX scores for major osteoporotic fractures and for femoral fractures seemed to globally define a population at major risk for fragility fractures, our analysis is retrospectively done. We choose and suggest a multidisciplinary medical management of these patients, considering OP is a multifactorial disease and OVCFs usually produce lots of different important consequences on general health.

Several therapeutic options have been used in the past for treatment of patients with hip osteoarthritis (HO). In recent years we have witnessed to the introduction of the intra-articular injection (IA) of hyaluronic acid (HA) in clinical practice. This technique was initially used to treat knee arthritis, for which was actually introduced, but hip anatomy itself (deeper joint structure) and technical features (different methods) pose more challenges. However, results look promising in terms of symptoms improvement and delaying prosthetic surgery. Indeed, it does appear mandatory to increase pool of available data with further studies in order to refine techniques, make them more effective, and target patients who could potentially benefit more than others from treatment.