Low lean mass is associated with lower urinary tract symptoms in US men from the 2005-2006 national health and nutrition examination survey dataset.

We investigated the relationship between low lean mass (LLM) and lower urinary tract symptoms (LUTS) using the 2005-2006 National Health and Nutrition Examination Survey (NHANES) dataset. We enrolled 959 men with an average age of 52.08 ± 7.91 years and performed weighted multiple regression analysis to determine the independent relationship between exposure variables (LLM, alternate LLM) and outcomes variables (urinary hesitancy, incomplete emptying, urinary frequency, nocturia, daytime LUTS, clinical LUTS) after adjusting for confounding factors. The prevalence of urinary hesitancy (OR = 7.76, P < 0.0001), incomplete emptying (OR = 2.49, P = 0.0070), urinary frequency (OR = 3.28, P < 0.0001), daytime LUTS (OR = 3.88, P < 0.0001) and clinical LUTS (OR = 8.11, P < 0.0001) was significantly higher among men with LLM compared to men without LLM. Moreover, alternate LLM (ALLM) was positively associated with urinary hesitancy (OR = 17.97, P < 0.0001), incomplete emptying (OR = 4.68, P = 0.0003), daytime LUTS (OR = 2.47, P = 0.0136) and clinical LUTS (OR = 12.18, P < 0.0001). These findings demonstrate that both LLM and ALLM were associated with a higher risk of LUTS in men aged ≥ 40 years, which suggested that early management and treatment of lean mass loss may improve or alleviate LUTS.

The Effectiveness of Vacuum-Assisted Closure Device in Managing Intramuscular Tuberculosis.

ABSTRACT: Tuberculosis (TB) is endemic to some geographic areas such as Africa, Eastern Europe, Asia, Latin America, and the Caribbean. It is called the great mimicker because of its diverse and variable presentation and affects almost every organ in the body with different symptomatology. Often, TB causes empyema necessitans, the rarest forms of which are intramuscular and cutaneous. Here, the authors report a case of empyema necessitans and intramuscular TB, which was managed successfully with negative-pressure wound therapy. The treatment provided a good outcome and patient satisfaction compared with traditional invasive surgical options.

Muscle fat content is strongly associated with NASH: A longitudinal study in patients with morbid obesity.

BACKGROUND & AIMS: Studies exploring the relationship between muscle fat content and non-alcoholic fatty liver disease (NAFLD) are scarce. Herein, we aimed to evaluate the association of muscle mass and fatty infiltration with biopsy-assessed NAFLD in patients with obesity. METHODS: At inclusion (n = 184) and 12 months after a dietary intervention (n = 15) or bariatric surgery (n = 24), we evaluated NAFLD by liver biopsy, and skeletal muscle mass index (SMI) by CT (CT-SMI) or bioelectrical impedance analysis (BIA-SMI). We developed an index to evaluate absolute fat content in muscle (skeletal muscle fat index [SMFI]) from CT-based psoas muscle density (SMFIPsoas). RESULTS: Muscle mass was higher in patients with NAFLD than in those without (CT-SMI 56.8 ± 9.9 vs. 47.4 ± 6.5 cm2/m2, p <0.0001). There was no association between sarcopenia and non-alcoholic steatohepatitis (NASH). SMFIPsoas was higher in NASH ≥F2 and early NASH F0-1 than in NAFL (78.5 ± 23.6 and 73.1 ± 15.6 vs. 61.2 ± 12.6, p <0.001). A 1-point change in the score for any of the individual cardinal NASH features (i.e. steatosis, inflammation or ballooning) was associated with an increase in SMFIPsoas (all p <0.05). The association between SMFIPsoas and NASH was highly significant even after adjustment for multiple confounders (all p <0.025). After intervention (n = 39), NASH improvement, defined by NAFLD activity score <3 or a 2-point score reduction, was achieved in more than 75% of patients (n = 25 or n = 27, respectively) that had pre-established NASH at inclusion (n = 32) and was associated with a significant decrease in SMFIPsoas (p <0.001). Strikingly, all patients who had ≥11% reduction in SMFIPsoas achieved NASH improvement (14/14, p <0.05). CONCLUSIONS: Muscle fat content, but not muscle mass, is strongly and independently associated with NASH. All individuals who achieved a ≥11% decrease in SMFIPsoas after intervention improved their NASH. These data indicate that muscle fatty infiltration could be a potential marker for (and perhaps a pathophysiological contributor to) NASH. LAY SUMMARY: The fat content in skeletal muscles is highly reflective of the severity of non-alcoholic fatty liver disease (NAFLD) in patients with morbid obesity. In particular, muscle fat content is strongly associated with non-alcoholic steatohepatitis (NASH) and decreases upon NASH improvement. These data indicate that muscle fatty infiltration could be a marker and possible pathophysiological contributor to NASH.

