Muscular Defect Research Articles

Influence of Electroacupuncture on the Soft Tissue Healing Process

The aim of this study was to determine the effect of bipolar electroacupuncture (EA) on a soft tissue defect in rabbits. Ten clinically healthy New Zealand white rabbits were divided into two groups: the control group (Group C, n = 5) and the experimental (EA) group (Group T, n = 5). During neuroleptanalgesia, defects of soft tissue (skin and muscle) were made at the dorsum site on the rabbits in both groups, and those defects were stimulated using EA. The biopsy samples were collected on Day 2, Day 4, and Day 6, prepared for histology, and examined microscopically. On the 2nd day, in Group C, the inflammatory degree was higher than it was in Group T; on subsequent days, low or identical degrees of inflammation were observed in both groups. Proliferative fibrous activity was increased on Day 4 for Group T and identical for both groups on Day 6. The dynamics of the epidermal thickness were characterized by a high rate on Day 2, Day 4, and Day 6 for Group T. EA facilitates a low tissue mechanical stress and has a positive effect on the healing of muscular defects. EA enhances the healing process, with no side effects.

Laryngeal spasm mimicking asthma and vitamin d deficiency.

We present a woman with heterozygous carnitine palmitoyl transferase 2 (CPT-2) deficiency who in the last 6 months suffered from episodic dyspnea and choking. Symptoms could not be attributed to her muscular energy defect, since heterozygous CPT-2 deficiency is usually asymptomatic or causes only mild muscle fatigability. Myopathy is usually triggered by concurrent factors, either genetic (additional muscle enzymes defects) or acquired (metabolic stress). The patient was referred to our respiratory clinic for suspect bronchial asthma. Spirometry showed mild decrease in inspiratory flows. Methacholine challenge was negative. Dyspnea was triggered by hyperventilation-induced hypocapnia, which produced marked decrease in airflow rates, particularly in inspiratory flows, consistent with laryngospasm. Nutritional assessment of the patient showed low serum level of calcium and vitamin D, attributable to avoidance of milk and dairy products for lactose intolerance and to insufficient sunlight exposure. After calcium and vitamin D supplementation episodic laryngospasm disappeared and hypocapnic hyperventilation test induced very mild change in airflow rates. Calcium and vitamin D deficiency may favour laryngeal spasm mimicking asthma, particularly in subjects with underlying myopathy.

Inflammatory reaction and tensile strength of the abdominal wall after an implant of polypropylene mesh and polypropylene/poliglecaprone mesh for abdominal wall defect treatment in rats.

To compare the inflammatory reaction and the growing resistance of the abdominal wall with the use of poliglecaprone meshes and polypropylene meshes associated with poliglecaprone in the correction of abdominal defects. Seventy-seven Wistar rats were divided into three groups: CG (non-operated animals: EG (polypropylene mesh) and UG (polypropylene and poliglecaprone mesh). A muscular and aponeurotic defect was formed and treated according to the group. Evaluations were made after 4, 7, 14, 28 and 56 days. The resistance and inflammatory pattern were studied. There was a gradual and significant gain in resistance, regularly in the EG and irregularly in the UG, which was lower on the 14th day (p=0.008). The inflammatory reaction was acute and more intense in the UG on the fourth day. At all other times, the inflammatory pattern was acute to chronic, similar in both groups, with minimum intensity on the 56th day. The greater resistance offered by the polypropylene mesh was regular and ascending, stabilizing on the 28th day, while that of the polypropylene/poliglecaprone was not even. In the end, the resistances were similar. The inflammatory response was greater in the UG on the fourth day and similar at all other times.

