Amyloid myopathy presenting with distal atrophic weakness

Amyloid myopathy is a rare complication of primary amyloidosis usually presenting with proximal muscle weakness. We report a woman with multiple myeloma in whom marked atrophy and weakness of finger flexor muscles were the first manifestations of systemic amyloidosis. Muscle biopsy revealed amyloid angiopathy with deposits of lambda light chains in vessel walls. The recognition of amyloid myopathy is important because clinical symptoms may respond to chemotherapy.     

Possible benefits of calcitonin in the treatment of otosclerosis

This study shows the results obtained after treatment with intranasal calcitonin in 23 patients (36 ears) suffering from otosclerosis. 19.4% showed a hearing improvement upper of 10 dB. The gain was 32 dB in air conduction thresholds and 23 dB. In bone conduction. Tinnitus disappeared in 25% of cases suffering from tinnitus. Calcitonin tolerance was good, 8.7% of patients reported migraine. Authors recommended additional studies in order to evaluate the efficacy of this drug in the treatment of otosclerosis.     

Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene

We report the first nonsense mutation (G7896A) in the mtDNA gene for subunit II of cytochrome c oxidase (COX) in a patient with early-onset multisystem disease and COX deficiency in muscle. The mutation was heteroplasmic in muscle, blood, and fibroblasts from the patient and abundantly present in COX-deficient fibers, but less abundant in COX-positive fibers; it was not found in blood samples from the patient's asymptomatic maternal relatives. Immunoblot analysis showed a reduced concentration of both COX II and COX I polypeptides, suggesting impaired assembly of COX holoenzyme.     

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy

We studied a patient with ptosis, ophthalmoparesis, and exercise intolerance who showed in her muscle biopsy ragged-red fibers and combined defects of the complexes I and IV of the mitochondrial respiratory chain. Molecular analysis revealed a T3273C transition in the mitochondrial DNA tRNA(Leu(UUR)) gene. The mutation was heteroplasmic and very abundant in muscle from the proposita, less abundant in her other tissues studied, and still less abundant in blood from her maternal relatives. Single muscle fiber analysis showed significantly higher levels of mutant genomes in ragged-red fibers than in normal fibers. The T3273C mutation affects a strictly conserved base pair in the anticodon stem and was not found in controls, thus satisfying the accepted criteria for pathogenicity.     

Impact of digital dermoscopy analysis on the decision to follow up or to excise a pigmented skin lesion: a multicentre study

Background: The quality of early malignant melanoma (MM) diagnosis is dependent on the experience of dermatologists, tools like dermoscopy and histopathology, and awareness and education of the studied population. Does a higher rate of excision of pigmented skin lesions (PSL) increase the rate of detected melanomas? Material and Methods: The DB‐MIPS objective tool, able to evaluate mathematical defined variables, has been used to verify the variability of measurements among PSL stored by five different centres located in Italy, Switzerland, and Germany. Results: The objective analysis showed low differences in terms of moles' features among the different groups, arguing for robustness of the dermatological patient's PSL inspection. Differences in terms of false positives and predictive positive values have been detected. The tendency to follow up a lesion was proportional to the percentage of thin MM (<0.75 mm tumour thickness), while the interventism was proportional to the percentage of dysplastic moles. Similar percentage of thin melanoma has been observed in all the centres, indicating a standardization in early diagnosing among experienced dermatologists. The main difference among the centres was their mode of action, i.e. to follow up or remove suspicious PSL. Conclusion: Interventism depends neither on the geographic site nor on the features of the observed moles. Higher removal rates do not correspond to higher MM detections: this means that an in‐depth knowledge of melanoma patterns is required and follow‐up of suspicious moles is highly suggested.     

High-resolution three-dimensional micro-computed tomography detects bone loss and changes in trabecular architecture early: comparison with DEXA and bone histomorphometry in a rat model of disuse osteoporosis.