The absence of piriformis muscle, combined muscular fusion, and neurovascular variation in the gluteal region

The gluteal region contains important neurovascular and muscular structures with diverse clinical and surgical implications. This paper aims to describe and discuss the clinical importance of a unique variation involving not only the piriformis, gluteus medius, gluteus minimus, obturator internus, and superior gemellus muscles, but also the superior gluteal neurovascular bundle, and sciatic nerve. A routine dissection of a right hemipelvis and its gluteal region of a male cadaver fixed in 10% formalin was performed. During dissection, it was observed a rare presentation of the absence of the piriformis muscle, associated with a tendon fusion between gluteus and obturator internus, and a fusion between gluteus minimus and superior gemellus muscles, along with an unusual topography with the sciatic nerve, which passed through these group of fused muscles. This rare variation stands out with clinical manifestations that are not fully established. Knowing this anatomy is essential to avoid surgical iatrogeny.

Deficiency and overexpression of Rtl1 in the mouse cause distinct muscle abnormalities related to Temple and Kagami-Ogata syndromes.

Temple and Kagami-Ogata syndromes are genomic imprinting diseases caused by maternal and paternal duplication of human chromosome 14, respectively. They exhibit different postnatal muscle-related symptoms as well as prenatal placental problems. Using the mouse models for these syndromes, it has been demonstrated that retrotransposon gag like 1 [Rtl1, also known as paternally expressed 11 (Peg11)] located in the mouse orthologous imprinted region is responsible for the prenatal placental problems because it is an essential placental gene for maintenance of fetal capillary network during gestation. However, the causative imprinted gene for the postnatal muscle-related symptoms remains unknown. Here, we demonstrate that Rtl1 also plays an important role in fetal/neonatal skeletal muscle development: its deletion and overproduction in mice lead to neonatal lethality associated with severe but distinct skeletal muscle defects, similar to those of Temple and Kagami-Ogata syndromes, respectively. Thus, it is strongly suggested that RTL1 is the major gene responsible for the muscle defects in addition to the placental defects in these two genomic imprinting diseases. This is the first example of an LTR retrotransposon-derived gene specific to eutherians contributing to eutherian skeletal muscle development.

The pectoralis quartus and chondro-epitrochlearis combined muscle variation: description and surgical relevance

The authors describe a rare unilateral muscle variation in the thoracic wall combining the pectoralis quartus and chondro-epitrochlearis muscles. A routine dissection was performed in the upper right limb of a male adult cadaver with approximately 35-50 years of age, embalmed in formalin 10%. An accessory muscle, the pectoralis quartus, was identified and was associated with a tendon that was inserted in the medial humeral epicondyle, characteristic of the chondro-epitrochlearis muscle tendon. Such variations have significant clinical relevance to orthopedics, mastology, neural and vascular surgery, and other specialties, for surgical approaches in both the axillary and brachial regions.

Real-time shear wave ultrasound elastography: a new tool for the evaluation of diaphragm and limb muscle stiffness in critically ill patients.