Isolated ventricular septal defects in the era of advanced fetal echocardiography: risk of chromosomal anomalies and spontaneous closure rate from diagnosis to age of 1 year

To evaluate, in a cohort of 248 fetuses seen at a tertiary referral center, the frequency of isolated ventricular septal defects (VSD) among all congenital heart defects (CHD), the association with chromosomal and postnatal anomalies and the rate of spontaneous closure. This was a 6-year study on 10,800 women referred for fetal echocardiography, with 995 confirmed cases of CHD. The prevalence and characteristics of VSDs were analyzed, including follow-up until 1 year of age. Multivariate binary logistic regression analysis was performed to test the independent contribution of the ratio of the diameter of the VSD to that of the aorta (VSD/aorta ratio) (< 0.5 or ≥ 0.5) and location of VSD (perimembranous or muscular) in the prediction of spontaneous closure before the age of 1 year. Two hundred and forty-eight VSDs (24.9% of all CHDs) were diagnosed, of which 216 (87.1%) were muscular and 32 (12.9%) perimembranous. Median gestational age at diagnosis was 30.4 (range, 17-41) weeks and mean size 2.6 ± 0.77 mm. Clinically relevant chromosomal anomalies were found in one (3.1%) perimembranous VSD compared with none in 216 muscular defects (P = 0.12). Postnatal malformations were diagnosed in eight of the 211 cases (3.8%) evaluated at 12 months postpartum. Spontaneous closure occurred prenatally in 13 fetuses (5.2%) and postnatally in 151 of the 198 infants (76.3%) who had an open VSD at birth. Closure was predicted by the VSD/aorta ratio (odds ratio (OR) 0.445 (95% CI, 0.216-0.914); P < 0.03) and location (OR 0.385 (95% CI, 0.160-0.926); P < 0.03). In our fetal cardiology unit, isolated muscular VSD is today the most prevalent CHD. In contrast to the findings of postnatal studies, muscular VSDs were more common than perimembranous VSDs. Perimembranous VSDs were associated with a higher risk of chromosomal anomalies than were muscular VSDs, which had a similar risk to those of normal pregnancies. Spontaneous closure of the VSD was frequent and occurred in most cases postnatally.

SPONTANEOUS CLOSURE OF ISOLATED VENTRICULAR SEPTAL DEFECT IN THE FIRST FIVE YEARS OF LIFE

Background Isolated VSD is the most common congenital heart defect. The defect can be in any portion in the septum and of different size that play an important role in the clinical outcomes of its spontaneous closure. Objective To correlate the size and location (excluding inlet type) of isolated VSD with spontaneous closure rate in the 1 st 5 years of life. Materials and Methods This is a retrospective study for patient’s record with VSD that visited Sulaimani Pediatric Teaching Hospital during 1 st of January 2006 to 30 th of February 2011 in Echocardiography Unit observed and studied by the same operator. The data analysis of 87 children records with isolated VSD had been studied on frequent outpatient clinic visits and followed up for a maximum period of 5 years or until spontaneous closure had occurred. Results from two dimensional, and Doppler (spectral and color) echocardiography examinations were evaluated for each patient. Results The age range of patients at time of initial examination who received follow up was 5 days to 12 months old. Spontaneous closure occurred in 43(49.4%) of the 87 cases that were followed up for 5 years. Thirty six (62.1%) cases of small, 7 (35%) cases of moderate and none of the patients with large VSDs had spontaneous closure. Spontaneous closure was noted in 34 (72.3%) of 47 cases of muscular defects and in 9 (22.5%) of 40 patients with perimembranous VSD. The time of spontaneous closure ranged from 1 to 60 months and it occurred most commonly during the first 24 months of age. By the 1 st , 2 nd , 3 rd and 4 th year cumulative spontaneous closure occurred in 28.7%, 43.6%, 47.1%, and 48.2% respectively and at the 5 th year it was seen in all 43 cases. Conclusion More than half of the small and one third of moderate size VSD had spontaneous closure by 5 year of age. Two thirds of muscular and nearby one fourth of perimembraneous defects have closed spontaneously.The majority of spontaneous closures occurred in the first 2 years of life.

