Biparental/androgenetic mosaicism in a male with features of overgrowth and placental mesenchymal dysplasia.

Biparental/androgenetic mosaicism is a rarely diagnosed condition in humans. It is typically ascertained prenatally on the basis of placental mesenchymal dysplasia. Fetal outcome can range from demise due to intrauterine growth retardation to term delivery. Most of the published cases of liveborns represent females that are either completely normal or have features of Beckwith-Wiedemann syndrome. Only two healthy liveborn males with mosaicism detected in the placenta have been described to date. Here, we report another liveborn male with hepatic mesenchymal hamartoma, soft tissue overgrowth on his right fifth toe, hemangiomas over his chest, right buttock and foot, anemia, thrombocytopenia and congenital hypothyroidism with biparental/androgenetic mosaicism detected in the toe mass in addition to the placenta. This new case adds to the existing literature of individuals with biparental/androgenetic mosaicism and expands the range of clinical presentations that may be seen in male patients with this condition. This study also illustrates the important use of single-nucleotide polymorphism microarray in conjunction with short-tandem repeat analysis on affected tissue to provide a diagnosis for patients with features of overgrowth and prior, non-diagnostic, genetic analyses of their peripheral blood.

Predictors of change of trabecular bone score (TBS) in older men: results from the Osteoporotic Fractures in Men (MrOS) Study.

Among older men, characteristics that predict longitudinal changes in trabecular bone score (TBS) are different from characteristics that predict changes in bone mineral density (BMD). Most notably, weight loss is strongly associated with concomitant loss in BMD but with concomitant increases in TBS, when measured on Hologic densitometers. INTRODUCTION: Our objective was to compare and contrast predictors of changes in TBS, total hip BMD, and lumbar spine BMD. METHODS: Our study population was 3969 Osteoporotic Fractures in Men (MrOS) cohort participants (mean age 72.8 years) with repeat measures of TBS, lumbar spine and total hip BMD, body mass index (BMI) less than 37 kg/m2, and no use of bisphosphonate or glucocorticoid medications. TBS was scored (Med-Imaps Software version 2.1) and BMD measured on Hologic densitometers. RESULTS: One thousand four hundred forty-four men had a TBS decrease > 0.04 units (estimated least significant change for TBS), 795 men had a TBS increase > 0.04 units, and 1730 men had TBS change ≤ 0.04 units over mean follow-up of 4.6 years. Older age was not associated with TBS change, but was associated with greater decline in lumbar spine and total hip BMD. Compared to stable weight, > 10% weight loss was strongly associated with an increase in TBS [effect size = 1.24 (95% CI 1.12, 1.36)] and strongly associated with a decrease in total hip BMD [- 1.16 (95% CI - 1.19, - 1.03)]. Other predictors discordant for longitudinal changes of TBS and BMD included baseline BMI, walk speed, and ACE inhibitor use. CONCLUSIONS: Predictors of changes in TBS are different from predictors of changes in lumbar spine and total hip BMD. At least when assessed on Hologic densitometers, weight loss is associated with subsequent declines in spine and total hip BMD but subsequent increase in TBS. Faster walk speed may protect against loss of hip BMD, but is not associated with longitudinal changes of TBS.

Pre-fracture individual characteristics associated with high total health care costs after hip fracture.

Older women with pre-fracture slow walk speed, high body mass index, and/or a high level of multimorbidity have significantly higher health care costs after hip fracture compared to those without those characteristics. Studies to investigate if targeted health care interventions for these individuals can reduce hip fracture costs are warranted. INTRODUCTION: The aim of this study is to estimate the associations of individual pre-fracture characteristics with total health care costs after hip fracture, using Study of Osteoporotic Fractures (SOF) cohort data linked to Medicare claims. METHODS: Our study population was 738 women age 70 and older enrolled in Medicare Fee for Service (FFS) who experienced an incident hip fracture between January 1, 1992 and December 31, 2009. We assessed pre-fracture individual characteristics at SOF study visits and estimated costs of hospitalizations, skilled nursing facility and inpatient rehabilitation stays, home health care visits, and outpatient utilization from Medicare FFS claims. We used generalized linear models to estimate the associations of predictor variables with total health care costs (2010 US dollars) after hip fracture. RESULTS: Median total health care costs for 1 year after hip fracture were $35,536 (inter-quartile range $24,830 to $50,903). Multivariable-adjusted total health care costs for 1 year after hip fracture were 14 % higher ($5256, 95 % CI $156 to $10,356) in those with walk speed <0.6 m/s compared to ≥1.0 m/s, 25 % higher ($9601, 95 % CI $3314 to $16,069) in those with body mass index ≥30 kg/m2 compared to 20 to 24.9 mg/kg2, and 21 % higher ($7936, 95 % CI $346 to $15,526) for those with seven or more compared to no comorbid medical conditions. CONCLUSIONS: Pre-fracture poor mobility, obesity, and multiple comorbidities are associated with higher total health care costs after hip fracture in older women. Studies to investigate if targeted health care interventions for these individuals can reduce the costs of hip fractures are warranted.