BACKGROUND: Muscle weakness following critical illness is the consequence of loss of muscle mass and alteration of muscle quality. It is associated with long-term disability. Ultrasonography is a reliable tool to quantify muscle mass, but studies that evaluate muscle quality at the critically ill bedside are lacking. Shear wave ultrasound elastography (SWE) provides spatial representation of soft tissue stiffness and measures of muscle quality. The reliability and reproducibility of SWE in critically ill patients has never been evaluated. METHODS: Two operators tested in healthy controls and in critically ill patients the intra- and inter-operator reliability of the SWE using transversal and longitudinal views of the diaphragm and limb muscles. Reliability was calculated using the intra-class correlation coefficient and a bootstrap sampling method assessed their consistency. RESULTS: We collected 560 images. Longitudinal views of the diaphragm (ICC 0.83 [0.50-0.94]), the biceps brachii (ICC 0.88 [0.67-0.96]) and the rectus femoris (ICC 0.76 [0.34-0.91]) were the most reliable views in a training set of healthy controls. Intra-class correlation coefficient for inter-operator reproducibility and intra-operator reliability was above 0.9 for all muscles in a validation set of healthy controls. In critically ill patients, inter-operator reproducibility and intra-operator 1 and 2 reliability ICCs were respectively 0.92 [0.71-0.98], 0.93 [0.82-0.98] and 0.92 [0.81-0.98] for the diaphragm; 0.96 [0.86-0.99], 0.98 [0.94-0.99] and 0.99 [0.96-1] for the biceps brachii and 0.91 [0.51-0.98], 0.97 [0.93-0.99] and 0.99 [0.97-1] for the rectus femoris. The probability to reach intra-class correlation coefficient greater than 0.8 in a 10,000 bootstrap sampling for inter-operator reproducibility was respectively 81%, 84% and 78% for the diaphragm, the biceps brachii and the rectus femoris respectively. CONCLUSIONS: SWE is a reliable technique to evaluate limb muscles and the diaphragm in both healthy controls and in critically ill patients. TRIAL REGISTRATION: The study was registered (ClinicalTrial NCT03550222).

Factors Associated With Low Lean Mass in Early Rheumatoid Arthritis: A Cross- Sectional Study.

Background and Objectives: The aim of the study was to evaluate body composition (BC) of rheumatoid arthritis (RA) patients at disease onset compared to population controls focusing on the associations between low lean mass and disease specific parameters, nutritional factors and physical activity. Materials and Methods: 91 patients with early rheumatoid arthritis (ERA) (72% female) and 328 control subjects (54% female) were studied. BC- lean and fat mass parameters were measured with a Lunar Prodigy Dual Energy X-Ray Absorptiometry (DXA) machine. The prevalence, age and gender adjusted odds ratios of having low lean mass and overfat, associations between nutrition, physical activity, and ERA disease specific parameters and the presence of low lean mass were evaluated. Results: We found that the BC of patients with recent onset RA differs from control subjects-ERA patients had a higher mean body fat percentage (BFP) and lower appendicular lean mass (ALM). 41.8% of the ERA patients and 19.8% of the controls were classified as having low lean mass adjusted OR 3.3 (95% C.I. 1.9-5.5, p < 0.001). 68.1% of the ERA subjects and 47.3% of the controls were overfat (adjusted OR 1.9 (95% C.I. 1.1-3.3, p = 0.02)) and the adjusted odds of having both low lean mass and overfat were 4.4 times higher (26.4% vs. 7.0% 95% C.I. 2.3-8.4, p < 0.001) among the ERA group. Higher ESR (OR 1.03, C.I.1.002-1.051, p = 0.03), CRP (OR 1.03, C.I. 1.002-1.061, p = 0.04), lower protein intake (OR 0.98 C.I. 0.96-0.99, p = 0.04), corticosteroid usage (OR 3.71 C.I. 1.4-9.9, p < 0.01) and lower quality of life (higher HAQ score OR 2.41 C.I. 1.24-4.65, p < 0.01) were associated with having low lean mass in the ERA group (adjusted to age and gender). Conclusions: Patients with early RA have lower appendicular lean mass and higher body fat percentage compared to healthy controls. Loss of lean mass in early RA is associated with elevated inflammatory markers inducing catabolism, lower protein intake and also with GCS treatment.

Multiple muscular abnormalities in a fetal cadaver with CHARGE syndrome.