Prevalence of pelvic organ prolapse detected at dynamic MRI in women without history of pelvic floor dysfunction: Comparison of two reference lines

To retrospectively evaluate the prevalence of pelvic organ prolapse as an incidental finding on dynamic magnetic resonance imaging (MRI) using two different references lines. Sixty women with symptoms unrelated to pelvic floor dysfunction who underwent MRI including a dynamic sagittal true fast imaging with steady-state free precession (TrueFISP) sequence during straining were identified. Two radiologists in consensus used the pubococcygeal line (PCL) and mid-pubic line (MPL) to diagnose and grade prolapse in all three pelvic compartments. Cystocele was absent, mild, moderate, and severe in 88% (53/60), 7% (4/60), 5% (3/60), and 0% (0/60) of patients, respectively, using PCL, versus 78% (47/60), 13% (8/60), 5% (3/60), and 3% (2/60) of patients, respectively, using MPL. Vaginal prolapse was absent, mild, moderate, and severe in 95% (57/60), 5% (3/60), 0% (0/60), and 0% (0/60) of patients, respectively, using PCL, versus 80% (48/60), 17% (10/60), 3% (2/60), and 0% (0/60) of patients, respectively, using MPL. Rectal descent was absent, mild, moderate, and severe in 63% (38/60), 10% (6/60), 23% (14/60), and 3% (2/60) of patients, respectively, using PCL, versus 43% (26/60), 27% (16/60), 27% (16/60), and 3% (2/60) of patients, respectively, using MPL. No enterocele, peritoneocele, or muscular defect was identified. Two percent (1/60) of patients had mild rectocele, 8% (5/60) had abnormal vesico-urethral angle, and 25% (15/60) had abnormal levator plate angle. In asymptomatic women, dynamic MRI identified the greatest degrees of prolapse in the posterior compartment. The MPL consistently yielded greater frequency of prolapse than the PCL. Findings of pelvic organ prolapse may be observed in asymptomatic patients and are of uncertain significance, requiring correlation with clinical and physical examination findings.

Becker's nevus syndrome with bilateral skin involvement

Becker’s nevus syndrome is a rare disorder characterized by Becker's nevus associated with developmental anomalies, such as hypoplasia of the ipsilateral breast or other cutaneous, muscular, or skeletal defects. We present a rare case of Becker's nevus syndrome with bilateral skin involvement but the associated anomalies, hypoplasia of the whole right upper limb and ipsilateral breast, remained localized to the more severe body side only.

In vitrocellular response to oxidized collagen-PLLA hybrid scaffolds designed for the repair of muscular tissue defects and complex incisional hernias

Unique poly(l-lactic acid) (PLLA)-based scaffolds were constructed by embedding knitted PLLA yarns within a bioresorbable and differentially crosslinked three-dimensional (3D) oxidized collagen scaffold. The scaffolds were designed specifically for the repair of complex incisional abdominal wall hernias and the repair of defects within planar muscular tissues, such as the bladder. The chemical composition of the collagen matrix and the percentage of scaffold infiltration were compared for the different scaffold compositions. The results demonstrate that the incorporation of the collagen sponge within the PLLA scaffold facilitated bladder smooth muscle cell (bSMC) adhesion and proliferation. The highest dose of oxidized collagen (Oxicol) demonstrated better cell adhesion, resulting in the largest cell densities and most uniform distribution throughout the 3D collagen sponge. This formulation promoted the greatest α-smooth muscle actin (αSMA) expression detected through immunohistochemical staining and western blotting. For abdominal wall repair applications, the proliferation and differentiation of C2C12 myoblasts and myotube formation were studied. Following 7 days of myogenic induction, the greatest expression of mRNA of the myogenic markers myogenin and MRF4 was observed within the scaffolds with the highest dose of oxidized collagen, 1.5- and 3.85-fold greater expressions, respectively, compared to PLLA with unmodified collagen. Furthermore, in vitro myotube formation and MyMC expression were enhanced in the Oxicol scaffolds. We conclude that the Oxicol scaffold formulation with a high-dose oxidized collagen ratio provides enhanced myogenesis and αSMA, and the biological induction cues necessary to achieve better tissue integration, than standard PLLA scaffolds in the treatment of complex abdominal wall hernias. Copyright © 2013 John Wiley & Sons, Ltd.