Design of specific gratings operating under surface plasmon-polariton resonance.

We present a productive method of designing specific diffraction gratings that ensure some predetermined energy redistributions between outgoing waves. It is based on the analytical solution of the direct and reverse diffraction problems under surface plasmon-polariton resonance and is supported by strict numerical calculations.

Clinical and molecular evidence for association of SLE with parvovirus B19.

In addition to genetic and environmental factors, viruses have been suspected as causes and/or contributors to human autoimmune diseases, although direct evidence for the association is generally lacking. Parvovirus B19, the cause of Fifth disease in childhood, and possible trigger in the spectrum of autoimmune diseases in adults, has emerged as one of the central viral candidates within the last few years. In this article we propose a possible model for parvovirus B19 association with systemic lupus erythematosus (SLE). The basis for our model is the secretion of hydrolyzing anti-ssDNA autoantibodies in 30-70% of cases with SLE, which in turn can either hydrolyze viral B19 ssDNA in blood and other fluids, or intranuclear, replicated viral ssDNA after re-activation and translocation of the virus into the nucleus of the host permissive cells. Both mechanisms contribute to perpetuation and maintenance of a 'vicious cycle' with concomitant flares in SLE, and involve inevitable TLR9 sensitization and genetic switch for anti-ssDNA autoantibody production from activated B cells in individuals prone to triggering. This model strongly suggests a major potential impact upon early prevention (vaccination) and targeted therapy of this subclass within the SLE spectrum of diseases. Incorporated in this new concept is an innovative idea for developing the tool for more precise (individualized) diagnosis, prevention, and therapy.

[Morphometric characteristics of lumbar vertebrae of adult individuals and the feasibility of their body volume prediction in percutaneous vertebroplasty].

Using the material obtained from 96 human corpses (480 skeletal vertebra), the linear parameters of vertebra were studied. The research objective was to study morphometric characteristics of lumbar vertebra of an adult person taking into consideration the individual and sexual variability, and to estimate the feasibility of calculation of a vertebra body volume with reference to percutaneous vertebroplasty. The results of research have demonstrated the general patterns of modification of linear and volumetric parameters of L(I)-L(V) vertebra; it was shown that the values of linear parameters for the male samples were bigger than those for the female samples. The length of an axis of operational action, the linear and angular sizes of pedicles of vertebral arch were independent on gender factor, but, as a rule, gradually changed from L(I) to L(V). On the basis of comparison of the calculated and measured volumes of lumbar vertebra bodies, it is concluded that the mathematical model proposed by us has sufficiently high accuracy.

Effects of staining of RNA with ethidium bromide before electrophoresis on performance of northern blots.

Staining of RNA with ethidium bromide (EtdBr) prior to running agarose gels has been reported to afford certain advantages over staining gels after electrophoresis. We have examined prior staining of RNA with a wide range of EtdBr concentrations, particularly with respect to its effects on Northern blot hybridizations using antisense RNA probes. Prior staining with EtdBr at concentrations of 100-1000 micrograms/ml caused significant alterations in RNA mobilities and significantly decreased hybridization with antisense RNA probes compared with unstained RNA. Prior staining with EtdBr at 10-50 micrograms/ml resulted in the best combination of staining sensitivity, absence of alterations in RNA mobility and efficiency of hybridization. Conventional staining of gels after electrophoresis also resulted in decreased hybridization efficiency with RNA probes compared with unstained RNA.

Canonical description of ideal magnetohydrodynamic flows and integrals of motion.