The CHARGE syndrome characterized by coloboma, heart defects, atresia of the choanae, retarded growth, genitourinary hypoplasia, and ear anomalies is one of the rare syndromes. Although certain clinical issues (scapular winging, sloping shoulder, Sprengel's deformity, kyphosis and scoliosis) which could be related to abnormalities in musculoskeletal structures of the neck and shoulder have been identified in CHARGE syndrome, data on details of muscle anomalies seem to be quite limited in the literature. In this case report, bilateral multiple muscular abnormalities (agenesis of the trapezius, presence of the rhombo-atloid muscle, and presence of the bipartite rhomboid minor with superficial and deep parts) was presented in a fetus cadaver with atypical CHARGE syndrome to attract the attention of clinicians for definitive diagnoses and surgical reconstruction of the shoulders deformity such as scapular winging and Sprengel's deformity. By considering the previous studies, we propose that the absence of the trapezius, as well as the other muscle abnormalities around the neck and shoulder, should be revised as being a component of CHARGE syndrome.

Copper pyrithione, a booster biocide, induces abnormal muscle and notochord architecture in zebrafish embryogenesis.

The metal pyrithiones, principally zinc (ZnPT) and copper (CuPT), are replacing tributyltin (TBT) as antifouling agents. Zebrafish embryos were exposed within the first hour after fertilization to 12 and 64 µg/L of CuPT for 24 h. Morphological abnormalities in notochord and muscle architecture were observed at 96 h post fertilization (hpf). TEM revealed abnormal electron dense deposits in the notochord sheath and muscle fiber degeneration in animals treated with 12 µg/L of CuPT. Embryos that were exposed to 64 µg/L of CuPT displayed severe muscle fiber degeneration including abnormal A and I band patterning and altered z disk arrangement. Abnormalities in the notochord sheath, swelling of the mitochondria and numerous lipid whorls were also noted. Total antioxidant capacity was significantly decreased in embryos exposed to 12 and 64 µg/L of CuPT. Acridine orange staining revealed an increase in apoptosis particularly in the brain, eye, heart and tail regions of both treatment groups. Apoptosis was confirmed with an increase in caspase 3/7 activity in both treatment groups. Severe alternations in primary motor neuron axon extensions, slow tonic muscle fibers and fast twitch fibers were observed in CuPT treated embryos. There was a significant upregulation in sonic hedgehog and myod1 expression at 24 hpf in the 12 µg/L treatment group. Exposed zebrafish embryos showed ultra-structural hallmarks of peroxidative injury and cell death via apoptosis. These changes question the use of copper pyrithione as an antifouling agent.

Identification of genes in toxicity pathways of trinucleotide-repeat RNA in C. elegans.

Myotonic dystrophy disorders are caused by expanded CUG repeats in noncoding regions. Here we used Caenorhabditis elegans expressing CUG repeats to identify genes that modulate the toxicity of such repeats. We identified 15 conserved genes that function as suppressors or enhancers of CUG repeat-induced toxicity and that modulate formation of nuclear foci by CUG-repeat RNA. These genes regulate CUG repeat-induced toxicity through distinct mechanisms including RNA export and clearance, thus suggesting that CUG-repeat toxicity is mediated by multiple pathways. A subset of the genes are also involved in other degenerative disorders. The nonsense-mediated mRNA decay (NMD) pathway has a conserved role in regulating CUG-repeat-RNA transcript levels and toxicity, and NMD recognition of toxic RNAs depends on 3'-untranslated-region GC-nucleotide content. Our studies suggest a broader surveillance role for NMD in which variations in this pathway influence multiple degenerative diseases.

The prevalence of functional absence of flexor digitorum superficialis to the little finger: a study in a Turkish population.