Segmental muscular defects of the intestine: a possible cause of spontaneous perforation of the bowel in adults

Idiopathic intestinal perforation has been described as spontaneous bowel perforation; only a few cases of the condition have been reported in adults. We conducted a histologic analysis of 7 adult cases of spontaneous intestinal perforation (mean patient age, 63.3 [range, 44-89] years; male-to-female ratio, 1:1.3), which revealed some previously unreported findings. None of the patients had congenital disease. All patients presented with acute abdomen, and intestinal perforations were detected during laparotomy. Perforations, ranging in diameter from a pinpoint size to 3 cm, developed in the colon and small bowel in 4 and 3 cases, respectively. One patient had 2 perforations. Histologic examinations revealed segmental muscularis propria defects around the perforation sites. The extent and degree of the muscular defect varied from case to case; however, all lesions included full-thickness muscular defects. No significant infiltration of inflammatory cells was observed associated with the defects. The mucosa and muscularis mucosa were maintained normally, except in 1 hemorrhagic case. Reparative changes such as granulation were not found; however, short spindle cells or fibroblasts occasionally proliferated around the edges of the disrupted muscularis propria. In 1 case, a muscular defect was also observed in an area far from the perforation site. These findings closely resemble those of neonatal intestine with spontaneous perforation. Etiology of segmental muscular defects in adults is unclear. It may be focal congenital anomaly. In any case, the segmental muscular defects can explain bowel wall weakening, and it can be a major cause of spontaneous perforation of the adult bowel.

Laparoscopic mesh repair of parahiatal hernia: A case report

We report a case of a primary parahiatal hernia that was repaired laparoscopically with a composite mesh. A 51-year-old woman presented with vomiting and epigastric pain. CT scan showed a giant paraesophageal hernia with intrathoracic gastric volvulus. Intraoperatively, a diaphragmatic muscular defect was found lateral to an attenuated left crus of the diaphragm, distinct from the normal esophageal hiatus. The defect ring was fibrotic, making a tension-free primary repair difficult. A laparoscopic mesh repair was performed with a composite mesh, which was covered with the hernia sac to prevent potential erosion into the esophagus or stomach. Recovery was uneventful and the patient was discharged on the 5 days postoperatively. She remained asymptomatic at subsequent follow-up. Laparoscopic repair of parahiatal hernia can be safely performed. In circumstances where a large or fibrotic defect prevents a tension-free primary repair, the use of a composite mesh can provide effective repair of the hernia.

FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy with a strong epigenetic component. It is associated with deletion of a macrosatellite repeat leading to over-expression of the nearby genes. Among them, we focused on FSHD region gene 1 (FRG1) since its over-expression in mice, Xenopus laevis and Caenorhabditis elegans, leads to muscular dystrophy-like defects, suggesting that FRG1 plays a relevant role in muscle biology. Here we show that, when over-expressed, FRG1 binds and interferes with the activity of the histone methyltransferase Suv4-20h1 both in mammals and Drosophila. Accordingly, FRG1 over-expression or Suv4-20h1 knockdown inhibits myogenesis. Moreover, Suv4-20h KO mice develop muscular dystrophy signs. Finally, we identify the FRG1/Suv4-20h1 target Eid3 as a novel myogenic inhibitor that contributes to the muscle differentiation defects. Our study suggests a novel role of FRG1 as epigenetic regulator of muscle differentiation and indicates that Suv4-20h1 has a gene-specific function in myogenesis.

Nasolabial Fold Discontinuity during Speech as a Possible Extended Cleft Phenotype

Objective : This exploratory research sought to extend the cleft phenotype by identifying movement-related soft tissue appearance changes in the midfacial region in individuals with cleft lip/palate or those with genetic susceptibility to cleft lip/palate (unaffected relatives). The cleft phenotype (clinically identified orofacial cleft or subclinical orbicularis oris defect) was hypothesized to be associated with movement related appearance changes in the midfacial region, e.g., with furrowing and dimpling during speech. Design : Changes in the appearance of skin in the midfacial region, including a newly identified phenotypic feature, nasolabial fold (NLF) discontinuity, were described and compared across groups. Participants : Individuals with cleft lip (n = 42), unaffected relatives of persons with a cleft (n = 57) and healthy controls (n = 41) were compared. Results : Frequencies of NLF discontinuity differed across cleft, relative, and control groups. NLF discontinuities were observed more frequently in individuals with a cleft phenotype (overt cleft or previously identified orbicularis oris muscle defect) than in those with no underlying muscular defect (Fisher exact test, P = .014). Conclusion : Results suggest that the appearance of facial soft tissue during movement of the midface is moderated at least in part by underlying cleft risk factors, indicating certain facial movements as candidate physical markers for extension of the cleft phenotype.