In the framework of the variational principle the canonical variables describing magnetohydrodynamic (MHD) flows of general type (i.e., with spatially varying entropy and nonzero values of all topological invariants) are introduced. It is shown that the velocity representation of the Clebsch type following from the variational principle with constraints is equivalent to that resulting from the generalization of the Weber transformation performed in the paper for the case of arbitrary MHD flows. Using such complete velocity representation enables us not only to describe the general type flows in terms of single-valued functions, but also to solve the intriguing problem of the "missing" MHD integrals of motion. The set of hitherto known MHD local invariants and integrals of motion appears to be incomplete: for the vanishing magnetic field it does not reduce to the set of the conventional hydrodynamic invariants. And if the analogs of the vorticity and helicity were discussed earlier for the particular cases, the analog of Ertel invariant has been so far unknown. It is shown that all "missing" invariants are expressed in terms of the decomposition of the velocity representation into the "hydrodynamic" and "magnetic" parts. In spite of the nonunique character of such representation it is shown that there exists a natural restriction of the gauge transformations set allowing one to make the invariants gauge independent. It is found that on the basis of the new invariants introduced a wide set of high-order invariants can be constructed. The new invariants are relevant both for the deeper insight into the problem of the topological structure of the MHD flows as a whole and for the examination of the stability problems. The additional advantage of the proposed approach is that it enables one to deal with discontinuous flows, including all types of possible breaks.

[Cytological changes in the parotid gland in Sjögren's syndrome]. / Tsitologicheskie izmeneniia okoloushnoi sliunnoi zhelezy pri sindrome Shegrena.

A detailed description of the punctate and secretion of the parotid gland in Sjögren's syndrome is presented. In all the stages of the disease 11 out of 12 sick women were found to have lymphocytes of various degrees of maturity, reticular cells, neutrophils and microflora. With the development of pathological changes the cell elements of the secretory and ductal epithelium were less frequently found in the preparations. Occasionally, altered myoepithelial and epithelial cells were observed.

[Changes in the leukocyte capacity for rosette formation as affected by actinolysate in actinomycosis patients and healthy donors]. / Izmenenie sposobnsoti leikotsitov k rozetkoobrazovaniiu pod vliianiemaktinolizata u bol'nykh aktinomikozom i zdorovykh donorov.

The action of actinolysate on the capacity of lymphocytes and neutrophils for rosette-formation has been studied in patients with actinomycosis of the maxillofacial area and with chronic nonspecific inflammatory processes, as well as in healthy donors. Actinolysate has been found to have different influence on cell activity. In actinomycosis patients with the low capacity of cells for spontaneous E-rosette-formation with sheep red blood cells (SRBC) actinolysate suppresses their activity still greater, while in cases of the high capacity of cells for spontaneous epsilon-rosette-formation with SRBC this capacity is increased. In chronic nonspecific inflammatory processes in the maxillofacial area and in healthy donors the reverse tendency is observed.

[Small-scale laser unit and its use in dental surgery]. / Malogabaritnaia lazernaia ustanovka i ee primenenie v khirurgicheskoi stomatologii.

A design and main specifications of the laser set lTM-01 for the operative dentistry are presented. Some methods and manipulations are also described. Special attention is focused on a rather high therapeutic activity of He-Ne laser beams at the radiation density about 0,1-1 mW/cm2 when treating more than 3000 patients. In the course of the treatment no complications have been observed. The set does not require any special room or particular protection for personnel and patients. It is mounted on the dental chair and may be conveniently used by a physician during consultations.

[Role of cooperation of small enterprises in the production of rigid medical endoscopes]. / Rol' kooperatsii malykh predpriiatii v proizvodstve zhestkikh meditsinskikh éndoskopov.

The paper briefly describes the purposes and technical data of rigid endoscopes with grading optic elements designed and produced by 3 small enterprises which have common aims and methods of their fulfillment. It also gives brief characteristics of Russian gradanes used as objectives and translators of optic image. The experience of cooperation of small enterprises shows that not only a very large-scale optic enterprise, but an amalgamation of small enterprises may solve such a difficult problem as design and serial production of thin rigid endoscopes due to cooperation of all those having a required scientific-and-technical potential.

[Low-energy laser radiation in the combined treatment of salivary gland inflammation]. / Nizkoénergeticheskoe lazernoe izluchenie v kompleksnom lechenii vospaleniia sliunnykh zhelez.

Basing on analysis of clinical cases, the authors make suggestions on clinical and laboratory examinations and comprehensive pathogenetic therapy of patients with acute and chronic nonspecific inflammation of the salivary glands making use of low-energy He-Ne laser. Good results were attained in 95% of patients. The most marked effect of comprehensive treatment was observed when 5 min laser exposure at irradiation power of 0.8 to 1.3 mWt/cm2 was used.

