Bone turnover profile and muscular status in major orthopaedic surgery: a case series.

BACKGROUND Sarcopenia refers to a chronic loss of skeletal muscle mass, often associated with hypovitaminosis D and advanced age, which involves a greater risk of falls and fractures. The association of sarcopenia and osteoporosis defines osteo-sarcopenia. In this work, the authors analyzed the osteometabolic profile and the loco-regional muscular state of patients undergoing major orthopedic surgery, in order to define the incidence of district osteosarcopenic states, linked to a condition of disuse.   METHODS   19 patients (10M-9F), between 15 and 85 years old, underwent major orthopedic surgery (15 resection prosthesis and custom made, 2 resection and reconstruction with transplant) were evaluated, of which 9 on an oncological basis. In all patients, the phospho-calcium metabolism was assessed by blood tests and intraoperative muscle biopsy was performed at the intervention site and contralaterally; in 3 cases a densitometric comparative study of the affected/contralateral limb was performed.   RESULTS   Results shows 5 patients with hypovitaminosis D; 7 pcs with hypocalcemia; 5 with PTH rise; 4pcs with ALP increase. In 100% of cases, the biopsy revealed sarcopenic patterns exclusively on the affected limb. 2 out of 3 DEXAs (66%) showed loco-regional osteoporosis compared to the contralateral.   CONCLUSIONS   The fact that in our sample sarcopenia is unilateral affecting only the pathological limb, that it is frequently associated with osteoporosis which is also unilateral and that for the most part it is not associated with vitamin D deficiency, suggests that it is an independent condition, with etiopathogenetic mechanisms different from osteosarcopenia itself. In major orthopedic surgery, bone integration and muscle status are both essential for achieving and lasting positive results. Considering the high incidence of district osteosarcopenia, an integrated surgical, pharmacological, and rehabilitative approach is desirable for the optimization of results, as well as more studies for the definition of the etiopathogenesis of this pathological condition.

A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report.

BACKGROUND: Mitochondrial tRNA (MTT) genes are hotspot for mitochondrial DNA mutation and are responsible of half mitochondrial disease. MTT mutations are associated with a broad spectrum of phenotype often with complex multisystem involvement and complex genotype-phenotype correlations. MT-TL1 mutations, among which the m.3243A>G mutation is the most frequent, are associated with myopathy, maternal inherited diabetes and deafness, MELAS, cardiomyopathy, and focal segmental glomerulosclerosis. CASE STUDY: Here we report the case of an Italian 49-years old female presenting with encephalomyopathy, chronic proteinuric kidney disease and a new heteroplasmic m.3274_3275delAC MT-TL1 gene mutation. CONCLUSIONS: Our case demonstrates a systemic mitochondrial disease caused by the heteroplasmic m.3274_3275delAC MT-TL1 gene mutation, not yet described in the literature. A mitochondrial disease should be suspected in case of complex multisystem phenotypes, including steroid-resistant nephrotic syndrome with multisystemic involvement.

A new technique of ultrasound guided percutaneous renal biopsy by perforated probe and perpendicular needle trajectory.

The percutaneous biopsy of native kidneys according to the classical methodology is performed under real time ultrasound guidance with the needle introduction along a trajectory of about 30°, aimed to the lower pole of the kidney. Recently, a variant of the classical technique has been introduced by which a perforated ultrasound probe is used to guide the needle along a perpendicular trajectory to the terminal section of the lower kidney pole where the front and back margins of the cortical kidney tissue join each other without renal sinus interposition so to offer to the needle a 3-4 cm thick cortical tissue front which allows to obtain a cortical tissue sample suitable for histological examination even with a single needle pass, while at the same time limiting the possibility of damaging the smaller kidney calices of the lower group whose lesion causes hematuria. In this paper, we present a large survey (50 patients) to compare to data from the literature obtained by using similar needle gauge and with a similar follow-up period after biopsy. The result of this comparison confirms the efficacy of this variant of the classical technique because in front of a statistically lower number of needle passes, it allowed to obtain 100% of samples suitable for histological analysis, in absence of major complications and with a statistically lower post-biopsy hemoglobin drop in comparison to that observed in a group of 44 patients biopsied with a greater number of needle passes, in the only study of the literature which is directly comparable to our study in relation to needle gauge and duration of monitoring.

[A variant of the classic technique of ultrasound guided percutaneous renal biopsy: the perpendicular entry by longitudinal viewing planes with a perforated probe].

The percutaneous biopsy of native kidneys according to the classic methodology, takes place with the introduction of the needle and its guide with ultrasound sagittal viewing planes, with a 30-degree angle, up to the lower pole of the kidney. Since the longitudinal axis of the kidneys converges towards the spine with a sharp angle, we observed that starting from a longitudinal scan of the kidney (conducted along the posterior axillary line with the patient prone) you can drive the needle by a perforated probe through a shorter path perpendicular to the end section of the lower pole of the kidney where the front and rear rims of the cortex bearings without the renal sinus interposed so increasing the chance to obtain, even with a single pass, a good sample of cortical tissue while limiting the possibility to damage the lower chalices that may cause hematuria. We biopsied in that manner 26 patients and we compared the data with those reported in the literature performed with the same needle gauge and post-biopsy monitoring period. With a statistically lower number of needle passes, it is thus obtained the 100% of the sample validity for histological analysis, in absence of major complications and statistically hemoglobin variance when compared with a group of 44 patients biopsied with a significantly greater number of needle passes in the only work carried out with classical technique in the literature (Ori et al.) which is directly comparable to our for gauge of the needles and duration of monitoring.