Diverticulopexia no tratamento do divertículo de Zenker

Zenker's diverticulum is a pseudodiverticulum through a muscular defect in the posterior pharyngeal wall at the area between the inferior pharyngeal constrictor muscles of the pharynx and the cricopharyngeus muscle. Although endoscopic techniques have made significant progress, the surgical treatment remains the gold standard. There are two main techniques: diverticulectomy (resection of the diverticulum) and diverticulopexy. The main advantages of diverticulopexy are mostly linked to the absence of an esophageal anatomosis and its possible complications: cervical fistulae, mediastinitis, esophageal stenosis and wound infection, which allows a rapid recover with satisfactory oral intake. The purpose of this article is to describe in details the technique for diverticulopexy to the prevertebral ligament in association with a miotomy of the cricopharyngeus muscle.

A Giant Foreign Body due to Rocket Explosion.

A 25-year-old soldier presented to the emergency department with a right scapular injury caused by a rocket explosion during a terrorist attack. The attack occurred while the patient was driving an armored vehicle. Upon physical examination, a skin and muscular defect measuring 5×1.5 cm in the right scapular region near the shoulder was observed. A right shoulder roentgenogram revealed a giant metallic foreign body measuring 11×2.5 cm, which was parallel to the humerus (Figure 1). The right humerus was intact. A lung roentgenogram presented normal findings. Doppler ultrasonography indicated no vascular injury to the affected site. The patient underwent surgery, and the metallic foreign body was removed from the body (Figure 2). The patient was discharged after a 2-day hospital stay.

Spontaneous Pulmonary Hernia: A Case Report

Hernia is defined as the protrusion of a totally or partially displaced organ from its normal visceral cavity. Most hernias occur at the level of the abdominal wall, because of a muscular defect. Pulmonary hernias are extremely rare and can be congenital or acquired. We present a 64-year-old patient who developed a spontaneous pulmonary hernia after a severe coughing episode. We describe the clinical features, diagnosis, and successful treatment.

Long-term Complications Following Surgical Patch Closure of Multiple Muscular Ventricular Septal Defects

Multiple muscular ventricular septal defects (VSDs) in children can be difficult to treat and a range of techniques has been advocated. These include pulmonary artery banding, interventional catheter closure, and a variety of surgical approaches. When there are apical muscular defects and associated coarse trabeculations in the right ventricle (RV) producing a "Swiss cheese" pattern, a large patch extending on to the RV free wall and excluding part of the apex has been used. We assessed four adult patients who had surgery 22 to 45 years ago to treat muscular VSD by patches which excluded the RV apex. Ages ranged from 22 to 50 years. Re-presentations were for polycythemia, cyanosis, syncope, and atrial flutter. Echocardiography showed bidirectional flow from left ventricle to apex of RV, no pulmonary hypertension, small-sized RV with diastolic dysfunction, enlarged right atria, reopening of patent foramen ovale (PFO) in three, and positive bubble studies with right to left shunting in two. Catheterization confirmed elevated right atrial and RV end diastolic pressures. Two patients had evidence of hepatic cirrhosis. One woman had device closure of PFO, but has right heart failure. One man had redo surgical closure of VSD and PFO. Another patient is being considered for a Glenn shunt to take some load off RV. Surgical closure of muscular VSD by large patch with RV apical exclusion gives good early results. However, long term in adult life, the reduced size of RV, and diastolic dysfunction cause problems. These include reopening of PFO with cyanosis, right heart failure, cirrhosis, and arrhythmias.