[Megastenon: its clinical manifestations and treatment with intra- and extraductal laser therapy]. / Megastenon: klinicheskie proiavleniia i lechenie s primeneniem vnutri- i vneprotokovoi lazernoi terapii.

The authors present the data on examinations and follow-up as well as result of combined treatment of 13 patients with abnormally enlarged greater salivary ducts. Clinical manifestations of this rare disease are considered. He-Ne laser therapy in low-energy mode resulted in improvement in 12 patients with complete morphological recovery of the salivary glands in 3 of them.

[The clinical and diagnostic characteristics of Sjögren's syndrome (disease) and of nonspecific chronic sialoadenitis]. / Nekotorye osobennosti kliniki i diagnostiki sindroma (bolezni) Shegrena i nespetsificheskkogo khronicheskogo sialoadenita.

Analysis of clinical and laboratory parameters of nonspecific chronic sialadenitis, among which essential symptoms of Sjögren's syndrome (disease) have been distinguished, has lead the author to a conclusion that Sjögren's syndrome and disease develop as a symptom complex in the presence of all chronic sialadenitis forms, i.e., parenchymatous, interstitial, and sialodochitis.

[The regional blood circulation in the parotid gland area in Sjögren's disease (syndrome)]. / Regionarnoe krovoobrashchenie v oblasti okoloushnykh zhelez pri bolezni (sindrome) Shegrena.

Rheographic investigations of the parotid gland area in 103 patients with Sjogren's disease (syndrome) that developed in the presence of chronic nonspecific sialadenitis during its various stages and inflammation phases have demonstrated that the blood stream volumic rate directly depended on the inflammation phase and intensity of this phase. During remission the circulation in the salivary glands was close to normal.

[The effect of functional tests and of a low-energy helium-neon laser on the local blood circulation in the area of the parotid glands]. / Vliianie funktsional'nykh prob i nizkoénergeticheskogo gelii-neonovogo lazera na mestnoe krovoobrashchenie v oblasti okoloushnykh zhelez.

Effects of ascorbic acid, pilocarpin, nikoshpan, and low-energy He-Ne laser on blood stream volumic rate were studied. Use of laser exposure as a functional test in examination of the salivary glands is substantiated. The studies were carried out in a group of 97 patients with chronic nonspecific sialadenitis.

[The morphological pathology of the "double lip" (a clinical case)]. / K morfologicheskoi patologii "dvoinoi guby" (klinicheskoe nabliudenie).

Morphological changes of tissues in patients with macrocheilia or so-called "double lip" are described. These changes refer this abnormality to teratomas. Surgical treatment of the condition is discuss.

[The clinical and cytological characteristics of the oral mucosa in Sjögren's disease and chronic parotitis]. / Klinicheskaia i tsitologicheskaia kharakteristika slizistoi obolochki polosti rta pri bolezni Shegrena i khronicheskom parotite.

Clinical stomatologic and cytologic studies were carried out in 31 patients with Sjogren's disease, 12 ones with chronic parotitis, and 5 normal subjects. Patients with Sjogren's disease, in contrast to those with chronic parotitis, develop clinically manifest signs of dry exfoliative cheilitis, xerostomia, atrophic changes in the buccal mucosa; this condition is associated with a very high caries intensity and no clinical manifestations of periodontitis or tartar. Elevated leukocyte levels in oral washings and oral fluid of patients with Sjogren's disease and chronic parotitis point to inflammations in the salivary glands, buccal mucosa, and periodontal tissues. Assessment of the leukocyte levels may be used for monitoring the disease course and treatment efficacy. A 3-5-fold enlargement of the deep-layer epitheliocytes, seen on the cytogram of oral washings, is characteristic of patients with Sjogren's disease, in contrast to those with chronic parotitis or normal subjects. A differentiated estimation of the epitheliocyte types in the cytogram of oral washings may be used in the diagnosis of Sjogren's disease along with the criteria suggested before.

[Laser therapy of mandibular fractures]. / Lazernaia terapiia pri perelome nizhnei cheliusti.

Results of a comparative analysis of treatment of 46 patients with mandible fractures show the laser radiation (1 mv/cm2) to enhance the activity of serum alkaline phosphatase, to accelerate fixation of the mandible fracture, to shorten the period of disability of the patients, to prevent inflammatory complications.