RATIONALE AND OBJECTIVES: The ability of three-dimensional micro-computed tomography (3D-microCT) to detect changes in a rat model of disuse osteoporosis was evaluated and compared with two reference techniques: dual x-ray absorptiometry (DEXA) for bone mass, and bone histomorphometry (BHM) for bone mass and trabecular micro-architecture. METHODS: Forty-two rats were divided into controls or were hindlimb unloaded for 7, 13, and 23 days. DEXA bone mineral density measurements were performed on right tibiae. Then, after plastic embedding, bone volume (BV/TV) and trabecular (Tb)-derived parameters of trabecular bone architecture (Tb Th, thickness; Tb N, number) were measured with BHM. 3D-microCT measurements of BV/TV, Tb Th, and Tb N were carried out on left tibiae. RESULTS: Unloaded rats lost bone in a time-dependent manner. DEXA and 3D-microCT detected bone loss earlier than BHM. The decreases in Tb Th and Tb N were observed at day 13 only with 3D-microCT (P < 0.05 and P < 0.01, respectively). All bone mass and architectural parameters measured with the three techniques correlated significantly (0.59, 0.89, P < 0.001), except Tb Th. CONCLUSIONS: 3D-microCT is a valid technique for bone mass and micro-architecture measurements in this rat model of disuse osteoporosis.     

Perineural dissemination in labial carcinoma

We present four cases of lip carcinomas which have been extended to the mandible in between of one to four years through the mental nerve with peripheric neuropathy which was multiple in one of the cases.     

Association between vaginal bulge and anatomical pelvic organ prolapse during pregnancy and postpartum: an observational study

Introduction and hypothesis

Pelvic organ prolapse (POP) is defined as the coexistence of anatomical POP and relevant symptoms. Vaginal bulge is the symptom most closely associated with the anatomical condition in nonpregnant women. Even if childbearing is a major risk factor for the development of POP, there is scant knowledge on the prevalence of specific POP symptoms, and how these symptoms relate to anatomical POP during pregnancy and postpartum. The aim of this study was to explore whether vaginal bulge symptoms were associated with anatomical POP in pregnancy and postpartum, and to present the prevalence of vaginal bulge symptoms throughout this period.

Methods

A prospective observational study was carried out following 300 nulliparous pregnant women with repeat assessments from mid-pregnancy until 1 year postpartum. Symptoms of vaginal bulge defined as the sensation of a vaginal bulge inside and/or outside the vagina were assessed by electronic questionnaires. Anatomical POP defined as pelvic organ prolapse quantification system (POP-Q) stage ≥2 has been presented in a previous publication and showed a range of 1–9%. The association between the symptom vaginal bulge and anatomical POP at the various visits was analyzed using Fisher’s exact test.

Results

Prevalence of vaginal bulge ranged between 16 and 23%. At 6 weeks postpartum the symptom was associated with anatomical POP; otherwise, these two features were unrelated.

Conclusions

The symptom vaginal bulge was barely associated with anatomical POP, and cannot identify anatomical POP in pregnancy or postpartum.

     

The effect of diabetes on B-type natriuretic peptide concentrations in patients with acute dyspnea: an analysis from the Breathing Not Properly Multinational Study

OBJECTIVE: Diabetes has been implicated in reduced myocardial compliance and changes in the intercellular matrix of the myocardium. We determined the effect of diabetes on B-type natriuretic peptide (BNP) concentrations in patients presenting to the emergency department with dyspnea. RESEARCH DESIGN AND METHODS: The Breathing Not Properly Multinational Study was a prospective evaluation of 1,586 patients. A subset of 922 patients was obtained and subdivided into the following groups: group 1 (n = 324), neither diabetes nor heart failure; group 2 (n = 107), diabetes and no heart failure; group 3 (n = 247), no diabetes and heart failure; group 4 (n = 183), both diabetes and heart failure; group 5 (n = 41), heart failure history with no diabetes; and group 6 (n = 20), heart failure history with diabetes. Patients from groups 1, 3, and 5 were matched to groups 2, 4, and 6, respectively, to have the same mean age, sex distribution, BMI, renal function, and New York Heart Association (NYHA) classification (for heart failure). RESULTS: There was no significant difference in median BNP levels between diabetes and no diabetes among no heart failure patients (32.4 vs.32.9 pg/ml), heart failure patients (587 vs. 494 pg/ml), and those with a heart failure history (180 vs. 120 pg/ml). Receiver-operating characteristic curve analysis of the area under the curve for BNP was not different in diabetic versus nondiabetic patients (0.888 vs. 0.878, respectively). However, in a multivariate model, diabetes was an independent predictor of a final diagnosis of heart failure (odds ratio 1.51, 95% CI 1.03-2.02; P < 0.05). CONCLUSIONS: History of diabetes does not impact BNP levels measured in patients with acute dyspnea in the emergency department. Despite the impact of diabetes on the cardiovascular system, diabetes does not appear to confound BNP levels in the emergency department diagnosis of heart failure.