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

Several known or putative glycosyltransferases are required for the synthesis of laminin-binding glycans on alpha-dystroglycan (αDG), including POMT1, POMT2, POMGnT1, LARGE, Fukutin, FKRP, ISPD and GTDC2. Mutations in these glycosyltransferase genes result in defective αDG glycosylation and reduced ligand binding by αDG causing a clinically heterogeneous group of congenital muscular dystrophies, commonly referred to as dystroglycanopathies. The most severe clinical form, Walker–Warburg syndrome (WWS), is characterized by congenital muscular dystrophy and severe neurological and ophthalmological defects. Here, we report two homozygous missense mutations in the β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) gene in a family affected with WWS. Functional studies confirmed the pathogenicity of the mutations. First, expression of wild-type but not mutant B3GNT1 in human prostate cancer (PC3) cells led to increased levels of αDG glycosylation. Second, morpholino knockdown of the zebrafish b3gnt1 orthologue caused characteristic muscular defects and reduced αDG glycosylation. These functional studies identify an important role of B3GNT1 in the synthesis of the uncharacterized laminin-binding glycan of αDG and implicate B3GNT1 as a novel causative gene for WWS.

Facioscapulohumeral muscular dystrophy region gene 1 over-expression causes primary defects of myogenic stem cells

Overexpression of facioscapulohumeral muscular dystrophy region gene 1 (FRG1) in mice, frogs and worms leads to muscular and vascular abnormalities. Nevertheless, the mechanism that follows FRG1 overexpression and finally leads to muscular defects is currently unknown. Here, we show that the earliest phenotype displayed by mice overexpressing FRG1 is a postnatal muscle-growth defect. Long before the development of muscular dystrophy, FRG1 mice also exhibit a muscle regeneration impairment. Ex vivo and in vivo experiments revealed that FRG1 overexpression causes myogenic stem cell activation and proliferative, clonogenic and differentiation defects. A comparative gene expression profiling of muscles from young pre-dystrophic wild-type and FRG1 mice identified differentially expressed genes in several gene categories and networks that could explain the emerging tissue and myogenic stem cell defects. Overall, our study provides new insights into the pathways regulated by FRG1 and suggests that muscle stem cell defects could contribute to the pathology of FRG1 mice.

Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2

Pontocerebellar hypoplasia type 2 is an autosomal recessive disorder characterized by hypoplasia and atrophy of the cerebellum and pons, leading to microcephaly, dystonia/dyskinesia, seizures, and severe cognitive impairment. Until lately it was considered a CNS-refined disease, but recent reports have associated it with muscular defects, as well. A 5-year-old boy with genetically confirmed pontocerebellar hypoplasia type 2 is described. The patient had all the clinical and radiological features of the disease, but he, additionally, exhibited two episodes of rhabdomyolysis precipitated by respiratory infections. The possible mechanisms associating encephalopathy and myopathy in pontocerebellar hypoplasia type 2 are discussed.

Clarifying the Surgical Morphology of Inlet Ventricular Septal Defects

Different types of ventricular septal defects (VSD) open to the inlet of the right ventricle. The atrioventricular conduction axis is markedly different within these subtypes, a feature of great surgical importance. To clarify these relationships, we have studied hearts with such VSDs from the Idriss archive at Ann and Robert H. Lurie Children's Hospital of Chicago. We selected hearts from the archive showing the different variants of inlet VSD, photographing them to show the presumed disposition of the atrioventricular conduction axis as based on previous histology studies. We differentiated between perimembranous defects, muscular defects, perimembranous defects with straddling of the tricuspid valve, and atrioventricular septal defects with shunting confined at the ventricular level. The atrioventricular conduction axis is different in the four types of inlet VSDs. In perimembranous defects opening to the inlet of the right ventricle, the axis is positioned to the right hand of the surgeon operating through the tricuspid valve, whereas it is to the left hand with the muscular inlet defect. In patients with straddling tricuspid valve, the axis arises from an anomalous posteroinferior atrioventricular node, whereas in patients with atrioventricular septal defect with exclusive ventricular shunting, the axis arises at the crux of the heart from a node located in an inferiorly displaced nodal triangle. An appreciation of these relationships should help surgeons avoid the conduction system when closing inlet VSDs.