This prospective study was conducted to determine the prevalence of absence of flexor digitorum superficialis (FDS)-V tendon and to investigate the clinical usefulness of symmetry patterns, differences between sex, laterality, and dexterity in a Turkish population. Four hundred randomly-selected adult patients were examined for the absence of FDS-V function. The absence of FDS-V on both sides, results of the examination tests, age, sex, and dexterity were recorded and analysed statistically. The overall prevalence of absence of FDS-V was 18.5% in the Turkish population. The prevalence of functional absence of FDS-V was statistically similar between the body sides and sex (p = 0.258 and p = 0.333). The prevalence of symmetric occurrence of the variations in both hands was 87.2%. If a functional FDS is demonstrated in one hand, the probability of having a functional FDS-V in the contralateral hand is 91.8%. However, when the FDS-V is absent in one hand, the probability of having an absent FDS-V in the contralateral hand is 51.1%. The symmetric occurrence of variations was equally distributed in both sex and dexterity (p = 0.223 and p = 0.201). Prediction of FDS-V function in one hand through examining the opposite hand may cause false negative or false positive results. However, if the uninjured hand has independent FDS-V function, the inability to flex the PIP joint in the injured hand can be accepted as an injury to the FDS and surgical exploration should be performed. However, if the uninjured hand has an absent function, assumption of symmetric distribution should not be used.

Extensor indicis brevis muscle: an unusual muscular variant / Músculo extensor corto del índice: una inusual variación muscular

Knowledge of anatomical variations of the musculoskeletal system is important for interpreting unusual clinical presentations. We observed the presence of an abnormal extensor indicis muscle in the left hand of an adult male cadaver. In this case, the muscle comes from the ligament and over the scaphoideum and trapezoideum bones and continues after the short muscle belly; it is attached to the dorsal aponeurosis of the indicis. This muscular disposition was described in other studies which demonstrated approximately 1.0 percent of incidence. Clinically, this anatomical variation may be associated with pain and swelling at the back of the hand. In these cases symptoms tend to increase due to mechanical stress and can be confused with the presence of a dorsal synovial cyst. This report will help clinicians, surgeons, occupational and physical therapists formulate better clinical or surgical decisions when presented with a rare anatomical variation...

El conocimiento de las variaciones anatómicas del aparato locomotor es importante para la interpretación de las presentaciones clínicas inusuales. En este trabajo se relata la presencia de un músculo extensor indicis anormal en la mano izquierda de un cadáver de un hombre adulto, de sexo masculino. En este caso, el músculo proviene del ligamento y del dorso de los huesos escafoides y trapecio y se continúa después de un corto vientre muscular, fijándose a la aponeurosis dorsal del índice. Esta disposición muscular se ha descrito en otros estudios que demostraron aproximadamente un 1,0 por ciento de incidencia. Clínicamente, esta variación anatómica puede estar asociada con dolor e hinchazón en el dorso de la mano. En estos casos, los síntomas tienden a aumentar debido a la tensión mecánica y puede confundirse con la presencia de un quiste sinovial dorsal. Este informe ayudará a los médicos, cirujanos, terapeutas ocupacionales y físicos a tomar mejores decisiones clínicas o quirúrgicas cuando se le presenta una variación anatómica como la descrita...

Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy.

Muscular hypertrophy is a very rare finding on foetal ultrasonography. We present a case with recurrent muscular hypertrophy, liver enlargement and polyhydramnios in two pregnancies. One pregnancy was terminated due to suspicion of a storage disease, whereas the other led to delivery of a boy with muscular hypertrophy and mildly retarded psychomotor development. Array-CGH identified a small duplication of 7q36.3 including the Sonic Hedgehog (SHH) gene in both the aborted foetus and the live born male sib. Neither of the parents carried the 7q36.3 duplication. The consequences of overexpression of SHH in humans are not elucidated, but animal studies have suggested its importance in muscular hypertrophy. We suggest that the clinical findings in the presented case might be explained by the duplication and presumed overexpression of SHH.

Periodicity and time trends in the prevalence of total births and conceptions with congenital malformations among Jews and Muslims in Israel, 1999-2006: a time series study of 823,966 births.

BACKGROUND Congenital malformations (CMs) are a leading cause of infant disability. Geophysical patterns such as 2-year, yearly, half-year, 3-month, and lunar cycles regulate much of the temporal biology of all life on Earth and may affect birth and birth outcomes in humans. Therefore, the aim of this study was to evaluate and compare trends and periodicity in total births and CM conceptions in two Israeli populations. METHODS Poisson nonlinear models (polynomial) were applied to study and compare trends and geophysical periodicity cycles of weekly births and weekly prevalence rate of CM (CMPR), in a time-series design of conception date within and between Jews and Muslims. The population included all live births and stillbirths (n = 823,966) and CM (three anatomic systems, eight CM groups [n = 2193]) in Israel during 2000 to 2006. Data were obtained from the Ministry of Health. RESULTS We describe the trend and periodicity cycles for total birth conceptions. Of eight groups of CM, periodicity cycles were statistically significant in four CM groups for either Jews or Muslims. Lunar month and biennial periodicity cycles not previously investigated in the literature were found to be statistically significant. Biennial cycle was significant in total births (Jews and Muslims) and syndactyly (Muslims), whereas lunar month cycle was significant in total births (Muslims) and atresia of small intestine (Jews). CONCLUSION We encourage others to use the method we describe as an important tool to investigate the effects of different geophysical cycles on human health and pregnancy outcomes, especially CM, and to compare between populations.

Akirin links twist-regulated transcription with the Brahma chromatin remodeling complex during embryogenesis.

The activities of developmentally critical transcription factors are regulated via interactions with cofactors. Such interactions influence transcription factor activity either directly through protein-protein interactions or indirectly by altering the local chromatin environment. Using a yeast double-interaction screen, we identified a highly conserved nuclear protein, Akirin, as a novel cofactor of the key Drosophila melanogaster mesoderm and muscle transcription factor Twist. We find that Akirin interacts genetically and physically with Twist to facilitate expression of some, but not all, Twist-regulated genes during embryonic myogenesis. akirin mutant embryos have muscle defects consistent with altered regulation of a subset of Twist-regulated genes. To regulate transcription, Akirin colocalizes and genetically interacts with subunits of the Brahma SWI/SNF-class chromatin remodeling complex. Our results suggest that, mechanistically, Akirin mediates a novel connection between Twist and a chromatin remodeling complex to facilitate changes in the chromatin environment, leading to the optimal expression of some Twist-regulated genes during Drosophila myogenesis. We propose that this Akirin-mediated link between transcription factors and the Brahma complex represents a novel paradigm for providing tissue and target specificity for transcription factor interactions with the chromatin remodeling machinery.

Aberrant ligand-induced activation of G protein-coupled estrogen receptor 1 (GPER) results in developmental malformations during vertebrate embryogenesis.

G protein-coupled estrogen receptor 1 (GPER) is a G protein-coupled receptor (GPCR) unrelated to nuclear estrogen receptors but strongly activated by 17ß-estradiol in both mammals and fish. To date, the distribution and functional characterization of GPER within reproductive and nonreproductive vertebrate organs have been restricted to juvenile and adult animals. In contrast, virtually nothing is known about the spatiotemporal distribution and function of GPER during vertebrate embryogenesis. Using zebrafish as an animal model, we investigated the potential functional role and expression of GPER during embryogenesis. Based on real-time PCR and whole-mount in situ hybridization, gper was expressed as early as 1 h postfertilization (hpf) and exhibited strong stage-dependent expression patterns during embryogenesis. At 26 and 38 hpf, gper mRNA was broadly distributed throughout the body, whereas from 50 to 98 hpf, gper expression was increasingly localized to the heart, brain, neuromasts, craniofacial region, and somite boundaries of developing zebrafish. Continuous exposure to a selective GPER agonist (G-1)-but not continuous exposure to a selective GPER antagonist (G-15)-from 5 to 96 hpf, or within three developmental windows ranging from 10 to 72 hpf, resulted in adverse concentration-dependent effects on survival, gross morphology, and somite formation within the trunk of developing zebrafish embryos. Importantly, based on co-exposure studies, G-15 blocked severe G-1-induced developmental toxicity, suggesting that G-1 toxicity is mediated via aberrant activation of GPER. Overall, our findings suggest that xenobiotic-induced GPER activation represents a potentially novel and understudied mechanism of toxicity for environmentally relevant chemicals that affect vertebrate embryogenesis.